Silvio Alessandro Di Gioia

机构：Broad Institute, Boston Children's Hospital, Harvard University, Regeneron (United States) · ORCID：0000-0002-7235-5682

发表论文 38 篇 · 总被引 1009 次 · h-index 17

代表论文

• DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders (2017 · The American Journal of Human Genetics · 被引 139)
• A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome (2017 · Nature Communications · 被引 112)
• Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects (2016 · The American Journal of Human Genetics · 被引 97)
• The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene (2019 · Genetics in Medicine · 被引 52)
• Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis (2023 · Nature Genetics · 被引 38)
• Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy (2015 · Scientific Reports · 被引 27)