Associated Papers
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Folliculin (FLCN) in Thyroid Tumors: Incidence, Significance, and Role as a Driver Gene and Secondary Alteration.
Hassan FA et al.
Current Oncology (toronto, Ont.), 2025
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome.
Hartsough E et al.
American Journal of Clinical Pathology, 2024
Tumor characteristics of dissociated response to immune checkpoint inhibition in advanced melanoma.
Versluis JM et al.
Cancer Immunology, Immunotherapy : Cii, 2024
Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild-type primary glioblastoma.
Nam Y et al.
Genome Medicine, 2023
A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data.
Kontogianni G et al.
Cancers, 2023
Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants.
Torices L et al.
Plos One, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
A Targeted Next-Generation Sequencing Panel to Genotype Gliomas.
Guarnaccia M et al.
Life (basel, Switzerland), 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.
Georgoulias G et al.
Frontiers in Immunology, 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
Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.
Song Z et al.
Cell Death & Disease, 2021
Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.
Choi SW et al.
Cell Death & Disease, 2021
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Application of Cluster Analysis of Time Evolution for Magnetic Resonance Imaging -Derived Oxygen Extraction Fraction Mapping: A Promising Strategy for the Genetic Profile Prediction and Grading of Glioma.
Shen N et al.
Frontiers in Neuroscience, 2021
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG et al.
Nature, 2020
Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.
Akahane T et al.
Bmc Medical Genomics, 2020
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.
Niyomnaitham S et al.
Peerj, 2019
EGFR feedback-inhibition by Ran-binding protein 6 is disrupted in cancer.
Oldrini B et al.
Nature Communications, 2017
Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.
Chou WC et al.
International Journal of Biological Sciences, 2016
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.
Busa T et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
High accuracy mutation detection in leukemia on a selected panel of cancer genes.
Kalender Atak Z et al.
Plos One, 2012
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski R et al.
Journal of Medical Genetics, 2011