A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis JN Feder, A Gnirke, W Thomas, Z Tsuchihashi, DA Ruddy, A Basava, ... Nature genetics 13 (4), 399-408, 1996 | 4663 | 1996 |
Branchio‐oto‐renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences EH Chang, M Menezes, NC Meyer, RA Cucci, VS Vervoort, CE Schwartz, ... Human mutation 23 (6), 582-589, 2004 | 277 | 2004 |
Human male infertility caused by mutations in the CATSPER1 channel protein MR Avenarius, MS Hildebrand, Y Zhang, NC Meyer, LLH Smith, K Kahrizi, ... The American Journal of Human Genetics 84 (4), 505-510, 2009 | 276 | 2009 |
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome F Bu, T Maga, NC Meyer, K Wang, CP Thomas, CM Nester, RJH Smith Journal of the American Society of Nephrology 25 (1), 55-64, 2014 | 262 | 2014 |
Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement S Sethi, FC Fervenza, Y Zhang, L Zand, NC Meyer, N Borsa, SH Nasr, ... Kidney international 83 (2), 293-299, 2013 | 228 | 2013 |
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 | 224 | 2012 |
Genetic male infertility and mutation of CATSPER ion channels MS Hildebrand, MR Avenarius, M Fellous, Y Zhang, NC Meyer, J Auer, ... European Journal of Human Genetics 18 (11), 1178-1184, 2010 | 184 | 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 |
Soluble CR1 therapy improves complement regulation in C3 glomerulopathy Y Zhang, CM Nester, DG Holanda, HC Marsh, RA Hammond, LJ Thomas, ... Journal of the American Society of Nephrology 24 (11), 1820-1829, 2013 | 121 | 2013 |
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 |
A 1.1-Mb transcript map of the hereditary hemochromatosis locus DA Ruddy, GS Kronmal, VK Lee, GA Mintier, L Quintana, R Domingo, ... Genome research 7 (5), 441-456, 1997 | 113 | 1997 |
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 | 111 | 2016 |
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 |
Genes other than TLR4 are involved in the response to inhaled LPS E Lorenz, M Jones, C Wohlford-Lenane, N Meyer, KL Frees, NC Arbour, ... American Journal of Physiology-Lung Cellular and Molecular Physiology 281 (5 …, 2001 | 105 | 2001 |
Defining the complement biomarker profile of C3 glomerulopathy Y Zhang, CM Nester, B Martin, MO Skjoedt, NC Meyer, D Shao, N Borsa, ... Clinical Journal of the American Society of Nephrology 9 (11), 1876-1882, 2014 | 101 | 2014 |
Purification of a maize dehydrin TL Ceccardi, NC Meyer, TJ Close Protein expression and purification 5 (3), 266-269, 1994 | 101 | 1994 |
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus W Chen, K Kahrizi, NC Meyer, Y Riazalhosseini, G Van Camp, ... Journal of medical genetics 42 (10), e61-e61, 2005 | 98 | 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 | 92 | 2011 |
Single‐nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis W Chen, NC Meyer, MJ McKenna, M Pfister, DJ McBride Jr, K Fukushima, ... Clinical genetics 71 (5), 406-414, 2007 | 87 | 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 |