Author

Erika M Renkes

University of IowaORCID 0000-0002-2192-1015Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amama Ghaffar· 1 shared Carla J. Nishimura· 1 shared Héla AzaieziD· 1 shared Kathy L. Frees· 1 shared Kevin T. A. BoothiD· 1 shared L HoveyiD· 1 shared Mohsin ShahzadiD· 1 shared Muhammad RashidiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Amama Ghaffar

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1 paper

Recent·Most cited

Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness

Kevin T. A. Booth, Amama Ghaffar, Muhammad Rashid, L Hovey, Mureed Hussain, Kathy L. Frees, Erika M Renkes, Carla J. Nishimura, Mohsin Shahzad, Richard J. Smith, Zubair M. Ahmed, Héla Azaiez, Saima Riazuddin

The paper identifies four novel pathogenic variants in COCH causing autosomal recessive nonsyndromic hearing loss and shows non-truncating variants affect RNA-splicing.

Human Genetics · Jun 19, 2020Peer-reviewedGenetics