jean-francois deleuze

Identifiants chercheurs

IdHAL :

jean-francois-deleuze

ORCID :

0000-0002-5358-4463

Publications

Article dans une revue (212)

The 12 o’clock assay: an optimized dodecaplex droplet digital PCR assay for robust DNA methylation quantification and epigenetic clock-based age-predictions Ilef Hchaichi,Imène Garali,Alina-Madalina Popa,Antoine Daunay,Nicolas P Tessieret al. Clinical Epigenetics, 2026, ⟨10.1186/s13148-026-02105-0⟩ Article dans une revue hal-05574638v1
Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm Milène Fréneau,Raphaël Blanchet,Maxence Bodet,Sandro Benichi,Mary-Adel Mradet al. Cardiovascular Research, 2026, 2026, pp.cvaf279 Article dans une revue hal-05477295v1
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 Juliaet al. Blood Cancer Journal, 2026, Online ahead of print. ⟨10.1038/s41408-025-01435-1⟩ Article dans une revue hal-05477261v1
Survival implications of BMI in nonagenarians and centenarians of the CEPH Aging cohort Nasreddine Rajoua,Sandra Wagner,Zohra Lamiral,Mourad Sahbatou,Jean-François Deleuzeet al. Experimental Gerontology, 2026, 218, pp.113110. ⟨10.1016/j.exger.2026.113110⟩ Article dans une revue hal-05576159v1
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 Olasoet al. Pediatric Blood and Cancer, 2026, Online ahead of print. ⟨10.1002/1545-5017.70027⟩ Article dans une revue hal-05454050v1
Genome wide association study of vaginal microbiota genetic diversity in French women Samuel Alizon,Claire Bernat,Vanina Boué,Sophie Grasset,Soraya Grocet al. Open Research Europe, 2026, 5, pp.186. ⟨10.12688/openreseurope.20462.2⟩ Article dans une revue hal-05566569v1
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome Emilie Montellier,Olivier Manches,Jonathan Gaucher,Claire Freycon,David Hoyoset al. EBioMedicine, 2026, 123, pp.106065. ⟨10.1016/j.ebiom.2025.106065⟩ Article dans une revue hal-05430020v1
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 Ansmantet al. Water Research, 2026, 289 (Part B), pp.125002. ⟨10.1016/j.watres.2025.125002⟩ Article dans une revue hal-05382421v1
An ancient DNA perspective on the Russian conquest of Yakutia Éric Crubézy,Perle Guarino-Vignon,Andaine Seguin-Orlando,Clio Der Sarkissian,Kristian Hanghøjet al. Nature, 2026, 650, pp.389-398. ⟨10.1038/s41586-025-09856-5⟩ Article dans une revue hal-05465734v1
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 Ngahoet 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 Daviaudet al. GeroScience, 2025, ⟨10.1007/s11357-025-01981-3⟩ Article dans une revue hal-05406576v1
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 Lemogneet al. BMC Medical Research Methodology, 2025, 25 (1), pp.267. ⟨10.1186/s12874-025-02698-9⟩ Article dans une revue hal-05404604v1
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 Fourneauxet al. PLoS Genetics, 2025, 21 (3), pp.e1011651. ⟨10.1371/journal.pgen.1011651⟩ Article dans une revue hal-05151547v1
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-Kellyet al. International Journal of Molecular Sciences, 2025, 26 (8), pp.3825. ⟨10.3390/ijms26083825⟩ Article dans une revue hal-05160008v1
Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations Aude Nicolas,Richard Sherva,Benjamin Grenier-Boley,Yoontae Kim,Masataka Kikuchiet al. Nature Genetics, 2025, 57 (7), pp.1598-1610. ⟨10.1038/s41588-025-02227-w⟩ Article dans une revue hal-05313678v1
Leveraging knowledge for explainable AI in personalized cancer treatment: challenges and future directions Emilia Daghir-Wojtkowiak,Javier Alfaro,Michele Mastromattei,Aleksander Palkowski,Mark Stareset 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 Ghislainet al. Journal of Antimicrobial Chemotherapy, 2025, ⟨10.1093/jac/dkae475⟩ Article dans une revue hal-04954157v1
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 Delépineet al. Nucleic Acids Research, 2025, 53 (5), ⟨10.1093/nar/gkaf131⟩ Article dans une revue hal-05159888v1
Characterization of challenging forensic DNA traces using advanced molecular technologies Amel Larnane,Caroline Lefèvre-Horgues,Corinne Cruaud,Cédric Fund,Edith Le Flochet al. International Journal of Legal Medicine, 2025, 139 (4), pp.1511-1527. ⟨10.1007/s00414-025-03448-8⟩ Article dans une revue hal-05159911v1
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 Margotet al. Genome Medicine, 2025, 17 (1), pp.110. ⟨10.1186/s13073-025-01527-4⟩ Article dans une revue hal-05299261v1
