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     | 
        
        
            Parental Germline Mosaicism in Genome-Wide Phased de Novo Variants: Recurrence Risk Assessment and Implications for Precision Genetic Counselling
        
                            
                                                                                                            François Lecoquierre
                                                                ,
                                                                                                                                Nathalie Drouot
                                                                ,
                                                                                                                                Sophie Coutant
                                                                ,
                                                                                                                                Olivier Quenez
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                                                                                                                                Steeve Fourneaux
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                    hal-05151547
                                            v1
                                    
            
        
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            Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies
        
                            
                                                                                                            Cristina Rodilla
                                                                ,
                                                                                                                                Gonzalo Núñez-Moreno
                                                                ,
                                                                                                                                Yolanda Benitez
                                                                ,
                                                                                                                                Marta Rodríguez de Alba
                                                                ,
                                                                                                                                Fiona Blanco-Kelly
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                 Article dans une revue
                    
        
        
            
                
                    hal-05160008
                                            v1
                                    
            
        
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     | 
        
        
            Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations
        
                            
                                                                                                            Aude Nicolas
                                                                ,
                                                                                                                                Richard Sherva
                                                                ,
                                                                                                                                Benjamin Grenier-Boley
                                                                ,
                                                                                                                                Yoontae Kim
                                                                ,
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                 Article dans une revue
                    
        
        
            
                
                    hal-05313678
                                            v1
                                    
            
        
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            A detailed analysis of second and third-generation sequencing approaches for accurate length determination of short tandem repeats and homopolymers
        
                            
                                                                                                            Sophie I Jeanjean
                                                                ,
                                                                                                                                Yimin Shen
                                                                ,
                                                                                                                                Lise M Hardy
                                                                ,
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                                                                ,
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                 Article dans une revue
                    
        
        
            
                
                    hal-05159888
                                            v1
                                    
            
        
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            Development and validation of a next-generation sequencing-based method for calculating the breast cancer polygenic risk score PRS313
        
                            
                                                                                                            Flora Ponelle-Chachuat
                                                                ,
                                                                                                                                Mathis Lepage
                                                                ,
                                                                                                                                Sandrine Viala
                                                                ,
                                                                                                                                Mikaïl Kelleci
                                                                ,
                                                                                                                                Edith Le Floch
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                    hal-05289834
                                            v1
                                    
            
        
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     | 
        
        
            Characterization of challenging forensic DNA traces using advanced molecular technologies
        
                            
                                                                                                            Amel Larnane
                                                                ,
                                                                                                                                Caroline Lefèvre-Horgues
                                                                ,
                                                                                                                                Corinne Cruaud
                                                                ,
                                                                                                                                Cédric Fund
                                                                ,
                                                                                                                                Edith Le Floch
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-05159911
                                            v1
                                    
            
        
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     | 
        
        
            Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
        
                            
                                                                                                            Salima El Chehadeh
                                                                ,
                                                                                                                                Solveig Heide
                                                                ,
                                                                                                                                Chloé Quélin
                                                                ,
                                                                                                                                Marlène Rio
                                                                ,
                                                                                                                                Henri Margot
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                    hal-05299261
                                            v1
                                    
            
        
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            Comparison of the immunological and virological responses to cART between HIV-1/O and HIV-1/M patients followed up in France
        
                            
                                                                                                            Guillemette Unal
                                                                ,
                                                                                                                                Rémonie Seng
                                                                ,
                                                                                                                                Elodie Alessandri-Gradt
                                                                ,
                                                                                                                                Lorraine Plessis
                                                                ,
                                                                                                                                Mathilde Ghislain
                                                                                            et al.
                            
                 
                            
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                    hal-04954157
                                            v1
                                    
            
        
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            Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis
        
                            
                                                                                                            Alison Devonshire
                                                                ,
                                                                                                                                Jordi Morata
                                                                ,
                                                                                                                                Claire Jubin
                                                                ,
                                                                                                                                Rui Pedro Abreu Pereira
                                                                ,
                                                                                                                                Laura Hernandez-Hernandez
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                    hal-05216377
                                            v1
                                    
            
        
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     | 
        
        
            Integrative Multiparametric Analysis of Circulating Cell‐Free Nucleic Acids of Plasma in Healthy Individuals During Aging
        
                            
                                                                                                            Nicolas P Tessier
                                                                ,
                                                                                                                                Lise M Hardy
                                                                ,
                                                                                                                                Florence Mauger
                                                                ,
                                                                                                                                Antoine Daunay
                                                                ,
                                                                                                                                Christian Daviaud
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                 Article dans une revue
                    
        
        
            
                
                    hal-05159922
                                            v1
                                    
            
        
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            Alcohol consumption and DNA methylation: an epigenome-wide association study within the French E3N cohort
        
                            
                                                                                                            Dzevka Dragic
                                                                ,
                                                                                                                                Fanny Artaud
                                                                ,
                                                                                                                                Mojgan Karimi
                                                                ,
                                                                                                                                Thérèse Truong
                                                                ,
                                                                                                                                Laura Baglietto
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-05159990
                                            v1
                                    
            
        
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            Optimized protocol for direct extraction of SARS-CoV-2 RNA from raw wastewater samples (ANRS 0160)
        
                            
                                                                                                            Ahlam Chaqroun
                                                                ,
                                                                                                                                Ghina El Soufi
                                                                ,
                                                                                                                                Zuzana Gerber
                                                                ,
                                                                                                                                Julie Loutreul
                                                                ,
                                                                                                                                Nicolas Cluzel
                                                                                            et al.
                            
                 
                            
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                    hal-05075846
                                            v1
                                    
            
        
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     | 
        
        
            Comprehensive molecular portrait reveals genetic diversity and distinct molecular subtypes of small intestinal neuroendocrine tumors
        
                            
                                                                                                            Céline Patte
                                                                ,
                                                                                                                                Roxane Pommier
                                                                ,
                                                                                                                                Anthony Ferrari
                                                                ,
                                                                                                                                Felicia Fei-Lei Chung
                                                                ,
                                                                                                                                Maria Ouzounova
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                 Article dans une revue
                    
        
        
            
                
                    hal-04987274
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     | 
        
        
            Upstream open reading frame-introducing variants in patients with primary familial brain calcification
        
                            
                                                                                                            Anne Rovelet-Lecrux
                                                                ,
                                                                                                                                Antoine Bonnevalle
                                                                ,
                                                                                                                                Olivier Quenez
                                                                ,
                                                                                                                                Wandrille Delcroix
                                                                ,
                                                                                                                                Kévin Cassinari
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                    hal-04659594
                                            v1
                                    
            
        
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            Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
        
                            
                                                                                                            Yvan de Feraudy
                                                                ,
                                                                                                                                Marie Vandroux
                                                                ,
                                                                                                                                Norma Beatriz Romero
                                                                ,
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                                                                ,
                                                                                                                                Safaa Saker
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                    hal-04908518
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     | 
        
        
            Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
        
                            
                                                                                                            Kevin Riquin
                                                                ,
                                                                                                                                Bertrand Isidor
                                                                ,
                                                                                                                                Sandra Mercier
                                                                ,
                                                                                                                                Mathilde Nizon
                                                                ,
                                                                                                                                Estelle Colin
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                    hal-04191468
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            Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
        
                            
                                                                                                            Thomas Husson
                                                                ,
                                                                                                                                François Lecoquierre
                                                                ,
                                                                                                                                Gaël Nicolas
                                                                ,
                                                                                                                                Anne-Claire Richard
                                                                ,
                                                                                                                                Alexandra Afenjar
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                    hal-05290645
                                            v2
                                    
            
        
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     | 
        
        
            Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
        
                            
                                                                                                            Viorica Chelban
                                                                ,
                                                                                                                                Henriette Aksnes
                                                                ,
                                                                                                                                Reza Maroofian
                                                                ,
                                                                                                                                Lauren C Lamonica
                                                                ,
                                                                                                                                Luis Seabra
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                    hal-04905283
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            Human genetic structure in Northwest France provides new insights into West European historical demography
        
                            
                                                                                                            Isabel Alves
                                                                ,
                                                                                                                                Joanna Giemza
                                                                ,
                                                                                                                                Michael Blum
                                                                ,
                                                                                                                                Carolina Bernhardsson
                                                                ,
                                                                                                                                Stéphanie Chatel
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                    hal-04683810
                                            v2
                                    
            
        
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            Genome‐Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity
        
                            
                                                                                                            Blandine Gendre
                                                                ,
                                                                                                                                Angel Martinez-Perez
                                                                ,
                                                                                                                                Marcus Kleber
                                                                ,
                                                                                                                                Astrid van Hylckama Vlieg
                                                                ,
                                                                                                                                Anne Boland
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                    hal-04911771
                                            v1
                                    
            
        
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    | 
        
                                                 
                        
                     
                                    
     | 
        
        
            Microsatellite instability at U2AF-binding polypyrimidic tract sites perturbs alternative splicing during colorectal cancer initiation
        
                            
                                                                                                            Vincent Jonchère
                                                                ,
                                                                                                                                Hugo Montémont
                                                                ,
                                                                                                                                Enora Le Scanf
                                                                ,
                                                                                                                                Aurélie Siret
                                                                ,
                                                                                                                                Quentin Letourneur
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                    hal-05125917
                                            v1
                                    
            
        
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     | 
        
        
            SURFBAT: a surrogate family based association test building on large imputation reference panels
        
                            
                                                                                                            Anthony Herzig
                                                                ,
                                                                                                                                Simone Rubinacci
                                                                ,
                                                                                                                                Gaëlle Marenne
                                                                ,
                                                                                                                                Hervé Perdry
                                                                ,
                                                                                                                                Emmanuelle Génin
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                 Article dans une revue
                    
        
        
            
                
                    hal-05037568
                                            v1
                                    
            
        
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            Multiomic profiling of new-onset kidney function decline: insights from the STANISLAS study cohort with a 20-year follow-up
        
                            
                                                                                                            Vincent Dupont
                                                                ,
                                                                                                                                Constance Xhaard
                                                                ,
                                                                                                                                Isabelle Behm-Ansmant
                                                                ,
                                                                                                                                Emmanuel Bresso
                                                                ,
                                                                                                                                Quentin Thuillier
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                    hal-04660216
                                            v1
                                    
            
        
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     | 
        
        
            De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes
        
                            
                                                                                                            Yann Loe-Mie
                                                                ,
                                                                                                                                Christine Plançon
                                                                ,
                                                                                                                                Caroline Dubertret
                                                                ,
                                                                                                                                Takeo Yoshikawa
                                                                ,
                                                                                                                                Binnaz Yalcin
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-04609850
                                            v1
                                    
            
        
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            Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels
        
                            
                                                                                                            Mathilde André
                                                                ,
                                                                                                                                Nicolas Brucato
                                                                ,
                                                                                                                                Georgi Hudjasov
                                                                ,
                                                                                                                                Vasili Pankratov
                                                                ,
                                                                                                                                Danat Yermakovich
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                 Article dans une revue
                    
        
        
            
                
                    hal-04616627
                                            v1
                                    
            
        
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            Correction to: The CEPH aging cohort and biobank: a valuable collection of biological samples from exceptionally long‑lived French individuals and their offspring for longevity studies
        
                            
                                                                                                            Alexandre How-Kit
                                                                ,
                                                                                                                                Mourad Sahbatou
                                                                ,
                                                                                                                                Lise Hardy
                                                                ,
                                                                                                                                Nicolas Tessier
                                                                ,
                                                                                                                                Valérie Schiavon
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-05313985
                                            v1
                                    
            
        
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            Long Noncoding VIM-AS1: Biomarker of Breast Fibrosis Susceptibility After Radiation Therapy and Promoter of Transforming Growth Factor Beta1–Driven Fibrosis
        
                            
                                                                                                            Tatiana Vinasco-Sandoval
                                                                ,
                                                                                                                                Sandra Moratille
                                                                ,
                                                                                                                                Françoise Crechet
                                                                ,
                                                                                                                                Yasmina Mesloub
                                                                ,
                                                                                                                                Juliette Montanari
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-04910059
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            Layer myocardial strain is the most heritable echocardiographic trait
        
                            
                                                                                                            Olivier Huttin
                                                                ,
                                                                                                                                Constance Xhaard
                                                                ,
                                                                                                                                Claire Dandine-Roulland
                                                                ,
                                                                                                                                Edith Le Floch
                                                                ,
                                                                                                                                Delphine Bacq-Daian
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-04192912
                                            v1
                                    
            
        
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     | 
        
        
            Heritable defects in telomere and mitotic function selectively predispose to sarcomas
        
                            
                                                                                                            Mandy Ballinger
                                                                ,
                                                                                                                                Swetansu Pattnaik
                                                                ,
                                                                                                                                Piyushkumar Mundra
                                                                ,
                                                                                                                                Milita Zaheed
                                                                ,
                                                                                                                                Emma Rath
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-04188088
                                            v1
                                    
            
        
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     | 
        
        
            Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity
        
                            
                                                                                                            Lise Mangiante
                                                                ,
                                                                                                                                Nicolas Alcala
                                                                ,
                                                                                                                                Alexandra Sexton-Oates
                                                                ,
                                                                                                                                Alex Di Genova
                                                                ,
                                                                                                                                Abel Gonzalez-Perez
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                 Article dans une revue
                    
        
        
            
                
                    inserm-04062865
                                            v1
                                    
            
        
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     | 
        
        
            Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease
        
                            
                                                                                                            William Young
                                                                ,
                                                                                                                                Jeffrey Haessler
                                                                ,
                                                                                                                                Jan-Walter Benjamins
                                                                ,
                                                                                                                                Linda Repetto
                                                                ,
                                                                                                                                Jie Yao
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-04028558
                                            v1
                                    
            
        
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            WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
        
                            
                                                                                                            Adella Karam
                                                                ,
                                                                                                                                Clarisse Delvallée
                                                                ,
                                                                                                                                Alejandro Estrada-Cuzcano
                                                                ,
                                                                                                                                Véronique Geoffroy
                                                                ,
                                                                                                                                Jean-Baptiste Lamouche
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                 Article dans une revue
                    
        
        
            
                
                    hal-04188206
                                            v1
                                    
            
        
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     | 
        
        
            Risperidone response in patients with schizophrenia drives DNA methylation changes in immune and neuronal systems
        
                            
                                                                                                            Ana Lokmer
                                                                ,
                                                                                                                                Charanraj Goud Alladi
                                                                ,
                                                                                                                                Réjane Troudet
                                                                ,
                                                                                                                                Delphine Bacq-Daian
                                                                ,
                                                                                                                                Anne Boland-Auge
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                 Article dans une revue
                    
        
        
            
                
                    inserm-04044562
                                            v1
                                    
            
        
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     | 
        
        
            The CEPH aging cohort and biobank: a valuable collection of biological samples from exceptionally long-lived French individuals and their offspring for longevity studies
        
                            
                                                                                                            Alexandre How-Kit
                                                                ,
                                                                                                                                Mourad Sahbatou
                                                                ,
                                                                                                                                Lise M Hardy
                                                                ,
                                                                                                                                Nicolas P Tessier
                                                                ,
                                                                                                                                Valérie Schiavon
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    inserm-04787237
                                            v1
                                    
            
        
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     | 
        
        
            Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population
        
                            
                                                                                                            Fabrice Carrat
                                                                ,
                                                                                                                                Paola Mariela Saba Villarroel
                                                                ,
                                                                                                                                Nathanaël Lapidus
                                                                ,
                                                                                                                                Toscane Fourié
                                                                ,
                                                                                                                                Hélène Blanché
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                    hal-03737986
                                            v1
                                    
            
        
