Author

Amama Ghaffar

University of Maryland, Baltimore

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

Carla J. Nishimura· 1 shared Erika M RenkesiD· 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

Carla J. Nishimura

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Author profile →

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