Associated Papers
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.
Cai J et al.
Signal Transduction and Targeted Therapy, 2024
Whole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital.
Mehta S et al.
Diseases (basel, Switzerland), 2024
Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.
Huang YT et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2024
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.
Sokkar MF et al.
Journal, Genetic Engineering & Biotechnology, 2023
Mutation analysis of the TERT gene in ovarian cancer patients of the Turkish population by next generation sequencing method.
Capar Gorali B et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2023
Association of TERT (rs2736098 and rs2736100) genetic variants with elevated risk of hepatocellular carcinoma: a retrospective case-control study.
Seif Eldin WR et al.
Scientific Reports, 2023
Construction and evaluation of the functional polygenic risk score for gastric cancer in a prospective cohort of the European population.
Gu Y et al.
Chinese Medical Journal, 2023
Genetic susceptibility of bladder cancer in the Lebanese population.
Kourie HR et al.
Bmc Medical Genomics, 2022
Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.
Kaissarian NM et al.
Journal of the National Cancer Institute, 2022
Genetic Susceptibility in Understanding of Pancreatic Ductal Adenocarcinoma Risk: A Decade-Long Effort of the PANDORA Consortium.
Vodickova L et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2022
Germline mutations among Polish patients with acute myeloid leukemia.
Bąk A et al.
Hereditary Cancer in Clinical Practice, 2021
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Dhindsa RS et al.
Communications Biology, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.
Wang J et al.
Scientific Reports, 2017
Five gene variants in nonagenarians, centenarians and average individuals.
Kolovou V et al.
Archives of Medical Science : Ams, 2017
Association of human telomerase reverse transcriptase gene polymorphisms, serum levels, and telomere length with renal cell carcinoma risk and pathology.
de Martino M et al.
Molecular Carcinogenesis, 2016
Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology.
Vece TJ et al.
The Journal of Pediatrics, 2012
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
Mansour S et al.
American Journal of Medical Genetics. Part A, 2010
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
Kirwan M et al.
Human Mutation, 2009
Mutations in telomerase catalytic protein in Japanese children with aplastic anemia.
Liang J et al.
Haematologica, 2006
Dyskeratosis congenita: a disorder of defective telomere maintenance?
Walne AJ et al.
International Journal of Hematology, 2005
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Vulliamy TJ et al.
Blood Cells, Molecules & Diseases, 0