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Clinical Genetics|July 17, 2023
Congenital heart defects in CTNNB1 syndrome: Raising clinical awarenessLorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, et al.Genes|September 7, 2019
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart DiseaseValentina Pinna, Paola Daniele, Giulio Calcagni, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorderAlessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.Nature Genetics|December 5, 2006
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeMarco Tartaglia, Len A Pennacchio, Chen Zhao, et al.European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.Clinical Genetics|December 8, 2025
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 DeletionsTanner J Nelson, Daniel E McGinn, T Blaine Crowley, et al.American Journal of Medical Genetics. Part A|February 24, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndromeAngela E Lin, Mark E Alexander, Steven D Colan, et al.Data in Brief|March 16, 2018
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study resultsGiulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, et al.Genes|November 24, 2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 VariantsMarco Ferilli, Andrea Ciolfi, Lucia Pedace, et al.Pageof 56