jean-francois deleuze

197
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)
Identifiants chercheurs
Contact

Présentation


Publications

Publications

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-04954157 v1
Image document

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-04987274 v1
Image document

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, ⟨10.1161/jaha.124.034943⟩
Article dans une revue hal-04911771 v1

SURFBAT: a surrogate family based association test building on large imputation reference panels

Anthony Herzig , Simone Rubinacci , Gaëlle Marenne , Hervé Perdry , Emmanuelle Génin et al.
Article dans une revue hal-05037568 v1
Image document

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-04683810 v2
Image document

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-04905283 v1
Image document

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-04191468 v1
Image document

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-04660216 v1
Image document

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-04609850 v1

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-04910059 v1
Image document

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-04616627 v1
Image document

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-04659594 v1
Image document

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-04192912 v1

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-04188088 v1
Image document

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-04028558 v1
Image document

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-04062865 v1
Image document

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-04188206 v1
Image document

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-04044562 v1

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 hal-05036220 v1
Image document

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-04787237 v1
Image document

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-03914530 v1
Image document

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-03642664 v1
Image document

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-04025552 v1
Image document

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-03678712 v1

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-03599282 v1
Image document

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-03876795 v1
Image document

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-03652891 v1
Image document

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-04577644 v1
Image document

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-03722211 v2
Image document

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-03615912 v1
Image document

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-03872724 v1
Image document

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-03845164 v1
Image document

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-03613927 v1
Image document

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-03737986 v1
Image document

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-03378112 v1
Image document

African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations

Harilanto Razafindrazaka , Veronica Pereda-Loth , Camille Ferdenzi , Margit Heiske , Omar Alva et al.
Brain Sciences, 2021, 11 (11), pp.1405. ⟨10.3390/brainsci11111405⟩
Article dans une revue hal-03432438 v1

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 Schramm et al.
Human Genetics, 2021, ⟨10.1007/s00439-021-02383-z⟩
Article dans une revue hal-03472613 v1
Image document

Genomic insights into population history and biological adaptation in Oceania

Jeremy Choin , Javier Mendoza-Revilla , Lara R Arauna , Sebastian Cuadros-Espinoza , Olivier Cassar et al.
Nature, 2021, 592 (7855), pp.583-589. ⟨10.1038/s41586-021-03236-5⟩
Article dans une revue pasteur-03205291 v1
Image document

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-03456505 v1

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-03602381 v1
Image document

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-03135635 v1

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-03656015 v1
Image document

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-03150872 v1
Image document

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-03600604 v1

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly

Kévin Uguen , Kilannin Krysiak , Séverine Audebert-Bellanger , Sylvia Redon , Caroline Benech et al.
Clinical Genetics, 2021, 100 (4), pp.386-395. ⟨10.1111/cge.14015⟩
Article dans une revue hal-03282329 v1

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 et al.
European Heart Journal, 2021, 42 (20), pp.2000-2011. ⟨10.1093/eurheartj/ehab030⟩
Article dans une revue hal-03567179 v1
Image document

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia

Antoine Rimbert , Xavier Vanhoye , Dramane Coulibaly , Marie Marrec , Matthieu Pichelin et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021, 41 (1), pp.e63-e71. ⟨10.1161/ATVBAHA.120.315491⟩
Article dans une revue hal-03105646 v1
Image document

Molecular profiling of advanced soft-tissue sarcomas: the MULTISARC randomized trial

Antoine Italiano , Derek Dinart , Isabelle Soubeyran , Carine Bellera , Hélène Espérou et al.
BMC Cancer, 2021, 21 (1), pp.1180. ⟨10.1186/s12885-021-08878-2⟩
Article dans une revue inserm-03472913 v1
Image document

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.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Article dans une revue hal-03602359 v1
Image document

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

Clarisse Delvallée , Samuel Nicaise , Manuela Antin , Anne-Sophie Leuvrey , Elsa Nourisson et al.
Clinical Genetics, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Article dans une revue hal-03007093 v1
Image document

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 et al.
Genetic Epidemiology, 2021, 45 (5), pp.537-548. ⟨10.1002/gepi.22386⟩
Article dans une revue inserm-03526795 v1
Image document

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 , Delphine Bacq-Daian et al.
Oncotarget, 2021, 12 (5), pp.493-506. ⟨10.18632/oncotarget.27888⟩
Article dans une revue hal-03378212 v1
Image document

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

Om Kulkarni , Pierre-Emmanuel Sugier , Julie Guibon , Anne Boland-Augé , Christine Lonjou et al.
Scientific Reports, 2021, 11 (1), pp.8932. ⟨10.1038/s41598-021-88253-0⟩
Article dans une revue hal-03243030 v1
Image document

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Olivier Quenez , Kevin Cassinari , Sophie Coutant , Francois Lecoquierre , Kilan Le Guennec et al.
European Journal of Human Genetics, 2021, 29, pp.99-109. ⟨10.1038/s41431-020-0672-2⟩
Article dans une revue hal-02317979 v2
Image document