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     | 
        
        
            Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia
        
                            
                                                                                                            Youmna Ghaleb
                                                                ,
                                                                                                                                Sandy Elbitar
                                                                ,
                                                                                                                                Anne Philippi
                                                                ,
                                                                                                                                Petra El Khoury
                                                                ,
                                                                                                                                Yara Azar
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                 Article dans une revue
                    
        
        
            
                
                    hal-03642664
                                            v1
                                    
            
        
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            Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden
        
                            
                                                                                                            Aurélie a G Gabriel
                                                                ,
                                                                                                                                Joshua R Atkins
                                                                ,
                                                                                                                                Ricardo C C Penha
                                                                ,
                                                                                                                                Karl Smith-Byrne
                                                                ,
                                                                                                                                Valerie Gaborieau
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                 Article dans une revue
                    
        
        
            
                
                    hal-03914530
                                            v1
                                    
            
        
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            A Multimodal Omics Exploration of the Motor and Non-Motor Symptoms of Parkinson’s Disease
        
                            
                                                                                                            François-Xavier Lejeune
                                                                ,
                                                                                                                                Farid Ichou
                                                                ,
                                                                                                                                Etienne Camenen
                                                                ,
                                                                                                                                Benoit Colsch
                                                                ,
                                                                                                                                Florence Mauger
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                 Article dans une revue
                    
        
        
            
                
                    hal-04577644
                                            v1
                                    
            
        
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            Weak association between genetic markers of hyperuricemia and cardiorenal outcomes: insights from the STANISLAS study cohort with a 20‐year follow‐up
        
                            
                                                                                                            Mehmet Kanbay
                                                                ,
                                                                                                                                Constance Xhaard
                                                                ,
                                                                                                                                Edith Le Floch
                                                                ,
                                                                                                                                Claire Dandine-Roulland
                                                                ,
                                                                                                                                Nicolas Girerd
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                    hal-03652891
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            A functional operon delineates an extracellular pathway that controls body asymmetry only in animals with a ciliated left-right organizer
        
                            
                                                                                                            Emmanuelle Szenker-Ravi
                                                                ,
                                                                                                                                Tim Ott
                                                                ,
                                                                                                                                Muznah Khatoo
                                                                ,
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                    hal-03876795
                                            v1
                                    
            
        
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            Operational tolerance after hematopoietic stem cell transplantation is characterized by distinct transcriptional, phenotypic, and metabolic signatures
        
                            
                                                                                                            Laetitia Dubouchet
                                                                ,
                                                                                                                                Helena Todorov
                                                                ,
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                                                                ,
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                    hal-03599282
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            Global genome decompaction leads to stochastic activation of gene expression as a first step toward fate commitment in human hematopoietic cells
        
                            
                                                                                                            Romuald Parmentier
                                                                ,
                                                                                                                                Laëtitia Racine
                                                                ,
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                                                                ,
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                                                                ,
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                    hal-04025552
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            The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol
        
                            
                                                                                                            Catherine Lejeune
                                                                ,
                                                                                                                                Charley Robert-Viard
                                                                ,
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                                                                ,
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                    hal-03678712
                                            v1
                                    
            
        
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            Experimental evolution links post-transcriptional regulation to Leishmania fitness gain
        
                            
                                                                                                            Laura Piel
                                                                ,
                                                                                                                                K. Shanmugha Rajan
                                                                ,
                                                                                                                                Giovanni Bussotti
                                                                ,
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                                                                ,
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                    pasteur-03615912
                                            v1
                                    
            
        
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            Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development
        
                            
                                                                                                            Delfina M Romero
                                                                ,
                                                                                                                                Karine Poirier
                                                                ,
                                                                                                                                Richard Belvindrah
                                                                ,
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                                                                ,
                                                                                                                                Anne Houllier
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                    hal-03872724
                                            v1
                                    
            
        
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    | 
        
                            
                    
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            Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form associated genes provides new insights for molecular diagnosis and clinical management.
        
                            
                                                                                                            Adeline Goudal
                                                                ,
                                                                                                                                Matilde Karakachoff
                                                                ,
                                                                                                                                Pierre Lindenbaum
                                                                ,
                                                                                                                                Estelle Baron
                                                                ,
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                    hal-03722211
                                            v2
                                    
            
        
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            Fatty acid desaturase genetic variations and dietary omega-3 fatty acid intake associate with arterial stiffness
        
                            
                                                                                                            Magnus Bäck
                                                                ,
                                                                                                                                Constance Xhaard
                                                                ,
                                                                                                                                Raphael Rouget
                                                                ,
                                                                                                                                Quentin Thuillier
                                                                ,
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                    hal-03613927
                                            v1
                                    
            
        
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            Identification of risk loci for primary aldosteronism in genome-wide association studies
        
                            
                                                                                                            Edith Le Floch
                                                                ,
                                                                                                                                Teresa Cosentino
                                                                ,
                                                                                                                                Casper K Larsen
                                                                ,
                                                                                                                                Felix Beuschlein
                                                                ,
                                                                                                                                Martin Reincke
                                                                                            et al.
                            
                 
                            
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                    inserm-03845164
                                            v1
                                    
            
        
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     | 
        
        
            Papua New Guinean genomes reveal the complex settlement of north Sahul
        
                            
                                                                                                            Nicolas Brucato
                                                                ,
                                                                                                                                Mathilde André
                                                                ,
                                                                                                                                Roxanne Tsang
                                                                ,
                                                                                                                                Lauri Saag
                                                                ,
                                                                                                                                Jason Kariwiga
                                                                                            et al.
                            
                 
                            
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                    hal-03320801
                                            v1
                                    
            
        
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     | 
        
        
            Genetics of severe hypercholesterolemia in the general population
        
                            
                                                                                                            Constance Xhaard
                                                                ,
                                                                                                                                João Pedro Ferreira
                                                                ,
                                                                                                                                Edith Le Floch
                                                                ,
                                                                                                                                Zohra Lamiral
                                                                ,
                                                                                                                                Claire Dandine-Roulland
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                    hal-03579126
                                            v1
                                    
            
        
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            Region-specific expression of young small-scale duplications in the human central nervous system
        
                            
                                                                                                            Solène Brohard-Julien
                                                                ,
                                                                                                                                Vincent Frouin
                                                                ,
                                                                                                                                Vincent Meyer
                                                                ,
                                                                                                                                Smahane Chalabi
                                                                ,
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                    hal-03353892
                                            v1
                                    
            
        
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            Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
        
                            
                                                                                                            Xavière Lornage
                                                                ,
                                                                                                                                Martial Mallaret
                                                                ,
                                                                                                                                Roberto Silva-Rojas
                                                                ,
                                                                                                                                Valérie Biancalana
                                                                ,
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                    hal-03613299
                                            v1
                                    
            
        
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            Role of DNA Repair Variants and Diagnostic Radiology Exams in Differentiated Thyroid Cancer Risk: A Pooled Analysis of Two Case–Control Studies
        
                            
                                                                                                            Monia Zidane
                                                                ,
                                                                                                                                Thérèse Truong
                                                                ,
                                                                                                                                Fabienne Lesueur
                                                                ,
                                                                                                                                Constance Xhaard
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                                                                                                                                Emilie Cordina-Duverger
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                    hal-03378112
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations
        
                            
                                                                                                            Harilanto Razafindrazaka
                                                                ,
                                                                                                                                Veronica Pereda-Loth
                                                                ,
                                                                                                                                Camille Ferdenzi
                                                                ,
                                                                                                                                Margit Heiske
                                                                ,
                                                                                                                                Omar Alva
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                    hal-03432438
                                            v1
                                    
            
        
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     | 
        
        
            Heterogeneous Hunter-Gatherer and Steppe-Related Ancestries in Late Neolithic and Bell Beaker Genomes from Present-Day France
        
