Associated Papers
Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.
Tao K et al.
Cancer Science, 2026
Comparison of somatic variant oncogenicity classification using ClinGen/CGC/VICC guidelines and QIAGEN Clinical Insight Interpret decision support software.
Goverdhan A et al.
Cancer Genetics, 2025
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Ghezelayagh TS et al.
Cancer Research Communications, 2022
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Horak P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Dimorphic glioblastoma with glial and epithelioid phenotypes: Clonal evolution and immune selection.
Mondia MWL et al.
Frontiers in Neurology, 2022
A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.
Pappula AL et al.
Cancers, 2021
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.
Kaymakcalan H et al.
Molecular Genetics & Genomic Medicine, 2021
Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.
Choi SW et al.
Cell Death & Disease, 2021
Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.
Zivanovic Bujak A et al.
Plos Medicine, 2020
Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.
Sakthikumar S et al.
Genome Biology, 2020
Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.
Li H et al.
Frontiers in Oncology, 2020
Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.
Xiu J et al.
Oncotarget, 2016