|A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing …|
FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ...
Journal of medical genetics 42 (7), 588-594, 2005
|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
|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
|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 (9), 1-11, 2011
|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 (1), 50-57, 2000
|Genetics of congenital deafness in the Palestinian population: multiple connexiná26 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 (3), 284-289, 2002
|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
|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
|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
|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
|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
|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
|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
|Multifarious characterization of Leishmania tropica from a Judean desert focus, exposing intraspecific diversity and incriminating Phlebotomus sergenti as its vector|
LF Schnur, A Nasereddin, CL Eisenberger, CL Jaffe, M El Fari, K Azmi, ...
The American journal of tropical medicine and hygiene 70 (4), 364-372, 2004
|Epidermolysis bullosa simplex in Israel: clinical and genetic features|
D Ciubotaru, R Bergman, D Baty, M Indelman, E Pfendner, D Petronius, ...
Archives of dermatology 139 (4), 498-505, 2003
|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
|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
|Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population|
T Walsh, AA Rayan, H Shahin, J Shepshelovich, MK Lee, K Hirschberg, ...
Human genomics 2 (4), 1-9, 2006
|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
|Correlation between allergy and persistent Epstein-Barr virus infections in chronic-active Epstein-Barr virus-infected patients|
GB Olson, MN Kanaan, GM Gersuk, LM Kelley, JF Jones
Journal of allergy and clinical immunology 78 (2), 308-314, 1986