Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network S Gulsuner, T Walsh, AC Watts, MK Lee, AM Thornton, S Casadei, ... Cell 154 (3), 518-529, 2013 | 604 | 2013 |
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 | 377 | 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 | 344 | 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 | 293 | 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 | 237 | 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, 50-57, 2000 | 219 | 2000 |
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 | 201 | 2002 |
Mitochondrial serine protease HTRA2 p. G399S in a kindred with essential tremor and Parkinson disease H Unal Gulsuner, S Gulsuner, FN Mercan, OE Onat, T Walsh, H Shahin, ... Proceedings of the National Academy of Sciences 111 (51), 18285-18290, 2014 | 160 | 2014 |
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss H Shahin, T Walsh, T Sobe, AA Rayan, ED Lynch, MK Lee, KB Avraham, ... The American Journal of Human Genetics 78 (1), 144-152, 2006 | 140 | 2006 |
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 | 130 | 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 | 124 | 2012 |
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 | 103 | 2010 |
Calcium Oxalate Stone Formation in the Inner Ear as a Result of an Slc26a4 Mutation*♦ AA Dror, Y Politi, H Shahin, DR Lenz, S Dossena, C Nofziger, H Fuchs, ... Journal of Biological Chemistry 285 (28), 21724-21735, 2010 | 90 | 2010 |
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 | 70 | 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 |
Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84 H Shahin, M Rahil, AA Rayan, KB Avraham, MC King, M Kanaan, T Walsh Journal of medical genetics 47 (9), 643-645, 2010 | 49 | 2010 |
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA VL Walsh, D Raviv, AA Dror, H Shahin, T Walsh, MN Kanaan, ... Mammalian Genome 22, 170-177, 2011 | 48 | 2011 |
Genomic analysis of inherited hearing loss in the Palestinian population A Abu Rayyan, L Kamal, S Casadei, Z Brownstein, F Zahdeh, H Shahin, ... Proceedings of the National Academy of Sciences 117 (33), 20070-20076, 2020 | 42 | 2020 |
Consortium on the Genetics of Schizophrenia (COGS) PAARTNERS Study Group Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network S Gulsuner, T Walsh, AC Watts, MK Lee, AM Thornton, S Casadei, ... Cell 154, 518-529, 2013 | 30 | 2013 |
DFNB28, a novel locus for prelingual nonsyndromic autosomal recessive hearing loss maps to 22q13 in a large consanguineous Palestinian kindred T Walsh, H Shahin, J Morrow, MC King, K Avraham, E Lynch, M Kanaan Bethlehem University Journal 19, 96-96, 2000 | 5 | 2000 |