PIntMF: Penalized Integrative Matrix Factorization method for multi-omics data

Morgane Pierre-Jean , Florence Mauger , Jean-François Deleuze , Edith Le Floch
Bioinformatics, 2021, 38 (4), pp.900-907. ⟨10.1093/bioinformatics/btab786⟩
Article dans une revue hal-03154671 v1
Image document

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 , Gaëlle Pierron et al.
JNCI: Journal of the National Cancer Institute, 2021, ⟨10.1093/jnci/djab167⟩
Article dans une revue hal-03326678 v1
Image document

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 Deleuze et al.
BMC Ecology and Evolution, 2021, 21, pp.59. ⟨10.1186/s12862-021-01794-w⟩
Article dans une revue hal-03353892 v1
Image document

Papua New Guinean genomes reveal the complex settlement of north Sahul

Nicolas Brucato , Mathilde André , Roxanne Tsang , Lauri Saag , Jason Kariwiga et al.
Molecular Biology and Evolution, 2021, ⟨10.1093/molbev/msab238⟩
Article dans une revue hal-03320801 v1

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

Xavière Lornage , Martial Mallaret , Roberto Silva-Rojas , Valérie Biancalana , Diane Giovannini et al.
neurogenetics, 2021, 22 (1), pp.33-41. ⟨10.1007/s10048-020-00632-3⟩
Article dans une revue hal-03613299 v1
Image document

Genetics of severe hypercholesterolemia in the general population

Constance Xhaard , João Pedro Ferreira , Edith Le Floch , Zohra Lamiral , Claire Dandine-Roulland et al.
Journal of Atherosclerosis Prevention and Treatment, 2021, 12 (3), pp.73-83. ⟨10.53590/japt.02.1026⟩
Article dans une revue hal-03579126 v1
Image document

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 et al.
Environmental Microbiology, 2020, 22 (6), pp.1997-2000. ⟨10.1111/1462-2920.15039⟩
Article dans une revue hal-02571406 v1
Image document

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Elodie Sanchez , Béryl Laplace-Builhé , Frédéric Tran Mau-Them , Eric Richard , Alice Goldenberg et al.
Genetics in Medicine, 2020, 22 (3), pp.547-556. ⟨10.1038/s41436-019-0669-9⟩
Article dans une revue hal-02549940 v1
Image document

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

Réjane Troudet , Wafa Bel Haj Ali , Delphine Bacq-Daian , Inge Winter Van Rossum , Anne Boland-Auge et al.
Neuropsychopharmacology, 2020, 45 (10), pp.1637-1644. ⟨10.1038/s41386-020-0703-2⟩
Article dans une revue inserm-03130159 v1
Image document

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

Luca Kleineidam , Vincent Chouraki , Tomasz Próchnicki , Sven J. van Der Lee , Laura Madrid‑márquez et al.
Acta Neuropathologica, 2020, 139 (6), pp.1025-1044. ⟨10.1007/s00401-020-02138-6⟩
Article dans une revue hal-03150932 v1
Image document

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Carolina Uggenti , Alice Lepelley , Marine Depp , Andrew Badrock , Mathieu P Rodero et al.
Nature Genetics, 2020, 52 (12), pp.1364-1372. ⟨10.1038/s41588-020-00737-3⟩
Article dans une revue hal-03367600 v1
Image document

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

J. C. Bis , X. Jian , B. W. Kunkle , Y. Chen , K. L. Hamilton-Nelson et al.
Molecular Psychiatry, 2020, 25 (8), pp.1859-1875. ⟨10.1038/s41380-018-0112-7⟩
Article dans une revue hal-03177410 v1

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Martin Chevarin , Yannis Duffourd , Rebecca a Barnard , Sébastien Moutton , François Lecoquierre et al.
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Article dans une revue hal-03619568 v1
Image document

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 , Mark Bakker et al.
Journal of Psychopharmacology, 2020, 34 (5), pp.524-531. ⟨10.1177/0269881120907972⟩
Article dans une revue inserm-03130632 v1
Image document

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Thomas Husson , François Lecoquierre , Kevin Cassinari , Camille Charbonnier , Olivier Quenez et al.
Translational Psychiatry, 2020, 10 (1), pp.77. ⟨10.1038/s41398-020-0760-7⟩
Article dans une revue hal-02538173 v1
Image document

Circulating plasma proteins and new-onset diabetes in a population-based study: proteomic and genomic insights from the STANISLAS cohort

Joao Pedro Ferreira , Zohra Lamiral , Constance Xhaard , Kévin Duarte , Emmanuel Bresso et al.
European Journal of Endocrinology, 2020, 183 (3), pp.285-295. ⟨10.1530/EJE-20-0246⟩
Article dans une revue hal-02917113 v1
Image document

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Sahar Elouej , Karim Harhouri , Morgane Le Mao , Genevieve Baujat , Sheela Nampoothiri et al.
Nature Communications, 2020, 11 (4589), ⟨10.1038/s41467-020-18146-9⟩
Article dans une revue hal-02942760 v1
Image document

Papuan mitochondrial genomes and the settlement of Sahul

Nicole Pedro , Nicolas Brucato , Verónica Fernandes , Mathilde André , Lauri Saag et al.
Journal of Human Genetics, 2020, ⟨10.1038/s10038-020-0781-3⟩
Article dans une revue hal-02774590 v1
Image document

