| 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 | 489 | 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 | 348 | 2018 |
| 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 | 228 | 2018 |
| 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 | 167 | 2014 |
| 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 | 119 | 2014 |
| 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 | 116 | 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 | 110 | 2014 |
| 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 | 73 | 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 | 71 | 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 |
| Exonic mutations and exon skipping: Lessons learned from DFNA5 KT Booth, H Azaiez, K Kahrizi, D Wang, Y Zhang, K Frees, C Nishimura, ... Human mutation 39 (3), 433-440, 2018 | 61 | 2018 |
| PDZD7 and hearing loss: More than just a modifier KT Booth, H Azaiez, K Kahrizi, AC Simpson, WTA Tollefson, CM Sloan, ... American Journal of Medical Genetics Part A 167 (12), 2957-2965, 2015 | 59 | 2015 |
| Defective Tmprss3-associated hair cell degeneration in inner ear organoids PC Tang, J Nie, J Lee, AA Roth, KT Booth, KR Koehler, E Hashino, ... Stem Cell Reports 13 (1), 147-162, 2019 | 58 | 2019 |
| CDC14A phosphatase is essential for hearing and male fertility in mouse and human A Imtiaz, IA Belyantseva, AJ Beirl, C Fenollar-Ferrer, R Bashir, I Bukhari, ... Human molecular genetics 27 (5), 780-798, 2018 | 56 | 2018 |
| Variants in CIB2 cause DFNB48 and not USH1J KT Booth, K Kahrizi, M Babanejad, H Daghagh, G Bademci, S Arzhangi, ... Clinical genetics 93 (4), 812-821, 2018 | 53 | 2018 |
| Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37 KT Booth, JW Askew, Z Talebizadeh, PLM Huygen, J Eudy, J Kenyon, ... Genetics in Medicine 21 (4), 948-954, 2019 | 47 | 2019 |
| Comprehensive genetic testing with ethnic‐specific filtering by allele frequency in a Japanese hearing‐loss population H Moteki, H Azaiez, KT Booth, AE Shearer, CM Sloan, DL Kolbe, S Nishio, ... Clinical genetics 89 (4), 466-472, 2016 | 42 | 2016 |
| Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic … H Moteki, H Azaiez, CM Sloan-Heggen, K Booth, S Nishio, K Wakui, ... Annals of otology, rhinology & laryngology 125 (11), 918-923, 2016 | 38 | 2016 |
| Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families K Lebeko, CM Sloan-Heggen, JJN Noubiap, C Dandara, DL Kolbe, ... Clinical genetics 90 (3), 288, 2016 | 38 | 2016 |
| Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment KT Booth, K Kahrizi, H Najmabadi, H Azaiez, RJH Smith Journal of medical genetics 55 (8), 555-560, 2018 | 36 | 2018 |
Hela AzaiezUniversity of IowaVerified email at uiowa.edu
