Associated Papers
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
Montellier E et al.
Ebiomedicine, 2026
41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1
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_MOESM2_ESM.xlsx › Table_S2
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1
Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
Montellier E et al.
Iscience, 2024
39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M et al.
American Journal of Human Genetics, 2024
38423010 (PubMed )
Supplement: mmc3.pdf
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 2016-06640A1.xls › SNVIndel
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
36964217 (PubMed )
Supplement: 41598_2023_32092_MOESM1_ESM.xlsx › Suppl._table_S1
Patterns of mutations in nine cancer-related genes and PAF development among smoking male patients diagnosed with bladder cancer.
Alshehri E et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2023
Isoforms of the p53 Family and Gastric Cancer: A Ménage à Trois for an Unfinished Affair.
Blanchet A et al.
Cancers, 2021
Identification of relevant genetic alterations in cancer using topological data analysis.
Rabadán R et al.
Nature Communications, 2020
32732999 (PubMed )
Supplement: 41467_2020_17659_MOESM3_ESM.xls › TableS1
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark
Contribution of allelic imbalance to colorectal cancer.
Palin K et al.
Nature Communications, 2018
30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
29267365 (PubMed )
Supplement: pone.0189881.s008.xlsx › S8a._Cat__1__all
Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1.
Pires C et al.
Stem Cell Research, 2016
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