                            
                                                                                                            Andaine Seguin-Orlando
                                                                ,
                                                                                                                                Richard Donat
                                                                ,
                                                                                                                                Clio Der Sarkissian
                                                                ,
                                                                                                                                John Southon
                                                                ,
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                    hal-03150872
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            Antibody status and cumulative incidence of SARS-CoV-2 infection among adults in three regions of France following the first lockdown and associated risk factors: a multicohort study
        
                            
                                                                                                            Fabrice Carrat
                                                                ,
                                                                                                                                Xavier de Lamballerie
                                                                ,
                                                                                                                                Delphine Rahib
                                                                ,
                                                                                                                                Hélène Blanché
                                                                ,
                                                                                                                                Nathanael Lapidus
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                    hal-03600604
                                            v1
                                    
            
        
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            Association of ABO haplotypes with the risk of venous thrombosis: impact on disease risks estimation
        
                            
                                                                                                            Louisa Goumidi
                                                                ,
                                                                                                                                Florian Thibord
                                                                ,
                                                                                                                                Kerri Wiggins
                                                                ,
                                                                                                                                Ruifang Li-Gao
                                                                ,
                                                                                                                                Michael Brown
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                    hal-03135635
                                            v1
                                    
            
        
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     | 
        
        
            Risk Scores in ST-Segment Elevation Myocardial Infarction Patients with Refractory Cardiogenic Shock and Veno-Arterial Extracorporeal Membrane Oxygenation
        
                            
                                                                                                            Sophie Garnier
                                                                ,
                                                                                                                                Magdalena Harakalova
                                                                ,
                                                                                                                                Stefan Weiss
                                                                ,
                                                                                                                                Michal Mokry
                                                                ,
                                                                                                                                Vera Regitz-Zagrosek
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                    hal-03656015
                                            v1
                                    
            
        
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    | 
        
                                                 
                        
                     
                                    
     | 
        
        
            Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
        
                            
                                                                                                            Virginie Carmignac
                                                                ,
                                                                                                                                Cyril Mignot
                                                                ,
                                                                                                                                Emmanuelle Blanchard
                                                                ,
                                                                                                                                Paul Kuentz
                                                                ,
                                                                                                                                Marie-Hélène Aubriot-Lorton
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-03602381
                                            v1
                                    
            
        
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     | 
        
        
            Age, COVID-19-like symptoms and SARS-CoV-2 seropositivity profiles after the first wave of the pandemic in France
        
                            
                                                                                                            Fabrice Carrat
                                                                ,
                                                                                                                                Nathanael Lapidus
                                                                ,
                                                                                                                                Laetitia Ninove
                                                                ,
                                                                                                                                Hélène Blanché
                                                                ,
                                                                                                                                Delphine Rahib
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                    hal-03456505
                                            v1
                                    
            
        
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            MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
        
                            
                                                                                                            Laurence Colleaux
                                                                ,
                                                                                                                                Juliette Coursimault
                                                                ,
                                                                                                                                Anne-Marie Guerrot
                                                                ,
                                                                                                                                Michelle Morrow
                                                                ,
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                    hal-03472613
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            Genomic insights into population history and biological adaptation in Oceania
        
                            
                                                                                                            Jeremy Choin
                                                                ,
                                                                                                                                Javier Mendoza-Revilla
                                                                ,
                                                                                                                                Lara R Arauna
                                                                ,
                                                                                                                                Sebastian Cuadros-Espinoza
                                                                ,
                                                                                                                                Olivier Cassar
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                 Article dans une revue
                    
        
        
            
                
                    pasteur-03205291
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            Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
        
                            
                                                                                                            Antoine Rimbert
                                                                ,
                                                                                                                                Xavier Vanhoye
                                                                ,
                                                                                                                                Dramane Coulibaly
                                                                ,
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                                                                ,
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                 Article dans une revue
                    
        
        
            
                
                    hal-03105646
                                            v1
                                    
            
        
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            Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23
        
                            
                                                                                                            Sophie Garnier
                                                                ,
                                                                                                                                Magdalena Harakalova
                                                                ,
                                                                                                                                Stefan Weiss
                                                                ,
                                                                                                                                Michal Mokry
                                                                ,
                                                                                                                                Vera Regitz-Zagrosek
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                 Article dans une revue
                    
        
        
            
                
                    hal-03567179
                                            v1
                                    
            
        
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            Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
        
                            
                                                                                                            Kévin Uguen
                                                                ,
                                                                                                                                Kilannin Krysiak
                                                                ,
                                                                                                                                Séverine Audebert-Bellanger
                                                                ,
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                                                                ,
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                    hal-03282329
                                            v1
                                    
            
        
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     | 
        
        
            Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
        
                            
                                                                                                            Virginie Carmignac
                                                                ,
                                                                                                                                Cyril Mignot
                                                                ,
                                                                                                                                Emmanuelle Blanchard
                                                                ,
                                                                                                                                Paul Kuentz
                                                                ,
                                                                                                                                Marie-Hélène Aubriot-Lorton
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-03602359
                                            v1
                                    
            
        
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            Molecular profiling of advanced soft-tissue sarcomas: the MULTISARC randomized trial
        
                            
                                                                                                            Antoine Italiano
                                                                ,
                                                                                                                                Derek Dinart
                                                                ,
                                                                                                                                Isabelle Soubeyran
                                                                ,
                                                                                                                                Carine Bellera
                                                                ,
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                 Article dans une revue
                    
        
        
            
                
                    inserm-03472913
                                            v1
                                    
            
        
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            Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
        
                            
                                                                                                            Olivier Quenez
                                                                ,
                                                                                                                                Kevin Cassinari
                                                                ,
                                                                                                                                Sophie Coutant
                                                                ,
                                                                                                                                Francois Lecoquierre
                                                                ,
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                 Article dans une revue
                    
        
        
            
                
                    hal-02317979
                                            v2
                                    
            
        
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            A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
        
                            
                                                                                                            Clarisse Delvallée
                                                                ,
                                                                                                                                Samuel Nicaise
                                                                ,
                                                                                                                                Manuela Antin
                                                                ,
                                                                                                                                Anne-Sophie Leuvrey
                                                                ,
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                 Article dans une revue
                    
        
        
            
                
                    hal-03007093
                                            v1
                                    
            
        
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            Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and Polynesians
        
                            
                                                                                                            Julie Guibon
                                                                ,
                                                                                                                                Pierre-Emmanuel Sugier
                                                                ,
                                                                                                                                Om Kulkarni
                                                                ,
                                                                                                                                Mojgan Karimi
                                                                ,
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                 Article dans une revue
                    
        
        
            
                
                    hal-03378212
                                            v1
                                    
            
        
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     | 
        
        
            Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma
        
                            
                                                                                                            Om Kulkarni
                                                                ,
                                                                                                                                Pierre-Emmanuel Sugier
                                                                ,
                                                                                                                                Julie Guibon
                                                                ,
                                                                                                                                Anne Boland-Augé
                                                                ,
                                                                                                                                Christine Lonjou
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                    hal-03243030
                                            v1
                                    
            
        
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            Evaluation of saliva as a source of accurate wholegenome and microbiome sequencing data
        
                            
                                                                                                            Anthony Francis Herzig
                                                                ,
                                                                                                                                Lourdes Velo-Suárez
                                                                ,
                                                                                                                                Gaëlle Le Folgoc
                                                                ,
                                                                                                                                Anne Boland
                                                                ,
                                                                                                                                Hélène Blanché
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                    inserm-03526795
                                            v1
                                    
            
        
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            PIntMF: Penalized Integrative Matrix Factorization method for multi-omics data
        
                            
                                                                                                            Morgane Pierre-Jean
                                                                ,
                                                                                                                                Florence Mauger
                                                                ,
                                                                                                                                Jean-François Deleuze
                                                                ,
                                                                                                                                Edith Le Floch
                                                                                    
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-03154671
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas
        
                            
                                                                                                            Lenha Mobuchon
                                                                ,
                                                                                                                                Anne-Céline Derrien
                                                                ,
                                                                                                                                Alexandre Houy
                                                                ,
                                                                                                                                Thibault Verrier
                                                                ,
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                    hal-03326678
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon
        
                            
                                                                                                            Sylvie Labrouche-Colomer
                                                                ,
                                                                                                                                Omar Soukarieh
                                                                ,
                                                                                                                                Carole Proust
                                                                ,
                                                                                                                                Christine Mouton
                                                                ,
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                                                                                            et al.
                            
