Marine Lebrun
Centre Hospitalier Universitaire de Saint-Étienne(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Genomic variations and chromosomal abnormalities, Genetic factors in colorectal cancer
Most-Cited Works
- → Delineating the GRIN1 phenotypic spectrum(2016)202 cited
- → BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells(2018)132 cited
- → Supernumerary marker chromosomes management in prenatal diagnosis(2008)85 cited
- → Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders(2019)82 cited
- → Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1(2017)68 cited
- → Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases(2015)61 cited
- → The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype(2015)58 cited
- → Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?(2019)17 cited
- → Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk(2015)17 cited
- → Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer(2021)12 cited