Associated Papers
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Multi-organ landscape of therapy-resistant melanoma.
Liu S et al.
Nature Medicine, 2023
37106167 (PubMed )
Supplement: 41591_2023_2304_MOESM2_ESM.xlsx › Supplementary_Table_5
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants
Case report: 16-yr life history and genomic evolution of an ER+ HER2- breast cancer.
Xu B et al.
Cold Spring Harbor Molecular Case Studies, 2020
33008833 (PubMed )
Supplement: supp_mcs.a005629_Supplemental_Files_1-5.pdf
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
Frayling IM et al.
Journal of Medical Genetics, 2019
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