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Works
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PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients
Rett syndrome: the complex nature of a monogenic disease
AAV-mediated FOXG1 gene editing in human Rett primary cells
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
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses
