Author

Kathy L. Frees

University of Iowa

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

Biology Disciplines

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Genetics· 1

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 Erika M RenkesiD· 1 shared Héla AzaieziD· 1 shared Kevin T. A. BoothiD· 1 shared L HoveyiD· 1 shared Mohsin ShahzadiD· 1 shared Muhammad RashidiD· 1 shared

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2020-2020 · peak 1/yr

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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

GeneticsHuman GeneticsPeer-reviewedJun 19, 2020

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

Kevin T. A. Booth, Amama Ghaffar, Muhammad Rashid…·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.

21 citations

humanwhole-exome sequencing

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