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European Journal of Human Genetics : EJHG|January 22, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsMaria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A|August 5, 2011
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1Maria Cristina Digilio, Laura Bernardini, Francesca Lepri, et al.
Heart (British Cardiac Society)|November 26, 2009
Familial transposition of the great arteries caused by multiple mutations in laterality genesAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.
Orphanet Journal of Rare Diseases|July 7, 2019
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutationsGiulio Calcagni, Maria Cristina Digilio, Bruno Marino, et al.
European Journal of Human Genetics : EJHG|July 12, 2012
Atrioventricular canal defect in patients with RASopathiesMaria Cristina Digilio, Francesca Romana Lepri, Maria Lisa Dentici, et al.
Journal of Proteomics|May 1, 2016
Foodomics as part of the host-microbiota-exposome interplayLorenza Putignani, Bruno Dallapiccola
Audiology Research|December 22, 2023
Robert J. Gorlin: Personal Memory of a Friend and Mentor in Clinical GeneticsBruno Dallapiccola, Rita Mingarelli
Pediatrics|June 6, 2012
Genetics of pediatric obesityMelania Manco, Bruno Dallapiccola
International Journal of Cardiology|July 26, 2018
Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experienceAnwar Baban, Nicoletta Cantarutti, Rachele Adorisio, et al.
BMC Medical Genetics|January 24, 2014
Diagnosis of Noonan syndrome and related disorders using target next generation sequencingFrancesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, et al.
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