jean-francois deleuze

231
Documents
Affiliations actuelles
  • Centre National de Recherche en Génomique Humaine (CNRGH)
  • Fondation Jean Dausset - Centre d’Etudes du Polymorphisme Humain [Paris] (CEPH)
  • Centre de référence, d’innovation, d’expertise et de transfert (CRefIX)
  • France Génomique (UMS CNRS 3628 - INRAE 1396 - Inserm 026)
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Publications

Publications

Genomics of Long-Term Complications of Childhood Leukemia: Rationale and Design of the GenLEA Study

Mathilde Veneziano-Broccia , Gerard Michel , Jean-Hugues Dalle , Jean-François Deleuze , Robert Olaso et al.

Pediatric Blood and Cancer, 2026, Online ahead of print. ⟨10.1002/1545-5017.70027⟩

Article dans une revue hal-05454050v1
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Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm

Milène Fréneau , Raphael Blanchet , Maxence Bodet , Sandro Benichi , Mary-Adel Mrad et al.

Cardiovascular Research, 2026, 2026, pp.cvaf279

Article dans une revue hal-05477295v1
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Genome-wide association study of event-free survival in follicular lymphoma patients treated with front-line immunochemotherapy

Hervé Ghesquières , Youenn Drouet , Susan L Slager , Franck Morschhauser , Edith Julia et al.

Blood Cancer Journal, 2026, Online ahead of print. ⟨10.1038/s41408-025-01435-1⟩

Article dans une revue hal-05477261v1
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Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome

Emilie Montellier , Olivier Manches , Jonathan Gaucher , Claire Freycon , David Hoyos et al.

EBioMedicine, 2026, 123, pp.106065. ⟨10.1016/j.ebiom.2025.106065⟩

Article dans une revue hal-05430020v1
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Assessing the integrity of SARS-CoV-2 and F-specific RNA bacteriophage RNA in raw wastewater (ANRS0160)

Ahlam Chaqroun , Julie Challant , Hélène Jeulin , Julie Loutreul , Thomas Ansmant et al.

Water Research, 2026, 289 (Part B), pp.125002. ⟨10.1016/j.watres.2025.125002⟩

Article dans une revue hal-05382421v1
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An ancient DNA perspective on the Russian conquest of Yakutia

Éric Crubézy , Perle Guarino-Vignon , Andaine Seguin-Orlando , Clio Der Sarkissian , Kristian Hanghøj et al.

Nature, 2026, 650, pp.389-398. ⟨10.1038/s41586-025-09856-5⟩

Article dans une revue hal-05465734v1
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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 et al.

International Journal of Molecular Sciences, 2025, 26 (8), pp.3825. ⟨10.3390/ijms26083825⟩

Article dans une revue hal-05160008v1
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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 , Masataka Kikuchi et al.

Nature Genetics, 2025, 57 (7), pp.1598-1610. ⟨10.1038/s41588-025-02227-w⟩

Article dans une revue hal-05313678v1
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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.

International Journal of Legal Medicine, 2025, 139 (4), pp.1511-1527. ⟨10.1007/s00414-025-03448-8⟩

Article dans une revue hal-05159911v1
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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 , Antoine Daunay , Marc Delépine et al.

Nucleic Acids Research, 2025, 53 (5), ⟨10.1093/nar/gkaf131⟩

Article dans une revue hal-05159888v1
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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 et al.

Genome Medicine, 2025, 17 (1), pp.110. ⟨10.1186/s13073-025-01527-4⟩

Article dans une revue hal-05299261v1
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Using blood methylomes to predict response to amisulpride in the first-episode psychosis in the OPTiMiSE cohort

Ana Lokmer , Réjane Troudet , Delphine Bacq-Daian , Anne Boland-Auge , Caroline Barau et al.

Translational Psychiatry, 2025, 15, pp.369. ⟨10.1038/s41398-025-03561-7⟩

Article dans une revue hal-05406311v1
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Leveraging knowledge for explainable AI in personalized cancer treatment: challenges and future directions

Emilia Daghir-Wojtkowiak , Javier Alfaro , Michele Mastromattei , Aleksander Palkowski , Mark Stares et al.

