Claire Bénéteau
Centre Hospitalier Universitaire de Bordeaux(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants(2018)220 cited
- → RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6(2018)193 cited
- → Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway(2019)176 cited
- → Delineation of 15q13.3 microdeletions(2010)150 cited
- → Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients(2019)113 cited
- → Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects(2013)109 cited
- → Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures(2012)103 cited
- → Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine(2022)85 cited
- → A framework to identify contributing genes in patients with Phelan-McDermid syndrome(2017)79 cited
- → Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study(2017)66 cited