Associated Papers
Genetic Determinants of Leisure-Time Physical Activity in the Taiwanese Population: A Genome-Wide Association Study.
Hsu LA et al.
Medicine and Science in Sports and Exercise, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
40595497 (PubMed )
Supplement: 41467_2025_60641_MOESM5_ESM.xlsx › COSMIC_annotated
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40127276 (PubMed )
Supplement: pnas.2420343122.sapp.pdf
Ras-MAPK pathway in patients with lupus nephritis.
Zhang C et al.
Lupus Science & Medicine, 2025
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
39091798 (PubMed )
Supplement: media-6.xlsx › COSMIC_annotated
Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.
Kim B et al.
Annals of Laboratory Medicine, 2024
37903652 (PubMed )
Supplement: alm-44-2-164-supple1.xlsx › Assay_B
Retrospective analysis of somatic mutations and clonal hematopoiesis in astronauts.
Brojakowska A et al.
Communications Biology, 2022
35978153 (PubMed )
Supplement: 42003_2022_3777_MOESM3_ESM.xlsx › Sheet1
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.
Massoth LR et al.
The Oncologist, 2021
33904632 (PubMed )
Supplement: ONCO-26-e1263-s001.xlsx › Variants
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Herkert JC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.
Chen Y et al.
Genes, Chromosomes & Cancer, 2006
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