Frontiers in Digital Health, 2025, 7, ⟨10.3389/fdgth.2025.1637195⟩

Article dans une revue hal-05371689v1

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.

Journal of Antimicrobial Chemotherapy, 2025, ⟨10.1093/jac/dkae475⟩

Article dans une revue hal-04954157v1
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Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease

Olav Andersen , Matthijs de Waal , Giulia Monti , Niccolo Tesi , Anne Mette G. Jensen et al.

Molecular Neurodegeneration, 2025, 20 (1), pp.122. ⟨10.1186/s13024-025-00907-z⟩

Article dans une revue hal-05406809v1
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Hair follicle stem cell fate supports distinct clinical endotypes in hidradenitis suppurativa

Audrey Onfroy , Francette Jean-Louis , Philippe Le Corvoisier , Fanny Coulpier , Kevin Muret et al.

Journal of the European Academy of Dermatology and Venereology, 2025, ⟨10.1111/jdv.70152⟩

Article dans une revue hal-05134707v2

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 et al.

BMC Genomics, 2025, 26 (1), pp.698. ⟨10.1186/s12864-025-11792-7⟩

Article dans une revue hal-05216377v1
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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.

Clinical Epigenetics, 2025, 17 (1), pp.118. ⟨10.1186/s13148-025-01893-1⟩

Article dans une revue hal-05159990v1
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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 et al.

Aging Cell, 2025, ⟨10.1111/acel.70133⟩

Article dans une revue hal-05159922v1
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Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing

Grégoire Blavier , François Lecoquierre , Anne-Marie Guerrot , Géraldine Joly Hélas , Stéphane Rondeau et al.

Molecular Cytogenetics, 2025, ⟨10.1186/s13039-025-00740-5⟩

Article dans une revue hal-05408693v1
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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.

MethodsX, 2025, 14, pp.103323. ⟨10.1016/j.mex.2025.103323⟩

Article dans une revue hal-05075846v1

Molecular determinants of thrombosis recurrence risk across venous thromboembolism subtypes

Gaëlle Munsch , Florian Thibord , Ohanna Bezerra , Jennifer Brody , Astrid van Hylckama Vlieg et al.

Blood, 2025, 146 (19), pp.2357-2369. ⟨10.1182/blood.2024027879⟩

Article dans une revue hal-05406993v1
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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 et al.

Nature Communications, 2025, 16 (1), pp.2197. ⟨10.1038/s41467-025-57305-8⟩

Article dans une revue hal-04987274v1

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 et al.

The Breast, 2025, 84, pp.104580. ⟨10.1016/j.breast.2025.104580⟩

Article dans une revue hal-05289834v1
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GNNenrich: a novel method for pathway enrichment analysis based on graph neural network

Mallek Mziou-Sallami , Pierrick Roger , Arnaud Gloaguen , Claire Dandine-Roulland , Thierry Jiogho Ngaho et al.

Bioinformatics, 2025, 41 (9), pp.btaf478. ⟨10.1093/bioinformatics/btaf478⟩

Article dans une revue hal-05492025v1

Multiparametric profiling of plasma cell-free nucleic acids in nonagenarians and centenarians highlights age-related differences associated with longevity

Nicolas Tessier , Lise Hardy , Florence Mauger , Antoine Daunay , Christian Daviaud et al. Article dans une revue hal-05406576v1

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 , Steeve Fourneaux et al.

PLoS Genetics, 2025, 21 (3), pp.e1011651. ⟨10.1371/journal.pgen.1011651⟩

Article dans une revue hal-05151547v1

Dealing with differential misclassification of an outcome or a covariate in association studies with an internally validated sample selected not at random

Júlia Lacombe Ossó , Benjamin Glemain , Céline Dorival , Hélène Blanché , Cédric Lemogne et al.

