Author

Brian Kirmse

University of Mississippi Medical CenterORCID 0000-0002-9350-5029Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Aaron J. GoldenbergiD· 1 shared Aditi SatijaiD· 1 shared Al-Walid A. MohseniD· 1 shared Alberte Lundquist· 1 shared Aldona Zygmunt· 1 shared Alessandra FerliniiD· 1 shared Alexandra Wiedemann· 1 shared Alice Tuff-Lacey· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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1 shared paperGenetic & Genomic Medicine

Aaron J. GoldenbergORCID

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Author profile →

3 papers

Recent·Most cited

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah Bick, Sophia M. Adelson, Nils Gehlenborg, Laura M. Amendola, François Boemer, Alison J. Coffey, Nicolas Encina, Alessandra Ferlini, Janbernd Kirschner, Bianca E. Russell, Laurent Servais, Kristen Lipscomb Sund, Ryan J. Taft, Petros Tsipouras, , Dominique C. Pichard

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

Genetics in Medicine · May 9, 2025Peer-reviewedGenetic & Genomic Medicine

A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment

Yu Leng Phua, Olivia D’Annibale, Anuradha Karunanidhi, Al-Walid A. Mohsen, Brian Kirmse, Steven F. Dobrowolski, Jerry E. Vockley

This study investigates the pathology of Combined D,L-2-Hydroxyglutaric Aciduria and evaluates phenylbutyrate as a potential treatment through metabolomic and RNA-seq analyses.

bioRxiv · Feb 2, 2023 · PreprintGenetics

Genome sequencing as a first-line diagnostic test for hospitalized newborns

Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila, Susan M. Hiatt, Donald R. Latner, Michelle D. Amaral, James M.J. Lawlor, Kelly M. East, Meagan E. Cochran, Veronica Greve, Whitley V. Kelley, David E. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley D. Cannon, , Gregory M. Cooper

This study evaluates genome sequencing in hospitalized newborns, finding it more effective than standard care in identifying genetic diagnoses, especially in those with specific phenotypes.

medRxiv · Aug 31, 2021 · PreprintGenetic & Genomic Medicine