Associated Papers
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.
Stoltze UK et al.
Genome Medicine, 2023
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
Lynch syndrome-related small intestinal adenocarcinomas.
Jun SY et al.
Oncotarget, 2017
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
Sun Y et al.
The Canadian Journal of Cardiology, 2015
Germline mutation and protein expression analysis of mismatch repair genes MSH6 and PMS2 in Malaysian Lynch syndrome patients.
Zahary MN et al.
International Journal of Colorectal Disease, 2014
Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome.
Takahashi M et al.
Familial Cancer, 2012
Association of rare MSH6 variants with familial breast cancer.
Wasielewski M et al.
Breast Cancer Research and Treatment, 2010
Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.
Naruse H et al.
Familial Cancer, 2009
A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients.
Koehler U et al.
Cancer Genetics and Cytogenetics, 2007
Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator software.
Colley J et al.
Human Mutation, 2005
Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer.
de Jong AE et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2004
Germ-line msh6 mutations in colorectal cancer families.
Kolodner RD et al.
Cancer Research, 1999