Associated Papers
Common gene mutations in 103 authenticated colorectal cancer cell lines.
Kranjec C et al.
Oncogenesis, 2026
41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10
Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.
Padmanarayana M et al.
Biorxiv : the Preprint Server for Biology, 2025
41278994 (PubMed )
Supplement: media-1.xlsx › WNT_DC_CBE_Screen
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 › d_Exp-data
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C et al.
American Journal of Human Genetics, 2022
35460607 (PubMed )
Supplement: mmc2.xlsx › Table_S4
A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.
Djursby M et al.
Hereditary Cancer in Clinical Practice, 2020
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Djursby M et al.
Frontiers in Genetics, 2020
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