Associated Papers
Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management.
Daoud EV et al.
Acta Neuropathologica Communications, 2022
35440040 (PubMed )
Supplement: 40478_2022_1362_MOESM2_ESM.xlsx › chordoid_mutations
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
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
Overbeek KA et al.
Journal of Medical Genetics, 2021
32482799 (PubMed )
Supplement: jmedgenet-2019-106562supp001.pdf
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.
Chan SH et al.
Hereditary Cancer in Clinical Practice, 2021
Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib.
Hassan M et al.
Cold Spring Harbor Molecular Case Studies, 2019
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4
CDKN2A germline mutations in individuals with cutaneous malignant melanoma.
Orlow I et al.
The Journal of Investigative Dermatology, 2007
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Goldstein AM et al.
Cancer Research, 2006
Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.
Begg CB et al.
Journal of the National Cancer Institute, 2005
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