Associated Papers
Identification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis.
Li W et al.
Science China. Life Sciences, 2025
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
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 2025
39876053 (PubMed )
Supplement: supplement_1.pdf
Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.
Yeh CN et al.
Npj Precision Oncology, 2025
39809865 (PubMed )
Supplement: 41698_2025_802_MOESM1_ESM.pdf
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
Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.
Huang CY et al.
Discover Oncology, 2024
38981878 (PubMed )
Supplement: 12672_2024_1131_MOESM2_ESM.xlsx › Mutation
Clinical laboratory characteristics and gene mutation spectrum of Ph-negative MPN patients with atypical variants of JAK2, MPL, or CALR.
Wang Z et al.
Cancer Medicine, 2024
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.
Kantaputra P et al.
Genes, 2022
Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.
Lee NY et al.
Cancers, 2022
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.
Wang J et al.
Frontiers in Immunology, 2022
35572515 (PubMed )
Supplement: Table_2.xlsx › S6
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations
Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background.
Eng ZH et al.
Frontiers in Endocrinology, 2022
36686473 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_2
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.
Fang Y et al.
Frontiers in Oncology, 2020
33520721 (PubMed )
Supplement: Table_2.xlsx › Sheet1
Janus kinase 2 variants associated with the transformation of myeloproliferative neoplasms into acute myeloid leukemia.
Benton CB et al.
Cancer, 2019
Next-generation sequencing with a 54-gene panel identified unique mutational profile and prognostic markers in Chinese patients with myelofibrosis.
Gill H et al.
Annals of Hematology, 2019
Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.
Lu YW et al.
Plos One, 2016
27023146 (PubMed )
Supplement: pone.0152673.s002.xlsx › p2-1
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