Gianfranco Bocchinfuso

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Marco Tartaglia, Simone Martinelli, Lorenzo Stella et al. · The American Journal of Human Genetics · 2006 · 420 citations · Full text

Somatic Variant, Genetic Disorder, Genetics +9

Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso et al. · The American Journal of Human Genetics · 2006 · 224 citations · Full text

Allelic Variant, Mendelian Disorder, Genetic Disorder +6

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 214 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +6

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni et al. · Human Molecular Genetics · 2014 · 142 citations · Full text

Engineering, Genetics, Pathology +17

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Marcello Niceta, Emilia Stellacci, Karen W. Gripp et al. · The American Journal of Human Genetics · 2015 · 113 citations · Full text