Associated Papers
Coding Variants of the Genitourinary Development Gene WNT9B Carry High Risk for Prostate Cancer.
Dupont WD et al.
Jco Precision Oncology, 2025
Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.
Lee CL et al.
Diagnostics (basel, Switzerland), 2024
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
Lee CL et al.
Diagnostics (basel, Switzerland), 2024
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__
Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.
Shen R et al.
Signal Transduction and Targeted Therapy, 2023
37032379 (PubMed )
Supplement: 41392_2023_1358_MOESM4_ESM.xlsx › __
Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.
Zhao M et al.
Frontiers in Genetics, 2023
37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result
IGLV3-21*01 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling.
Maity PC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
32047037 (PubMed )
Supplement: pnas.1913810117.sapp.pdf
Plasma circulating tumor DNA assessment reveals KMT2D as a potential poor prognostic factor in extranodal NK/T-cell lymphoma.
Li Q et al.
Biomarker Research, 2020
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD et al.
Human Mutation, 2011
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family.
Duan Y et al.
Genetics and Molecular Biology, 0
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