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The Journal of Biological Chemistry|October 20, 2019
Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein-coupled receptorsRidge Dershem, Raghu P R Metpally, Kirk Jeffreys, et al.
American Journal of Human Genetics|May 11, 2020
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare PopulationRidge Dershem, Caroline M Gorvin, Raghu P R Metpally, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2016
The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine researchDavid J Carey, Samantha N Fetterolf, F Daniel Davis, et al.
Genetic Epidemiology|February 16, 2017
Genetic risk models: Influence of model size on risk estimates and precisionYing Shan, Gerard Tromp, Helena Kuivaniemi, et al.
Scientific Reports|November 26, 2025
Novel polygenic risk score associates with diverticulitis in a multi-institutional, ancestrally diverse cohortChristopher J Neylan, Thomas Ueland, Sarah A Abramowitz, et al.
Frontiers in Genetics|June 12, 2014
Genetic-based prediction of disease traits: prediction is very difficult, especially about the futureSteven J Schrodi, Shubhabrata Mukherjee, Ying Shan, et al.
Medrxiv : the Preprint Server for Health Sciences|June 6, 2025
Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and DissectionJohn DePaolo, Diane T Smelser, Dongchuan Guo, et al.
Circulation. Genomic and Precision Medicine|October 23, 2019
Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated GenesEric D Carruth, Wilson Young, Dominik Beer, et al.
HGG Advances|October 1, 2023
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variantsKelvin C de Andrade, Natasha T Strande, Jung Kim, et al.
JAMA Dermatology|May 27, 2026
Prevalence of Familial Melanoma Genes and Cancer Risk Among Genomically Ascertained IndividualsAlisa M Goldstein, Jung Kim, Jeremy S Haley, et al.
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