Claire Bardel

Publications

Article dans une revue (67)

ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format Lucas Gauthier,Marjolaine Willems,Nicolas Chatron,Camille Cenni,Pierre Meyeret al. NAR Genomics and Bioinformatics, 2025, 7 (4), ⟨10.1093/nargab/lqaf145⟩ Article dans une revue hal-05355901v1
Pharmacological effects of osimertinib on a chicken chorioallantoic membrane xenograft model with the EGFR exon‐19‐deleted advanced NSCLC mutation David Barthélémy,Arnaud Vigneron,Xavier Rousset,Jérome Guitton,Emmanuel Grolleauet al. FEBS Open Bio, 2025, ⟨10.1002/2211-5463.13970⟩ Article dans une revue hal-05014287v1
Transposable element expression is associated with sex chromosome number in humans Jordan Teoli,Miriam Merenciano,Marie Fablet,Anamaria Necsulea,Daniel Siqueira-De-Oliveiraet al. PLoS Genetics, 2025, 21 (6), pp.e1011668. ⟨10.1371/journal.pgen.1011668⟩ Article dans une revue hal-05183750v1
KILDA: identifying KIV-2 repeats from kmers Corentin Molitor,Timothy Labidi,Antoine Rimbert,Bertrand Cariou,Mathilde Di Filippoet al. NAR Genomics and Bioinformatics, 2025, 7 (2), pp.lqaf070. ⟨10.1093/nargab/lqaf070⟩ Article dans une revue hal-05361347v1
Resolving structural variations missed by short-read sequencing uncovers their pathogenicity Caroline Schluth-Bolard,Laïla El Khattabi,Pierre Antoine Rollat Farnier,Nicolas Chatron,Marion Beaumontet al. Journal of Medical Genetics, 2025, ⟨10.1136/jmg-2025-110838⟩ Article dans une revue hal-05246796v1
Performance comparisons between clustering models for reconstructing NGS results from technical replicates Yue Zhai,Claire Bardel,Maxime Vallée,Jean Iwaz,Pascal Roy Frontiers in Genetics, 2023, 14, ⟨10.3389/fgene.2023.1148147⟩ Article dans une revue hal-04382909v1
A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia Xavier Vanhoye,Claire Bardel,Antoine Rimbert,Philippe Moulin,Pierre-Antoine Rollat-Farnieret al. Translational Research, The Journal of Laboratory and Clinical Medicine, 2023, 255, pp.119-127. ⟨10.1016/j.trsl.2022.12.002⟩ Article dans une revue hal-04172500v1
The first 1 000 days concept and the impact on children's health Laurent Storme,C. Bardel,C. Etienne,R. Boukhris,B. Duportet al. Correspondances en Métabolismes, Hormones, Diabètes et Nutrition, 2023, Correspondances en Métabolismes, Hormones, Diabètes et Nutrition, 27 Article dans une revue hal-04550974v1
Paired Comparison of Routine Molecular Screening of Patient Samples with Advanced Non-Small Cell Lung Cancer in Circulating Cell-Free DNA Using Three Targeted Assays David Barthelemy,Gaelle Lescuyer,Florence Geiguer,Emmanuel Grolleau,Arnaud Gauthieret al. Cancers, 2023, 15 (5), pp.1574. ⟨10.3390/cancers15051574⟩ Article dans une revue hal-04382917v1
Transposable element expression with variation in sex chromosome number: insights into a toxic Y effect on human longevity Jordan Teoli,Miriam Merenciano,Marie Fablet,Anamaria Necsulea,Daniel Siqueira-De-Oliveiraet al. Peer Community In Genomics, 2023, ⟨10.1101/2023.08.03.550779⟩ Article dans une revue hal-04923419v1
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination Julie Masson,Céline Pebrel-Richard,Matthieu Egloff,Mathilde Frétigny,Marion Beaumontet al. Clinical Genetics, 2023, 103 (4), pp.401-412. ⟨10.1111/cge.14291⟩ Article dans une revue hal-04382969v1
Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio Hifi® Long-Read and Illumina Short-Read Sequencing David Barthélémy,Elodie Belmonte,Laurie Di Pilla,Claire Bardel,Eve Duportet al. Journal of Personalized Medicine, 2023, 13 (12), pp.1655. ⟨10.3390/jpm13121655⟩ Article dans une revue hal-04382767v1
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A Yohann Jourdy,Claire Bardel,Mathilde Fretigny,Flavie Diguet,Pierre‐antoine Rollat-Farnieret al. Haemophilia, 2021, 28 (1), pp.117-124. ⟨10.1111/hae.14402⟩ Article dans une revue hal-04382986v1
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency? Louis Januel,Valérie Chanavat,Pierre-Antoine Rollat-Farnier,Claire Bardel,Severine Nonyet al. DNA and Cell Biology, 2021, 40 (3), pp.491-498. ⟨10.1089/dna.2020.6305⟩ Article dans une revue hal-04382997v1
Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies Sandrine Hayette,Béatrice Grange,Maxime Vallee,Claire Bardel,Sarah Huetet al. HemaSphere, 2021, 5 (2), pp.e522. ⟨10.1097/HS9.0000000000000522⟩ Article dans une revue hal-04382990v1
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia Sophie Giraud,Claire Bardel,Sophie Dupuis-Girod,Marie-France Carette,Brigitte Gilbert-Dussardieret al. Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.254. ⟨10.1186/s13023-020-01533-2⟩ Article dans une revue hal-03104655v1
Comparison of Nucleic Acid Extraction Methods for a Viral Metagenomics Analysis of Respiratory Viruses Marina Sabatier,Antonin Bal,Grégory Destras,Hadrien Regue,Grégory Quéromèset al. Microorganisms, 2020, 8 (10), pp.1539. ⟨10.3390/microorganisms8101539⟩ Article dans une revue hal-04383021v1
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts Alexandre Belot,Gillian Rice,Sulliman Ommar Omarjee,Quentin Rouchon,Eve Smithet al. The Lancet Rheumatology, 2020, 2 (2), pp.e99-e109. ⟨10.1016/S2665-9913(19)30142-0⟩ Article dans une revue hal-02867795v1
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization Kévin Uguen,Claire Jubin,Yannis Duffourd,Claire Bardel,Valérie Malanet al. Molecular Genetics & Genomic Medicine, 2020, 8 (3), pp.1-10. ⟨10.1002/mgg3.1114⟩ Article dans une revue hal-04383042v1
Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis Hélène Lasolle,Mad-Hélénie Elsensohn,Anne Wierinckx,Eudeline Alix,Clément Bonnefilleet al. Acta Neuropathologica Communications, 2020, 8 (1), pp.190. ⟨10.1186/s40478-020-01067-5⟩ Article dans une revue hal-04383012v1
PCSK9 post-transcriptional regulation: Role of a 3′UTR microRNA-binding site variant in linkage disequilibrium with c.1420G Charlotte Decourt,Alexandre Janin,Marine Moindrot,Nicolas Chatron,Séverine Nonyet al. Atherosclerosis, 2020, 314, pp.63-70. ⟨10.1016/j.atherosclerosis.2020.10.010⟩ Article dans une revue hal-03152577v1
In vivo characterisation of the toxicological properties of DPhP, one of the main degradation products of aryl phosphate esters Samia Selmi-Ruby,Jesús Marín-Sáez,Aurélie Fildier,Audrey Buleté,Myriam Abdallahet al. Environmental Health Perspectives, 2020, 128 (12), pp.127006. ⟨10.1289/EHP6826⟩ Article dans une revue hal-03013621v1
Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia Oriane Marmontel,Pierre Antoine Rollat‐farnier,Anne‐sophie Wozny,Sybil Charrière,Xavier Vanhoyeet al. Clinical Genetics, 2020, 98 (6), pp.589-594. ⟨10.1111/cge.13832⟩ Article dans une revue hal-03153055v1
