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Current Opinion in Pediatrics|July 20, 2018
Cardiovascular disease in Noonan syndromeMary Ella Pierpont, Maria Cristina DigilioEuropean Journal of Human Genetics : EJHG|October 8, 2009
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Laura Bernardini, Viola Alesi, Sara Loddo, et al.American Journal of Medical Genetics. Part A|March 5, 2015
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrumValentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, et al.European Journal of Medical Genetics|December 11, 2012
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosisMaria Cecilia D'Asdia, Isabella Torrente, Federica Consoli, et al.American Journal of Medical Genetics. Part A|February 5, 2008
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndromeGiuseppe Limongelli, Anna Sarkozy, Giuseppe Pacileo, et al.American Journal of Medical Genetics. Part A|September 9, 2017
Congenital heart defects in molecularly proven Kabuki syndrome patientsMaria Cristina Digilio, Maria Gnazzo, Francesca Lepri, et al.International Journal of Cardiology|September 4, 2007
Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and managementGiuseppe Limongelli, Giuseppe Pacileo, Maria Cristina Digilio, et al.Human Mutation|October 1, 2003
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of FallotAntonio Pizzuti, Anna Sarkozy, Anthea L Newton, et al.Current Opinion in Insect Science|August 28, 2020
Host regulation and nutritional exploitation by parasitic waspsFrancesco Pennacchio, Silvia Caccia, Maria Cristina DigilioBMC Pediatrics|March 14, 2020
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature reviewMarcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, et al.Pageof 53