C. Vincent‐Delorme
Inserm(FR)Université de Bourgogne(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Cleft Lip and Palate Research
Most-Cited Works
- → A new highly penetrant form of obesity due to deletions on chromosome 16p11.2(2010)557 cited
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases(2018)82 cited
- → A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features(2011)57 cited
- → <i>IRF6</i> Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign(2010)29 cited
- → Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey(2015)14 cited
- → Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting(2023)9 cited
- → Prenatal diagnosis of metatropic dwarfism(1995)9 cited
- → Abstracts from the 50th European Society of Human Genetics Conference: Posters(2018)3 cited
- → Triple anneau d’hyperautofluorescence rétinienne. Aspect pathognomonique d’une dystrophie rétinienne liée à la mutation c.166G>A dans le gène NR2E3(2019)2 cited