BMC Medical Research Methodology, 2025, 25 (1), pp.267. ⟨10.1186/s12874-025-02698-9⟩

Article dans une revue hal-05404604v1
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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 et al.

Journal of Medical Genetics, 2024, 61 (1), pp.47-56. ⟨10.1136/jmg-2023-109263⟩

Article dans une revue hal-04191468v1
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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 et al.

European Journal of Human Genetics, 2024, 32, pp.190-199. ⟨10.1038/s41431-023-01474-x⟩

Article dans une revue hal-05290645v2
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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 et al.

Nature Communications, 2024, 15 (1), pp.6710. ⟨10.1038/s41467-024-51087-1⟩

Article dans une revue hal-04683810v2
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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 et al.

Nature Communications, 2024, 15 (1), pp.2269. ⟨10.1038/s41467-024-46354-0⟩

Article dans une revue hal-04905283v1
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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 , Raphaël Schneider , Safaa Saker et al.

Genome Medicine, 2024, 16 (1), pp.87. ⟨10.1186/s13073-024-01353-0⟩

Article dans une revue hal-04908518v1
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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 et al.

Journal of the American Heart Association, 2024, 13 (21), pp.e034943. ⟨10.1161/jaha.124.034943⟩

Article dans une revue hal-04911771v1
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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 et al.

Clinical Kidney Journal, 2024, 17 (8), pp.sfae224. ⟨10.1093/ckj/sfae224⟩

Article dans une revue hal-04660216v1
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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.

Life, 2024, 14 (2), pp.244. ⟨10.3390/life14020244⟩

Article dans une revue hal-04609850v1
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Assessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening

Gaël Nicolas , Aline Zaréa , Morgane Lacour , Olivier Quenez , Stéphane Rousseau et al.

Genetics in Medicine, 2024, 26 (5), pp.101082. ⟨10.1016/j.gim.2024.101082⟩

Article dans une revue hal-04470892v1

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.

International Journal of Radiation Oncology, Biology, Physics, 2024, ⟨10.1016/j.ijrobp.2024.09.049⟩

Article dans une revue hal-04910059v1
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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.

GeroScience, 2024, 46 (3), pp.3503-3505. ⟨10.1007/s11357-024-01085-4⟩

Article dans une revue hal-05313985v1
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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 et al.

Nature Communications, 2024, 15 (1), pp.3352. ⟨10.1038/s41467-024-47735-1⟩

Article dans une revue hal-04616627v1
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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 et al.

European Journal of Human Genetics, 2024, 32 (7), pp.779-785. ⟨10.1038/s41431-024-01580-4⟩

Article dans une revue hal-04659594v1
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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 et al.

Nature Genetics, 2023, 55 (4), pp.607-618. ⟨10.1038/s41588-023-01321-1⟩

Article dans une revue inserm-04062865v1

Heritable defects in telomere and mitotic function selectively predispose to sarcomas

Mandy Ballinger , Swetansu Pattnaik , Piyushkumar Mundra , Milita Zaheed , Emma Rath et al.

Science, 2023, 379 (6629), pp.253-260. ⟨10.1126/science.abj4784⟩

Article dans une revue hal-04188088v1
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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.

European Heart Journal - Cardiovascular Imaging, 2023, 24 (10), pp.1394-1403. ⟨10.1093/ehjci/jead146⟩

Article dans une revue hal-04192912v1
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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.

Nature Communications, 2023, 14 (1), pp.1411. ⟨10.1038/s41467-023-36997-w⟩

Article dans une revue hal-04028558v1
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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 et al.

International Journal of Molecular Sciences, 2023, 24 (10), pp.8729. ⟨10.3390/ijms24108729⟩

Article dans une revue hal-04188206v1
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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 et al.

Epigenomics, 2023, ⟨10.2217/epi-2023-0017⟩

Article dans une revue inserm-04044562v1
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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.

GeroScience, 2023, 46 (2), pp.2681 - 2695. ⟨10.1007/s11357-023-01037-4⟩

Article dans une revue inserm-04787237v1
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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 et al.

