Thomas Friedman

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"Thomas Friedman"
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Rehman AU, Friedman TB, Griffith AJ. (2016) Unresolved questions regarding human hereditary deafness. Oral Diseases
Rehman AU, Santos-Cortez RL, Drummond MC, et al. (2014) Challenges and solutions for gene identification in the presence of familial locus heterogeneity. European Journal of Human Genetics : Ejhg
Ali RA, Rehman AU, Khan SN, et al. (2012) DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3. Clinical Genetics. 81: 498-500
May-Simera H, Rachel R, Choi B, et al. (2012) Reciprocal rescue of sensory cell cilia defects by Cep290 and Mkks alleles Cilia. 1
Borck G, Ur Rehman A, Lee K, et al. (2011) Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. American Journal of Human Genetics. 88: 127-37
Rehman AU, Morell RJ, Belyantseva IA, et al. (2010) Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. American Journal of Human Genetics. 86: 378-88
Schultz JM, Khan SN, Ahmed ZM, et al. (2009) Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. American Journal of Human Genetics. 85: 25-39
Choi BY, Ahmed ZM, Riazuddin S, et al. (2009) Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clinical Genetics. 75: 237-43
Ahmed ZM, Riazuddin S, Khan SN, et al. (2009) USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23 Clinical Genetics. 75: 86-91
Ahmed ZM, Masmoudi S, Kalay E, et al. (2008) Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nature Genetics. 40: 1335-40
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