Associated Papers
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
McGlacken-Byrne SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.
Sora V et al.
Protein Science : a Publication of the Protein Society, 2023
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
Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.
Lieb V et al.
Cells, 2022
A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus-like Disease in Mice.
Meas R et al.
Acr Open Rheumatology, 2022
Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.
Lieb V et al.
Cells, 2021
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
American Association of Neuropathologists, Inc. Abstracts of the 97th Annual Meeting June 10-13, 2021 St. Louis, Missouri.
Unknown Author
Journal of Neuropathology and Experimental Neurology, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
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
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.
Xavier A et al.
Molecular Genetics & Genomic Medicine, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M et al.
Familial Cancer, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Mutational heterogeneity in non-serous ovarian cancers.
Teer JK et al.
Scientific Reports, 2017
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.
Mauer CB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Association of rare MSH6 variants with familial breast cancer.
Wasielewski M et al.
Breast Cancer Research and Treatment, 2010
Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.
Martinez SL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
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