International Journal of Translational Medicine, 2022, 2 (1), pp.97 - 112. ⟨10.3390/ijtm2010009⟩

Article dans une revue hal-04577644v1
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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 et al.

Journal of the American Heart Association, 2022, 11, pp.e023301. ⟨10.1161/JAHA.121.023301⟩

Article dans une revue hal-03652891v1
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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 , Anne Moreau de Bellaing , Wei Xuan Goh et al.

Nature Genetics, 2022, 54 (1), pp.62-72. ⟨10.1038/s41588-021-00970-4⟩

Article dans une revue hal-03876795v1

Operational tolerance after hematopoietic stem cell transplantation is characterized by distinct transcriptional, phenotypic, and metabolic signatures

Laetitia Dubouchet , Helena Todorov , Ruth Seurinck , Nicolas Vallet , Sofie van Gassen et al.

Science Translational Medicine, 2022, 14 (633), ⟨10.1126/scitranslmed.abg3083⟩

Article dans une revue hal-03599282v1
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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 et al.

Metabolites, 2022, 12 (3), pp.262. ⟨10.3390/metabo12030262⟩

Article dans une revue hal-03642664v1
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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 et al.

JNCI: Journal of the National Cancer Institute, 2022, 114 (8), pp.1159-1166. ⟨10.1093/jnci/djac087⟩

Article dans une revue hal-03914530v1
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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 , Alice Moussy , Sophie Chantalat , Ravi Sudharshan et al.

PLoS Biology, 2022, 20 (10), pp.e3001849. ⟨10.1371/journal.pbio.3001849⟩

Article dans une revue hal-04025552v1
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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 , Nicolas Meunier-Beillard , Myriam Alice Borel , Léna Gourvès et al.

Frontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩

Article dans une revue hal-03678712v1
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Experimental evolution links post-transcriptional regulation to Leishmania fitness gain

Laura Piel , K. Shanmugha Rajan , Giovanni Bussotti , Hugo Varet , Rachel Legendre et al.

PLoS Pathogens, 2022, 18 (3), pp.e1010375. ⟨10.1371/journal.ppat.1010375⟩

Article dans une revue pasteur-03615912v1
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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 , Stéphanie Bonnaud et al.

Human Mutation, 2022, 43 (9), pp.1333-1342. ⟨10.1002/humu.24436⟩

Article dans une revue hal-03722211v2
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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 , Imane Moutkine , Anne Houllier et al.

Nature Communications, 2022, 13, ⟨10.1038/s41467-022-30443-z⟩

Article dans une revue hal-03872724v1
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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 , Oscar Plunde et al.

European Heart Journal Open, 2022, pp.oeac016. ⟨10.1093/ehjopen/oeac016⟩

Article dans une revue hal-03613927v1
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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.

Nature Communications, 2022, 13 (1), pp.5198. ⟨10.1038/s41467-022-32896-8⟩

Article dans une revue inserm-03845164v1
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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 et al.

Scientific Reports, 2022, 12 (1), pp.8622. ⟨10.1038/s41598-022-11787-4⟩

Article dans une revue hal-03737986v1

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 et al.

Journal of Clinical Medicine, 2021, 10 (5), pp.956. ⟨10.3390/jcm10050956⟩

Article dans une revue hal-03656015v1
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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 et al.

Blood, 2021, 137 (17), pp.2394-2402. ⟨10.1182/blood.2020008997⟩

Article dans une revue hal-03135635v1
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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 et al.

International Journal of Epidemiology, 2021, 50 (5), pp.1458-1472. ⟨10.1093/ije/dyab110⟩

Article dans une revue hal-03600604v1
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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 , Catherine Thèves et al.

Current Biology, 2021, 31 (5), pp.1072-1083.e10. ⟨10.1016/j.cub.2020.12.015⟩

Article dans une revue hal-03150872v1

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.

Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩

Article dans une revue hal-03602381v1
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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 et al.