Impact of interleukin‐6 on drug transporters and permeability in the hCMEC/D3 blood–brain barrier model Florian Simon,Laetitia Guyot,Jessica Garcia,Gaelle Vilchez,Claire Bardelet al. Fundamental & Clinical Pharmacology, 2020, 35 (2), pp.397-409. ⟨10.1111/fcp.12596⟩ Article dans une revue hal-04383035v1
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia Sophie Giraud,Claire Bardel,Sophie Dupuis-Girod,Marie-France Carette,Brigitte Gilbert-Dussardieret al. Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.254. ⟨10.1186/s13023-020-01533-2⟩ Article dans une revue hal-03985098v1
Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia Oriane Marmontel,Pierre Antoine Rollat-Farnier,Anne‐sophie Wozny,Sybil Charrière,Xavier Vanhoyeet al. Clinical Genetics, 2020, 98 (6), pp.589-594. ⟨10.1111/cge.13832⟩ Article dans une revue hal-04383017v1
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia Sophie Giraud,Claire Bardel,Sophie Dupuis-Girod,Marie-France Carette,Brigitte Gilbert-Dussardieret al. Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.254. ⟨10.1186/s13023-020-01533-2⟩ Article dans une revue hal-04073478v1
Impact of Interleukin-6 on Drug-Metabolizing Enzymes and Transporters in Intestinal Cells Florian Simon,Jessica Garcia,Laetitia Guyot,Jérôme Guitton,Gaelle Vilchezet al. AAPS Journal, 2019, 22 (1), pp.16. ⟨10.1208/s12248-019-0395-x⟩ Article dans une revue hal-04383050v1
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis Nicolas Chatron,Kevin Cassinari,Olivier Quenez,Stéphanie Baert‐desurmont,Claire Bardelet al. Human Mutation, 2019, 40 (11), pp.1993-2000. ⟨10.1002/humu.23845⟩ Article dans une revue hal-02339267v1
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy Alexandre Janin,Valérie Chanavat,Pierre‐antoine Rollat-Farnier,Claire Bardel,Karine Nguyenet al. Human Mutation, 2019, 41 (2), pp.465-475. ⟨10.1002/humu.23944⟩ Article dans une revue hal-04383056v1
Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis Alain Calender,Clarice Lim,Thomas Weichhart,Adrien Buisson,Valérie Besnardet al. European Respiratory Journal, 2019, 54 (2), pp.1900430. ⟨10.1183/13993003.00430-2019⟩ Article dans une revue hal-04117643v1
International longitudinal registry of patients with atrial fibrillation and treated with rivaroxaban: RIVaroxaban Evaluation in Real life setting (RIVER) Sophie Giraud,Claire Bardel,Sophie Dupuis-Girod,Marie-France Carette,Brigitte Gilbert-Dussardieret al. Thrombosis Journal, 2019, 17 (1), pp.7. ⟨10.1186/s12959-019-0195-7⟩ Article dans une revue hal-04050384v1
Comparison of crossover and parallel‐group designs for the identification of a binary predictive biomarker of the treatment effect Guillaume Grenet,Corentin Blanc,Claire Bardel,François Gueyffier,Pascal Roy Basic and Clinical Pharmacology and Toxicology, 2019, 126 (1), pp.59-64. ⟨10.1111/bcpt.13293⟩ Article dans une revue hal-04152441v1
Structure-activity relationship study: Mechanism of cyto-genotoxicity of Nitropyrazole-derived high energy density materials family Laetitia Guyot,Florian Simon,Jessica Garcia,Floriane Vanhalle,Gaelle Vilchezet al. Toxicology and Applied Pharmacology, 2019, 381, pp.114712. ⟨10.1016/j.taap.2019.114712⟩ Article dans une revue hal-04383061v1
Structure-activity relationship study: Mechanism of cyto-genotoxicity of Nitropyrazole-derived high energy density materials family Laetitia Guyot,Florian Simon,Jessica Garcia,Floriane Vanhalle,Gaelle Vilchezet al. Toxicology and Applied Pharmacology, 2019, 381, pp.114712 -. ⟨10.1016/j.taap.2019.114712⟩ Article dans une revue hal-03487645v1
