Dario Cocciadiferro

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman et al. · The American Journal of Human Genetics · 2016 · 80 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients

Antonio Novelli, Michela Biancolella, Paola Borgiani et al. · Human Genomics · 2020 · 79 citations · Full text

Dissecting KMT2D missense mutations in Kabuki syndrome patients

Dario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis et al. · Human Molecular Genetics · 2018 · 70 citations · Full text

Kmt2d Missense Mutations, Developmental Biology, Mendelian Disorder +11

Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality

Alessandra Zito, Marta Lualdi, Paola Granata et al. · Frontiers in Genetics · 2021 · 60 citations · Full text

<i>COL1</i> ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Silvia Morlino, Lucia Micale, Marco Ritelli et al. · Clinical Genetics · 2019 · 55 citations