Infection, 2021, 50 (1), pp.257-262. ⟨10.1007/s15010-021-01731-5⟩

Article dans une revue hal-03456505v1
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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 , Emilie Cordina-Duverger et al.

Cancer Epidemiology, Biomarkers and Prevention, 2021, 30 (6), pp.1208-1217. ⟨10.1158/1055-9965.EPI-20-1142⟩

Article dans une revue hal-03378112v1
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Genomic insights into population history and biological adaptation in Oceania

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Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma

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Evaluation of saliva as a source of accurate wholegenome and microbiome sequencing data

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Genetics of severe hypercholesterolemia in the general population

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Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy

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Region-specific expression of young small-scale duplications in the human central nervous system

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Gene expression and response prediction to amisulpride in the OPTiMiSE first episode psychoses

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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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PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment

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Papuan mitochondrial genomes and the settlement of Sahul

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PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort

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A meta-analysis of genome-wide association studies identifies multiple longevity genes

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Evidence of Austronesian Genetic Lineages in East Africa and South Arabia: Complex Dispersal from Madagascar and Southeast Asia

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LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

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Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures

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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

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Bayesian Network Analysis of plasma microRNA sequencing data in patients with venous thrombosis

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Both rare and common genetic variants contribute to autism in the Faroe Islands

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RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome

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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)

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Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism

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Deregulation of microRNA expression in monocytes and CD4+ T lymphocytes from patients with axial spondyloarthritis

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Systematic analysis of TruSeq, SMARTer and SMARTer Ultra-Low RNA-seq kits for standard, low and ultra-low quantity samples.

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Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations

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A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families

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Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia

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Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

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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

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Low temperature isothermal amplification of microsatellites drastically reduces stutter artifact formation and improves microsatellite instability detection in cancer

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Pathway analysis integrating genome-wide and functional data identifies PLCG2 as a candidate gene for age-related macular degeneration

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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

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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

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Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years

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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

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Clustering and variable selection evaluation of 13 unsupervised methods for multi-omics data integration

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Glucocorticoids delay RAF-induced senescence promoted by EGR1

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Genetic susceptibility to radiation-related differentiated thyroid cancers: a systematic review of literature

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Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

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Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

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A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations

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Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

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Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR

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Strong selection during the last millennium for African ancestry in the admixed population of Madagascar

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Genetics in Medicine, 2018, 20 (2), pp.269-274. ⟨10.1038/gim.2017.109⟩

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Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer’s disease

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Frontiers in Physiology, 2018, 9, pp.1329. ⟨10.3389/fphys.2018.01329⟩

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Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk

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Pulmonary endothelial cell DNA methylation signature in pulmonary arterial hypertension

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Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

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Disease Models & Mechanisms, 2017, 10 (4), pp.487-497. ⟨10.1242/dmm.027367⟩

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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

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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

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Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents

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European Journal of Human Genetics, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩

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Breast Cancer Research, 2016, 19 (1), pp.98. ⟨10.1186/s13058-017-0888-4⟩

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Genome-wide nucleosome specificity and function of chromatin remodellers in ES cells

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Nature, 2016, 530 (7588), pp.113 - 116. ⟨10.1038/nature16505⟩

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A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers

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Nature Communications, 2016, 7, pp.Article number: 12222. ⟨10.1038/ncomms12222⟩

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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

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Cohorte française Chronic Kidney Disease–Réseau Épidémiologie et Information en Néphrologie (CKD-REIN) : mieux connaître la maladie rénale chronique

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Néphrologie & Thérapeutique, 2016, 12 (supplément 1), pp.49-56. ⟨10.1016/j.nephro.2016.01.005⟩

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European Journal of Human Genetics, 2016, 24 (5), pp.710-716. ⟨10.1038/ejhg.2015.173⟩

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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 et al.

