Author

Diana L. Kolbe

University of IowaORCID 0000-0003-0827-1473Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:Bayesian inference· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Arthur Duston OdelliD· 1 shared Ashley E. Sjurson· 1 shared Brian Hong· 1 shared Chloe Ovel· 1 shared Genevieve M. Cox· 1 shared Héla AzaieziD· 1 shared Hiroyuki KawanoiD· 1 shared Katherine McCormick· 1 shared

Activity by Year

2019-2026 · peak 1/yr

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10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Arthur Duston OdellORCID

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2 papers

Recent·Most cited

GeneticsPLoS GeneticsPeer-reviewedSep 30, 2026

The prevalence of protein misfolding as a mechanism for hereditary deafness

Rose A. Gogal, Genevieve M. Cox, Diana L. Kolbe…·Michael J. Schnieders

The paper evaluates computational frameworks to prioritize pathogenic variants in deafness-associated genes, identifying 28,866 VUSs with high pathogenicity probability and improving diagnoses for 12 patients.

DOI 10.1371/journal.pgen.1012085

humanDNA methylation

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NeurosciencebioRxivPreprintOct 31, 2019

Transcriptome profiles in brains of mice heterozygous for a DYT1 dystonia-associated mutation in the endogenous Tor1a gene

Sara B. Mitchell, Michael S. Chimenti, Hiroyuki Kawano…·Nobutoshi C. Harata

The paper examines transcriptome profiles in mouse brain regions with a DYT1 dystonia mutation, finding subtle genotype-dependent changes across regions but not within individual regions.

1 citation

mousebulk RNA-seq

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