Franco Stanzial

Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sárközy, Claudio Carta, Sonia Moretti et al. · Human Mutation · 2009 · 305 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Susanne Kohl, Ditta Zobor, Wei‐Chieh Chiang et al. · Nature Genetics · 2015 · 216 citations

Life Sciences, Genetics, Neuroscience +14

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Francesca Romana Lepri, Alessandro De Luca, Lorenzo Stella et al. · Human Mutation · 2011 · 132 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Susanne Roosing, Matan Hofree, Sehyun Kim et al. · eLife · 2015 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome

Daniela Gasparotto, Sabrina Rossi, Maurizio Polano et al. · Clinical Cancer Research · 2016 · 90 citations

Medicine, Oncology, Pathology +17