European Journal of Human Genetics, 2016, 24 (11), pp.1630--1634. ⟨10.1038/ejhg.2016.50⟩

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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

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American Journal of Human Genetics, 2016, 98 (3), pp.500-513. ⟨10.1016/j.ajhg.2016.01.014⟩

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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

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American Journal of Human Genetics, 2016, 99 (3), pp.753 - 761. ⟨10.1016/j.ajhg.2016.06.033⟩

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Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents

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Nature Communications, 2016, 7 (1), pp.10767. ⟨10.1038/ncomms10767⟩

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ABCA7 rare variants and Alzheimer disease risk

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Neurology, 2016, Equipe 4, 86 (23), pp.2134--2137. ⟨10.1212/WNL.0000000000002627⟩

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Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.

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American Journal of Human Genetics, 2015, 96 (4), pp.532-42. ⟨10.1016/j.ajhg.2015.01.019⟩

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In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin

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Molecular Therapy - Nucleic Acids, 2015, 4 (11), pp.e262. ⟨10.1038/mtna.2015.35⟩

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The French Chronic Kidney Disease-Renal Epidemiology and Information Network (CKD-REIN) cohort study

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Nephrology Dialysis Transplantation, 2014, 29 (8), pp.1500 - 1507. ⟨10.1093/ndt/gft388⟩

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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 et al.

Nature Neuroscience, 2014, 17 (7), pp.923-933. ⟨10.1038/nn.3729⟩

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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

BMC Genetics, 2006, 7, pp.20. ⟨10.1186/1471-2156-7-20⟩

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Large-scale association analysis identified novel differentiated thyroid carcinoma risk loci by integrating transcriptome and proteome

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2025

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2025

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Rare coding variants in CTSO , a potential new actor of arterial remodeling, are associated to familial intracranial aneurysm

Milène Fréneau , Raphaël Blanchet , Sandro Benichi , Mary-Adel Mrad , Surya Prakash Rao Batta et al.

2023

Pré-publication, Document de travail hal-03999154v1

Copy Number Variants and heritability estimates on UKBiobank data

Jawad Boulahfa , Morgane Pierre-Jean , Jean-François Deleuze , Claire Dandine-Roulland , Edith Le Floch

2026

Pré-publication, Document de travail hal-05507879v1

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer’s Disease

Guillaume Seret , Marc Hulsman , Camille Charbonnier , Benjamin Grenier-Boley , Olivier Quenez et al.

2022

Pré-publication, Document de travail hal-03706764v1
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Post-transcriptional regulation of Leishmania fitness gain

Laura Piel , K. Shanmugha Rajan , Giovanni Bussotti , Hugo Varet , Rachel Legendre et al.

2021

Pré-publication, Document de travail pasteur-03210825v1
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ContaTester: Fast cross-contamination estimation and identification for large human sequencing cohorts

Damien Delafoy , Jonathan Mercier , Elise Larsonneur , Nicolas Wiart , Florian Sandron et al.

2025

Pré-publication, Document de travail cea-04995344v1

Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease

Julia Viard , Yann Loe-Mie , Rachel Daudin , Malik Khelfaoui , Christine Plancon et al.

2020

Pré-publication, Document de travail hal-03065473v1

The H2A.J histone variant contributes to Interferon-Stimulated Gene expression in senescence by its weak interaction with H1 and the derepression of repeated DNA sequences

Adele Mangelinck , Clement Coudereau , Regis Courbeyrette , Khalid Ouararhni , Ali Hamiche et al.

2020

Pré-publication, Document de travail hal-04291909v1
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Building regionally anchored french population genomic panels for better insights into the genetic architecture of diseases

Anthony Herzig , Gaëlle Le Folgoc , Hélène Blanché , Gaëlle Marenne , Aude Saint Pierre et al.

ISHG 2025 - International Symposium on Human Genomics, May 2025, Paris, France.

Poster de conférence hal-05064261v1
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Impact of joint Dimension Reduction methods for survival prediction - extension of a multi-omics benchmark study

Vincent Le Goff , Vincent Guillemot , Cathy Philippe , Gwendoline Mendes , Jean‐françois Deleuze et al.

