
Statistics and Modelling for Health Sciences
Bardel-Danjean Claire
Maîtresse de conférences - praticienne hospitalière
UCBL
Publications
Display of 1 to 29 publications on 29 in total
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
Molecular Genetics & Genomic Medicine . : 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 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 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 publicationIn vivo characterisation of the toxicological properties of DPhP, one of the main degradation products of aryl phosphate esters
Environmental Health Perspectives . 128 ( 12 )
DOI: 10.1289/EHP6826
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 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 publicationWhole exome sequencing in three families segregating a pediatric case of sarcoidosis
BMC Medical Genomics . 11 ( 1 ) : 23
Journal article
see the publicationA genetic landscape of familial predisposition to sarcoidosis identified by whole exome sequencing
European Respiratory Society (ERS) Congress, .
Conference paper
see the publicationStrong incidence of pseudomonas aeruginosa on bacterial rrs and ITS genetic structures of cystic fibrosis sputa
PLoS ONE . 12 ( 3 ) : 1-19
Journal article
see the publicationFamilial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort
Orphanet Journal of Rare Diseases . 11 ( 1 ) : np
Journal article
see the publicationAn original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
Breast Cancer Research . 17 : 61
Journal article
see the publicationComparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA
Applied & Translational Genomics . 7 : 19-25
Journal article
see the publicationCSF IgA NMDAR antibodies are potential biomarkers for teratomas in anti-NMDAR encephalitis
Neurology Neuroimmunology & Neuroinflammation . 2 ( 6 ) : e166
Journal article
see the publicationThe alpha-globin genotype does not influence sickle cell disease severity in a retrospective cross-validation study of the pediatric severity score
European Journal of Haematology . 88 : 61-67
Journal article
see the publicationSolid lipid nanoparticles suspension versus commercial solutions for dermal delivery of minoxidil
International Journal of Pharmaceutics . 416 ( 1 ) : 300 - 304
Journal article
see the publicationSolid lipid nanoparticles suspension versus commercial solutions for dermal delivery of minoxidil
International Journal of Pharmaceutics . 416 : 300-304
Journal article
see the publicationThe XmnI Gγ polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57β-thalassemia intermedia patients
Blood Cells, Molecules and Diseases . 45 : 124-127
Journal article
see the publicationA genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes
Progress in Neuro-Psychopharmacology and Biological Psychiatry . 34 : 492-499
Journal article
see the publicationOn the Use of Phylogeny-Based Tests to Detect Association between Quantitative Traits and Haplotypes
Genetic Epidemiology . 33 ( 8 ) : 729-739
DOI: 10.1002/gepi.20425
Journal article
see the publicationData Mining, Neural Nets, Trees \textemdash Problems 2 and 3 of Genetic Analysis Workshop 15
Genetic Epidemiology . 31 : S51--S60
Journal article
see the publicationEfficiency of multiple imputation to test for association in the presence of missing data.
BMC Proceedings . 1 Suppl 1 ( Suppl 1 ) : S24
Journal article
see the publicationDealing with missing phase and missing data in phylogeny-based analysis.
BMC Proceedings . 1 Suppl 1 ( 1 ) : S22
Journal article
see the publicationData Mining Neural Nets Trees -- Problems 2 and 3 of Genetic Analysis Workshop 15
Genetic Epidemiology . 31 : S51-S60
Journal article
see the publicationOn the use of haplotype phylogeny to detect disease susceptibility loci.
BMC Genetics . 6 : 24
Journal article
see the publication