Mirella Vinci
Oasi Maria SS(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epigenetics and DNA Methylation, Genomic variations and chromosomal abnormalities, Congenital heart defects research
Most-Cited Works
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains(2017)179 cited
- → A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency(2017)57 cited
- → A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy(2020)35 cited
- → Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder(2019)29 cited
- → The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant(2018)27 cited