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Publications by Bryn Webb

Identification of a Novel Pathogenic OTOF Variant Causative of Nonsyndromic Hearing Loss With High Frequency in the Ashkenazi Jewish Population

The Application of Clinical Genetics

English

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Transcriptional and Biochemical Function

English

Related publications

The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed With Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa

Pediatric Research

English

Screening of Connexin 26 in Nonsyndromic Hearing Loss

International Archives of Otorhinolaryngology

Otorhinolaryngology

English

Cost-Effectiveness of Population Based BRCA Testing With Varying Ashkenazi Jewish Ancestry

American Journal of Obstetrics and Gynecology

English

Signatures of Founder Effects, Admixture, and Selection in the Ashkenazi Jewish Population

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Presymptomatic Diagnosis of Nonsyndromic Hearing Loss by Genotyping

Archives of Otolaryngology–Head & Neck Surgery

English

Noncoding Mutations of HGF Are Associated With Nonsyndromic Hearing Loss, DFNB39

American Journal of Human Genetics

English

Esteem Treatment of Profound High-Frequency Hearing Loss

Otolaryngology - Head and Neck Surgery

Otorhinolaryngology

English

Comprehensive Analysis of Deafness Genes in Families With Autosomal Recessive Nonsyndromic Hearing Loss

Multidisciplinary

English

A Novel ABCC6 Variant Causative of Pseudoxanthoma Elasticum

Human Genome Variation

Molecular Biology

English