Hughes AE, Orr N, Cordell HJ, Goodship T. Associations of CFHR1-CFHR3 deletion and a CFH snp to age-related macular degeneration are not independent reply. Nature Genetics 2010, 42(7), 555-556.
Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Staniforth SJ, Holmes LV, Ward R, Morgan L, Goodship THJ, Marchbank KJ. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood 2010, 115(2), 379-387.
Goodship THJ, Kavanagh D. Pulling the Trigger in Atypical Hemolytic Uremic Syndrome: The Role of Pregnancy. Journal of the American Society of Nephrology 2010, 21(5), 731-732.
Cordell HJ, Darlay R, Charoen P, Stewart A, Gullett AM, Lambert HJ, Malcolm S, Feather SA, Goodship THJ, Woolf AS, Kenda RB, Goodship JA, UK VUR Study Grp. Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux. Journal of the American Society of Nephrology 2010, 21(1), 113-123.
O'Toole JF, Liu YJ, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Karppa M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou WB, Wolf MTF, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson P, Khanna H, Katsanis N, Hildebrandt F. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. Journal of Clinical Investigation 2010, 120(3), 791-802
Saland J, Ruggenenti P, Remuzzi G, Bekassy Z, Bensman A, Bresin E, Colledan M, Camilla R, Coppo R, Cruzado-Garrit J, Daina E, Fremeaux-Bacchi V, Goodship T, Gridelli B, Hugo C, Karpman D, Jalanko H, Loirat C, Hijosa M, McKiernan P, Noris M, De Cordoba S, Rota G, Sanchez-Corral P, Skerka C, Tartufari A, Zipfel P. Liver-kidney transplantation to cure atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 2009, 20(5), 940-949.
Fang CJ, Fremeaux-Bacchi V, Liszewski MK, Pianetti G, Noris M, Goodship THJ, Atkinson JP. Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. Blood 2008, 111(2), 624-632.
Martinez-Barricarte R, Pianetti G, Gautard R, Misselwitz J, Strain L, Frémeaux-Bacchi V, Skerka C, Zipfel PF, Goodship THJ, Noris M, Remuzzi G, De Cordoba SR. The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 2008, 19(3), 639-646.
Richards A, van den Maagdenberg A, Jen J, Kavanagh D, Bertram P, Spitzer D, Liszewski K, Barilla-LaBarca M, Terwindt G, Kasai Y, McLellan M, Grand M, Vanmolkot K, de Vries B, Wan J, Kane M, Mamsa H, Schafer R, Stam A, Haan J, de Jong P, Storimans C, van Schooneveld M, Oosterhuis J, Gschwendter A, Dichgans M, Kotschet K, Hodgkinson S, Hardy T, Delatycki M, Hajj-Ali R, Kothari P, Nelson S, Frants R, Baloh R, Ferrari M, Atkinson JP. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nature Genetics 2007, 39(9), 1068-1070.
Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics 2006, 38(6), 674-681.
Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nature Genetics 2006, 38(10), 1173-1177.
Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 2006, 108(4), 1267-1279.
Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, Pourrat J, Seligman R, Fridman WH, Loirat C, Atkinson JP. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 2006, 17(7), 2017-2025.
Kavanagh D, Kemp EJ, Mayland E, Winney RJ, Duffield JS, Warwick G, Richards A, Ward R, Goodship JA, Goodship THJ. Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 2005, 16(7), 2150-2155.