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 Barauet al. Translational Psychiatry, 2025, 15, pp.369. ⟨10.1038/s41398-025-03561-7⟩ Article dans une revue hal-05406311v1
Hair follicle stem cell fate supports distinct clinical endotypes in hidradenitis suppurativa Audrey Onfroy,Francette Jean-Louis,Philippe Le Corvoisier,Fanny Coulpier,Kevin Muretet al. Journal of the European Academy of Dermatology and Venereology, 2025, ⟨10.1111/jdv.70152⟩ Article dans une revue hal-05134707v2
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 Daviaudet al. Aging Cell, 2025, ⟨10.1111/acel.70133⟩ Article dans une revue hal-05159922v1
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 Rondeauet al. Molecular Cytogenetics, 2025, ⟨10.1186/s13039-025-00740-5⟩ Article dans une revue hal-05408693v1
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-Hernandezet al. BMC Genomics, 2025, 26 (1), pp.698. ⟨10.1186/s12864-025-11792-7⟩ Article dans une revue hal-05216377v1
Alcohol consumption and DNA methylation: an epigenome-wide association study within the French E3N cohort Dzevka Dragic,Fanny Artaud,Mojgan Karimi,Thérèse Truong,Laura Bagliettoet al. Clinical Epigenetics, 2025, 17 (1), pp.118. ⟨10.1186/s13148-025-01893-1⟩ Article dans une revue hal-05159990v1
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. Jensenet al. Molecular Neurodegeneration, 2025, 20 (1), pp.122. ⟨10.1186/s13024-025-00907-z⟩ Article dans une revue hal-05406809v1
Molecular determinants of thrombosis recurrence risk across venous thromboembolism subtypes Gaëlle Munsch,Florian Thibord,Ohanna Bezerra,Jennifer Brody,Astrid van Hylckama Vlieget al. Blood, 2025, 146 (19), pp.2357-2369. ⟨10.1182/blood.2024027879⟩ Article dans une revue hal-05406993v1
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 Cluzelet al. MethodsX, 2025, 14, pp.103323. ⟨10.1016/j.mex.2025.103323⟩ Article dans une revue hal-05075846v1
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 Flochet al. The Breast, 2025, 84, pp.104580. ⟨10.1016/j.breast.2025.104580⟩ Article dans une revue hal-05289834v1
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 Ouzounovaet al. Nature Communications, 2025, 16 (1), pp.2197. ⟨10.1038/s41467-025-57305-8⟩ Article dans une revue hal-04987274v1
Upstream open reading frame-introducing variants in patients with primary familial brain calcification Anne Rovelet-Lecrux,Antoine Bonnevalle,Olivier Quenez,Wandrille Delcroix,Kévin Cassinariet al. European Journal of Human Genetics, 2024, 32 (7), pp.779-785. ⟨10.1038/s41431-024-01580-4⟩ Article dans une revue hal-04659594v1
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 Colinet al. Journal of Medical Genetics, 2024, 61 (1), pp.47-56. ⟨10.1136/jmg-2023-109263⟩ Article dans une revue hal-04191468v1
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 Afenjaret al. European Journal of Human Genetics, 2024, 32, pp.190-199. ⟨10.1038/s41431-023-01474-x⟩ Article dans une revue hal-05290645v2
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 Bolandet al. Journal of the American Heart Association, 2024, 13 (21), pp.e034943. ⟨10.1161/jaha.124.034943⟩ Article dans une revue hal-04911771v1
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 Seabraet al. Nature Communications, 2024, 15 (1), pp.2269. ⟨10.1038/s41467-024-46354-0⟩ Article dans une revue hal-04905283v1
Human genetic structure in Northwest France provides new insights into West European historical demography Isabel Alves,Joanna Giemza,Michael Blum,Carolina Bernhardsson,Stéphanie Chatelet al. Nature Communications, 2024, 15 (1), pp.6710. ⟨10.1038/s41467-024-51087-1⟩ Article dans une revue hal-04683810v2
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 Sakeret al. Genome Medicine, 2024, 16 (1), pp.87. ⟨10.1186/s13073-024-01353-0⟩ Article dans une revue hal-04908518v1
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 Thuillieret al. Clinical Kidney Journal, 2024, 17 (8), pp.sfae224. ⟨10.1093/ckj/sfae224⟩ Article dans une revue hal-04660216v1
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 Yalcinet al. Life, 2024, 14 (2), pp.244. ⟨10.3390/life14020244⟩ Article dans une revue hal-04609850v1
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 Rousseauet 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 Montanariet al. International Journal of Radiation Oncology, Biology, Physics, 2024, ⟨10.1016/j.ijrobp.2024.09.049⟩ Article dans une revue hal-04910059v1
Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels Mathilde André,Nicolas Brucato,Georgi Hudjasov,Vasili Pankratov,Danat Yermakovichet al. Nature Communications, 2024, 15 (1), pp.3352. ⟨10.1038/s41467-024-47735-1⟩ Article dans une revue hal-04616627v1
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 Schiavonet al. GeroScience, 2024, 46 (3), pp.3503-3505. ⟨10.1007/s11357-024-01085-4⟩ Article dans une revue hal-05313985v1
Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease William Young,Jeffrey Haessler,Jan-Walter Benjamins,Linda Repetto,Jie Yaoet al. Nature Communications, 2023, 14 (1), pp.1411. ⟨10.1038/s41467-023-36997-w⟩ Article dans une revue hal-04028558v1
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-Perezet al. Nature Genetics, 2023, 55 (4), pp.607-618. ⟨10.1038/s41588-023-01321-1⟩ Article dans une revue inserm-04062865v1
Layer myocardial strain is the most heritable echocardiographic trait Olivier Huttin,Constance Xhaard,Claire Dandine-Roulland,Edith Le Floch,Delphine Bacq-Daianet al. European Heart Journal - Cardiovascular Imaging, 2023, 24 (10), pp.1394-1403. ⟨10.1093/ehjci/jead146⟩ Article dans une revue hal-04192912v1
Heritable defects in telomere and mitotic function selectively predispose to sarcomas Mandy Ballinger,Swetansu Pattnaik,Piyushkumar Mundra,Milita Zaheed,Emma Rathet al. Science, 2023, 379 (6629), pp.253-260. ⟨10.1126/science.abj4784⟩ Article dans une revue hal-04188088v1
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 Lamoucheet al. International Journal of Molecular Sciences, 2023, 24 (10), pp.8729. ⟨10.3390/ijms24108729⟩ Article dans une revue hal-04188206v1
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-Augeet al. Epigenomics, 2023, ⟨10.2217/epi-2023-0017⟩ Article dans une revue inserm-04044562v1
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 Schiavonet al. GeroScience, 2023, 46 (2), pp.2681 - 2695. ⟨10.1007/s11357-023-01037-4⟩ Article dans une revue inserm-04787237v1
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 Blanchéet al. Scientific Reports, 2022, 12 (1), pp.8622. ⟨10.1038/s41598-022-11787-4⟩ Article dans une revue hal-03737986v1
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 Maugeret al. International Journal of Translational Medicine, 2022, 2 (1), pp.97 - 112. ⟨10.3390/ijtm2010009⟩ Article dans une revue hal-04577644v1
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 Girerdet al. Journal of the American Heart Association, 2022, 11, pp.e023301. ⟨10.1161/JAHA.121.023301⟩ Article dans une revue hal-03652891v1
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 Sudharshanet al. PLoS Biology, 2022, 20 (10), pp.e3001849. ⟨10.1371/journal.pbio.3001849⟩ Article dans une revue hal-04025552v1
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 Gourvèset al. Frontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩ Article dans une revue hal-03678712v1
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 Gassenet al. Science Translational Medicine, 2022, 14 (633), ⟨10.1126/scitranslmed.abg3083⟩ Article dans une revue hal-03599282v1
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 Gohet al. Nature Genetics, 2022, 54 (1), pp.62-72. ⟨10.1038/s41588-021-00970-4⟩ Article dans une revue hal-03876795v1
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 Gaborieauet al. JNCI: Journal of the National Cancer Institute, 2022, 114 (8), pp.1159-1166. ⟨10.1093/jnci/djac087⟩ Article dans une revue hal-03914530v1
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia Youmna Ghaleb,Sandy Elbitar,Anne Philippi,Petra El Khoury,Yara Azaret al. Metabolites, 2022, 12 (3), pp.262. ⟨10.3390/metabo12030262⟩ Article dans une revue hal-03642664v1
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 Houllieret al. Nature Communications, 2022, 13, ⟨10.1038/s41467-022-30443-z⟩ Article dans une revue hal-03872724v1
Experimental evolution links post-transcriptional regulation to Leishmania fitness gain Laura Piel,K. Shanmugha Rajan,Giovanni Bussotti,Hugo Varet,Rachel Legendreet al. PLoS Pathogens, 2022, 18 (3), pp.e1010375. ⟨10.1371/journal.ppat.1010375⟩ Article dans une revue pasteur-03615912v1
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 Bonnaudet al. Human Mutation, 2022, 43 (9), pp.1333-1342. ⟨10.1002/humu.24436⟩ Article dans une revue hal-03722211v2
