Associated Papers
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
40238651 (PubMed )
Supplement: elife-95347-supp11.xlsx › Appendix_1-table_11
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Biorxiv : the Preprint Server for Biology, 2025
38234851 (PubMed )
Supplement: media-11.pdf
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
34521998 (PubMed )
Supplement: 41431_2021_959_MOESM4_ESM.pdf
Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.
Kiefer KC et al.
Esc Heart Failure, 2021
33779075 (PubMed )
Supplement: EHF2-8-1873-s002.xlsx › Sheet1
A Rare Variant in ERF (rs144812092) Predisposes to Prostate and Bladder Cancers in an Extended Pedigree.
Cannon-Albright LA et al.
Cancers, 2021
Genetic Alterations in the INK4a/ARF Locus: Effects on Melanoma Development and Progression.
Ming Z et al.
Biomolecules, 2020
Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants.
Li C et al.
Melanoma Research, 2020
A novel CDKN2A variant (p16L117P ) in a patient with familial and multiple primary melanomas.
Li C et al.
Pigment Cell & Melanoma Research, 2019
BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.
Kemper K et al.
Cell Reports, 2016
27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix
Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.
Hu C et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2016
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