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Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82 T Walsh, H Shahin, T Elkan-Miller, MK Lee, AM Thornton, W Roeb, ... The American Journal of Human Genetics 87 (1), 90-94, 2010 | 338 | 2010 |
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30 T Walsh, V Walsh, S Vreugde, R Hertzano, H Shahin, S Haika, MK Lee, ... Proceedings of the National Academy of Sciences 99 (11), 7518-7523, 2002 | 289 | 2002 |
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families Z Brownstein, LM Friedman, H Shahin, V Oron-Karni, N Kol, AA Rayyan, ... Genome biology 12, 1-11, 2011 | 232 | 2011 |
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 231 | 2019 |
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population T Sobe, S Vreugde, H Shahin, M Berlin, N Davis, M Kanaan, Y Yaron, ... Human genetics 106, 50-57, 2000 | 217 | 2000 |
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal … I Zwaenepoel, M Mustapha, M Leibovici, E Verpy, R Goodyear, XZ Liu, ... Proceedings of the National Academy of Sciences 99 (9), 6240-6245, 2002 | 197 | 2002 |
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East H Shahin, T Walsh, T Sobe, E Lynch, MC King, KB Avraham, M Kanaan Human genetics 110, 284-289, 2002 | 196 | 2002 |
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51 T Walsh, SB Pierce, DR Lenz, Z Brownstein, O Dagan-Rosenfeld, ... The American Journal of Human Genetics 87 (1), 101-109, 2010 | 132 | 2010 |
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss KO Yariz, D Duman, CZ Seco, J Dallman, M Huang, TA Peters, A Sirmaci, ... The American Journal of Human Genetics 91 (5), 872-882, 2012 | 123 | 2012 |
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome D Doherty, AE Chudley, G Coghlan, GE Ishak, AM Innes, EG Lemire, ... The American Journal of Human Genetics 90 (6), 1088-1093, 2012 | 117 | 2012 |
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure Y Tenenbaum-Rakover, A Weinberg-Shukron, P Renbaum, O Lobel, ... Journal of medical genetics 52 (6), 391-399, 2015 | 110 | 2015 |
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families H Shahin, T Walsh, AA Rayyan, MK Lee, J Higgins, D Dickel, K Lewis, ... European Journal of Human Genetics 18 (4), 407-413, 2010 | 101 | 2010 |
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis A Weinberg-Shukron, P Renbaum, R Kalifa, S Zeligson, Z Ben-Neriah, ... The Journal of Clinical Investigation 125 (11), 4295-4304, 2015 | 91 | 2015 |
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Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population JA Sa'd, M Indelman, E Pfendner, TC Falik-Zaccai, M Mizrachi-Koren, ... Journal of investigative dermatology 126 (4), 777-781, 2006 | 74 | 2006 |
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss A Sırmacı, S Erbek, J Price, M Huang, D Duman, FB Cengiz, G Bademci, ... The American Journal of Human Genetics 86 (5), 797-804, 2010 | 69 | 2010 |
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population T Walsh, AA Rayan, JA Sa'ed, H Shahin, J Shepshelovich, MK Lee, ... Human genomics 2, 1-9, 2006 | 63 | 2006 |
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