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Kathy L. Frees

University of Iowa

40

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Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients.

2021 Otolaryngology-Head and Neck Surgery
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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

2021 European Journal of Human Genetics
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Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.

2020 Ophthalmic Genetics
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Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness

2020 bioRxiv
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Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.

2020 Human Genetics
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A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.

2020 Human Genetics
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Exonic mutations and exon skipping: Lessons learned from DFNA5

2018 Human Mutation
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Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome

2018 Journal of The American Society of Nephrology
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Genetic Abnormalities in Complement Regulating Proteins in C3 Glomerulopathy

2018 American Journal of Clinical Pathology
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Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots

2018 Otolaryngology-Head and Neck Surgery
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