                 
                            
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                    inserm-03014711
                                            v1
                                    
            
        
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     | 
        
        
            PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort
        
                            
                                                                                                            Joao Pedro Ferreira
                                                                ,
                                                                                                                                Constance Xhaard
                                                                ,
                                                                                                                                Zohra Lamiral
                                                                ,
                                                                                                                                Marta Borges-Canha
                                                                ,
                                                                                                                                João Sérgio Neves
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                    hal-02611622
                                            v1
                                    
            
        
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            The Importance Of Naturally Attenuated Sars-Cov-2 In The Fight Against Covid-19
        
                            
                                                                                                            J. Armengaud
                                                                ,
                                                                                                                                Agnès Delaunay-Moisan
                                                                ,
                                                                                                                                Jean-Yves Thuret
                                                                ,
                                                                                                                                Eelco Van Anken
                                                                ,
                                                                                                                                Diego Acosta-Alvear
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                 Article dans une revue
                    
        
        
            
                
                    hal-02571406
                                            v1
                                    
            
        
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            Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
        
                            
                                                                                                            Thomas Husson
                                                                ,
                                                                                                                                François Lecoquierre
                                                                ,
                                                                                                                                Kevin Cassinari
                                                                ,
                                                                                                                                Camille Charbonnier
                                                                ,
                                                                                                                                Olivier Quenez
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                 Article dans une revue
                    
        
        
            
                
                    hal-02538173
                                            v1
                                    
            
        
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            A new genetic locus for antipsychotic-induced weight gain: A genome-wide study of first-episode psychosis patients using amisulpride (from the OPTiMiSE cohort)
        
                            
                                                                                                            Sophie ter Hark
                                                                ,
                                                                                                                                Stéphane Jamain
                                                                ,
                                                                                                                                Dick Schijven
                                                                ,
                                                                                                                                Bochao Lin
                                                                ,
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                    inserm-03130632
                                            v1
                                    
            
        
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            Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
        
                            
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            PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment
        
                            
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            Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation
        
                            
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            Gene expression and response prediction to amisulpride in the OPTiMiSE first episode psychoses
        
                            
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            POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
        
                            
                                                                                                            Elodie Sanchez
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            cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
        
                            
                                                                                                            Carolina Uggenti
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            Circulating plasma proteins and new-onset diabetes in a population-based study: proteomic and genomic insights from the STANISLAS cohort
        
                            
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            Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element
        
                            
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                    cea-04419422
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            Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
        
                            
                                                                                                            Sahar Elouej
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            Papuan mitochondrial genomes and the settlement of Sahul
        
                            
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            Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype
        
                            
                                                                                                            Lou Grangeon
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            Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder
        
                            
                                                                                                            François Lecoquierre
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            A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations
        
                            
                                                                                                            Kevin Cassinari
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            Genetic susceptibility to radiation-related differentiated thyroid cancers: a systematic review of literature
        
                            
                                                                                                            Monia Zidane
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            ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
        
                            
                                                                                                            Xavière Lornage
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                                                                ,
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            Deregulation of microRNA expression in monocytes and CD4+ T lymphocytes from patients with axial spondyloarthritis
        
                            
                                                                                                            Olivier Fogel
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            Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism
        
                            
                                                                                                            Sara Lindström
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            RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome
        
                            
                                                                                                            Nadjet Belbachir
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            LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
        
                            
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                    hal-01845043
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            Risk profile, quality of life and care of patients with moderate and advanced CKD : The French CKD-REIN Cohort Study
        
                            
                                                                                                            Benedicte Stengel
                                                                ,
                                                                                                                                Marie Metzger
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            Evidence of Austronesian Genetic Lineages in East Africa and South Arabia: Complex Dispersal from Madagascar and Southeast Asia
        
                            
                                                                                                            Nicolas Brucato
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                                                                                                                                Verónica Fernandes
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            Circadian genes and risk of prostate cancer: Findings from the EPICAP study
        
                            
                                                                                                            Méyomo Gaelle Wendeu-Foyet
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                                                                                                                                Yves Akoli Koudou
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            Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
        
                            
                                                                                                            Johann Böhm
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            Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders
        
                            
                                                                                                            Christina Zeitz
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            A meta-analysis of genome-wide association studies identifies multiple longevity genes
        
                            
                                                                                                            Joris Deelen
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            Bayesian Network Analysis of plasma microRNA sequencing data in patients with venous thrombosis
        
                            
                                                                                                            Florian Thibord
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            Both rare and common genetic variants contribute to autism in the Faroe Islands
        
                            
                                                                                                            Claire Leblond
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                    pasteur-02562551
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            Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease
        
                            
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                                                                                                                                Thomas Husson
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            Systematic analysis of TruSeq, SMARTer and SMARTer Ultra-Low RNA-seq kits for standard, low and ultra-low quantity samples.
        
                            
                                                                                                            Marie-Ange Palomares
                                                                ,
                                                                                                                                Cyril Dalmasso
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                    hal-02270990
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            OPTIMIR, a novel algorithm for integrating available genome-wide genotype data into miRNA sequence alignment analysis
        
                            
                                                                                                            Florian Thibord
                                                                ,
                                                                                                                                Claire Perret
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                    hal-02145961
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            A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families
        
                            
                                                                                                            Maeva Veyssière
                                                                ,
                                                                                                                                Javier Perea
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                    hal-02075447
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            Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations
        
                            
                                                                                                            Laura Gouder
                                                                ,
                                                                                                                                Aline Vitrac
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                    hal-02010139
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            Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia
        
                            
                                                                                                            Ana Uzquiano
                                                                ,
                                                                                                                                Carmen Cifuentes-Diaz
                                                                ,
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                    hal-02281812
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            Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
        
                            
                                                                                                            Chris Balak
                                                                ,
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                    hal-03023474
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            Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
        
                            
                                                                                                            Camille Lemattre
                                                                ,
                                                                                                                                Marion Imbert-Bouteille
                                                                ,
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                    hal-02180849
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            Genetic Data, Two-Sided Markets and Dynamic Consent: United States Versus France
        
                            
                                                                                                            Henri-Corto Stoeklé
                                                                ,
                                                                                                                                Mauro Turrini
                                                                ,
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                    hal-03355813
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            Mitochondrial ncRNA targeting induces cell cycle arrest and tumor growth inhibition of MDA-MB-231 breast cancer cells through reduction of key cell cycle progression factors
        
                            
                                                                                                            Christopher Fitzpatrick
                                                                ,
                                                                                                                                Maximiliano Bendek
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                    hal-02862321
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            Pathway analysis integrating genome-wide and functional data identifies PLCG2 as a candidate gene for age-related macular degeneration
        
                            
                                                                                                            Andrea R Waksmunski
                                                                ,
                                                                                                                                Michelle Grunin
                                                                ,
                                                                                                                                Tyler G Kinzy
                                                                ,
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                    cea-04449535
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            Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
        
                            
                                                                                                            Rahel Florian
                                                                ,
                                                                                                                                Florian Kraft
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                    pasteur-02562487
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            Low temperature isothermal amplification of microsatellites drastically reduces stutter artifact formation and improves microsatellite instability detection in cancer
        
                            
                                                                                                            Antoine Daunay
                                                                ,
                                                                                                                                Alex Duval
                                                                ,
                                                                                                                                Laura G Baudrin
                                                                ,
                                                                                                                                Olivier Buhard
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                    hal-02426602
                                            v1
                                    
            
        
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            Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years
        