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 , Yoann Huguenin et al.
Clinical Science, 2020, 134 (10), pp.1181-1190. ⟨10.1042/CS20200403⟩
Article dans une revue inserm-03014711 v1
Image document

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 et al.
Journal of the American Heart Association, 2020, 9 (7), pp.e014758. ⟨10.1161/jaha.119.014758⟩
Article dans une revue hal-02611622 v1
Image document

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

Olivier Fogel , Andreas Bugge Tinggaard , Maud Fagny , Nelly Sigrist , Elodie Roche et al.
Arthritis Research & Therapy, 2019, 21 (1), pp.1-14. ⟨10.1186/s13075-019-1829-7⟩
Article dans une revue hal-03642295 v1

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

Nadjet Belbachir , Vincent Portero , Zeina Al Sayed , Jean-Baptiste Gourraud , Florian Dilasser et al.
European Heart Journal, 2019, ⟨10.1093/eurheartj/ehz308⟩
Article dans une revue inserm-02158572 v1
Image document

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

Xavière Lornage , Norma B Romero , Claire A. Grosgogeat , Eduardo Malfatti , Sandra Donkervoort et al.
Acta Neuropathologica, 2019, 137 (3), pp.501-519. ⟨10.1007/s00401-019-01963-8⟩
Article dans une revue hal-03676431 v1

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

Sara Lindström , Lu Wang , Erin N. Smith , William Gordon , Astrid van Hylckama Vlieg et al.
Blood, 2019, 134 (19), pp.1645-1657. ⟨10.1182/blood.2019000435⟩
Article dans une revue hal-02542549 v1
Image document

OPTIMIR, a novel algorithm for integrating available genome-wide genotype data into miRNA sequence alignment analysis

Florian Thibord , Claire Perret , Maguelonne Roux , Pierre Suchon , Marine Germain et al.
RNA, 2019, 25 (6), pp.657-668. ⟨10.1261/rna.069708.118⟩
Article dans une revue hal-02145961 v1
Image document

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 , Eric Bonnet , Céline Derbois , Solène Brohard-Julien et al.
Scientific Reports, 2019, 9, pp.1-12. ⟨10.1038/s41598-019-43983-0⟩
Article dans une revue hal-02270990 v1
Image document

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

Laura Gouder , Aline Vitrac , Hany Goubran-Botros , Anne Danckaert , Jean-Yves Tinevez et al.
Scientific Reports, 2019, 9 (1), pp.1-11. ⟨10.1038/s41598-018-36993-x⟩
Article dans une revue hal-02010139 v1
Image document

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

Ana Uzquiano , Carmen Cifuentes-Diaz , Ammar Jabali , Delfina M Romero , Anne Houllier et al.
Cell Reports, 2019, 28 (6), pp.1596-1611.e10. ⟨10.1016/j.celrep.2019.06.096⟩
Article dans une revue hal-02281812 v1

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 , Elise Schaefer , Sumaiya Iqbal , Keri Ramsey et al.
American Journal of Human Genetics, 2019
Article dans une revue hal-03023474 v1
Image document

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

Maeva Veyssière , Javier Perea , Laétitia Michou , Anne Boland , Christophe Caloustian et al.
PLoS ONE, 2019, 14 (3), pp.e0213387. ⟨10.1371/journal.pone.0213387⟩
Article dans une revue hal-02075447 v1
Image document

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

Florian Thibord , Gaëlle Munsch , Claire Perret , Pierre Suchon , Maguelonne Roux et al.
European Heart Journal Supplements, In press, Epub Ahead of print
Article dans une revue inserm-02310241 v1
Image document

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

Claire Leblond , Freddy Cliquet , Coralie Carton , Guillaume Huguet , Mathieu Alexandre et al.
npj Genomic Medicine, 2019, 4 (1), ⟨10.1038/s41525-018-0075-2⟩
Article dans une revue pasteur-02562551 v1

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease

Emmanuelle Boscher , Thomas Husson , Olivier Quenez , Annie Laquerrière , Florent Marguet et al.
Journal of Alzheimer's Disease, 2019, 68 (3), pp.1243-1255. ⟨10.3233/JAD-180940⟩
Article dans une revue hal-02539727 v1

Circadian genes and risk of prostate cancer: Findings from the EPICAP study

Méyomo Gaelle Wendeu-Foyet , Yves Akoli Koudou , Sylvie Cénée , Brigitte Tretarre , Xavier Rébillard et al.
International Journal of Cancer, 2019, 145 (7), pp.1745-1753. ⟨10.1002/ijc.32149⟩
Article dans une revue cea-02290531 v1

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 , Christelle Michiels , Marion Neuillé , Christoph Friedburg , Christel Condroyer et al.
Human Mutation, 2019, 40 (6), pp.765-787. ⟨10.1002/humu.23735⟩
Article dans une revue hal-02616948 v1
Image document

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

Marion Imbert-Bouteille , Frédéric Tran Mau Them , Julien Thevenon , Thomas Guignard , Vincent Gatinois et al.
European Journal of Medical Genetics, 2019, 62 (3), pp.161-166. ⟨10.1016/j.ejmg.2018.07.003⟩
Article dans une revue hal-01845043 v1

