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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
Investigation of modifier genes within copy number variations in Rett syndrome
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
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma
