Anne Faudet
Sorbonne Université(FR)Assistance Publique – Hôpitaux de Paris(FR)Pitié-Salpêtrière Hospital(FR)Hôpitaux Universitaires de Strasbourg(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Fetal and Pediatric Neurological Disorders, Prenatal Screening and Diagnostics
Most-Cited Works
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → Long-term outcome of presymptomatic testing in Huntington disease(2008)110 cited
- → Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE(2012)109 cited
- → Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance(2017)96 cited
- → Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders(2013)69 cited
- → Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation(2020)52 cited