| COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis LB Watkin, B Jessen, W Wiszniewski, TJ Vece, M Jan, Y Sha, M Thamsen, ... Nature genetics 47 (6), 654-660, 2015 | 363 | 2015 |
| Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48 S Riazuddin, IA Belyantseva, APJ Giese, K Lee, AA Indzhykulian, ... Nature genetics 44 (11), 1265-1271, 2012 | 260 | 2012 |
| 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 | 243 | 2013 |
| A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism PBS Celestino-Soper, S Violante, EL Crawford, R Luo, AC Lionel, ... Proceedings of the National Academy of Sciences 109 (21), 7974-7981, 2012 | 155 | 2012 |
| Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35 RWJ Collin, E Kalay, M Tariq, T Peters, B van der Zwaag, H Venselaar, ... The American Journal of Human Genetics 82 (1), 125-138, 2008 | 136 | 2008 |
| Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32 M Gajecka, U Radhakrishna, D Winters, SK Nath, M Rydzanicz, ... Investigative ophthalmology & visual science 50 (4), 1531-1539, 2009 | 133 | 2009 |
| The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition SN Tomson, N Avidan, K Lee, AK Sarma, R Tushe, DM Milewicz, M Bray, ... Behavioural brain research 223 (1), 48-52, 2011 | 131 | 2011 |
| 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 | 131 | 2011 |
| Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89 RLP Santos-Cortez, K Lee, Z Azeem, PJ Antonellis, LM Pollock, S Khan, ... The American Journal of Human Genetics 93 (1), 132-140, 2013 | 126 | 2013 |
| Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39 JM Schultz, SN Khan, ZM Ahmed, S Riazuddin, AM Waryah, D Chhatre, ... The American Journal of Human Genetics 85 (1), 25-39, 2009 | 125 | 2009 |
| 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 | 120 | 2011 |
| Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome) KL McBride, GA Zender, SM Fitzgerald-Butt, D Koehler, A Menesses-Diaz, ... European journal of human genetics 17 (6), 811-819, 2009 | 110 | 2009 |
| 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 | 98 | 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 | 90 | 2016 |
| Mutation of ATF6 causes autosomal recessive achromatopsia M Ansar, RLP Santos-Cortez, MAN Saqib, F Zulfiqar, K Lee, NM Ashraf, ... Human Genetics 134, 941-950, 2015 | 84 | 2015 |
| Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment M Schraders, K Lee, J Oostrik, PLM Huygen, G Ali, LH Hoefsloot, ... The American Journal of Human Genetics 86 (2), 138-147, 2010 | 75 | 2010 |
| A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type M Naeem, M Wajid, K Lee, SM Leal, W Ahmad Journal of medical genetics 43 (3), 274-279, 2006 | 72 | 2006 |
| Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment RLP Santos, M Wajid, MN Khan, N McArthur, TL Pham, A Bhatti, K Lee, ... Human mutation 26 (4), 396-396, 2005 | 72 | 2005 |
| LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections D Guo, ES Regalado, A Pinard, J Chen, K Lee, C Rigelsky, L Zilberberg, ... The American Journal of Human Genetics 102 (4), 706-712, 2018 | 67 | 2018 |
| Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability RLP Santos-Cortez, V Khan, FS Khan, ZN Mughal, I Chakchouk, K Lee, ... Human genetics 137, 735-752, 2018 | 65 | 2018 |