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Caroline Schluth-Bolard,Flavie Diguet,Nicolas Chatron,Pierre-Antoine Rollat-Farnier,Claire Bardelet al. Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩ Article dans une revue hal-03863519v1
Comparison of crossover and parallel‐group designs for the identification of a binary predictive biomarker of the treatment effect Guillaume Grenet,Corentin Blanc,Claire Bardel,François Gueyffier,Pascal Roy Basic and Clinical Pharmacology and Toxicology, 2019, 126 (1), pp.59-64. ⟨10.1111/bcpt.13293⟩ Article dans une revue hal-04383067v1
Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy O. Marmontel,S. Charrière,T. Simonet,V. Bonnet,S. Dumontet al. Clinical Genetics, 2018, 94 (1), pp.132-140. ⟨10.1111/cge.13250⟩ Article dans une revue hal-04383098v1
Centralization errors in comparative genomic hybridization array analysis of pituitary tumor samples Hélène Lasolle,Eudeline Alix,Clément Bonnefille,Mad‐hélénie Elsensohn,Jessica Michelet al. Genes, Chromosomes & Cancer, 2018, 57 (6), pp.320-328. ⟨10.1002/gcc.22534⟩ Article dans une revue hal-04383109v1
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy Oriane Marmontel,Sybil Charriere,T. Simonet,V. Bonnet,S. Dumontet al. Clinical Genetics, 2018, 94 (1), pp.132-140. ⟨10.1111/cge.13250⟩ Article dans une revue hal-01847509v1
Cross-platform comparison for the detection of RAS mutations in cfDNA (ddPCR Biorad detection assay, BEAMing assay, and NGS strategy) Jessica Garcia,Julien Forestier,Eric Dusserre,Anne-Sophie Wozny,Florence Geigueret al. Oncotarget, 2018, 9 (30), pp.21122-21131. ⟨10.18632/oncotarget.24950⟩ Article dans une revue hal-03625758v1
Cross-platform comparison for the detection of RAS mutations in cfDNA (ddPCR Biorad detection assay, BEAMing assay, and NGS strategy) Jessica Garcia,Julien Forestier,Eric Dusserre,Anne-Sophie Wozny,Florence Geigueret al. Oncotarget, 2018, 9 (30), pp.21122-21131. ⟨10.18632/oncotarget.24950⟩ Article dans une revue hal-04383088v1
What Does This Mutation Mean? The Tools and Pitfalls of Variant Interpretation in Lymphoid Malignancies Yann Guillermin,Jonathan Lopez,Kaddour Chabane,Sandrine Hayette,Claire Bardelet al. International Journal of Molecular Sciences, 2018, 19 (4), pp.1251. ⟨10.3390/ijms19041251⟩ Article dans une revue hal-04383093v1
Toxicokinetics and tolerance of a high energy material 3,4,5-trinitropyrazole (TNP) in mice Laetitia Guyot,Myléne Honorat,Guy Jacob,Claire Bardel,Michel Todet al. Toxicology and Applied Pharmacology, 2018, 355, pp.103-111. ⟨10.1016/j.taap.2018.06.023⟩ Article dans une revue hal-04383081v1
Centralization errors in comparative genomic hybridization array analysis of pituitary tumor samples Hélène Lasolle,Eudeline Alix,Clément Bonnefille,Mad-Hélénie Elsensohn,Jessica Michelet al. Genes, Chromosomes and Cancer, 2018, 57 (6), pp.320-328. ⟨10.1002/gcc.22534⟩ Article dans une revue hal-04152521v1
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis Alain Calender,Pierre Antoine Rollat Farnier,Adrien Buisson,Stéphane Pinson,Abderrazzaq Bentaheret al. BMC Medical Genomics, 2018, 11 (1), pp.23. ⟨10.1186/s12920-018-0338-x⟩ Article dans une revue hal-04383104v1