Risk profile, quality of life and care of patients with moderate and advanced CKD : The French CKD-REIN Cohort Study

Benedicte Stengel , Marie Metzger , Christian Combe , Denis Jacquelinet , Serge Briançon et al.
Nephrology Dialysis Transplantation, 2019, 34 (2), pp.277-286. ⟨10.1093/ndt/gfy058⟩
Article dans une revue hal-01807654 v1
Image document

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

Nicolas Brucato , Verónica Fernandes , Pradiptajati Kusuma , Viktor Černý , Connie Mulligan et al.
Genome Biology and Evolution, 2019, 11 (3), pp.748-758. ⟨10.1093/gbe/evz028⟩
Article dans une revue hal-02112685 v1
Image document

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

Joris Deelen , Daniel Evans , Dan E. Arking , Niccolò Tesi , Marianne Nygaard et al.
Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-11558-2⟩
Article dans une revue hal-02530209 v1

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

Johann Böhm , Edoardo Malfatti , Emily Oates , Kristi Jones , Guy Brochier et al.
Journal of Medical Genetics, 2019, 56 (9), pp.617-621. ⟨10.1136/jmedgenet-2018-105390⟩
Article dans une revue hal-03677839 v1
Image document

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

Camille Lemattre , Marion Imbert-Bouteille , Vincent Gatinois , Paule Benit , Elodie Sanchez et al.
European Journal of Human Genetics, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
Article dans une revue hal-02180849 v1
Image document

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 , Macarena Briones , Nicole Farfán , Valeria Silva et al.
Cell Death and Disease, 2019, 10 (6), ⟨10.1038/s41419-019-1649-3⟩
Article dans une revue hal-02862321 v1

Genetic Data, Two-Sided Markets and Dynamic Consent: United States Versus France

Henri-Corto Stoeklé , Mauro Turrini , Philipe Charlier , Jean-François Deleuze , Christian Hervé et al.
Science and Engineering Ethics, 2019, 25 (5), pp.1597-1602. ⟨10.1007/s11948-019-00085-4⟩
Article dans une revue hal-03355813 v1
Image document

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 , Robert P Igo , Jonathan L Haines et al.
Investigative Ophthalmology & Visual Science, 2019, 60 (12), pp.4041-4051. ⟨10.1167/iovs.19-27827⟩
Article dans une revue cea-04449535 v1
Image document

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 , Victor Renault et al.
Nucleic Acids Research, 2019, 47 (21), pp.e141-e141. ⟨10.1093/nar/gkz811⟩
Article dans une revue hal-02426602 v1
Image document

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

Rahel Florian , Florian Kraft , Elsa Leitão , Sabine Kaya , Stephan Klebe et al.
Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Article dans une revue pasteur-02562487 v1

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 , Pierre De Villemereuil , Edith Le Floch , Delphine Bacq-Daian et al.
European Journal of Preventive Cardiology, 2019, pp.204748731989076. ⟨10.1177/2047487319890763⟩
Article dans une revue hal-02515914 v1

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

Morgane Lacour , Olivier Quenez , Anne Rovelet-Lecrux , Bruno Salomon , Stéphane Rousseau et al.
Journal of Alzheimer's Disease, 2019, 71 (1), pp.227-243. ⟨10.3233/JAD-190193⟩
Article dans une revue hal-02332506 v1
Image document

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
Briefings in Bioinformatics, 2019, ⟨10.1093/bib/bbz138⟩
Article dans une revue cea-02393847 v1

Glucocorticoids delay RAF-induced senescence promoted by EGR1

Cyril Carvalho , Valentin L'Hôte , Régis Courbeyrette , Gueorgui Kratassiouk , Guillaume Pinna et al.
Journal of Cell Science, 2019, 132 (16), pp.jcs230748. ⟨10.1242/jcs.230748⟩
Article dans une revue hal-02330078 v1
Image document

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 , Elise Schaefer , Sumaiya Iqbal , Keri Ramsey et al.
American Journal of Human Genetics, 2019, 105 (3), pp.509-525. ⟨10.1016/j.ajhg.2019.07.010⟩
Article dans une revue hal-02271087 v1

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

Monia Zidane , Jean-Baptiste C Cazier , Sylvie Chevillard , Catherine Ory , Martin Schlumberger et al.
Endocrine-Related Cancer, 2019, 26 (10), pp.R583-R596. ⟨10.1530/ERC-19-0321⟩
Article dans une revue hal-02399482 v1

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

Lou Grangeon , David Wallon , Camille Charbonnier , Olivier Quenez , Anne-Claire Richard et al.
Brain - A Journal of Neurology , 2019, 142 (6), pp.1573-1586. ⟨10.1093/brain/awz095⟩
Article dans une revue hal-02538301 v1

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

François Lecoquierre , Antoine Bonnevalle , Alexandra Chadie , Claire Gayet , Clémentine Dumant-Forest et al.
American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩
Article dans une revue hal-02356422 v1

