Agnès Guichet
Centre National de la Recherche Scientifique(FR)Inserm(FR)Centre Hospitalier Universitaire d'Angers(FR)Génétique Médicale & Génomique Fonctionelle(FR)Université d'Angers(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, RNA modifications and cancer
Most-Cited Works
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations(2009)220 cited
- → OPA1 R445H mutation in optic atrophy associated with sensorineural deafness(2005)167 cited
- → Treacher Collins syndrome: a clinical and molecular study based on a large series of patients(2015)160 cited
- → Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease(2007)155 cited
- → Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis(2006)150 cited