Associated Papers
Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.
Oh E et al.
Clinical Genitourinary Cancer, 2025
Region-specific Wnt signaling responses promote gastric polyp formation in patients with familial adenomatous polyposis.
McGowan KP et al.
Jci Insight, 2023
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
No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome.
Charalsawadi C et al.
International Journal of Pediatrics, 2021
Burkitt-like lymphoma in a pediatric patient with familial adenomatous polyposis.
Strobel KM et al.
Cancer Genetics, 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
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients.
Sample DC et al.
Bmc Gastroenterology, 2018
Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.
Kalbfleisch T et al.
F1000research, 2015
Inflammatory bowel disease and familial adenomatous polyposis.
Samadder NJ et al.
Journal of Crohn's & Colitis, 2013
Shared genomic segment analysis: the power to find rare disease variants.
Knight S et al.
Annals of Human Genetics, 2012
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
Pritchard CC et al.
The Journal of Molecular Diagnostics : Jmd, 2012
Detection of genetic alterations in hereditary colorectal cancer screening.
Pineda M et al.
Mutation Research, 2010
American founder mutation for attenuated familial adenomatous polyposis.
Neklason DW et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2008
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.
Wu G et al.
Genetic Testing, 2001