Author

Erin M. McChesney

University of Pittsburgh

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Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Aidan W. PorteriD· 1 shared Jacob D. DurrantiD· 1 shared Jeffrey L. BrodskyiD· 1 shared Nga H. NguyeniD· 1 shared Shaohu ShengiD· 1 shared Srikant SarangiiD· 1 shared Thomas R. KleymaniD· 1 shared Zachary W. PitlukiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

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8 top collaborators · 28 mutual co-author links

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1 shared paperGenetics

Aidan W. PorterORCID

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1 paper

Recent·Most cited

GeneticsPLoS GeneticsPeer-reviewedNov 13, 2023

Genome mining yields new disease-associated ROMK variants with distinct defects

Nga H. Nguyen, Srikant Sarangi, Erin M. McChesney…·Jeffrey L. Brodsky

The paper identifies new disease-associated ROMK variants using genomic databases and computational tools, revealing distinct molecular defects in protein folding and function.

7 citations

humanwhole-exome sequencing

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