Fabienne Prieur
Hôpital Nord(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genomics and Rare Diseases, Congenital heart defects research
Most-Cited Works
- → A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia(2010)195 cited
- → Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy(2010)162 cited
- → A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect(2016)101 cited
- → Isodicentric Yp: prenatal diagnosis and outcome in 12 cases(2006)94 cited
- → Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study(2018)91 cited
- → Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome(2016)85 cited
- → Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders(2019)82 cited
- → Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway(2016)74 cited
- → A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels(2015)73 cited
- → Molecular characterization of a cohort of 73 patients with infantile spasms syndrome(2014)71 cited