Angelo Selicorni

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit, Anna Sárközy, L Pennacchio et al. · Nature Genetics · 2007 · 694 citations

Cardiomyopathy, Mendelian Disorder, Genetic Disorder +6

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli et al. · Nature Genetics · 2006 · 476 citations

Mendelian Disorder, Genetic Disorder, Pathology +5

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 · 410 citations · Full text

Noonan-like Syndrome, Loose Anagen Hair, Genetics +3

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Katrina Tatton‐Brown, Sheila Seal, Elise Ruark et al. · Nature Genetics · 2014 · 349 citations · Full text

Down Syndrome, Chromatin, Developmental Biology +11

Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Maria Immacolata Ferrante, Sally Feather, Alessandro Bulfone et al. · The American Journal of Human Genetics · 2001 · 348 citations · Full text

Genetic Disorder, Oral Cavity, Genetics +5