Associated Papers
Tumor cell-based liquid biopsy using high-throughput microfluidic enrichment of entire leukapheresis product.
Mishra A et al.
Nature Communications, 2025
A Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants.
Szabo E et al.
Human Mutation, 2025
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.
Mota A et al.
Oncogene, 2022
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ et al.
Laboratory Medicine, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Drost M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Whole-exome sequencing revealed mutational profiles of giant cell glioblastomas.
Shi ZF et al.
Brain Pathology (zurich, Switzerland), 2019
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas.
Forsström LM et al.
Journal of Neuropathology and Experimental Neurology, 2017
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
Houlleberghs H et al.
Plos Genetics, 2017
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
Terui H et al.
Journal of Biomedical Science, 2013
Three novel missense germline mutations in different exons of MSH6 gene in Chinese hereditary non-polyposis colorectal cancer families.
Yan SY et al.
World Journal of Gastroenterology, 2007