Bardel-Danjean Claire

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

see the publication

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, Alain Puisieux...

Toxicology and Applied Pharmacology . 355 : 103-111

DOI: 10.1016/j.taap.2018.06.023

2018

Journal article

see the publication

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, M. Mahl...

Clinical Genetics . 94 ( 1 ) : 132-140

DOI: 10.1111/cge.13250

2018

Journal article

see the publication

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, Gilles Salles...

International Journal of Molecular Sciences . 19 ( 4 ) : 1251

DOI: 10.3390/ijms19041251

2018

Journal article

see the publication

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, Patrick Merle...

Oncotarget . 9 ( 30 ) : 21122-21131

DOI: 10.18632/oncotarget.24950

2018

Journal article

see the publication

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

Hélène Lasolle, Eudeline Alix, Clément Bonnefille, Mad‐hélénie Elsensohn, Jessica Michel, Damien Sanlaville...

Genes, Chromosomes & Cancer . 57 ( 6 ) : 320-328

DOI: 10.1002/gcc.22534

2018

Journal article

see the publication

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

Journal article

see the publication

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

see the publication

Transcriptional regulation of CRMP5 controls neurite outgrowth through Sox5

Nicolas Naudet, Aubin Moutal, Hong Nhung Vu, Naura Chounlamountri, Chantal Watrin, Sylvie Cavagna...

Cellular and Molecular Life Sciences . 75 ( 1 ) : 67-79

DOI: 10.1007/s00018-017-2634-6

2017

Journal article

see the publication

A genetic landscape of familial predisposition to sarcoidosis identified by whole exome sequencing

Alain Calender, Yves Pacheco, Pierre Antoine Rollat Farnier, Claire Bardel, Pascal Sève, Gilles Devouassoux...

European Respiratory Society (ERS) Congress, .

2017

Conference paper

see the publication

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

see the publication

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

see the publication

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

see the publication

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

see the publication

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

Journal article

see the publication

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

see the publication

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

see the publication

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

see the publication

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

see the publication

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

Journal article

see the publication

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

see the publication

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

see the publication

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

see the publication

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

see the publication

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

see the publication

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

see the publication

Publications

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

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

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

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

Cross-platform comparison for the detection of RAS mutations in cfDNA (ddPCR Biorad detection assay, BEAMing assay, and NGS strategy)

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

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

Transcriptional regulation of CRMP5 controls neurite outgrowth through Sox5

A genetic landscape of familial predisposition to sarcoidosis identified by whole exome sequencing

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

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

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

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

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

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

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.