Author

Adam Cook

Geisinger Medical CenterORCID 0000-0001-7256-4196Unclaimed 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· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anna Cantor· 1 shared Dale L. Bodian· 1 shared Daniel L. KastneriD· 1 shared David B. BeckiD· 1 shared David J. CareyiD· 1 shared Douglas R. StewartiD· 1 shared Jeremy S. HaleyiD· 1 shared Jung KimiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anna Cantor

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 27, 2022

Genomic ascertainment for UBA1 variants and VEXAS syndrome: a population-based study

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.

4 citations

humanwhole-exome sequencing

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