Giovanni Battista Ferrero

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

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio et al. · Nature Genetics · 2009 · 417 citations · Full text

Life Sciences, Genetics, Molecular Biology +9

X-linked situs abnormalities result from mutations in ZIC3

Marinella Gebbia, Giovanni Battista Ferrero, Giuseppe Pilia et al. · Nature Genetics · 1997 · 416 citations

Life Sciences, Genetics, Molecular Genetics +7

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Angela Sparago, Flavia Cerrato, Maria Vernucci et al. · Nature Genetics · 2004 · 366 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini et al. · Journal of Medical Genetics · 2007 · 357 citations · Full text

Life Sciences, Genetics, Cytogenetics +16