Bardel-Danjean Claire

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

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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

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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

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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

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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

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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

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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

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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

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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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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 )

DOI: 10.1002/mgg3.1114

2020

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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, Jessica Garcia...

Environmental Health Perspectives . 128 ( 12 )

DOI: 10.1289/EHP6826

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

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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

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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

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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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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

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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

Acte de congrès

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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

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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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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

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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

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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

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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

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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

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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

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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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Publications

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

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

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

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

In Vivo Characterization of the Toxicological Properties of DPhP, One of the Main Degradation Products of Aryl Phosphate Esters

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

Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis

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

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

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

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

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

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