Concepedia

Gianfranco Bocchinfuso

GB

Statistics

Publications

60

Citations

3.6K

H-Index

34

Active since

1996

Affiliations

University of Rome Tor Vergata(Current)

Sapienza University of Rome

Istituto Superiore di Sanità

Bambino Gesù Children's Hospital

Istituti di Ricovero e Cura a Carattere Scientifico

Gianfranco Bocchinfuso is an author at University of Rome Tor Vergata specializing in life sciences, genetics, and natural sciences.

ORCID

Publications per year

1996–2023

60

Publications

60

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 · 431 citations · Full text

, , +16

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 · 225 citations · Full text

, , +11

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 218 citations · Full text

, , +10

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

, , +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 · 117 citations · Full text

, , +17

1–5 of 60