Associated Papers
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet1_SMARCA2_4_pathogenecity
A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.
Weller C et al.
Science (new York, N.y.), 2025
40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40778119 (PubMed )
Supplement: media-2.pdf
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S4
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40166537 (PubMed )
Supplement: media-1.pdf
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.
Chen SH et al.
Cancer Medicine, 2024
38895905 (PubMed )
Supplement: CAM4-13-e7384-s003.xlsx › Sheet1
DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other Cancers.
Rogozin IB et al.
Frontiers in Genetics, 2021
34093666 (PubMed )
Supplement: Data_Sheet_2.xls › Sheet1
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Fernando TM et al.
Nature Communications, 2020
33144586 (PubMed )
Supplement: 41467_2020_19402_MOESM4_ESM.xlsx › Sheet1
A Structural Model of the Endogenous Human BAF Complex Informs Disease Mechanisms.
Mashtalir N et al.
Cell, 2020
Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.
López C et al.
Nature Communications, 2019
30926794 (PubMed )
Supplement: 41467_2019_8578_MOESM9_ESM.xlsx › Tabelle3__3_
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b
Exome-wide somatic mutation characterization of small bowel adenocarcinoma.
Hänninen UA et al.
Plos Genetics, 2018
29522538 (PubMed )
Supplement: pgen.1007200.s003.xlsx › b
Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing.
Richter J et al.
Nature Genetics, 2012
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
Zentner GE et al.
American Journal of Medical Genetics. Part A, 2010
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