| Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29 ER Wilcox, QL Burton, S Naz, S Riazuddin, TN Smith, B Ploplis, ... Cell 104 (1), 165-172, 2001 | 567 | 2001 |
| Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function K Kurima, LM Peters, Y Yang, S Riazuddin, ZM Ahmed, S Naz, D Arnaud, ... Nature genetics 30 (3), 277-284, 2002 | 487 | 2002 |
| Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness HJ Park, S Shaukat, XZ Liu, SH Hahn, S Naz, M Ghosh, HN Kim, SK Moon, ... Journal of medical genetics 40 (4), 242-248, 2003 | 411 | 2003 |
| Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia IA Belyantseva, ET Boger, S Naz, GI Frolenkov, JR Sellers, ZM Ahmed, ... Nature cell biology 7 (2), 148-156, 2005 | 375 | 2005 |
| Dominant modifier DFNM1 suppresses recessive deafness DFNB26 S Riazuddin, CM Castelein, ZM Ahmed, AK Lalwani, MA Mastroianni, ... Nature genetics 26 (4), 431-434, 2000 | 172 | 2000 |
| Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction S Naz, AJ Griffith, S Riazuddin, LL Hampton, JF Battey, SN Khan, ... Journal of medical genetics 41 (8), 591-595, 2004 | 166 | 2004 |
| Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus S Naz, CM Giguere, DC Kohrman, KL Mitchem, S Riazuddin, RJ Morell, ... The American Journal of Human Genetics 71 (3), 632-636, 2002 | 164 | 2002 |
| Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis … N Liburd, M Ghosh, S Riazuddin, S Naz, S Khan, Z Ahmed, S Riazuddin, ... Human genetics 109, 535-541, 2001 | 153 | 2001 |
| Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness S Riazuddin, SN Khan, ZM Ahmed, M Ghosh, K Caution, S Nazli, M Kabra, ... The American Journal of Human Genetics 78 (1), 137-143, 2006 | 130 | 2006 |
| Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness T Ben-Yosef, M Wattenhofer, S Riazuddin, ZM Ahmed, HS Scott, J Kudoh, ... Journal of medical genetics 38 (6), 396-400, 2001 | 74 | 2001 |
| Distinctive audiometric profile associated with DFNB21 alleles of TECTA S Naz, F Alasti, A Mowjoodi, S Riazuddin, MH Sanati, TB Friedman, ... Journal of medical genetics 40 (5), 360-363, 2003 | 73 | 2003 |
| 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 | 59 | 2018 |
| Genetic causes of moderate to severe hearing loss point to modifiers S Naz, A Imtiaz, G Mujtaba, A Maqsood, R Bashir, I Bukhari, MR Khan, ... Clinical genetics 91 (4), 589-598, 2017 | 57 | 2017 |
| A Frameshift Mutation in GRXCR2 Causes Recessively Inherited Hearing Loss A Imtiaz, DC Kohrman, S Naz Human mutation 35 (5), 618-624, 2014 | 53 | 2014 |
| A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss G Mujtaba, JM Schultz, A Imtiaz, RJ Morell, TB Friedman, S Naz Journal of medical genetics 52 (8), 548-552, 2015 | 46 | 2015 |
| Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss R Bashir, A Fatima, S Naz European journal of medical genetics 55 (2), 99-102, 2012 | 44 | 2012 |
| Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation S Doss, K Lohmann, P Seibler, B Arns, T Klopstock, C Zühlke, K Freimann, ... Journal of neurology 261, 207-212, 2014 | 43 | 2014 |
| A deletion mutation in SANS results in atypical Usher syndrome R Bashir, A Fatima, S Naz Clinical genetics 78 (6), 601, 2010 | 37 | 2010 |
| Recessive mutations of TMC1 associated with moderate to severe hearing loss A Imtiaz, A Maqsood, AU Rehman, RJ Morell, JR Holt, TB Friedman, ... Neurogenetics 17, 115-123, 2016 | 32 | 2016 |
| New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder R Faridi, A Rea, C Fenollar-Ferrer, RT O’Keefe, S Gu, Z Munir, AA Khan, ... Human Genetics 141 (3), 805-819, 2022 | 29 | 2022 |