                            
                                                                                                            Morgane Lacour
                                                                ,
                                                                                                                                Olivier Quenez
                                                                ,
                                                                                                                                Anne Rovelet-Lecrux
                                                                ,
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                    hal-02332506
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            Heritability of a resting heart rate in a 20-year follow-up family cohort with GWAS data: Insights from the STANISLAS cohort
        
                            
                                                                                                            Constance Xhaard
                                                                ,
                                                                                                                                Claire Dandine-Roulland
                                                                ,
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                                                                ,
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                    hal-02515914
                                            v1
                                    
            
        
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     | 
        
        
            Glucocorticoids delay RAF-induced senescence promoted by EGR1
        
                            
                                                                                                            Cyril Carvalho
                                                                ,
                                                                                                                                Valentin L'Hôte
                                                                ,
                                                                                                                                Régis Courbeyrette
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                    hal-02330078
                                            v1
                                    
            
        
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            Clustering and variable selection evaluation of 13 unsupervised methods for multi-omics data integration
        
                            
                                                                                                            Morgane Pierre-Jean
                                                                ,
                                                                                                                                Jean-François Deleuze
                                                                ,
                                                                                                                                Edith Le Floch
                                                                ,
                                                                                                                                Florence Mauger
                                                                                    
                 
                            
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                    cea-02393847
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
        
                            
                                                                                                            Chris Balak
                                                                ,
                                                                                                                                Marianne Bénard
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                                                                ,
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                    hal-02271087
                                            v1
                                    
            
        
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            B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
        
                            
                                                                                                            Kevin Yauy
                                                                ,
                                                                                                                                Frederic Tran Mau-Them
                                                                ,
                                                                                                                                Marjolaine Willems
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                    hal-01634463
                                            v1
                                    
            
        
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            Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient
        
                            
                                                                                                            Kilan Le Guennec
                                                                ,
                                                                                                                                Hélène Tubeuf
                                                                ,
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                    hal-02356252
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            Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
        
                            
                                                                                                            Rainiero Ávila-Polo
                                                                ,
                                                                                                                                Edoardo Malfatti
                                                                ,
                                                                                                                                Xavière Lornage
                                                                ,
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                    hal-02332968
                                            v1
                                    
            
        
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            Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
        
                            
                                                                                                            Thomas Husson
                                                                ,
                                                                                                                                Jean-Baptiste Duboc
                                                                ,
                                                                                                                                Olivier Quenez
                                                                ,
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                    hal-02540043
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            The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor
        
                            
                                                                                                            Nicolas Brucato
                                                                ,
                                                                                                                                Verónica Fernandes
                                                                ,
                                                                                                                                Stéphane Mazières
                                                                ,
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                    hal-02112694
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            Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
        
                            
                                                                                                            Mirna Assoum
                                                                ,
                                                                                                                                Matthew Lines
                                                                ,
                                                                                                                                Orly Elpeleg
                                                                ,
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                    hal-01990608
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            Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR
        
                            
                                                                                                            Alexandre How-Kit
                                                                ,
                                                                                                                                Antoine Daunay
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                    cea-02291352
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            Analysis of shared heritability in common disorders of the brain
        
                            
                                                                                                            Verneri Anttila
                                                                ,
                                                                                                                                Brenda Sullivan
                                                                ,
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                    cea-01870483
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            Strong selection during the last millennium for African ancestry in the admixed population of Madagascar
        
                            
                                                                                                            Denis Pierron
                                                                ,
                                                                                                                                Margit Heiske
                                                                ,
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                    hal-02112693
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            La propriété des données génétiques
        
                            
                                                                                                            Henri-Corto Stoeklé
                                                                ,
                                                                                                                                Ninon Forster
                                                                ,
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                    cea-02291346
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            Improved microsatellite instability detection and identification by nuclease-assisted microsatellite instability enrichment using HSP110 T17
        
                            
                                                                                                            Laura G. Baudrin
                                                                ,
                                                                                                                                Alex Duval
                                                                ,
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                    cea-02291366
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            Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families
        
                            
                                                                                                            P. H. Jonson
                                                                ,
                                                                                                                                J. Palmio
                                                                ,
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                    hal-02304997
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            Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
        
                            
                                                                                                            Charles Coutton
                                                                ,
                                                                                                                                Alexandra S. Vargas
                                                                ,
                                                                                                                                Amir Amiri-Yekta
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                    hal-01724640
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            Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
        
                            
                                                                                                            Xavière Lornage
                                                                ,
                                                                                                                                Pascal Sabouraud
                                                                ,
                                                                                                                                Béatrice Lannes
                                                                ,
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                                                                ,
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                    hal-03664348
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            Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
        
                            
                                                                                                            Romain Bourcier
                                                                ,
                                                                                                                                Solena Le Scouarnec
                                                                ,
                                                                                                                                Stéphanie Bonnaud
                                                                ,
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                    hal-01808225
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            Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
        
                            
                                                                                                            Ivana Dabaj
                                                                ,
                                                                                                                                Robert Carlier
                                                                ,
                                                                                                                                David Gomez-Andres
                                                                ,
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                    hal-03670930
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            Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
        
                            
                                                                                                            Laura Mary
                                                                ,
                                                                                                                                Amélie Piton
                                                                ,
                                                                                                                                Elise Schaefer
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                    hal-01870355
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            Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer’s disease
        
                            
                                                                                                            Kelly Ceyzériat
                                                                ,
                                                                                                                                Lucile Ben Haim
                                                                ,
                                                                                                                                Audrey Denizot
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                    hal-02074082
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            Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state
        
                            
                                                                                                            Guillaume Velasco
                                                                ,
                                                                                                                                Giacomo Grillo
                                                                ,
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                                                                ,
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                    cea-01833124
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            MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data
        
                            
                                                                                                            Waqasuddin Khan
                                                                ,
                                                                                                                                Ganapathi Varma Saripella
                                                                ,
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                    hal-01835282
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            Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
        
                            
                                                                                                            Claire Guissart
                                                                ,
                                                                                                                                Xenia Latypova
                                                                ,
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                                                                ,
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                    hal-01796580
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            Genome-Wide Association Study Identifies a Novel Genetic Risk Factor for Recurrent Venous Thrombosis
        
                            
                                                                                                            Hugoline G. de Haan
                                                                ,
                                                                                                                                Astrid van Hylckama Vlieg
                                                                ,
                                                                                                                                Marine Germain
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                                                                                                                                Trevor P. Baglin
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                    cea-02291349
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            Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
        
                            
                                                                                                            Virginie Haushalter
                                                                ,
                                                                                                                                Supawich Morkmued
                                                                ,
                                                                                                                                Corinne Stoetzel
                                                                ,
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                                                                ,
                                                                                                                                Jean Muller
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                    hal-03671924
                                            v1
                                    
            
        
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            Systemic AA amyloidosis caused by inflammatory hepatocellular adenoma
        
                            
                                                                                                            Julien Calderaro
                                                                ,
                                                                                                                                Eric Letouzé
                                                                ,
                                                                                                                                Quentin Bayard
                                                                ,
                                                                                                                                Anais Boulai
                                                                ,
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                    cea-02415425
                                            v1
                                    
            
        
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            STAT3 Mediates Nilotinib Response in KIT-Altered Melanoma: A Phase II Multicenter Trial of the French Skin Cancer Network
        
                            
                                                                                                            Julie Delyon
                                                                ,
                                                                                                                                Sylvie Chevret
                                                                ,
                                                                                                                                Thomas Jouary
                                                                ,
                                                                                                                                Sophie Dalac
                                                                ,
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                    hal-01983526
                                            v1
                                    
            
        
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            Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
        
                            
                                                                                                            Véronique Geoffroy
                                                                ,
                                                                                                                                Corinne Stoetzel
                                                                ,
                                                                                                                                Sophie Scheidecker
                                                                ,
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                                                                ,
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                    hal-02371583
                                            v1
                                    
            
        
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            Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
        
