Associated Papers
Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.
Wong K et al.
Nature Communications, 2025
40389436 (PubMed )
Supplement: 41467_2025_59871_MOESM4_ESM.xlsx › Supp._Data_2a_-_BCA
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc6.xlsx › ST6B.Trans_germ_som
Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment.
Andres EM et al.
Children (basel, Switzerland), 2023
37508616 (PubMed )
Supplement: children-10-01119-s001.zip › children-2428542-supplementary.pdf
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL18
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6
High-impact FN1 mutation decreases chondrogenic potential and affects cartilage deposition via decreased binding to collagen type II.
van Hoolwerff M et al.
Science Advances, 2021
34739320 (PubMed )
Supplement: sciadv.abg8583_sm.pdf
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
He C et al.
Nature Communications, 2021
34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2d
Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.
Ke L et al.
Frontiers in Molecular Biosciences, 2021
35118119 (PubMed )
Supplement: Table3.xlsx › sheet_1
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Codina-Sola M et al.
Journal of Medical Genetics, 2019
31413120 (PubMed )
Supplement: jmedgenet-2019-106080supp001.pdf
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Ritelli M et al.
Genes, 2019
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
29575536 (PubMed )
Supplement: GCC-57-366-s003.xlsx › MSS
Somatic mutation driven codon transition bias in human cancer.
Son H et al.
Scientific Reports, 2017
29079855 (PubMed )
Supplement: 41598_2017_14543_MOESM1_ESM.pdf
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_early_met_1
High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias.
Waterfall JJ et al.
Nature Genetics, 2014
24241536 (PubMed )
Supplement: NIHMS533714-supplement-2.xls › allNovelNotinCleanNormalsProtAl
Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor.
Murphy SJ et al.
Gastroenterology, 2013
Mutational landscape of head and neck squamous cell carcinomas in a South Asian population.
Ghias K et al.
Genetics and Molecular Biology, 0
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