James W. Askew

Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

Philip M. Kelley, David J. Harris, B.C. Comer et al. · The American Journal of Human Genetics · 1998 · 505 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +12

CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Lisa M. Astuto, Julie M. Bork, Michael D. Weston et al. · The American Journal of Human Genetics · 2002 · 230 citations · Full text

Mendelian Disorder, Genetic Disorder, Phenotype Heterogeneity +6

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss

Zohreh Talebizadeh, Philip M. Kelley, James W. Askew et al. · Human Mutation · 1999 · 65 citations

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Kevin T. Booth, James W. Askew, Zohreh Talebizadeh et al. · Genetics in Medicine · 2018 · 53 citations · Full text

Human Connexin 30 (GJB6), a Candidate Gene for Nonsyndromic Hearing Loss: Molecular Cloning, Tissue-Specific Expression, and Assignment to Chromosome 13q12

Philip M. Kelley, Satoko Abe, James W. Askew et al. · Genomics · 1999 · 50 citations

Genetic Disorder, Genetics, Audiology +8