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Journal of Medical Genetics|June 26, 2025
Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanismsAngela L Jacobson, Amal AbuRayyan, Suleyman Gulsuner, et al.
American Journal of Human Genetics|June 6, 2025
Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretationMin Seon Park, Runjun D Kumar, Cristian Ovadiuc, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 18, 2019
Characterization of splice-altering mutations in inherited predisposition to cancerSilvia Casadei, Suleyman Gulsuner, Brian H Shirts, et al.
The Journal of Allergy and Clinical Immunology|April 17, 2021
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical managementSarah K Baxter, Tom Walsh, Silvia Casadei, et al.
JCO Precision Oncology|October 28, 2023
Exploring Stakeholders' Perspectives on Implementing Universal Germline Testing for Colorectal Cancer: Findings From a Clinical Practice SurveyLinda Rodgers-Fouche, Sanjeevani Arora, Charité Ricker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 21, 2025
Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassificationsAndrew Folta, Adriana E Sedeño Cortés, Pankhuri Gupta, et al.
JMIR Cancer|April 20, 2023
Extended Family Outreach in Hereditary Cancer Using Web-Based Genealogy, Direct-to-Consumer Ancestry Genetics, and Social Media: Mixed Methods Process Evaluation of the ConnectMyVariant InterventionAnnie T Chen, Jennifer Huey, Sandra Coe, et al.
Gastroenterology|March 1, 2017
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and SurveillanceSari Lieberman, Tom Walsh, Menachem Schechter, et al.
JAMA Network Open|March 7, 2025
Strategies to Assess Risk for Hereditary Cancer in Primary Care Clinics: A Cluster Randomized Clinical TrialElizabeth M Swisher, Heather M Harris, Sarah Knerr, et al.
Frontiers in Oncology|June 9, 2023
Current chemoprevention approaches in Lynch syndrome and Familial adenomatous polyposis: a global clinical practice surveyKathryn A Mraz, Rachel Hodan, Linda Rodgers-Fouche, et al.
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