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

Kevin Cassinari , Olivier Quenez , Géraldine Joly-Helas , Ludivine Beaussire , Nathalie Le Meur et al.
Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
Article dans une revue hal-02339190 v1
Image document

The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor

Nicolas Brucato , Verónica Fernandes , Stéphane Mazières , Pradiptajati Kusuma , Murray Cox et al.
American Journal of Human Genetics, 2018, 102 (1), pp.58-68. ⟨10.1016/j.ajhg.2017.11.011⟩
Article dans une revue hal-02112694 v1

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient

Kilan Le Guennec , Hélène Tubeuf , Didier Hannequin , David Wallon , Olivier Quenez et al.
Journal of Alzheimer's Disease, 2018, 62 (2), pp.821-831. ⟨10.3233/JAD-170981⟩
Article dans une revue hal-02356252 v1

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Kevin Yauy , Frederic Tran Mau-Them , Marjolaine Willems , Christine Coubes , Patricia Blanchet et al.
Genetics in Medicine, 2018, 20 (2), pp.269-274. ⟨10.1038/gim.2017.109⟩
Article dans une revue hal-01634463 v1

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Rainiero Ávila-Polo , Edoardo Malfatti , Xavière Lornage , Chrystel Cheraud , Isabelle Nelson et al.
Journal of Neuropathology and Experimental Neurology, 2018, 77 (12), pp.1101-1114. ⟨10.1093/jnen/nly095⟩
Article dans une revue hal-02332968 v1
Image document

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

Thomas Husson , Jean-Baptiste Duboc , Olivier Quenez , Camille Charbonnier , Maud Rothärmel et al.
Translational Psychiatry, 2018, 8 (1), pp.268. ⟨10.1038/s41398-018-0291-7⟩
Article dans une revue hal-02540043 v1
Image document

Improved microsatellite instability detection and identification by nuclease-assisted microsatellite instability enrichment using HSP110 T17

Laura G. Baudrin , Alex Duval , Antoine Daunay , Olivier Buhard , Hung Bui et al.
Clinical Chemistry, 2018, 64 (8), pp.1252-1253. ⟨10.1373/clinchem.2018.287490⟩
Article dans une revue cea-02291366 v1
Image document

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

P. H. Jonson , J. Palmio , M. Johari , S. Penttilä , A. Evilä et al.
European Journal of Neurology, 2018, 25 (5), pp.790-794. ⟨10.1111/ene.13598⟩
Article dans une revue hal-02304997 v1
Image document

La propriété des données génétiques

Henri-Corto Stoeklé , Ninon Forster , Mauro Turrini , Philippe Charlier , Christian Hervé et al.
Médecine/Sciences, 2018, 34 (12), pp.1100-1104. ⟨10.1051/medsci/2018291⟩
Article dans une revue cea-02291346 v1
Image document

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

Denis Pierron , Margit Heiske , Harilanto Razafindrazaka , Veronica Pereda-Loth , Jazmin Sanchez et al.
Nature Communications, 2018, 9 (1), pp.932. ⟨10.1038/s41467-018-03342-5⟩
Article dans une revue hal-02112693 v2

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

Alexandre How-Kit , Antoine Daunay , Olivier Buhard , Clément Meiller , Mourad Sahbatou et al.
Human Mutation, 2018, 39 (3), pp.441-453. ⟨10.1002/humu.23379⟩
Article dans une revue cea-02291352 v1
Image document

Analysis of shared heritability in common disorders of the brain

Verneri Anttila , Brenda Sullivan , Hilary Finucane , Walter Walters , Jose Bras et al.
Science, 2018, 360 (6395), eaap8757. ⟨10.1126/science.aap8757⟩
Article dans une revue cea-01870483 v1

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

Mirna Assoum , Matthew Lines , Orly Elpeleg , Véronique Darmency , Sharon Whiting et al.
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
Article dans une revue hal-01990608 v1

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

Ivana Dabaj , Robert Carlier , David Gomez-Andres , Osório Neto , Enrico Bertini et al.
Muscle & Nerve, 2018, 58 (2), pp.224-234. ⟨10.1002/mus.26137⟩
Article dans une revue hal-03670930 v1

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 , Francesca Mattioli , Elsa Nourisson et al.
European Journal of Human Genetics, 2018, 26 (7), pp.996 - 1006. ⟨10.1038/s41431-018-0096-4⟩
Article dans une revue hal-01870355 v1

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei

Xavière Lornage , Pascal Sabouraud , Béatrice Lannes , Dominique Gaillard , Raphael Schneider et al.
Journal of Neuromuscular Diseases, 2018, 5 (2), pp.257-260. ⟨10.3233/jnd-170265⟩
Article dans une revue hal-03664348 v1

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in $Trypanosoma$ and human.

