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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
Article dans une revue
hal-04382909
v1
|
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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
et al.
Article dans une revue
hal-04382969
v1
|
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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
et al.
Article dans une revue
hal-04382917
v1
|
|
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
et al.
Article dans une revue
hal-04382767
v1
|
|
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
et al.
Article dans une revue
hal-04172500
v1
|
|
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
et al.
Article dans une revue
hal-04382997
v1
|
|
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
et al.
Article dans une revue
hal-04382986
v1
|
|
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
et al.
Article dans une revue
hal-04382990
v1
|
|
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
et al.
Article dans une revue
hal-04383035
v1
|
|
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
et al.
Article dans une revue
hal-03153055
v1
|
|
Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis
Hélène Lasolle
,
Mad-Hélénie Elsensohn
,
Anne Wierinckx
,
Eudeline Alix
,
Clément Bonnefille
et al.
Article dans une revue
hal-04383012
v1
|
|
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
et al.
Article dans une revue
hal-03152577
v1
|
|
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
et al.
Article dans une revue
hal-03013621
v1
|
|
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
et al.
Article dans une revue
hal-04383017
v1
|
|
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
et al.
Article dans une revue
hal-03985098
v1
|
|
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
et al.
Article dans une revue
hal-04383042
v1
|
|
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
et al.
Article dans une revue
hal-02867795
v1
|
|
Comparison of Nucleic Acid Extraction Methods for a Viral Metagenomics Analysis of Respiratory Viruses
Marina Sabatier
,
Antonin Bal
,
Grégory Destras
,
Hadrien Regue
,
Grégory Quéromès
et al.
Article dans une revue
hal-04383021
v1
|
|
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
et al.
Article dans une revue
hal-03104655
v1
|
|
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
et al.
Article dans une revue
hal-04383056
v1
|
|
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
et al.
Article dans une revue
hal-04383061
v1
|
|
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
et al.
Article dans une revue
hal-03863519
v1
|
|
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
Article dans une revue
hal-04383067
v1
|
|
Impact of Interleukin-6 on Drug-Metabolizing Enzymes and Transporters in Intestinal Cells
Florian Simon
,
Jessica Garcia
,
Laetitia Guyot
,
Jérôme Guitton
,
Gaelle Vilchez
et al.
Article dans une revue
hal-04383050
v1
|
|
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis
Nicolas Chatron
,
Kevin Cassinari
,
Olivier Quenez
,
Stéphanie Baert‐desurmont
,
Claire Bardel
et al.
Article dans une revue
hal-02339267
v1
|
|
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
et al.
Article dans une revue
hal-04383081
v1
|
|
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
et al.
Article dans une revue
hal-04383093
v1
|
|
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
et al.
Article dans une revue
hal-01847509
v1
|
|
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
et al.
Article dans une revue
hal-04383088
v1
|
|
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis
Alain Calender
,
Pierre Antoine Rollat Farnier
,
Adrien Buisson
,
Stéphane Pinson
,
Abderrazzaq Bentaher
et al.
Article dans une revue
hal-04383104
v1
|
|
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis
Alain Calender
,
Pierre Antoine Rollat Farnier
,
Adrien Buisson
,
Stéphane Pinson
,
Abderrazzaq Bentaher
et al.
Article dans une revue
inserm-01728520
v1
|
|
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
et al.
Article dans une revue
hal-04383098
v1
|
|
Centralization errors in comparative genomic hybridization array analysis of pituitary tumor samples
Hélène Lasolle
,
Eudeline Alix
,
Clément Bonnefille
,
Mad‐hélénie Elsensohn
,
Jessica Michel
et al.
Article dans une revue
hal-04383109
v1
|
|
Transcriptional regulation of CRMP5 controls neurite outgrowth through Sox5
Nicolas Naudet
,
Aubin Moutal
,
Hong Nhung Vu
,
Naura Chounlamountri
,
Chantal Watrin
et al.
Article dans une revue
hal-04383114
v1
|
|
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
et al.
Article dans une revue
hal-01606726
v1
|
|
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
et al.
Article dans une revue
hal-01595465
v1
|
|
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
et al.
Article dans une revue
hal-02044950
v1
|
|
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
et al.
Article dans une revue
hal-02071165
v1
|
|
CSF IgA NMDAR antibodies are potential biomarkers for teratomas in anti-NMDAR encephalitis
V. Desestret
,
A. Chefdeville
,
A. Viaccoz
,
C. Bost
,
F. Ducray
et al.
Article dans une revue
hal-02044951
v1
|
|
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
Article dans une revue
hal-00697964
v1
|
|
Solid lipid nanoparticles suspension versus commercial solutions for dermal delivery of minoxidil
Karine Padois
,
Celine Cantieni
,
Valerie Bertholle
,
Claire Bardel
,
Fabrice Pirot
et al.
Article dans une revue
istex
hal-02646927
v1
|
|
Solid lipid nanoparticles suspension versus commercial solutions for dermal delivery of minoxidil
K. Padois
,
C. Cantiéni
,
V. Bertholle
,
C. Bardel
,
F. Pirot
et al.
International Journal of Pharmaceutics, 2011, 416, pp.300-304
Article dans une revue
hal-00698108
v1
|
|
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
et al.
Blood Cells, Molecules and Diseases, 2010, 45, pp.124-127
Article dans une revue
hal-00698087
v1
|
|
A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes
C. Dubertret
,
C. Bardel
,
N. Ramoz
,
P-M. Martin
,
J-C. Deybach
et al.
Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2010, 34, pp.492-499
Article dans une revue
hal-00698440
v1
|
|
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
Article dans une revue
istex
hal-00800411
v1
|
|
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
et al.
Genetic Epidemiology, 2007, 31, pp.S51--S60
Article dans une revue
hal-01887878
v1
|
|
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
Article dans une revue
inserm-00143688
v1
|
|
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
Article dans une revue
inserm-00284150
v1
|
|
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
et al.
Genetic Epidemiology, 2007, 31, pp.S51-S60
Article dans une revue
hal-00698356
v1
|
|
On the use of haplotype phylogeny to detect disease susceptibility loci.
Claire Bardel
,
Vincent Danjean
,
Jean-Pierre Hugot
,
Pierre Darlu
,
Emmanuelle Génin
Article dans une revue
inserm-00090521
v1
|