Giovanni Castegnaro

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

Tommaso Pippucci, Anna Savoia, Silverio Perrotta et al. · The American Journal of Human Genetics · 2011 · 220 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

Caterina Garone, Tommaso Pippucci, Duccio Maria Cordelli et al. · Developmental Medicine & Child Neurology · 2011 · 43 citations

Life Sciences, Genetics, Neurology +17

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24

Alessia Deglincerti, Roberto De Giorgio, Kıvanç Çefle et al. · European Journal of Human Genetics · 2007 · 38 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11–q13.31

Francesca Bisulli, Ilaria Naldi, Sara Baldassari et al. · Epilepsia · 2014 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15