Charles Coutton , Alexandra S. Vargas , Amir Amiri-Yekta , Zine-Eddine Kherraf , Selima Fourati Ben Mustapha et al.
Nature Communications, 2018, 9, pp.686. ⟨10.1038/s41467-017-02792-7⟩
Article dans une revue hal-01724640 v1
Image document

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm

Romain Bourcier , Solena Le Scouarnec , Stéphanie Bonnaud , Matilde Karakachoff , Emmanuelle Bourcereau et al.
American Journal of Human Genetics, 2018, 102 (1), pp.133 - 141. ⟨10.1016/j.ajhg.2017.12.006⟩
Article dans une revue hal-01808225 v1
Image document

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

Kelly Ceyzériat , Lucile Ben Haim , Audrey Denizot , Dylan Pommier , Marco Matos et al.
Acta Neuropathologica Communications, 2018, 6 (1), pp.1047. ⟨10.1186/s40478-018-0606-1⟩
Article dans une revue hal-02074082 v1
Image document

Systemic AA amyloidosis caused by inflammatory hepatocellular adenoma

Julien Calderaro , Eric Letouzé , Quentin Bayard , Anais Boulai , Victor Renault et al.
New England Journal of Medicine, 2018, 379 (12), pp.1178-1180. ⟨10.1056/NEJMc1805673⟩
Article dans une revue cea-02415425 v1

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 , Stéphane Dalle et al.
Journal of Investigative Dermatology, 2018, 138 (1), pp.58-67. ⟨10.1016/j.jid.2017.07.839⟩
Article dans une revue hal-01983526 v1
Image document

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart , Xenia Latypova , Paul Rollier , Tahir Khan , Hannah Stamberger et al.
American Journal of Human Genetics, 2018, 102 (5), pp.744 - 759. ⟨10.1016/j.ajhg.2018.02.021⟩
Article dans une revue hal-01796580 v1

Genome-Wide Association Study Identifies a Novel Genetic Risk Factor for Recurrent Venous Thrombosis

Hugoline G. de Haan , Astrid van Hylckama Vlieg , Marine Germain , Trevor P. Baglin , Jean-François Deleuze et al.
Circulation-Genomic and Precision Medicine, 2018, 11 (2), pp.e001827. ⟨10.1161/CIRCGEN.117.001827⟩
Article dans une revue cea-02291349 v1
Image document

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

Virginie Haushalter , Supawich Morkmued , Corinne Stoetzel , Véronique Geoffroy , Jean Muller et al.
Frontiers in Physiology, 2018, 9, pp.1329. ⟨10.3389/fphys.2018.01329⟩
Article dans une revue hal-03671924 v1
Image document

MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data

Waqasuddin Khan , Ganapathi Varma Saripella , Thomas Ludwig , Tania Cuppens , Florian Thibord et al.
Article dans une revue hal-01835282 v1

Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state

Guillaume Velasco , Giacomo Grillo , Nizar Touleimat , Laure Ferry , Ivana Ivkovic et al.
Human Molecular Genetics, 2018, 27 (14), pp.2409 - 2424. ⟨10.1093/hmg/ddy130⟩
Article dans une revue cea-01833124 v1
Image document

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Véronique Geoffroy , Corinne Stoetzel , Sophie Scheidecker , Elise Schaefer , Isabelle Perrault et al.
Human Mutation, 2018, 39 (7), pp.983-992. ⟨10.1002/humu.23539⟩
Article dans une revue hal-02371583 v1
Image document

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

Paul Saultier , Lea Vidal , Matthias Canault , Denis Bernot , Celine Falaise et al.
Haematologica, 2017, 102 (6), pp.1006 - 1016. ⟨10.3324/haematol.2016.153577⟩
Article dans une revue hal-01600750 v1

Homozygous truncating variants in TBC1D23 cause pontocerebellar hypoplasia and alter cortical development

Ekaterina Ivanova , F Mau-Them , Saima Riazuddin , Kimia Kahrizi , Vincent Laugel et al.
American Journal of Human Genetics, 2017, 101 (3), pp.428-440. ⟨10.1016/j.ajhg.2017.07.010⟩
Article dans une revue hal-03677799 v1
Image document

Association of impaired renal function with venous thrombosis: A genetic risk score approach

Romain Charmet , Astrid van Hylckama Vlieg , Marine Germain , Ronan Roussel , Michel Marre et al.
Thrombosis Research, 2017, 158, pp.102 - 107. ⟨10.1016/j.thromres.2017.08.015⟩
Article dans une revue hal-01581823 v1
Image document

Genome-Wide Methylation Analysis Identifies Specific Epigenetic Marks In Severely Obese Children

Delphine Fradin , Pierre-Yves Boëlle , Marie-Pierre Belot , Fanny Lachaux , Jorg Tost et al.
Scientific Reports, 2017, 7, pp.46311. ⟨10.1038/srep46311⟩
Article dans une revue hal-01516806 v1

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 et al.
Canadian Journal of Neurological Sciences, 2017, 44 (1), pp.125-127. ⟨10.1017/cjn.2016.322⟩
Article dans une revue hal-03679178 v1

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

K. Le Guennec , O. Quenez , G. Nicolas , D. Wallon , S. Rousseau et al.
Molecular Psychiatry, 2017, Equipe I, 22 (8), pp.1119--1125. ⟨10.1038/mp.2016.226⟩
Article dans une revue hal-01832142 v1

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

Paul Saultier , Léa Vidal , Matthias Canault , Denis Bernot , Céline Falaise et al.
Haematologica, 2017, 102 (6), pp.1006 - 1016. ⟨10.3324/haematol.2016.153577⟩
Article dans une revue hal-03905359 v1