Identification of risk loci for primary aldosteronism in genome-wide association studies Edith Le Floch,Teresa Cosentino,Casper K Larsen,Felix Beuschlein,Martin Reinckeet al. Nature Communications, 2022, 13 (1), pp.5198. ⟨10.1038/s41467-022-32896-8⟩ Article dans une revue inserm-03845164v1
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 Plundeet al. European Heart Journal Open, 2022, pp.oeac016. ⟨10.1093/ehjopen/oeac016⟩ Article dans une revue hal-03613927v1
Region-specific expression of young small-scale duplications in the human central nervous system Solène Brohard-Julien,Vincent Frouin,Vincent Meyer,Smahane Chalabi,Jean-François Deleuzeet al. BMC Ecology and Evolution, 2021, 21, pp.59. ⟨10.1186/s12862-021-01794-w⟩ Article dans une revue hal-03353892v1
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy Xavière Lornage,Martial Mallaret,Roberto Silva-Rojas,Valérie Biancalana,Diane Giovanniniet al. neurogenetics, 2021, 22 (1), pp.33-41. ⟨10.1007/s10048-020-00632-3⟩ Article dans une revue hal-03613299v1
Genetics of severe hypercholesterolemia in the general population Constance Xhaard,João Pedro Ferreira,Edith Le Floch,Zohra Lamiral,Claire Dandine-Roullandet al. Journal of Atherosclerosis Prevention and Treatment, 2021, 12 (3), pp.73-83. ⟨10.53590/japt.02.1026⟩ Article dans une revue hal-03579126v1
Papua New Guinean genomes reveal the complex settlement of north Sahul Nicolas Brucato,Mathilde André,Roxanne Tsang,Lauri Saag,Jason Kariwigaet al. Molecular Biology and Evolution, 2021, ⟨10.1093/molbev/msab238⟩ Article dans une revue hal-03320801v1
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 Brownet al. Blood, 2021, 137 (17), pp.2394-2402. ⟨10.1182/blood.2020008997⟩ Article dans une revue hal-03135635v1
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 Lapiduset al. International Journal of Epidemiology, 2021, 50 (5), pp.1458-1472. ⟨10.1093/ije/dyab110⟩ Article dans une revue hal-03600604v1
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 Thèveset al. Current Biology, 2021, 31 (5), pp.1072-1083.e10. ⟨10.1016/j.cub.2020.12.015⟩ Article dans une revue hal-03150872v1
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-Zagroseket al. Journal of Clinical Medicine, 2021, 10 (5), pp.956. ⟨10.3390/jcm10050956⟩ Article dans une revue hal-03656015v1
Genomic insights into population history and biological adaptation in Oceania Jeremy Choin,Javier Mendoza-Revilla,Lara R Arauna,Sebastian Cuadros-Espinoza,Olivier Cassaret al. Nature, 2021, 592 (7855), pp.583-589. ⟨10.1038/s41586-021-03236-5⟩ Article dans une revue pasteur-03205291v1
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,Catherine Schrammet al. Human Genetics, 2021, ⟨10.1007/s00439-021-02383-z⟩ Article dans une revue hal-03472613v1
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 Rahibet al. Infection, 2021, 50 (1), pp.257-262. ⟨10.1007/s15010-021-01731-5⟩ Article dans une revue hal-03456505v1
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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 Drouotet al. Nature Genetics, 2016, 48 (11), pp.1349-1358. ⟨10.1038/ng.3676⟩ Article dans une revue hal-02371039v1
A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers Anthony Ferrari,Anne Vincent-Salomon,Xavier Pivot,Anne-Sophie Sertier,Emile Thomaset al. Nature Communications, 2016, 7, pp.Article number: 12222. ⟨10.1038/ncomms12222⟩ Article dans une revue hal-01388446v1
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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. Richardet al. European Journal of Human Genetics, 2016, 24 (11), pp.1630--1634. ⟨10.1038/ejhg.2016.50⟩ Article dans une revue hal-01397791v1
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MOOC on Bioinformatics in Genomic Medicine (BiG MOOC) Evan Gouy,Kevin Yauy,Anne‐sophie Denommé‐pichon,Emmanuelle Génin,François Lecoquierreet 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
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Post-transcriptional regulation of Leishmania fitness gain Laura Piel,K. Shanmugha Rajan,Giovanni Bussotti,Hugo Varet,Rachel Legendreet al. 2021 Pré-publication, Document de travail pasteur-03210825v1
ContaTester: Fast cross-contamination estimation and identification for large human sequencing cohorts Damien Delafoy,Jonathan Mercier,Elise Larsonneur,Nicolas Wiart,Florian Sandronet 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 Planconet 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 Hamicheet al. 2020 Pré-publication, Document de travail hal-04291909v1

