D-Index & Metrics Best Publications

Maria Cristina Digilio

University of Naples Federico II
Italy

Biology and Biochemistry

Italy

2023

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Biology and Biochemistry D-index 73 Citations 15,707 372 World Ranking 3793 National Ranking 79

Research.com Recognitions

Awards & Achievements

2023 - Research.com Biology and Biochemistry in Italy Leader Award

Best Publications

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

Bhaswati Pandit;Anna Sarkozy;Len A Pennacchio;Claudio Carta.
Nature Genetics (2007)

704 Citations

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Anne S Bassett;Donna M McDonald-McGinn;Koenraad Devriendt;Maria Cristina Digilio.
The Journal of Pediatrics (2011)

585 Citations

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Maria Cristina Digilio;Emanuela Conti;Anna Sarkozy;Rita Mingarelli.
American Journal of Human Genetics (2002)

441 Citations

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu;Elia Di Schiavi;Len A. Pennacchio;Len A. Pennacchio;Avi Ma’ayan.
Nature Genetics (2009)

411 Citations

Germline BRAF mutations in noonan, LEOPARD, and cardiofaciocutaneous Syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sarkozy;Claudio Carta;Sonia Moretti;Giuseppe Zampino.
Human Mutation (2009)

313 Citations

Leopard syndrome

Anna Sarkozy;Maria Cristina Digilio;Bruno Dallapiccola.
(2008)

280 Citations

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

Damien Lederer;Bernard Grisart;Maria Cristina Digilio;Valérie Benoit.
American Journal of Human Genetics (2012)

270 Citations

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal☆☆☆

Bruno Marino;Maria Cristina Digilio;Alessandra Toscano;Aldo Giannotti.
The Journal of Pediatrics (1999)

248 Citations

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

Simone Martinelli;Alessandro De Luca;Emilia Stellacci;Cesare Rossi.
American Journal of Human Genetics (2010)

245 Citations

Do interactions between plant roots and the rhizosphere affect parasitoid behaviour

Emilio Guerrieri;Guido Lingua;Maria Cristina Digilio;Nadia Massa.
Ecological Entomology (2004)

226 Citations

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Frequent Co-Authors

External Links

Personal Website for Maria Cristina Digilio