TB Friedman

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Lindsay A. Farrer, Grundfast Km, J. Amos et al. · PubMed · 1992 · 188 citations

Identities and frequencies of mutations of the otoferlin gene (<i>OTOF</i>) causing DFNB9 deafness in Pakistan

BY Choi, ZM Ahmed, Saima Riazuddin et al. · Clinical Genetics · 2009 · 102 citations

Alternative Splice Isoform, Genetics, Genetic Epidemiology +16

Identities, frequencies and origins of <i>TMC1</i> mutations causing DFNB7/B11 deafness in Pakistan

S‐i Kitajiri, Ryan P. McNamara, Tomoko Makishima et al. · Clinical Genetics · 2007 · 69 citations

A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype–phenotype correlation for amino acid‐572 of TMC1

S‐i Kitajiri, Tomoko Makishima, TB Friedman et al. · Clinical Genetics · 2007 · 65 citations · Full text

Genetics, Genetic Epidemiology, Molecular Biology +18

A locus for autosomal dominant progressive non‐syndromic hearing loss, <i>DFNA27</i>, is on chromosome 4q12‐13.1

RA Fridell, ET Boger, TB San Agustin et al. · Clinical Genetics · 2008 · 19 citations