ISMB/ECCB 2025, Jul 2025, Liverpool, United Kingdom

Poster de conférence hal-05318178v1

Cost of genome analysis in patients with intellectual disabilities: a micro-costing study in a French setting

Charley Robert-Viard , Anne-Laure Soilly , Céline Besse , Anne Boland , Delphine Bacq-Daian et al.

57th European Society of Human Genetics (ESHG) Conference, Jun 2024, Berlin, Germany. SPRINGERNATURE, 2024, EUROPEAN JOURNAL OF HUMAN GENETICS

Poster de conférence hal-05035005v1
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A benchmark study of deconvolution methods and target enrichment kits to estimate the proportions of COVID 19 lineages in wastewater samples sequenced with ONT

Benjamin VACUS , Marc Délépine , Zuzana Gerber , Florian Sandron , Christian Daviaud et al.

he 31st Annual Intelligent Systems For Molecular Biology and the 22nd Annual European Conference on Computational Biology, Jul 2023, Lyon, France

Poster de conférence cea-04600532v1

KATY european consortium: supporting the AI revolution in precision oncology

Florian Jeanneret , Pauline Bazelle , Etienne Bardet , Solène Mauger , Odile Filhol et al.

JOBIM 2022, Jul 2022, Rennes (Campus de Beaulieu), France. Zenodo, 2022, ⟨10.5281/zenodo.8214325⟩

Poster de conférence hal-04778599v1

MOOC on Bioinformatics in Genomic Medicine (BiG MOOC)

Evan Gouy , Kevin Yauy , Anne‐sophie Denommé‐pichon , Emmanuelle Génin , François Lecoquierre et al.

54th European Society of Human Genetics (ESHG) Conference, Jun 2022, Vienne (Autriche), Austria. Springer Nature, Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters, 30, pp.567, 2022

Poster de conférence cea-04347197v1

POPGEN : un catalogue des variants génétiques présents dans les différentes régions françaises

Gaelle Le Folgoc , Anthony Francis Herzig , Marie Zins , Marcel Goldberg , Sacha Schutz et al.

Assises de Génétique Humaine et Médicale, Feb 2022, Rennes, France

Poster de conférence hal-05314307v1

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

Kévin Cassinari , Anne Rovelet-Lecrux , Sandrine Tury , Olivier Quenez , Anne-Claire Richard et al.

European Society of Human Genetics (ESHG). 53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Virtuel - Online, France. Springer Nature; 570-571 / P13.29.A, European Journal of Human Genetics, 28 (Suppl. 1), 2020

Poster de conférence cea-05308711v1

Méthodes de partitionnements pour détecter des structures fines de population et applications au projet POPGEN

Guivrach Mael , Gaëlle Le Folgoc , Gaëlle Marenne , Thomas Ludwing , Jean Marc Sebaoun et al.

Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France

Communication dans un congrès hal-04876621v1

Hétérogénéité des ascendances mésolithiques et steppiques dans des génomes d’individus du Néolithique et du Campaniforme du territoire français

Andaine Seguin-Orlando , Richard Donat , Clio Der Sarkissian , John Southon , Catherine Thèves et al.

Journées de la Société d'Anthropologie de Paris, Jan 2021, Paris, France. https://journals.openedition.org/bmsap/7187

Communication dans un congrès hal-03677512v1
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PIntMF : Une méthode de factorisation matricielle pénalisée pour l'intégration de données multi-omiques

Morgane Pierre-Jean , Florence Mauger , Jean-François Deleuze , Edith Le Floch

JDS 21 - 52èmes Journées de Statistique de la Société Française de Statistique (SFdS) (reportées en 2021), Jun 2021, Nice, France

Communication dans un congrès hal-02945894v1

RNA signature and prediction to treatment response in first episode schizophrenia

Réjane Troudet , W. Bel Haj Ali , C. Barau , Anne Boland-Auge , Jean-François Deleuze et al.

30th ECNP Congress, Sep 2017, Paris, France. pp.S597

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