Bardel-Danjean Claire

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, Jean‐michel Dupont...

Molecular Genetics & Genomic Medicine . : 1-10

DOI: 10.1002/mgg3.1114

2020

Journal article

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The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

N. Chatron, G. Giannuzzi, P. Rollat-Farnier, F. Diguet, E. Porcu, T. Yammine...

European Journal of Human Genetics . 28 ( SUPPL 1 ) : 5-6

DOI: 10.1038/s41431-020-00740-6

2020

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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, Thomas Simonet...

Clinical Genetics . 98 ( 6 ) : 589-594

DOI: 10.1111/cge.13832

2020

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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, Marion Moreews...

The Lancet Rheumatology . 2 ( 2 ) : e99-e109

DOI: 10.1016/S2665-9913(19)30142-0

2020

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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, Manon Muntaner...

Atherosclerosis . 314 : 63-70

DOI: 10.1016/j.atherosclerosis.2020.10.010

2020

Journal article

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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, Sophie Riviere...

Orphanet Journal of Rare Diseases . 15 ( 1 ) : 254

DOI: 10.1186/s13023-020-01533-2

2020

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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, Marion Moreews...

The Lancet Rheumatology . 2 ( 2 ) : e99-e109

DOI: 10.1016/S2665-9913(19)30142-0

2020

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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, Jessica Garcia...

Environmental Health Perspectives . 128 ( 12 )

DOI: 10.1289/EHP6826

2020

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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, Alexandra Afenjar...

Journal of Medical Genetics . 56 ( 8 ) : 526-535

DOI: 10.1136/jmedgenet-2018-105778

2019

Journal article

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

Nicolas Chatron, Kevin Cassinari, Olivier Quenez, Stéphanie Baert‐desurmont, Claire Bardel, Marie‐pierre Buisine...

Human Mutation . 40 ( 11 ) : 1993-2000

DOI: 10.1002/humu.23845

2019

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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, M. Mahl...

Clinical Genetics . 94 ( 1 ) : 132-140

DOI: 10.1111/cge.13250

2018

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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, Serge Lebecque...

BMC Medical Genomics . 11 ( 1 ) : 23

DOI: 10.1186/s12920-018-0338-x

2018

Journal article

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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, Hélène Meugnier...

PLoS ONE . 12 ( 3 ) : 1-19

DOI: 10.1371/journal.pone.0173022

2017

Journal article

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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, Vincent Cottin...

Orphanet Journal of Rare Diseases . 11 ( 1 ) : np

DOI: 10.1186/s13023-016-0546-4

2016

Journal article

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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, D. Barrowdale...

Breast Cancer Research . 17 : 61

DOI: 10.1186/s13058-015-0567-2

2015

Journal article

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

V. Desestret, A. Chefdeville, A. Viaccoz, C. Bost, F. Ducray, G. Picard...

Neurology Neuroimmunology & Neuroinflammation . 2 ( 6 ) : e166

DOI: 10.1212/NXI.0000000000000166

2015

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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, R. Lamy...

Applied & Translational Genomics . 7 : 19-25

DOI: 10.1016/j.atg.2015.10.001

2015

Journal article

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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 . 88 : 61-67

2012

Journal article

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

Karine Padois, Celine Cantieni, Valerie Bertholle, Claire Bardel, Fabrice Pirot, Francoise Faison

International Journal of Pharmaceutics . 416 ( 1 ) : 300 - 304

DOI: 10.1016/j.ijpharm.2011.06.014

2011

Journal article

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

K. Padois, C. Cantiéni, V. Bertholle, C. Bardel, F. Pirot, F. Falson

International Journal of Pharmaceutics . 416 : 300-304

2011

Journal article

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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, A. Francina

Blood Cells, Molecules and Diseases . 45 : 124-127

2010

Journal article

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

C. Dubertret, C. Bardel, N. Ramoz, P-M. Martin, J-C. Deybach, J. Adès...

Progress in Neuro-Psychopharmacology and Biological Psychiatry . 34 : 492-499

2010

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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 . 33 ( 8 ) : 729-739

DOI: 10.1002/gepi.20425

2009

Journal article

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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 . 1 Suppl 1 ( Suppl 1 ) : S24

2007

Journal article

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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, S. Bull...

Genetic Epidemiology . 31 : S51--S60

2007

Journal article

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Dealing with missing phase and missing data in phylogeny-based analysis.

Claire Bardel, Pascal Croiseau, Emmanuelle Génin

BMC Proceedings . 1 Suppl 1 ( 1 ) : S22

2007

Journal article

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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, S. Bull...

Genetic Epidemiology . 31 : S51-S60

2007

Journal article

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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 . 6 : 24

DOI: 10.1186/1471-2156-6-24

2005

Journal article

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Publications

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

PCSK9 post-transcriptional regulation: Role of a 3′UTR microRNA-binding site variant in linkage disequilibrium with c.1420G

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

In vivo characterisation of the toxicological properties of DPhP, one of the main degradation products of aryl phosphate esters

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

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

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy

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

Strong incidence of pseudomonas aeruginosa on bacterial rrs and ITS genetic structures of cystic fibrosis sputa

Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

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

Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA

The alpha-globin genotype does not inﬂuence sickle cell disease severity in a retrospective cross-validation study of the pediatric severity score

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

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

The XmnI Gγ polymorphism inﬂuences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57β-thalassemia intermedia patients

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

On the Use of Phylogeny-Based Tests to Detect Association between Quantitative Traits and Haplotypes

Efficiency of multiple imputation to test for association in the presence of missing data.

Data Mining, Neural Nets, Trees \textemdash Problems 2 and 3 of Genetic Analysis Workshop 15

Dealing with missing phase and missing data in phylogeny-based analysis.

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

On the use of haplotype phylogeny to detect disease susceptibility loci.