Sylvia Redon
Inserm(FR)Université de Bretagne Occidentale(FR)École nationale d'ingénieurs de Brest(FR)Centre Hospitalier Régional Universitaire de Brest(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Autism Spectrum Disorder Research
Most-Cited Works
- → Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients(2012)176 cited
- → Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior(2021)83 cited
- → Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability(2019)52 cited
- → Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France(2019)43 cited
- → A small de novo 16q24.1 duplication in a woman with severe clinical features(2013)42 cited
- → High-Throughput Analysis of Promoter Occupancy Reveals New Targets for Arx, a Gene Mutated in Mental Retardation and Interneuronopathies(2011)