Author

Gretchen M. Urban

Geisinger Health SystemORCID 0009-0002-0990-6872Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1

Frequent Co-Authors

Alex R. ChangiD· 1 shared Alicia M. Golden· 1 shared Ana MoralesiD· 1 shared Andrea M. GrossiD· 1 shared Badar Shah· 1 shared Bruce D. GelbiD· 1 shared Bryn S. MooreiD· 1 shared David J. CareyiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alex R. ChangORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 7, 2025

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease

Gretchen M. Urban, Kulsoom Mohammad, Lakshna Sankar…·Alex R. Chang

This study evaluates genetic testing outcomes for kidney disease, finding 34% of patients had pathogenic variants, 52% had variants of uncertain significance (VUS), and multidisciplinary review with biobank data helped reclassify some VUS.

DOI 10.1101/2025.11.07.25339257

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintOct 9, 2024

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes

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.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky