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-fig2-figsupp3-data1.xlsx › Figure_2-figure_supplement_3A
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
Molecular Genetics of Diffuse Sclerosing Papillary Thyroid Cancer.
Alswailem M et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Whole genome analysis reveals the genomic complexity in metastatic cutaneous squamous cell carcinoma.
Thind AS et al.
Frontiers in Oncology, 2022
35982973 (PubMed )
Supplement: Table_4.xls › Variant_details_of_coding_drive
The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.
Anwar N et al.
Bmc Genomics, 2021
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
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
Yang G et al.
The Journal of Investigative Dermatology, 2005
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