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis Alain Calender,Pierre Antoine Rollat Farnier,Adrien Buisson,Stéphane Pinson,Abderrazzaq Bentaheret al. BMC Medical Genomics, 2018, 11 (1), pp.23. ⟨10.1186/s12920-018-0338-x⟩ Article dans une revue inserm-01728520v1
Transcriptional regulation of CRMP5 controls neurite outgrowth through Sox5 Nicolas Naudet,Aubin Moutal,Hong Nhung Vu,Naura Chounlamountri,Chantal Watrinet al. Cellular and Molecular Life Sciences, 2018, 75 (1), pp.67-79. ⟨10.1007/s00018-017-2634-6⟩ Article dans une revue hal-03398982v1
Transcriptional regulation of CRMP5 controls neurite outgrowth through Sox5 Nicolas Naudet,Aubin Moutal,Hong Nhung Vu,Naura Chounlamountri,Chantal Watrinet al. Cellular and Molecular Life Sciences, 2017, 75 (1), pp.67-79. ⟨10.1007/s00018-017-2634-6⟩ Article dans une revue hal-04383114v1
Statistical method to compare massive parallel sequencing pipelines M.H. Elsensohn,Noémie Leblay,S. Dimassi,A. Campan-Fournier,A. Labalmeet al. BMC Bioinformatics, 2017, 18, pp.139. ⟨10.1186/s12859-017-1552-9⟩ Article dans une revue hal-02049676v1
Strong incidence of pseudomonas aeruginosa on bacterial rrs and ITS genetic structures of cystic fibrosis sputa Laurence Pages-Monteiro,Romain Martin,Carine Commun,Nolwenn Alliot,Claire Bardelet al. PLoS ONE, 2017, 12 (3), pp.1-19. ⟨10.1371/journal.pone.0173022⟩ Article dans une revue hal-01606726v1
A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus Lenha Mobuchon,Aude Battistella,Claire Bardel,Ghislaine Scelo,Alexia Renoudet al. npj Genomic Medicine, 2017, 2 (1), pp.5. ⟨10.1038/s41525-017-0008-5⟩ Article dans une revue cea-04513375v1
Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort Yves Pacheco,Alain Calender,Dominique Israël-Biet,Pascal Roy,Serge Lebecqueet al. Orphanet Journal of Rare Diseases, 2016, 11 (1), ⟨10.1186/s13023-016-0546-4⟩ Article dans une revue hal-01595465v1
CSF IgA NMDAR antibodies are potential biomarkers for teratomas in anti-NMDAR encephalitis V. Desestret,A. Chefdeville,A. Viaccoz,C. Bost,F. Ducrayet al. Neurology Neuroimmunology & Neuroinflammation, 2015, 2 (6), pp.e166. ⟨10.1212/NXI.0000000000000166⟩ Article dans une revue hal-02044951v1
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA S. Dimassi,T. Simonet,A. Labalme,N. Boutry-Kryza,Amandine Campan-Fournieret al. Applied & Translational Genomics, 2015, 7, pp.19-25. ⟨10.1016/j.atg.2015.10.001⟩ Article dans une revue hal-02044950v1
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers S. Blein,Claire Bardel,V. Danjean,L. Mcguffog,S. Healeyet al. Breast Cancer Research, 2015, 17, pp.61. ⟨10.1186/s13058-015-0567-2⟩ Article dans une revue hal-02071165v1
The alpha-globin genotype does not inﬂuence sickle cell disease severity in a retrospective cross-validation study of the pediatric severity score Pascal Joly,C. Pondarré,C. Bardel,A. Francina,C. Martin European Journal of Haematology, 2012, 88, pp.61-67 Article dans une revue hal-00697964v1
Solid lipid nanoparticles suspension versus commercial solutions for dermal delivery of minoxidil Karine Padois,Celine Cantieni,Valerie Bertholle,Claire Bardel,Fabrice Pirotet al. International Journal of Pharmaceutics, 2011, 416 (1), pp.300 - 304. ⟨10.1016/j.ijpharm.2011.06.014⟩ Article dans une revue istex hal-02646927v1
Solid lipid nanoparticles suspension versus commercial solutions for dermal delivery of minoxidil K. Padois,C. Cantiéni,V. Bertholle,C. Bardel,F. Pirotet al. International Journal of Pharmaceutics, 2011, 416, pp.300-304 Article dans une revue hal-00698108v1
