Mirella Vinci

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 558 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetics +13

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang et al. · Nature Neuroscience · 2017 · 176 citations · Full text

Neurodevelopmental Disorders, Neurodevelopmental Disorder Genes, Functional Domains +12

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Sandra Jansen, Alexander Hoischen, Bradley P. Coe et al. · European Journal of Human Genetics · 2017 · 55 citations · Full text

Down Syndrome, Metabolic Syndrome, Obesity +12

A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

Luigi Vetri, Mirella Vinci, Carmelo Amato et al. · European Journal of Medical Genetics · 2020 · 35 citations

Heterozygous Mutation, Epileptic Encephalopathy, Genetic Disorder +9

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

Carmela Scuderi, Lucia Saccuzzo, Mirella Vinci et al. · European Journal of Human Genetics · 2019 · 29 citations · Full text

Developmental Biology, Biallelic Intragenic Duplication, Mendelian Disorder +7