                            
                                                                                                            Vanessa Schartner
                                                                ,
                                                                                                                                Norma Romero
                                                                ,
                                                                                                                                Sandra Donkervoort
                                                                ,
                                                                                                                                Susan Treves
                                                                ,
                                                                                                                                Pinki Munot
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                    hal-03676425
                                            v1
                                    
            
        
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            Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds
        
                            
                                                                                                            Ludovic Arandel
                                                                ,
                                                                                                                                Micaela Polay Espinoza
                                                                ,
                                                                                                                                Magdalena Matloka
                                                                ,
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                                                                ,
                                                                                                                                Damily de Dea Diniz
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                    hal-01519721
                                            v1
                                    
            
        
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            Bdf1 Bromodomains Are Essential for Meiosis and the Expression of Meiotic-Specific Genes
        
                            
                                                                                                            Encar García-Oliver
                                                                ,
                                                                                                                                Claire Ramus
                                                                ,
                                                                                                                                Jonathan Perot
                                                                ,
                                                                                                                                Marie Arlotto
                                                                ,
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                    hal-02083619
                                            v1
                                    
            
        
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            Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
        
                            
                                                                                                            Rebecca Sims
                                                                ,
                                                                                                                                Sven van Der Lee
                                                                ,
                                                                                                                                Adam Naj
                                                                ,
                                                                                                                                Céline Bellenguez
                                                                ,
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                 Article dans une revue
                    
        
        
            
                
                    inserm-02466466
                                            v1
                                    
            
        
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            Comparison of the quantification of KRAS mutations by digital PCR and E-ice-COLD-PCR in circulating-cell-free DNA from metastatic colorectal cancer patients
        
                            
                                                                                                            David Sefrioui
                                                                ,
                                                                                                                                Florence Mauger
                                                                ,
                                                                                                                                Laurence Leclere
                                                                ,
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                                                                ,
                                                                                                                                Frédéric Di Fiore
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                    hal-02353197
                                            v1
                                    
            
        
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            Association of impaired renal function with venous thrombosis: A genetic risk score approach
        
                            
                                                                                                            Romain Charmet
                                                                ,
                                                                                                                                Astrid van Hylckama Vlieg
                                                                ,
                                                                                                                                Marine Germain
                                                                ,
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                                                                ,
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                 Article dans une revue
                    
        
        
            
                
                    hal-01581823
                                            v1
                                    
            
        
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     | 
        
        
            Homozygous truncating variants in TBC1D23 cause pontocerebellar hypoplasia and alter cortical development
        
                            
                                                                                                            Ekaterina Ivanova
                                                                ,
                                                                                                                                F Mau-Them
                                                                ,
                                                                                                                                Saima Riazuddin
                                                                ,
                                                                                                                                Kimia Kahrizi
                                                                ,
                                                                                                                                Vincent Laugel
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                 Article dans une revue
                    
        
        
            
                
                    hal-03677799
                                            v1
                                    
            
        
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            Genome-Wide Methylation Analysis Identifies Specific Epigenetic Marks In Severely Obese Children
        
                            
                                                                                                            Delphine Fradin
                                                                ,
                                                                                                                                Pierre-Yves Boëlle
                                                                ,
                                                                                                                                Marie-Pierre Belot
                                                                ,
                                                                                                                                Fanny Lachaux
                                                                ,
                                                                                                                                Jorg Tost
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                 Article dans une revue
                    
        
        
            
                
                    hal-01516806
                                            v1
                                    
            
        
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     | 
        
        
            17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
        
                            
                                                                                                            K. Le Guennec
                                                                ,
                                                                                                                                O. Quenez
                                                                ,
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                    hal-01832142
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            Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
        
                            
                                                                                                            Paul Saultier
                                                                ,
                                                                                                                                Lea Vidal
                                                                ,
                                                                                                                                Matthias Canault
                                                                ,
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                    hal-01600750
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            Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
        
                            
                                                                                                            Osorio Abath Neto
                                                                ,
                                                                                                                                Carlos Heise
                                                                ,
                                                                                                                                Cristiane de Araújo Martins Moreno
                                                                ,
                                                                                                                                Eduardo de Paula Estephan
                                                                ,
                                                                                                                                Lilia Mesrob
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                    hal-03679178
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            Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A
        
                            
                                                                                                            S. Mercier
                                                                ,
                                                                                                                                X. Lornage
                                                                ,
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                    hal-01721408
                                            v1
                                    
            
        
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            Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk
        
                            
                                                                                                            P. Suchon
                                                                ,
                                                                                                                                Marie Germain
                                                                ,
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                                                                                                                                X. Jouven
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                    hal-01517355
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            Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
        
                            
                                                                                                            V. Biancalana
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                    hal-01721411
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            Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing
        
                            
                                                                                                            Mathieu Cerino
                                                                ,
                                                                                                                                Svetlana Gorokhova
                                                                ,
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                    hal-01741741
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            Genomic landscape of human diversity across Madagascar
        
                            
                                                                                                            Denis Pierron
                                                                ,
                                                                                                                                Margit Heiske
                                                                ,
                                                                                                                                Harilanto Razafindrazaka
                                                                ,
                                                                                                                                Ignace Rakoto
                                                                ,
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                    hal-02112696
                                            v1
                                    
            
        
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            Contribution to Alzheimer's disease risk of rare variants in TREM_2, SORL_1, and ABCA_7 in 1779 cases and 1273 controls
        
                            
                                                                                                            Céline Bellenguez
                                                                ,
                                                                                                                                Camille Charbonnier
                                                                ,
                                                                                                                                Benjamin Grenier-Boley
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                    hal-01760388
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            A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype
        
                            
                                                                                                            Gaël Manes
                                                                ,
                                                                                                                                Willy Joly
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                                                                                                                                Thomas Guignard
                                                                ,
                                                                                                                                Vasily Smirnov
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                                                                                                                                Sylvie Berthemy
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                    hal-01743907
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            Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
        
                            
                                                                                                            Ange-Line Bruel
                                                                ,
                                                                                                                                Brunella Franco
                                                                ,
                                                                                                                                Yannis Duffourd
                                                                ,
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                                                                ,
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                    hal-01789377
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            Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
        
                            
                                                                                                            Osorio Abath Neto
                                                                ,
                                                                                                                                Cristiane de Araujo Martins Moreno
                                                                ,
                                                                                                                                Edoardo Malfatti
                                                                ,
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                                                                ,
                                                                                                                                Johann Bohm
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                    hal-01741730
                                            v1
                                    
            
        
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            Pulmonary endothelial cell DNA methylation signature in pulmonary arterial hypertension
        
                            
                                                                                                            Aurélie Hautefort
                                                                ,
                                                                                                                                Julie Chesné
                                                                ,
                                                                                                                                Jens Preussner
                                                                ,
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                                                                ,
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                    hal-01832105
                                            v1
                                    
            
        
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            Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
        
                            
                                                                                                            Ange-Line Bruel
                                                                ,
                                                                                                                                Stefania Bigoni
                                                                ,
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                                                                ,
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                                                                ,
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                    hal-01625676
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            Genome-Wide Methylation Analysis Identifies Specific Epigenetic Marks In Severely Obese Children
        
                            
                                                                                                            Delphine Fradin
                                                                ,
                                                                                                                                Pierre-Yves Boëlle
                                                                ,
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                                                                ,
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                                                                ,
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                    inserm-02320512
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            Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression
        
                            
                                                                                                            Kévin Contrepois
                                                                ,
                                                                                                                                Clément Coudereau
                                                                ,
                                                                                                                                Bérénice Benayoun
                                                                ,
                                                                                                                                Nadine Schüler
                                                                ,
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                    cea-02143246
                                            v1
                                    
            
        
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            ABCA7 rare variants and Alzheimer disease risk
        
                            
                                                                                                            Kilan Le Guennec
                                                                ,
                                                                                                                                Gaël Nicolas
                                                                ,
                                                                                                                                Olivier Quenez
                                                                ,
                                                                                                                                Camille Charbonnier
                                                                ,
                                                                                                                                David Wallon
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                    hal-01831744
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            Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia
        
