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-supp10.xlsx › Appendix_1-table_10
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
Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.
De Falco V et al.
Esmo Open, 2020
32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf
Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
Casula M et al.
Bmc Cancer, 2019
CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients.
Dalmasso B et al.
Journal of the American Academy of Dermatology, 2019
Distinct profiles of TERT promoter mutations and telomerase expression in head and neck cancer and cervical carcinoma.
Annunziata C et al.
International Journal of Cancer, 2018
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011
21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt
Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.
Casula M et al.
Bmc Cancer, 2009
Factors predicting the occurrence of germline mutations in candidate genes among patients with cutaneous malignant melanoma from South Italy.
Casula M et al.
European Journal of Cancer (oxford, England : 1990), 2007
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
Yang G et al.
The Journal of Investigative Dermatology, 2005
Mutation analysis of candidate genes in melanoma-prone families: evidence of different pathogenetic mechanisms at chromosome 9P21.
Casula M et al.
Melanoma Research, 2003
The CDKN2A (p16) gene and human cancer.
Foulkes WD et al.
Molecular Medicine (cambridge, Mass.), 1997
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