Céline Dupont
Hôpital Robert-Debré(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations
Most-Cited Works
- → Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies(2015)311 cited
- → Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis(1999)199 cited
- → Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases(2013)134 cited
- → 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?(2008)88 cited
- → Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders(2019)82 cited
- → A framework to identify contributing genes in patients with Phelan-McDermid syndrome(2017)79 cited
- → Structural chromosomal mosaicism and prenatal diagnosis(2004)74 cited
- → First cryptic balanced reciprocal translocation mosaicism and familial transmission(2008)72 cited
- → Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder(2015)70 cited
- → Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1(2014)67 cited