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Claire Bardel

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Publications

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 Duport
Journal of Personalized Medicine, 2023, 13 (12), pp.1655. ⟨10.3390/jpm13121655⟩
Journal articles hal-04382767v1

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination

Julie Masson , Céline Pebrel-Richard , Matthieu Egloff , Mathilde Frétigny , Marion Beaumont
Clinical Genetics, 2023, 103 (4), pp.401-412. ⟨10.1111/cge.14291⟩
Journal articles hal-04382969v1

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 Gauthier
Cancers, 2023, 15 (5), pp.1574. ⟨10.3390/cancers15051574⟩
Journal articles hal-04382917v1

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⟩
Journal articles hal-04382909v1

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 Nony
DNA and Cell Biology, 2021, 40 (3), pp.491-498. ⟨10.1089/dna.2020.6305⟩
Journal articles hal-04382997v1

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-Farnier
Haemophilia, 2021, 28 (1), pp.117-124. ⟨10.1111/hae.14402⟩
Journal articles hal-04382986v1

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 Huet
HemaSphere, 2021, 5 (2), pp.e522. ⟨10.1097/HS9.0000000000000522⟩
Journal articles hal-04382990v1

Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis

Hélène Lasolle , Mad-Hélénie Elsensohn , Anne Wierinckx , Eudeline Alix , Clément Bonnefille
Acta Neuropathologica Communications, 2020, 8 (1), pp.190. ⟨10.1186/s40478-020-01067-5⟩
Journal articles hal-04383012v1

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 Vanhoye
Clinical Genetics, 2020, 98 (6), pp.589-594. ⟨10.1111/cge.13832⟩
Journal articles 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 Bardel
Fundamental & Clinical Pharmacology, 2020, 35 (2), pp.397-409. ⟨10.1111/fcp.12596⟩
Journal articles hal-04383035v1

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 Vanhoye
Clinical Genetics, 2020, 98 (6), pp.589-594. ⟨10.1111/cge.13832⟩
Journal articles hal-04383017v1
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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 Nony
Atherosclerosis, 2020, 314, pp.63-70. ⟨10.1016/j.atherosclerosis.2020.10.010⟩
Journal articles hal-03152577v1
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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 Abdallah
Environmental Health Perspectives, 2020, 128 (12), ⟨10.1289/EHP6826⟩
Journal articles hal-03013621v1

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 Malan
Molecular Genetics & Genomic Medicine, 2020, pp.1-10. ⟨10.1002/mgg3.1114⟩
Journal articles hal-02467795v1

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 Nony
Atherosclerosis, 2020, 314, pp.63-70. ⟨10.1016/j.atherosclerosis.2020.10.010⟩
Journal articles hal-04383010v1
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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 Smith
The Lancet Rheumatology, 2020, 2 (2), pp.e99-e109. ⟨10.1016/S2665-9913(19)30142-0⟩
Journal articles hal-03065973v1

In Vivo Characterization 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 Abdallah
Environmental Health Perspectives, 2020, 128 (12), ⟨10.1289/EHP6826⟩
Journal articles hal-04383006v1
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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-Dussardier
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.254. ⟨10.1186/s13023-020-01533-2⟩
Journal articles hal-03104655v1

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-Dussardier
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.254. ⟨10.1186/s13023-020-01533-2⟩
Journal articles hal-04383025v1

Comparison of Nucleic Acid Extraction Methods for a Viral Metagenomics Analysis of Respiratory Viruses

Marina Sabatier , Antonin Bal , Grégory Destras , Hadrien Regue , Grégory Quéromès
Microorganisms, 2020, 8 (10), pp.1539. ⟨10.3390/microorganisms8101539⟩
Journal articles hal-04383021v1

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 Malan
Molecular Genetics & Genomic Medicine, 2020, 8 (3), ⟨10.1002/mgg3.1114⟩
Journal articles hal-04383042v1
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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 Smith
The Lancet Rheumatology, 2020, 2 (2), pp.e99-e109. ⟨10.1016/S2665-9913(19)30142-0⟩
Journal articles hal-02867795v1

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 Nguyen
Human Mutation, 2019, 41 (2), pp.465-475. ⟨10.1002/humu.23944⟩
Journal articles hal-04383056v1

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 Bardel
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal articles hal-04383078v1

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⟩
Journal articles hal-04383067v1
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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal articles hal-03863519v1

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 Vilchez
Toxicology and Applied Pharmacology, 2019, 381, pp.114712. ⟨10.1016/j.taap.2019.114712⟩
Journal articles hal-04383061v1

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Nicolas Chatron , Kevin Cassinari , Olivier Quenez , Stéphanie Baert‐desurmont , Claire Bardel
Human Mutation, 2019, 40 (11), pp.1993-2000. ⟨10.1002/humu.23845⟩
Journal articles hal-02339267v1

Impact of Interleukin-6 on Drug-Metabolizing Enzymes and Transporters in Intestinal Cells

Florian Simon , Jessica Garcia , Laetitia Guyot , Jérôme Guitton , Gaelle Vilchez
AAPS Journal, 2019, 22 (1), pp.16. ⟨10.1208/s12248-019-0395-x⟩
Journal articles hal-04383050v1

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. Dumont
Clinical Genetics, 2018, 94 (1), pp.132-140. ⟨10.1111/cge.13250⟩
Journal articles hal-01847509v1