A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes C. Dubertret,C. Bardel,N. Ramoz,P-M. Martin,J-C. Deybachet al. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2010, 34, pp.492-499 Article dans une revue hal-00698440v1
The XmnI Gγ polymorphism inﬂuences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57β-thalassemia intermedia patients T. Nguyen T.K.,Pascal Joly,C. Bardel,M. Moulsma,Nathalie Bonello-Palotet al. Blood Cells, Molecules and Diseases, 2010, 45, pp.124-127 Article dans une revue hal-00698087v1
On the Use of Phylogeny-Based Tests to Detect Association between Quantitative Traits and Haplotypes Claire Bardel,Vincent Danjean,Pierre-Emmanuel Morange,Emmanuelle Génin,Pierre Darlu Genetic Epidemiology, 2009, 33 (8), pp.729-739. ⟨10.1002/gepi.20425⟩ Article dans une revue istex hal-00800411v1
Data Mining Neural Nets Trees -- Problems 2 and 3 of Genetic Analysis Workshop 15 A. Ziegler,A.L. Destefano,R. König,C. Bardel,D. Brinzaet al. Genetic Epidemiology, 2007, 31, pp.S51-S60 Article dans une revue hal-00698356v1
Efficiency of multiple imputation to test for association in the presence of missing data. Pascal Croiseau,Emmanuelle Génin,Claire Bardel BMC Proceedings, 2007, 1 Suppl 1 (Suppl 1), pp.S24 Article dans une revue inserm-00143688v1
Data Mining, Neural Nets, Trees \textemdash Problems 2 and 3 of Genetic Analysis Workshop 15 A. Ziegler,A. L. Destefano,R. König,Claire Bardel,D. Brinzaet al. Genetic Epidemiology, 2007, 31, pp.S51--S60 Article dans une revue hal-01887878v1
Dealing with missing phase and missing data in phylogeny-based analysis. Claire Bardel,Pascal Croiseau,Emmanuelle Génin BMC Proceedings, 2007, 1 Suppl 1 (1), pp.S22 Article dans une revue inserm-00284150v1
On the use of haplotype phylogeny to detect disease susceptibility loci. Claire Bardel,Vincent Danjean,Jean-Pierre Hugot,Pierre Darlu,Emmanuelle Génin BMC Genetics, 2005, 6, pp.24. ⟨10.1186/1471-2156-6-24⟩ Article dans une revue inserm-00090521v1

Communication dans un congrès (4)

What is the best solution to manage failures of chromosomal structural variations detection by short-read strategy? Caroline Schluth-Bolard,Laïla El-Khattabi,Nicolas Chatron,Marion Beaumont,Nicolas Reynaudet al. 54th European Society of Human Genetics (ESHG) Conference, Jun 2022, Vienne, Austria. pp.80-81 Communication dans un congrès cea-04352532v1
The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms N. Chatron,G. Giannuzzi,P. Rollat-Farnier,F. Diguet,E. Porcuet al. 53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.5-6, ⟨10.1038/s41431-020-00740-6⟩ Communication dans un congrès hal-03131441v1
Syndrome de Klinefelter, rôle du chromosome Y dans l’espérance de vie humaine ? Jordan Teoli,Claire Bardel,Marie Fablet,Gabriel Marais,François Gueyffieret al. 36ème Congrès de la Société Française d'Endocrinologie (SFE Marseille 2020), Oct 2020, Marseille, France. pp.194, ⟨10.1016/j.ando.2020.07.150⟩ Communication dans un congrès hal-03060317v1
A genetic landscape of familial predisposition to sarcoidosis identified by whole exome sequencing Alain Calender,Yves Pacheco,Pierre Antoine Rollat Farnier,Claire Bardel,Pascal Sèveet al. European Respiratory Society (ERS) Congress,, Sep 2017, Londres, United Kingdom Communication dans un congrès inserm-04157728v1