Concepedia

Mirella Vinci

MV

Statistics

Publications

18

Citations

1.1K

H-Index

13

Active since

1995

Affiliations

Oasi Maria SS(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

University of Catania

University of Palermo

University of Washington

Mirella Vinci is an author at Oasi Maria SS specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

1995–2024

18

Publications

18

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 · 580 citations · Full text

, , +16

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang et al. · Nature Neuroscience · 2017 · 181 citations · Full text

, , +16

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 · 59 citations · Full text

, , +16

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

, , +17

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

, , +17

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