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
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
39780207 (PubMed )
Supplement: 40246_2024_714_MOESM4_ESM.xlsx › Supplementary_Table_1
Clonal hematopoiesis impacts frailty in newly diagnosed multiple myeloma patients: a retrospective multicenter analysis.
Gelli E et al.
Scientific Reports, 2024
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.
Lin Y et al.
Frontiers in Oncology, 2024
38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S4
Somatic mutations in facial skin from countries of contrasting skin cancer risk.
King C et al.
Nature Genetics, 2023
37537257 (PubMed )
Supplement: 41588_2023_1468_MOESM3_ESM.xlsx › Supp_Table_1
Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.
Borcoman E et al.
International Journal of Molecular Sciences, 2023
37511329 (PubMed )
Supplement: ijms-24-11570-s001.zip › ijms-2309018-supplementary.pdf
The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.
Jin Y et al.
Journal of Oncology, 2023
Low-burden TP53 mutations in CLL: clinical impact and clonal evolution within the context of different treatment options.
Malcikova J et al.
Blood, 2021
33945616 (PubMed )
Supplement: 10.1182-2020009530_bloodbld2020009530-suppl5.pdf
Generation of Non-Small Cell Lung Cancer Patient-Derived Xenografts to Study Intratumor Heterogeneity.
Kanaki Z et al.
Cancers, 2021
34070013 (PubMed )
Supplement: cancers-13-02446-s001.zip › cancers-1192337-supplementary.pdf
Distinct Molecular Landscape of Epstein-Barr Virus Associated Pulmonary Lymphoepithelioma-Like Carcinoma Revealed by Genomic Sequencing.
Chau SL et al.
Cancers, 2020
32726920 (PubMed )
Supplement: cancers-12-02065-s001.zip › cancers-870865-supplementary_V2 › Supplementary_Tables_S1-S10.xlsx › Table_S7
Dual-molecular barcode sequencing detects rare variants in tumor and cell free DNA in plasma.
Hirotsu Y et al.
Scientific Reports, 2020
Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.
Wang S et al.
Frontiers in Oncology, 2020
32373528 (PubMed )
Supplement: Table_6.xlsx › Sheet1
Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease.
Heinemeyer T et al.
Dna and Cell Biology, 2019
The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.
Diederichs S et al.
Embo Molecular Medicine, 2016
26992833 (PubMed )
Supplement: EMMM-8-442-s002.docx
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
Královicová J et al.
Nucleic Acids Research, 2005
16141195 (PubMed )
Supplement: nar_33_15_4882__1.pdf
Splice mutations in the p53 gene: case report and review of the literature.
Holmila R et al.
Human Mutation, 2003
Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.
Rodriguez Almaraz E et al.
Neuro-oncology Advances, 0
40051658 (PubMed )
Supplement: vdaf024_suppl_supplementary_tables_s1-s4.xlsx › Table_S2
Select a paper to view details