Author

Albert Amberger

Innsbruck Medical University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

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

Frequent Co-Authors

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

Activity by Year

2017-2017 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Andrea J. Deutschmann

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1 paper

Recent·Most cited

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, Albert Amberger, Andrea J. Deutschmann, Sandra Demetz, Kyle Thompson, James O’Sullivan, Inna A. Belyantseva, Melanie Barzik, Simon G. Williams, Sanjeev S. Bhaskar, Emma M. Jenkinson, Nada Al-Sheqaih, Zeev Blumenfeld, , 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.

bioRxiv · Jul 25, 2017 · PreprintGenetics