Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss CM Sloan-Heggen, AO Bierer, AE Shearer, DL Kolbe, CJ Nishimura, ... Human genetics 135, 441-450, 2016 | 554 | 2016 |
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ... Human mutation 39 (11), 1593-1613, 2018 | 409 | 2018 |
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 | 380 | 2005 |
A genotype-phenotype correlation for GJB2 (connexin 26) deafness K Cryns, E Orzan, A Murgia, PLM Huygen, F Moreno, I Del Castillo, ... Journal of medical genetics 41 (3), 147-154, 2004 | 319 | 2004 |
Genomic landscape and mutational signatures of deafness-associated genes H Azaiez, KT Booth, SS Ephraim, B Crone, EA Black-Ziegelbein, ... The American Journal of Human Genetics 103 (4), 484-497, 2018 | 270 | 2018 |
Copy number variants are a common cause of non-syndromic hearing loss AE Shearer, DL Kolbe, H Azaiez, CM Sloan, KL Frees, AE Weaver, ... Genome medicine 6, 1-10, 2014 | 200 | 2014 |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola, A Simpson, ... The American Journal of Human Genetics 95 (4), 445-453, 2014 | 171 | 2014 |
Genotype–phenotype correlations for SLC26A4-related deafness H Azaiez, T Yang, S Prasad, JL Sorensen, CJ Nishimura, WJ Kimberling, ... Human genetics 122, 451-457, 2007 | 146 | 2007 |
gEAR: Gene Expression Analysis Resource portal for community-driven, multi-omic data exploration J Orvis, B Gottfried, J Kancherla, RS Adkins, Y Song, AA Dror, D Olley, ... Nature methods 18 (8), 843-844, 2021 | 138 | 2021 |
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 127 | 2014 |
High-throughput genetic testing for thrombotic microangiopathies and C3 glomerulopathies F Bu, NG Borsa, MB Jones, E Takanami, C Nishimura, JJ Hauer, H Azaiez, ... Journal of the American Society of Nephrology 27 (4), 1245-1253, 2016 | 123 | 2016 |
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran CM Sloan-Heggen, M Babanejad, M Beheshtian, AC Simpson, KT Booth, ... Journal of medical genetics 52 (12), 823-829, 2015 | 120 | 2015 |
TBC1D24 Mutation Causes Autosomal‐Dominant Nonsyndromic Hearing Loss H Azaiez, KT Booth, F Bu, P Huygen, SB Shibata, AE Shearer, D Kolbe, ... Human mutation 35 (7), 819-823, 2014 | 116 | 2014 |
GJB2: The spectrum of deafness‐causing allele variants and their phenotype H Azaiez, GP Chamberlin, SM Fischer, CL Welp, SD Prasad, RT Taggart, ... Human mutation 24 (4), 305-311, 2004 | 111 | 2004 |
Consanguinity, endogamy, and genetic disorders in Tunisia N Ben Halim, N Ben Alaya Bouafif, L Romdhane, R Kefi Ben Atig, ... Journal of community genetics 4, 273-284, 2013 | 107 | 2013 |
A novel DFNB1 deletion allele supports the existence of a distant cis‐regulatory region that controls GJB2 and GJB6 expression E Wilch, H Azaiez, RA Fisher, J Elfenbein, A Murgia, R Birkenhäger, ... Clinical genetics 78 (3), 267-274, 2010 | 101 | 2010 |
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East L Romdhane, R Kefi, H Azaiez, NB Halim, K Dellagi, S Abdelhak Orphanet journal of rare diseases 7, 1-11, 2012 | 91 | 2012 |
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs MT DiStefano, SE Hemphill, AM Oza, RK Siegert, AR Grant, MY Hughes, ... Genetics in Medicine 21 (10), 2239-2247, 2019 | 82 | 2019 |
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival V Michel, KT Booth, P Patni, M Cortese, H Azaiez, A Bahloul, K Kahrizi, ... EMBO Molecular Medicine 9 (12), 1711-1731, 2017 | 80 | 2017 |
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice H Azaiez, AR Decker, KT Booth, AC Simpson, AE Shearer, PLM Huygen, ... PLoS genetics 11 (3), e1005137, 2015 | 63 | 2015 |