| GJB2 mutations and degree of hearing loss: a multicenter study RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ... The American Journal of Human Genetics 77 (6), 945-957, 2005 | 683 | 2005 |
| 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 | 507 | 2016 |
| Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate PA Jezewski, AR Vieira, C Nishimura, B Ludwig, M Johnson, SE O’brien, ... Journal of medical genetics 40 (6), 399-407, 2003 | 429 | 2003 |
| Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome TK Maga, CJ Nishimura, AE Weaver, KL Frees, RJH Smith Human mutation 31 (6), E1445-E1460, 2010 | 355 | 2010 |
| Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit … MA Abrera-Abeleda, C Nishimura, JLH Smith, S Sethi, JL McRae, ... Journal of medical genetics 43 (7), 582-589, 2006 | 252 | 2006 |
| 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 | 241 | 2018 |
| Causes of alternative pathway dysregulation in dense deposit disease Y Zhang, NC Meyer, K Wang, C Nishimura, K Frees, M Jones, LM Katz, ... Clinical Journal of the American Society of Nephrology 7 (2), 265-274, 2012 | 226 | 2012 |
| Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region RL Slayton, L Williams, JC Murray, JJ Wheeler, AC Lidral, CJ Nishimura The Cleft palate-craniofacial journal 40 (3), 274-279, 2003 | 195 | 2003 |
| 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 | 184 | 2014 |
| Association of specific language impairment (SLI) to the region of 7q31 EK O’Brien, X Zhang, C Nishimura, JB Tomblin, JC Murray The American Journal of Human Genetics 72 (6), 1536-1543, 2003 | 179 | 2003 |
| 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 | 145 | 2007 |
| Allelic variants of complement genes associated with dense deposit disease MA Abrera-Abeleda, C Nishimura, K Frees, M Jones, T Maga, LM Katz, ... Journal of the American Society of Nephrology 22 (8), 1551-1559, 2011 | 125 | 2011 |
| 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 | 112 | 2016 |
| GJB2 mutations: Passage through Iran H Najmabadi, C Nishimura, K Kahrizi, Y Riazalhosseini, M Malekpour, ... American Journal of Medical Genetics Part A 133 (2), 132-137, 2005 | 112 | 2005 |
| DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss MS Hildebrand, M Morín, NC Meyer, F Mayo, S Modamio‐Hoybjor, ... Human mutation 32 (7), 825-834, 2011 | 95 | 2011 |
| The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct C Madden, M Halsted, J Meinzen-Derr, D Bardo, M Boston, E Arjmand, ... Archives of Otolaryngology–Head & Neck Surgery 133 (2), 162-168, 2007 | 86 | 2007 |
| A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran M Babanejad, Z Fattahi, N Bazazzadegan, C Nishimura, N Meyer, ... American journal of medical genetics Part A 158 (10), 2485-2492, 2012 | 71 | 2012 |
| The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss—a twelve year study N Bazazzadegan, N Nikzat, Z Fattahi, C Nishimura, N Meyer, S Sahraian, ... International journal of pediatric otorhinolaryngology 76 (8), 1164-1174, 2012 | 63 | 2012 |
| 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 | 62 | 2018 |
| Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene N Hilgert, MJ Huentelman, AQ Thorburn, E Fransen, N Dieltjens, ... European journal of human genetics 17 (4), 517-524, 2009 | 62 | 2009 |
