Author

James O’Sullivan

University of ManchesterORCID 0009-0002-3425-6058Unclaimed ORCID profile · follow to get notified of new preprints

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James O’Sullivan1 paper · Northwestern University

Biology Disciplines

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

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Albert Amberger· 1 shared Andrea J. Deutschmann· 1 shared Emma M. JenkinsoniD· 1 shared Inna A. BelyantsevaiD· 1 shared Irit HochbergiD· 1 shared Jill E. UrquhartiD· 1 shared Johannes ZschockeiD· 1 shared Kevin James MunroiD· 1 shared

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2017-2017 · peak 1/yr

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1 shared paperGenetics

Albert Amberger

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintJul 25, 2017

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

Irit Hochberg, Leigh A. M. Demain, Jill E. Urquhart…·William G. Newman

The paper identifies a homozygous variant in KIAA0391 (PRORP) as a cause of Perrault syndrome, showing reduced mitochondrial RNase P activity and impaired tRNA processing.

7 citations

humanstatistical model

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