Concepedia

M. Cristina Digilio

MC

Statistics

Publications

161

Citations

10.6K

H-Index

57

Active since

1992

Affiliations

Bambino Gesù Children's Hospital(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Sapienza University of Rome

Casa Sollievo della Sofferenza

Università Cattolica del Sacro Cuore

M. Cristina Digilio is an author at Bambino Gesù Children's Hospital specializing in genetics, human genetics, and medical genetics.

ORCID

Publications per year

1992–2024

161

Publications

161

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

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

M. Cristina Digilio, Emanuela Conti, Anna Sárközy et al. · The American Journal of Human Genetics · 2002 · 422 citations · Full text

, , +9

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

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Damien Lederer, Bernard Grisart, M. Cristina Digilio et al. · The American Journal of Human Genetics · 2011 · 379 citations · Full text

, , +17

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

1–5 of 161