Toxicokinetics and tolerance of a high energy material 3,4,5-trinitropyrazole (TNP) in mice

Laetitia Guyot , Myléne Honorat , Guy Jacob , Claire Bardel , Michel Tod
Toxicology and Applied Pharmacology, 2018, 355, pp.103-111. ⟨10.1016/j.taap.2018.06.023⟩
Journal articles hal-04383081v1

What Does This Mutation Mean? The Tools and Pitfalls of Variant Interpretation in Lymphoid Malignancies

Yann Guillermin , Jonathan Lopez , Kaddour Chabane , Sandrine Hayette , Claire Bardel
International Journal of Molecular Sciences, 2018, 19 (4), pp.1251. ⟨10.3390/ijms19041251⟩
Journal articles hal-04383093v1
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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 Geiguer
Oncotarget, 2018, 9 (30), pp.21122-21131. ⟨10.18632/oncotarget.24950⟩
Journal articles hal-04383088v1

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Alain Calender , Pierre Antoine Rollat Farnier , Adrien Buisson , Stéphane Pinson , Abderrazzaq Bentaher
BMC Medical Genomics, 2018, 11 (1), pp.23. ⟨10.1186/s12920-018-0338-x⟩
Journal articles hal-04383104v1
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Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Alain Calender , Pierre Antoine Rollat Farnier , Adrien Buisson , Stéphane Pinson , Abderrazzaq Bentaher
BMC Medical Genomics, 2018, 11 (1), pp.23. ⟨10.1186/s12920-018-0338-x⟩
Journal articles inserm-01728520v1

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. Dumont
Clinical Genetics, 2018, 94 (1), pp.132-140. ⟨10.1111/cge.13250⟩
Journal articles hal-04383098v1

Centralization errors in comparative genomic hybridization array analysis of pituitary tumor samples

Hélène Lasolle , Eudeline Alix , Clément Bonnefille , Mad‐hélénie Elsensohn , Jessica Michel
Genes, Chromosomes & Cancer, 2018, 57 (6), pp.320-328. ⟨10.1002/gcc.22534⟩
Journal articles hal-04383109v1

Transcriptional regulation of CRMP5 controls neurite outgrowth through Sox5

Nicolas Naudet , Aubin Moutal , Hong Nhung Vu , Naura Chounlamountri , Chantal Watrin
Cellular and Molecular Life Sciences, 2017, 75 (1), pp.67-79. ⟨10.1007/s00018-017-2634-6⟩
Journal articles hal-04383114v1
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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 Bardel
PLoS ONE, 2017, 12 (3), pp.1-19. ⟨10.1371/journal.pone.0173022⟩
Journal articles hal-01606726v1
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Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

Yves Pacheco , Alain Calender , Dominique Israël-Biet , Pascal Roy , Serge Lebecque
Orphanet Journal of Rare Diseases, 2016, 11 (1), ⟨10.1186/s13023-016-0546-4⟩
Journal articles hal-01595465v1

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. Healey
Breast Cancer Research, 2015, 17, pp.61. ⟨10.1186/s13058-015-0567-2⟩
Journal articles hal-02071165v1

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-Fournier
Applied & Translational Genomics, 2015, 7, pp.19-25. ⟨10.1016/j.atg.2015.10.001⟩
Journal articles hal-02044950v1

CSF IgA NMDAR antibodies are potential biomarkers for teratomas in anti-NMDAR encephalitis

V. Desestret , A. Chefdeville , A. Viaccoz , C. Bost , F. Ducray
Neurology Neuroimmunology & Neuroinflammation, 2015, 2 (6), pp.e166. ⟨10.1212/NXI.0000000000000166⟩
Journal articles hal-02044951v1

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
Journal articles hal-00697964v1

Solid lipid nanoparticles suspension versus commercial solutions for dermal delivery of minoxidil

Karine Padois , Celine Cantieni , Valerie Bertholle , Claire Bardel , Fabrice Pirot
International Journal of Pharmaceutics, 2011, 416 (1), pp.300 - 304. ⟨10.1016/j.ijpharm.2011.06.014⟩
Journal articles hal-02646927v1

Solid lipid nanoparticles suspension versus commercial solutions for dermal delivery of minoxidil

K. Padois , C. Cantiéni , V. Bertholle , C. Bardel , F. Pirot
International Journal of Pharmaceutics, 2011, 416, pp.300-304
Journal articles hal-00698108v1

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-Palot
Blood Cells, Molecules and Diseases, 2010, 45, pp.124-127
Journal articles hal-00698087v1

A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes

C. Dubertret , C. Bardel , N. Ramoz , P-M. Martin , J-C. Deybach
Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2010, 34, pp.492-499
Journal articles hal-00698440v1

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⟩
Journal articles hal-00800411v1
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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
Journal articles 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. Brinza
Genetic Epidemiology, 2007, 31, pp.S51--S60
Journal articles hal-01887878v1
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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
Journal articles inserm-00284150v1

Data Mining Neural Nets Trees -- Problems 2 and 3 of Genetic Analysis Workshop 15

A. Ziegler , A.L. Destefano , R. König , C. Bardel , D. Brinza
Genetic Epidemiology, 2007, 31, pp.S51-S60
Journal articles hal-00698356v1
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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⟩
Journal articles inserm-00090521v1