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 , Sandra Donkervoort , Johann Bohm et al.
Neuromuscular Disorders, 2017, 27 (11), pp.975-985. ⟨10.1016/j.nmd.2017.05.016⟩
Article dans une revue hal-01741730 v1
Image document

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Mathieu Cerino , Svetlana Gorokhova , Pascal Laforet , Rabah Ben Yaou , Emmanuelle Salort-Campana et al.
Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩
Article dans une revue hal-01741741 v1
Image document

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 , Thomas Guignard , Vasily Smirnov , Sylvie Berthemy et al.
Human Molecular Genetics, 2017, 26 (22), pp.4367--4374. ⟨10.1093/hmg/ddx322⟩
Article dans une revue hal-01743907 v1
Image document

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 , Olivier Quenez , Kilan Le Guennec et al.
Neurobiology of Aging, 2017, 59, pp.220.e1-220.e9. ⟨10.1016/j.neurobiolaging.2017.07.001⟩
Article dans une revue hal-01760388 v1
Image document

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel , Brunella Franco , Yannis Duffourd , Julien Thévenon , Laurence Jego et al.
Journal of Medical Genetics, 2017, 54 (6), pp.371 - 380. ⟨10.1136/jmedgenet-2016-104436⟩
Article dans une revue hal-01789377 v1
Image document

Genomic landscape of human diversity across Madagascar

Denis Pierron , Margit Heiske , Harilanto Razafindrazaka , Ignace Rakoto , Nelly Rabetokotany et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (32), pp.E6498-E6506. ⟨10.1073/pnas.1704906114⟩
Article dans une revue hal-02112696 v1

Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A

S. Mercier , X. Lornage , E. Malfatti , P. Marcorelles , F. Letournel et al.
Neurology, 2017, 88, pp.414--416. ⟨10.1212/WNL.0000000000003535⟩
Article dans une revue hal-01721408 v1
Image document

Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk

P. Suchon , Marie Germain , A. Delluc , D. Smadja , X. Jouven et al.
Scientific Reports, 2017, 7, pp.45507. ⟨10.1038/srep45507⟩
Article dans une revue hal-01517355 v1

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

V. Biancalana , S. Scheidecker , M. Miguet , A. Laquerrière , N.B. Romero et al.
Acta Neuropathologica, 2017, 134 (6), pp.889--904. ⟨10.1007/s00401-017-1748-0⟩
Article dans une revue hal-01721411 v1
Image document

Pulmonary endothelial cell DNA methylation signature in pulmonary arterial hypertension

Aurélie Hautefort , Julie Chesné , Jens Preussner , Soni Pullamsetti , Jörg Tost et al.
Oncotarget, 2017, 8 (32), pp.52995-53016. ⟨10.18632/oncotarget.18031⟩
Article dans une revue hal-01832105 v1

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Ange-Line Bruel , Stefania Bigoni , Joanna Kennedy , Margo Whiteford , Chris Buxton et al.
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Article dans une revue hal-01625676 v1
Image document

Genome-Wide Methylation Analysis Identifies Specific Epigenetic Marks In Severely Obese Children

Delphine Fradin , Pierre-Yves Boëlle , Marie-Pierre Belot , Fanny Lachaux , Jörg Tost et al.
Scientific Reports, 2017, 7 (1), pp.46311. ⟨10.1038/srep46311⟩
Article dans une revue inserm-02320512 v1
Image document

Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression

Kévin Contrepois , Clément Coudereau , Bérénice Benayoun , Nadine Schüler , Oliver Bischof et al.
Nature Communications, 2017, 8, pp.14995. ⟨10.1038/ncomms14995⟩
Article dans une revue cea-02143246 v1
Image document

Bdf1 Bromodomains Are Essential for Meiosis and the Expression of Meiotic-Specific Genes

Encar García-Oliver , Claire Ramus , Jonathan Perot , Marie Arlotto , Morgane Champleboux et al.
PLoS Genetics, 2017, 13 (1), pp.e1006541. ⟨10.1371/journal.pgen.1006541⟩
Article dans une revue hal-02083619 v1

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner , Norma Romero , Sandra Donkervoort , Susan Treves , Pinki Munot et al.
Acta Neuropathologica, 2017, 133 (4), pp.517-533. ⟨10.1007/s00401-016-1656-8⟩
Article dans une revue hal-03676425 v1
Image document

Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

Ludovic Arandel , Micaela Polay Espinoza , Magdalena Matloka , Audrey Bazinet , Damily de Dea Diniz et al.
Disease Models & Mechanisms, 2017, 10 (4), pp.487-497. ⟨10.1242/dmm.027367⟩
Article dans une revue hal-01519721 v1
Image document

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 , Nandini Badarinarayan et al.
Nature Genetics, 2017, 49 (9), pp.1373-1384. ⟨10.1038/ng.3916⟩
Article dans une revue inserm-02466466 v1
Image document

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 , Ludivine Beaussire , Frédéric Di Fiore et al.
Clinica Chimica Acta, 2017, 465, pp.1-4. ⟨10.1016/j.cca.2016.12.004⟩
Article dans une revue hal-02353197 v1

