2013

Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S. Rare variants in CFI, C3 and C9 are associated with high risk of advancedage-related macular degeneration. Nature Genetics 2013, 45, 1366-1370.

Legendre CM, Licht C, Muus P, Greenbaum LA, Babu S, Bedrosian C, Bingham C, Cohen DJ, Delmas Y, Douglas K, Eitner F, Feldkamp T, Fouque D, Furman RR, Gaber O, Herthelius M, Hourmant M, Karpman D, Lebranchu Y, Mariat C, Menne J, Moulin B, Nürnberger J, Ogawa M, Remuzzi G, Richard T, Sberro-Soussan R, Severino B, Sheerin NS, Trivelli A, Zimmerhackl LB, Goodship T, Loirat C. Terminal Complement Inhibitor Eculizumab in Atypical Hemolytic–Uremic Syndrome. New England Journal of Medicine 2013, 368(23), 2169-2181

Bresin E, Rurali E, Caprioli J, Sanchez-Corral P, Fremeaux-Bacchi V, de Cordoba SR, Pinto S, Goodship THJ, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M, European Working Party Complement. Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype. Journal of the American Society of Nephrology 2013, 24(3), 475-486.

Srivastava S, Li D, Edwards N, Hynes AM, Wood K, Al-Hamed M, Wroe AC, Reaich D, Moochhala SH, Welling PA, Sayer JA. Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity. Physiol Rep. 2013 Nov;1(6):e00160.