Adeline Jacquinet
University of Liège(BE)Center for Human Genetics(US)Centre Hospitalier Universitaire de Liège(BE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Connective tissue disorders research, Renal and related cancers
Most-Cited Works
- → Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy(2014)157 cited
- → Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly(2017)112 cited
- → Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature(2013)104 cited
- → SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation(2020)93 cited
- → ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects(2016)84 cited
- → GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome(2020)71 cited