Silvio Alessandro Di Gioia

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

Mathieu Quinodoz, Béryl Royer‐Bertrand, Katarina Cisarova et al. · The American Journal of Human Genetics · 2017 · 131 citations · Full text

Genome-wide Association Study, Functional Genomics, Genetics +11

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami et al. · Nature Communications · 2017 · 106 citations · Full text

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

Jong G. Park, Max A. Tischfield, Alicia Nugent et al. · The American Journal of Human Genetics · 2016 · 89 citations · Full text

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome

Silvio Alessandro Di Gioia, Nicola Bedoni, Annette von Scheven-Gête et al. · Scientific Reports · 2015 · 88 citations · Full text

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

Thomas Langmann, Silvio Alessandro Di Gioia, Isabella Rau et al. · The American Journal of Human Genetics · 2010 · 83 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +5