Bardel-Danjean Claire

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-Farnier, Manon Muntaner...

Translational Research, The Journal of Laboratory and Clinical Medicine . 255 : 119-127

DOI: 10.1016/j.trsl.2022.12.002

2023

Journal article

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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 . 14

DOI: 10.3389/fgene.2023.1148147

2023

Journal article

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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, Julie Balandier...

Cancers . 15 ( 5 ) : 1574

DOI: 10.3390/cancers15051574

2023

Journal article

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

Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kevin Uguen...

Clinical Genetics . 103 ( 4 ) : 401-412

DOI: 10.1111/cge.14291

2023

Journal article

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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, Veronique Gautier...

Journal of Personalized Medicine . 13 ( 12 ) : 1655

DOI: 10.3390/jpm13121655

2023

Journal article

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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, Marie‐laure Mathieu...

Haemophilia . 28 ( 1 ) : 117-124

DOI: 10.1111/hae.14402

2021

Journal article

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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, Gilles Millat...

DNA and Cell Biology . 40 ( 3 ) : 491-498

DOI: 10.1089/dna.2020.6305

2021

Journal article

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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, Isabelle Mosnier...

HemaSphere . 5 ( 2 ) : e522

DOI: 10.1097/HS9.0000000000000522

2021

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 Rivière...

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

DOI: 10.1186/s13023-020-01533-2

2020

Journal article

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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, Marylore Chenel...

Fundamental & Clinical Pharmacology . 35 ( 2 ) : 397-409

DOI: 10.1111/fcp.12596

2020

Journal article

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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

Journal article

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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 . 8 ( 3 ) : 1-10

DOI: 10.1002/mgg3.1114

2020

Journal article

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Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis

Hélène Lasolle, Mad-Hélénie Elsensohn, Anne Wierinckx, Eudeline Alix, Clément Bonnefille, Alexandre Vasiljevic...

Acta Neuropathologica Communications . 8 ( 1 ) : 190

DOI: 10.1186/s40478-020-01067-5

2020

Journal article

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

Marina Sabatier, Antonin Bal, Grégory Destras, Hadrien Regue, Grégory Quéromès, Valérie Cheynet...

Microorganisms . 8 ( 10 ) : 1539

DOI: 10.3390/microorganisms8101539

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...

53rd European Society of Human Genetics (ESHG) Conference . 28 ( SUPPL 1 ) : 5-6

DOI: 10.1038/s41431-020-00740-6

2020

Conference paper

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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

Journal article

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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

Journal article

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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 ) : 127006

DOI: 10.1289/EHP6826

2020

Journal article

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Syndrome de Klinefelter, rôle du chromosome Y dans l’espérance de vie humaine ?

Jordan Teoli, Claire Bardel, Marie Fablet, Gabriel Marais, François Gueyffier, Jean-François Lemaître...

36ème Congrès de la Société Française d'Endocrinologie (SFE Marseille 2020) . 81 ( 4 ) : 194

DOI: 10.1016/j.ando.2020.07.150

2020

Conference paper

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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

Journal article

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

Florian Simon, Jessica Garcia, Laetitia Guyot, Jérôme Guitton, Gaelle Vilchez, Claire Bardel...

AAPS Journal . 22 ( 1 ) : 16

DOI: 10.1208/s12248-019-0395-x

2019

Journal article

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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, Philippe Chevalier...

Human Mutation . 41 ( 2 ) : 465-475

DOI: 10.1002/humu.23944

2019

Journal article

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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, Claire Bardel...

Toxicology and Applied Pharmacology . 381 : 114712

DOI: 10.1016/j.taap.2019.114712

2019

Journal article

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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 . 126 ( 1 ) : 59-64

DOI: 10.1111/bcpt.13293

2019

Journal article

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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-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

Journal article

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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

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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

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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, Patrick Merle...

Oncotarget . 9 ( 30 ) : 21122-21131

DOI: 10.18632/oncotarget.24950

2018

Journal article

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Publications

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

Performance comparisons between clustering models for reconstructing NGS results from technical replicates

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

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

Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio Hifi® Long-Read and Illumina Short-Read Sequencing

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A

Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?

Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies

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

Impact of interleukin‐6 on drug transporters and permeability in the hCMEC/D3 blood–brain barrier model

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

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

Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis

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

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

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

Syndrome de Klinefelter, rôle du chromosome Y dans l’espérance de vie humaine ?

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

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

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy

Structure-activity relationship study: Mechanism of cyto-genotoxicity of Nitropyrazole-derived high energy density materials family

Comparison of crossover and parallel‐group designs for the identification of a binary predictive biomarker of the treatment effect

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

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)