| Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease EM Jenkinson, AU Rehman, T Walsh, J Clayton-Smith, K Lee, RJ Morell, ... The American Journal of Human Genetics 92 (4), 605-613, 2013 | 231 | 2013 |
| Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79 AU Rehman, RJ Morell, IA Belyantseva, SY Khan, ET Boger, M Shahzad, ... The American Journal of Human Genetics 86 (3), 378-388, 2010 | 226 | 2010 |
| Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42 G Borck, AU Rehman, K Lee, HM Pogoda, N Kakar, S Von Ameln, ... The American Journal of Human Genetics 88 (2), 127-137, 2011 | 130 | 2011 |
| Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74 ZM Ahmed, R Yousaf, BC Lee, SN Khan, S Lee, K Lee, T Husnain, ... The American Journal of Human Genetics 88 (1), 19-29, 2011 | 116 | 2011 |
| Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86 AU Rehman, RLP Santos-Cortez, RJ Morell, MC Drummond, T Ito, K Lee, ... The American Journal of Human Genetics 94 (1), 144-152, 2014 | 96 | 2014 |
| Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness AU Rehman, JE Bird, R Faridi, M Shahzad, S Shah, K Lee, SN Khan, ... Human mutation 37 (10), 991-1003, 2016 | 86 | 2016 |
| Defects in the alternative splicing-dependent regulation of REST cause deafness Y Nakano, MC Kelly, AU Rehman, ET Boger, RJ Morell, MW Kelley, ... Cell 174 (3), 536-548. e21, 2018 | 70 | 2018 |
| Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection W Zhou, Y He, AU Rehman, Y Kong, S Hong, G Ding, HK Yalamanchili, ... Nature neuroscience 22 (2), 205-217, 2019 | 62 | 2019 |
| Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss EM Richard, RLP Santos‐Cortez, R Faridi, AU Rehman, K Lee, ... Human mutation 40 (1), 53-72, 2019 | 60 | 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 |
| Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p AU Rehman, K Gul, RJ Morell, K Lee, ZM Ahmed, S Riazuddin, RA Ali, ... Human genetics 130 (6), 759-765, 2011 | 55 | 2011 |
| 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 | 53 | 2017 |
| Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome R Faridi, AU Rehman, RJ Morell, PL Friedman, L Demain, S Zahra, ... Clinical genetics 91 (2), 328-332, 2017 | 53 | 2017 |
| Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2 RLP Santos-Cortez, R Faridi, AU Rehman, K Lee, M Ansar, X Wang, ... The American Journal of Human Genetics 98 (2), 331-338, 2016 | 52 | 2016 |
| Challenges and solutions for gene identification in the presence of familial locus heterogeneity AU Rehman, RLP Santos-Cortez, MC Drummond, M Shahzad, K Lee, ... European Journal of Human Genetics 23 (9), 1207-1215, 2015 | 42 | 2015 |
| Unresolved questions regarding human hereditary deafness AU Rehman, TB Friedman, AJ Griffith Oral diseases 23 (5), 551-558, 2017 | 34 | 2017 |
| TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing T Katsuno, IA Belyantseva, AX Cartagena-Rivera, K Ohta, SM Crump, ... JCI insight 4 (12), 2019 | 33 | 2019 |
| Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome R Faridi, R Tona, A Brofferio, M Hoa, R Olszewski, I Schrauwen, ... Human mutation 40 (2), 162-176, 2019 | 33 | 2019 |
| 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 (2), 115-123, 2016 | 31 | 2016 |
| Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function AU Rehman, M Najafi, M Kambouris, L Al‐Gazali, P Makrythanasis, A Rad, ... Human mutation 40 (3), 267-280, 2019 | 28 | 2019 |
Thomas B. FriedmanNIDCD?NIHVerified email at nidcd.nih.gov
