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Rett syndrome: the complex nature of a monogenic disease
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance
FOXG1 is responsible for the congenital variant of Rett syndrome
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients
"Omic" Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma
