Lidia Larizza

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

C-kit mutations in core binding factor leukemias

Alessandro Beghini, Paolo Peterlongo, Carla B. Ripamonti et al. · Blood · 2000 · 299 citations · Full text

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna et al. · The American Journal of Human Genetics · 2010 · 234 citations · Full text

Syndromic Autism, Genetic Disorder, Genetics +8

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Jet Bliek, Gaetano Verde, Jonathan L A Callaway et al. · European Journal of Human Genetics · 2008 · 232 citations · Full text

Developmental Biology, Genetic Disorder, Epigenetic Change +7

Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa

Alessandro Beghini, MariaGrazia Tibiletti, Gaia Roversi et al. · Cancer · 2001 · 219 citations · Full text