Concepedia

Simone Martinelli

SM

Statistics

Publications

47

Citations

4.5K

H-Index

31

Active since

1998

Affiliations

Istituto Superiore di Sanità(Current)

Bambino Gesù Children's Hospital

Sapienza University of Rome

Icahn School of Medicine at Mount Sinai

Istituti di Ricovero e Cura a Carattere Scientifico

Simone Martinelli is an author at Istituto Superiore di Sanità specializing in life sciences, genetics, and genetic disorders.

ORCID

Publications per year

1998–2025

47

Publications

47

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

Bhaswati Pandit, Anna Sárközy, L Pennacchio et al. · Nature Genetics · 2007 · 702 citations

, , +9

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

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 · 417 citations · Full text

, , +9

Somatically acquired <i>JAK1</i> mutations in adult acute lymphoblastic leukemia

Elisabetta Flex, Valentina Petrangeli, Lorenzo Stella et al. · The Journal of Experimental Medicine · 2008 · 327 citations · Full text

, , +15

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Simone Martinelli, Alessandro De Luca, Emilia Stellacci et al. · The American Journal of Human Genetics · 2010 · 259 citations · Full text

, , +14

1–5 of 47