Associated Papers
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Early genetic events in the colorectal carcinogenic pathway of familial adenomatous polyposis and sporadic polyp: germline and somatic alterations in carcinogenesis.
Tanabe H et al.
Frontiers in Genetics, 2025
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data
Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies.
Büki G et al.
International Journal of Molecular Sciences, 2024
Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.
Kleeman SO et al.
Gut, 2020
31563876 (PubMed )
Supplement: gutjnl-2019-319126supp003.xlsx › Sup_Table_3
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.
Gong R et al.
Cancer Management and Research, 2019
miR-155 Is Downregulated in Familial Adenomatous Polyposis and Modulates WNT Signaling by Targeting AXIN1 and TCF4.
Prossomariti A et al.
Molecular Cancer Research : Mcr, 2018
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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