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Ange-Line Bruel , Alice Masurel-Paulet , Jean-Baptiste Rivière , Yannis Duffourd , Frédéric Huet et al.
Clinical Genetics, 2016, ⟨10.1111/cge.12794⟩
Article dans une revue hal-01405113 v1
Image document

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 et al.
Nature Genetics, 2016, 48 (11), pp.1349-1358. ⟨10.1038/ng.3676⟩
Article dans une revue hal-02371039 v1
Image document

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 et al.
Breast Cancer Research, 2016, 19 (1), pp.98. ⟨10.1186/s13058-017-0888-4⟩
Article dans une revue inserm-01577637 v1
Image document

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

Maud de Dieuleveult , Kuangyu Yen , Isabelle Hmitou , Arnaud Depaux , Fayçal Boussouar et al.
Nature, 2016, 530 (7588), pp.113 - 116. ⟨10.1038/nature16505⟩
Article dans une revue hal-01412602 v1

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Julia Lauer Zillhardt , Karine Poirier , Loic Broix , Nicolas Lebrun , Adrienne Elmorjani et al.
European Journal of Human Genetics, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩
Article dans une revue hal-01313739 v1

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 , Myriam Sanjuan-Vazquez et al.
American Journal of Human Genetics, 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩
Article dans une revue hal-02371579 v1
Image document

Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations

Hélène Quach , Maxime Rotival , Julien Pothlichet , Yong-Hwee eddie Loh , Michael Dannemann et al.
Cell, 2016, 167 (3), pp.643 - 656.e17. ⟨10.1016/j.cell.2016.09.024⟩
Article dans une revue pasteur-01385620 v1
Image document

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

Jane Merlevede , Nathalie Droin , Tingting Qin , Kristen Meldi , Kenichi Yoshida et al.
Nature Communications, 2016, 7 (1), ⟨10.1038/ncomms10767⟩
Article dans une revue hal-03130526 v1
Image document

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

Anthony Ferrari , Anne Vincent-Salomon , Xavier Pivot , Anne-Sophie Sertier , Emile Thomas et al.
Nature Communications, 2016, 7, pp.Article number: 12222. ⟨10.1038/ncomms12222⟩
Article dans une revue hal-01388446 v1
Image document

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 et al.
Article dans une revue hal-01391480 v1
Image document

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⟩
Article dans une revue hal-01397791 v1

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.
European Journal of Human Genetics, 2016, 24 (5), pp.710-716. ⟨10.1038/ejhg.2015.173⟩
Article dans une revue hal-01431285 v1

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 et al.
Néphrologie & Thérapeutique, 2016, 12 (supplément 1), pp.49-56. ⟨10.1016/j.nephro.2016.01.005⟩
Article dans une revue hal-01797448 v1
Image document

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 et al.
American Journal of Human Genetics, 2016, 98 (3), pp.500-513. ⟨10.1016/j.ajhg.2016.01.014⟩
Article dans une revue hal-01289266 v1

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 et al.
American Journal of Human Genetics, 2016, 99 (3), pp.753 - 761. ⟨10.1016/j.ajhg.2016.06.033⟩
Article dans une revue hal-01680226 v1

ABCA7 rare variants and Alzheimer disease risk

Kilan Le Guennec , Gaël Nicolas , Olivier Quenez , Camille Charbonnier , David Wallon et al.
Neurology, 2016, Equipe 4, 86 (23), pp.2134--2137. ⟨10.1212/WNL.0000000000002627⟩
Article dans une revue hal-01831744 v1

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 et al.
American Journal of Human Genetics, 2015, 96 (4), pp.532-42. ⟨10.1016/j.ajhg.2015.01.019⟩
Article dans une revue hal-01259946 v1
Image document

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

Delphine Laustriat , Jacqueline Gide , Laetitia Barrault , Emilie Chautard , Clara Benoit et al.
Molecular Therapy - Nucleic Acids, 2015, 4 (11), pp.e262. ⟨10.1038/mtna.2015.35⟩
Article dans une revue hal-01277500 v1
Image document

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.
Nephrology Dialysis Transplantation, 2014, 29 (8), pp.1500 - 1507. ⟨10.1093/ndt/gft388⟩
Article dans une revue hal-00932387 v1
Image document

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⟩
Article dans une revue hal-01514452 v1
Image document

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⟩
Article dans une revue inserm-00080416 v1

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-05035005 v1
Image document

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-04600532 v1

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-04347197 v1

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-04778599 v1

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-04876621 v1

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-03677512 v1
Image document

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-02945894 v1

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
Communication dans un congrès cea-04516224 v1
Image document

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-03999154 v1
Image document

Excessive self-grooming of $Shank3$ mutant mice is associated with gene dysregulation and imbalance between the striosome and matrix compartments in the striatum

Allain-Thibeault Ferhat , Anne Biton , Elisabeth Verpy , Benoit Forget , Fabrice de Chaumont et al.
2022
Pré-publication, Document de travail hal-03803866 v1

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-03706764 v1
Image document

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-03210825 v1
Image document

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-04995344 v1

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-03065473 v1

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-04291909 v1