Author
Geisinger Health SystemORCID 0000-0002-3279-7873Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
G J M Shanika R Jayasinghe, Jianxin Shi, Rohit Thakur…·Nhan Do
This paper identifies 116 risk loci for melanoma through GWAS, links susceptibility to immunity and Wnt signaling, and develops a PRS improving risk prediction.
Douglas R. Stewart, Jung Gil KIM, Jeremy S. Haley…·David J. Carey
This study evaluates cancer risk and mortality in individuals with PALB2 pathogenic variants using genomic data from two cohorts, finding increased cancer odds and mortality.
Sun Young Kim, Jung Kim, Mark Ramos…·Arden Moscati
This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.
Jung Kim, Gina M. Ney, Megan N. Frone…·Douglas R. Stewart
This study quantifies cancer risk and prevalence in adults with germline pathogenic variants in RASopathy genes using genomic data from three biobanks.
Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes…·Rajesh V. Thakker
The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.
David B. Beck, Dale L. Bodian, Vandan Shah…·Douglas R. Stewart
This study uses genomic ascertainment to determine the prevalence and clinical features of pathogenic UBA1 variants in a population-based cohort, finding higher prevalence and expressivity than previously reported.