Statistics and Modelling for Health Sciences
Bardel-Danjean Claire
Maîtresse de conférences - praticienne hospitalière
UCBL
Publications
Display of 1 to 30 publications on 52 in total
Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio Hifi® Long-Read and Illumina Short-Read Sequencing
Journal of Personalized Medicine . 13 ( 12 ) : 1655
DOI: 10.3390/jpm13121655
Journal article
see the publicationPerformance comparisons between clustering models for reconstructing NGS results from technical replicates
Frontiers in Genetics . 14
Journal article
see the publicationPaired Comparison of Routine Molecular Screening of Patient Samples with Advanced Non-Small Cell Lung Cancer in Circulating Cell-Free DNA Using Three Targeted Assays
Cancers . 15 ( 5 ) : 1574
Journal article
see the publicationFamilial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination
Clinical Genetics . 103 ( 4 ) : 401-412
DOI: 10.1111/cge.14291
Journal article
see the publicationPerformances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies
HemaSphere . 5 ( 2 ) : e522
Journal article
see the publicationComplete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A
Haemophilia . 28 ( 1 ) : 117-124
DOI: 10.1111/hae.14402
Journal article
see the publicationWhole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?
DNA and Cell Biology . 40 ( 3 ) : 491-498
Journal article
see the publicationSequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia
Orphanet Journal of Rare Diseases . 15 ( 1 ) : 254
Journal article
see the publicationChromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis
Acta Neuropathologica Communications . 8 ( 1 ) : 190
Journal article
see the publicationComparison of Nucleic Acid Extraction Methods for a Viral Metagenomics Analysis of Respiratory Viruses
Microorganisms . 8 ( 10 ) : 1539
Journal article
see the publicationImpact of interleukin‐6 on drug transporters and permeability in the hCMEC/D3 blood–brain barrier model
Fundamental & Clinical Pharmacology . 35 ( 2 ) : 397-409
DOI: 10.1111/fcp.12596
Journal article
see the publicationDevelopment of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia
Clinical Genetics . 98 ( 6 ) : 589-594
DOI: 10.1111/cge.13832
Journal article
see the publicationGenome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
Molecular Genetics & Genomic Medicine . 8 ( 3 ) : 1-10
DOI: 10.1002/mgg3.1114
Journal article
see the publicationThe enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
53rd European Society of Human Genetics (ESHG) Conference . 28 ( SUPPL 1 ) : 5-6
Conference paper
see the publicationDevelopment of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia
Clinical Genetics . 98 ( 6 ) : 589-594
DOI: 10.1111/cge.13832
Journal article
see the publicationContribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
The Lancet Rheumatology . 2 ( 2 ) : e99-e109
Journal article
see the publicationSyndrome de Klinefelter, rôle du chromosome Y dans l’espérance de vie humaine ?
36ème Congrès de la Société Française d'Endocrinologie (SFE Marseille 2020) . 81 ( 4 ) : 194
Conference paper
see the publicationPCSK9 post-transcriptional regulation: Role of a 3′UTR microRNA-binding site variant in linkage disequilibrium with c.1420G
Atherosclerosis . 314 : 63-70
Journal article
see the publicationSequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia
Orphanet Journal of Rare Diseases . 15 ( 1 ) : 254
Journal article
see the publicationIn vivo characterisation of the toxicological properties of DPhP, one of the main degradation products of aryl phosphate esters
Environmental Health Perspectives . 128 ( 12 ) : 127006
DOI: 10.1289/EHP6826
Journal article
see the publicationStructure-activity relationship study: Mechanism of cyto-genotoxicity of Nitropyrazole-derived high energy density materials family
Toxicology and Applied Pharmacology . 381 : 114712
Journal article
see the publicationComparison of crossover and parallel‐group designs for the identification of a binary predictive biomarker of the treatment effect
Basic and Clinical Pharmacology and Toxicology . 126 ( 1 ) : 59-64
DOI: 10.1111/bcpt.13293
Journal article
see the publicationImpact of Interleukin-6 on Drug-Metabolizing Enzymes and Transporters in Intestinal Cells
AAPS Journal . 22 ( 1 ) : 16
Journal article
see the publicationWhole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy
Human Mutation . 41 ( 2 ) : 465-475
DOI: 10.1002/humu.23944
Journal article
see the publicationWhole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Journal of Medical Genetics . 56 ( 8 ) : 526-535
Journal article
see the publicationIdentification of mobile retrocopies during genetic testing: Consequences for routine diagnosis
Human Mutation . 40 ( 11 ) : 1993-2000
DOI: 10.1002/humu.23845
Journal article
see the publicationToxicokinetics and tolerance of a high energy material 3,4,5-trinitropyrazole (TNP) in mice
Toxicology and Applied Pharmacology . 355 : 103-111
Journal article
see the publicationSingle, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy
Clinical Genetics . 94 ( 1 ) : 132-140
DOI: 10.1111/cge.13250
Journal article
see the publicationWhat Does This Mutation Mean? The Tools and Pitfalls of Variant Interpretation in Lymphoid Malignancies
International Journal of Molecular Sciences . 19 ( 4 ) : 1251
DOI: 10.3390/ijms19041251
Journal article
see the publicationCross-platform comparison for the detection of RAS mutations in cfDNA (ddPCR Biorad detection assay, BEAMing assay, and NGS strategy)
Oncotarget . 9 ( 30 ) : 21122-21131
Journal article
see the publication