                            
                                                                                                            Loic Broix
                                                                ,
                                                                                                                                Hélène Jagline
                                                                ,
                                                                                                                                Ekaterina L Ivanova
                                                                ,
                                                                                                                                Stéphane Schmucker
                                                                ,
                                                                                                                                Nathalie Drouot
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                    hal-02371039
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            Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
        
                            
                                                                                                            Ange-Line Bruel
                                                                ,
                                                                                                                                Alice Masurel-Paulet
                                                                ,
                                                                                                                                Jean-Baptiste Rivière
                                                                ,
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                    hal-01405113
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            Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations
        
                            
                                                                                                            Hélène Quach
                                                                ,
                                                                                                                                Maxime Rotival
                                                                ,
                                                                                                                                Julien Pothlichet
                                                                ,
                                                                                                                                Yong-Hwee eddie Loh
                                                                ,
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                    pasteur-01385620
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            Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
        
                            
                                                                                                            Jane Merlevede
                                                                ,
                                                                                                                                Nathalie Droin
                                                                ,
                                                                                                                                Tingting Qin
                                                                ,
                                                                                                                                Kristen Meldi
                                                                ,
                                                                                                                                Kenichi Yoshida
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                    hal-03130526
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            Genome-wide nucleosome specificity and function of chromatin remodellers in ES cells
        
                            
                                                                                                            Maud de Dieuleveult
                                                                ,
                                                                                                                                Kuangyu Yen
                                                                ,
                                                                                                                                Isabelle Hmitou
                                                                ,
                                                                                                                                Arnaud Depaux
                                                                ,
                                                                                                                                Fayçal Boussouar
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                    hal-01412602
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            Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
        
                            
                                                                                                            Gina L. O’grady
                                                                ,
                                                                                                                                Heather A. Best
                                                                ,
                                                                                                                                Tamar E. Sztal
                                                                ,
                                                                                                                                Vanessa Schartner
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                    hal-02371579
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            Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes
        
                            
                                                                                                            Elsa Curtit
                                                                ,
                                                                                                                                Xavier Pivot
                                                                ,
                                                                                                                                Julie Henriques
                                                                ,
                                                                                                                                Sophie Paget-Bailly
                                                                ,
                                                                                                                                Pierre Fumoleau
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                    inserm-01577637
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            Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
        
                            
                                                                                                            Julia Lauer Zillhardt
                                                                ,
                                                                                                                                Karine Poirier
                                                                ,
                                                                                                                                Loic Broix
                                                                ,
                                                                                                                                Nicolas Lebrun
                                                                ,
                                                                                                                                Adrienne Elmorjani
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                    hal-01313739
                                            v1
                                    
            
        
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            GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients
        
                            
                                                                                                            David G Cox
                                                                ,
                                                                                                                                Elsa Curtit
                                                                ,
                                                                                                                                Gilles G Romieu
                                                                ,
                                                                                                                                Pierre G Fumoleau
                                                                ,
                                                                                                                                Maria Rios
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                    hal-01391480
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            A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers
        
                            
                                                                                                            Anthony Ferrari
                                                                ,
                                                                                                                                Anne Vincent-Salomon
                                                                ,
                                                                                                                                Xavier Pivot
                                                                ,
                                                                                                                                Anne-Sophie Sertier
                                                                ,
                                                                                                                                Emile Thomas
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                    hal-01388446
                                            v1
                                    
            
        
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            Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
        
                            
                                                                                                            Suzanne Lesage
                                                                ,
                                                                                                                                Valérie Drouet
                                                                ,
                                                                                                                                Elisa Majounie
                                                                ,
                                                                                                                                Vincent Deramecourt
                                                                ,
                                                                                                                                Maxime Jacoupy
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                    hal-01289266
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            Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
        
                            
                                                                                                            Gaël Nicolas
                                                                ,
                                                                                                                                David Wallon
                                                                ,
                                                                                                                                Camille Charbonnier
                                                                ,
                                                                                                                                Olivier Quenez
                                                                ,
                                                                                                                                Stéphane Rousseau
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-01431285
                                            v1
                                    
            
        
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            Cohorte française Chronic Kidney Disease–Réseau Épidémiologie et Information en Néphrologie (CKD-REIN) : mieux connaître la maladie rénale chronique
        
                            
                                                                                                            Benedicte Stengel
                                                                ,
                                                                                                                                Christian Combe
                                                                ,
                                                                                                                                Christian Jacquelinet
                                                                ,
                                                                                                                                Serge Briançon
                                                                ,
                                                                                                                                Denis Fouque
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                 Article dans une revue
                    
                    istex
        
        
            
                
                    hal-01797448
                                            v1
                                    
            
        
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            Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing
        
                            
                                                                                                            S. David
                                                                ,
                                                                                                                                Jorge Ferreira
                                                                ,
                                                                                                                                O. Quenez
                                                                ,
                                                                                                                                A. Rovelet-Lecrux
                                                                ,
                                                                                                                                A.-C. Richard
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                    hal-01397791
                                            v1
                                    
            
        
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            Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
        
                            
                                                                                                            Jane Merlevede
                                                                ,
                                                                                                                                Nathalie Droin
                                                                ,
                                                                                                                                Tingting Qin
                                                                ,
                                                                                                                                Kristen Meldi
                                                                ,
                                                                                                                                Kenichi Yoshida
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                 Article dans une revue
                    
        
        
            
                
                    hal-05269309
                                            v1
                                    
            
        
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            Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
        
                            
                                                                                                            Stéphanie Bauché
                                                                ,
                                                                                                                                Seana O’regan
                                                                ,
                                                                                                                                Yoshiteru Azuma
                                                                ,
                                                                                                                                Fanny Laffargue
                                                                ,
                                                                                                                                Grace Mcmacken
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                    hal-01680226
                                            v1
                                    
            
        
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            Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.
        
                            
                                                                                                            Marine Germain
                                                                ,
                                                                                                                                Daniel I Chasman
                                                                ,
                                                                                                                                Hugoline de Haan
                                                                ,
                                                                                                                                Weihong Tang
                                                                ,
                                                                                                                                Sara Lindström
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                    hal-01259946
                                            v1
                                    
            
        
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            In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin
        
                            
                                                                                                            Delphine Laustriat
                                                                ,
                                                                                                                                Jacqueline Gide
                                                                ,
                                                                                                                                Laetitia Barrault
                                                                ,
                                                                                                                                Emilie Chautard
                                                                ,
                                                                                                                                Clara Benoit
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                 Article dans une revue
                    
        
        
            
                
                    hal-01277500
                                            v1
                                    
            
        
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            The French Chronic Kidney Disease-Renal Epidemiology and Information Network (CKD-REIN) cohort study
        
                            
                                                                                                            Bénédicte Stengel
                                                                ,
                                                                                                                                Christian Combe
                                                                ,
                                                                                                                                Christian Jacquelinet
                                                                ,
                                                                                                                                Serge Briançon
                                                                ,
                                                                                                                                Denis Fouque
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-00932387
                                            v1
                                    
            
        
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            Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human
        
                            
                                                                                                            Michel Kielar
                                                                ,
                                                                                                                                Francoise Phan Dinh Tuy
                                                                ,
                                                                                                                                Sara Bizzotto
                                                                ,
                                                                                                                                Cécile Lebrand
                                                                ,
                                                                                                                                Camino De Juan Romero
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                 Article dans une revue
                    
        
        
            
                
                    hal-01514452
                                            v1
                                    
            
        
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            Selection of SNP subsets for association studies in candidate genes: comparison of the power of different strategies to detect single disease susceptibility locus effects.
        
                            
                                                                                                            Emmanuelle Cousin
                                                                ,
                                                                                                                                Jean-François Deleuze
                                                                ,
                                                                                                                                Emmanuelle Génin
                                                                                    
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    inserm-00080416
                                            v1
                                    
            
        
     |