Associated Papers
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1
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
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST15-PS1_PM5_hypothethical_vars
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › PMS2
High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.
Brea-Fernández AJ et al.
Clinical Genetics, 2014
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
Vaughn CP et al.
Human Mutation, 2010
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