Concepedia

Claudio Carta

CC

Statistics

Publications

28

Citations

3.3K

H-Index

24

Active since

1999

Affiliations

Istituto Superiore di Sanità(Current)

Università Cattolica del Sacro Cuore

Icahn School of Medicine at Mount Sinai

Bambino Gesù Children's Hospital

Sapienza University of Rome

Claudio Carta is an author at Istituto Superiore di Sanità specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1999–2023

28

Publications

28

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

A restricted spectrum of NRAS mutations causes Noonan syndrome

Ion Cristian Cirstea, Kerstin Kutsche, Radovan Dvorský et al. · Nature Genetics · 2009 · 317 citations · Full text

, , +7

Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sárközy, Claudio Carta, Sonia Moretti et al. · Human Mutation · 2009 · 305 citations

, , +17

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

Recommendations for Improving the Quality of Rare Disease Registries

Yllka Kodra, Jérôme Weinbach, Manuel Posada de la Paz et al. · International Journal of Environmental Research and Public Health · 2018 · 199 citations · Full text

, , +15

1–5 of 28