Lisa Pavinato

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews et al. · Cell Reports · 2022 · 52 citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría et al. · Brain · 2021 · 50 citations · Full text

Life Sciences, Genetics, Neuroscience +17

<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

Lisa Pavinato, Andrea Delle Vedove, Diana Carli et al. · Brain · 2022 · 38 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

Jack Fu, F. Kyle Satterstrom, Minshi Peng et al. · medRxiv · 2021 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

Chiara Giovenino, Slavica Trajkova, Lisa Pavinato et al. · European Journal of Human Genetics · 2023 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15