Elisa Giorgio

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang et al. · Cell · 2020 · 2.5K citations · Full text

Medicine, Genetics, Neurobiology +17

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Elisa Giorgio, Daniel Robyr, Malte Spielmann et al. · Human Molecular Genetics · 2015 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio et al. · The American Journal of Human Genetics · 2014 · 122 citations · Full text

Life Sciences, Genetics, Neurology +10

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni et al. · Clinical Genetics · 2017 · 88 citations

Life Sciences, Genetics, Molecular Genetics +17

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2018 · 62 citations

Medicine, Genetics, Neurobiology +17