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DEFIDIAG-DS: Reasons for accessing secondary findings and the consequences of reporting them in 2500 French patients Eléonore Viora-Dupont,Nicolas Meunier-Beillard,Marion Bouctot,Marie-Laure Asensio,Anne-Sophie Briffaultet al. 58th Conference of the European-Society-of-Human-Genetics (ESHG), May 2025, Milan, Italy Communication dans un congrès hal-05563669v1
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 Sebaounet al. Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France Communication dans un congrès hal-04876621v1
Intérêt des prélèvements salivaires pour le génotypage/séquençage à grande échelle dans de larges cohortes : expérience du CEPH/CNRGH Hélène Blanché,Jean-Christophe Beaudoin,Laeticia Gressin,Valérie Morel,Jean Marc Sebaounet al. Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France Communication dans un congrès hal-04876519v1
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 Thèveset 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
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 Deleuzeet al. 30th ECNP Congress, Sep 2017, Paris, France. pp.S597 Communication dans un congrès cea-04516224v1

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Locus-specific DNA methylation analysis and applications to plants Alexandre How-Kit,Emeline Teyssier,Jean-François Deleuze,Philippe Gallusci Plant Epigenetics, Springer International Publishing AG, Cham(CHE), pp.303-327, In press, RNA Technologies, 978-3-319-55519-5 978-3-319-55520-1 (ebook). ⟨10.1007/978-3-319-55520-1_16⟩ Chapitre d'ouvrage hal-02528179v1