Associated Papers
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.
Hoffmann M et al.
Scientific Reports, 2025
39979591 (PubMed )
Supplement: 41598_2025_90788_MOESM2_ESM.docx
Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.
Puli'uvea C et al.
Hematology (amsterdam, Netherlands), 2024
38197452 (PubMed )
Supplement: supplement_1.docx
Novel nucleotide variations in the thrombomodulin (THBD) gene involved in coagulation pathways can increase the risk of recurrent pregnancy loss (RPL).
Heidari MM et al.
Gene, 2024
Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.
Morishita S et al.
International Journal of Molecular Sciences, 2023
37629188 (PubMed )
Supplement: ijms-24-13008-s001.zip › ijms-2555672-supplementary.pdf
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs
KinaseMD: kinase mutations and drug response database.
Hu R et al.
Nucleic Acids Research, 2021
33137204 (PubMed )
Supplement: gkaa945_supplemental_files.zip › Supplementary_Table_S3.xlsx › Sheet1
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › TAM_nonsilent
High accuracy mutation detection in leukemia on a selected panel of cancer genes.
Kalender Atak Z et al.
Plos One, 2012
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