Associated Papers
PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.
Wang Y et al.
Military Medical Research, 2026
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
Sargen MR et al.
Jnci Cancer Spectrum, 2022
Targeting de novo lipogenesis and the Lands cycle induces ferroptosis in KRAS-mutant lung cancer.
Bartolacci C et al.
Nature Communications, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Constitutive mitochondrial DNA copy number in peripheral blood of melanoma families with and without CDKN2A mutations.
Hyland PL et al.
Journal of Carcinogenesis & Mutagenesis, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.
McWilliams RR et al.
European Journal of Human Genetics : Ejhg, 2011
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Demenais F et al.
Journal of the National Cancer Institute, 2010
Inherited and acquired variations in the hyaluronan synthase 1 (HAS1) gene may contribute to disease progression in multiple myeloma and Waldenstrom macroglobulinemia.
Adamia S et al.
Blood, 2008
Germline CDKN2A/p16 mutations are rare in multiple primary and familial malignant melanoma in German patients.
Lukowsky A et al.
Journal of Dermatological Science, 2008
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
Sahashi K et al.
Nucleic Acids Research, 2007
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Goldstein AM et al.
Cancer Research, 2006
Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
Goldstein AM
Human Mutation, 2004
Prospective risk of cancer in CDKN2A germline mutation carriers.
Goldstein AM et al.
Journal of Medical Genetics, 2004
Germline splicing mutations of CDKN2A predispose to melanoma.
Loo JC et al.
Oncogene, 2003
CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.
Rutter JL et al.
Oncogene, 2003
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT et al.
Journal of the National Cancer Institute, 2002
The CDKN2A (p16) gene and human cancer.
Foulkes WD et al.
Molecular Medicine (cambridge, Mass.), 1997