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A scalable approach to resolving variants of uncertain significance.
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Molecular and Clinicopathological Profiling of Clear Cell Renal Cell Carcinoma with Rhabdoid Features: An Integrative Pathway-Based Stratification Approach.
Lu Z et al.
Cancers, 2025
40940841 (PubMed )
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O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ et al.
Nature Genetics, 2024
BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.
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Driver mutations of intrahepatic cholangiocarcinoma shape clinically relevant genomic clusters with distinct molecular features and therapeutic vulnerabilities.
Wang XY et al.
Theranostics, 2022
34987644 (PubMed )
Supplement: thnov12p0260s1.pdf
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
34580349 (PubMed )
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Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival.
Quetel L et al.
Molecular Oncology, 2020
32083805 (PubMed )
Supplement: MOL2-14-1207-s005.xlsx › Table_S4
Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles.
Farshidfar F et al.
Cell Reports, 2017
28297679 (PubMed )
Supplement: NIHMS866722-supplement-2.xlsx › ST2._Validation_Gene_Mutations
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Puig S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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