Associated Papers
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Fortuno C et al.
Genome Medicine, 2025
41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM1_ESM.xlsx › Table_S1
Genomic characterization and risk stratification of esophageal squamous dysplasia.
Min Q et al.
Medical Review (2021), 2024
38919397 (PubMed )
Supplement: j_mr-2024-0008_suppl_011.pdf
Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing.
Taher MM et al.
Cureus, 2023
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM7_ESM.xlsx › Sheet1
Mutation Profiling of Intracranial Myxopapillary Ependymoma by Next Generation DNA Sequencing.
Taher MM et al.
The Gulf Journal of Oncology, 2021
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Ticha I et al.
Scientific Reports, 2019
31745173 (PubMed )
Supplement: 41598_2019_53636_MOESM2_ESM.xlsx › class5___class4
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels
Mutational and gene fusion analyses of primary large cell and large cell neuroendocrine lung cancer.
Karlsson A et al.
Oncotarget, 2015
26124082 (PubMed )
Supplement: oncotarget-06-22028-s003.xlsx › Variants_in_Lund_cohort
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