Recent Publications

2015 

Blaum BS, Hannan JP, Herbert AP, Kavanagh D, Uhrin D, Stehle T. Structural basis for sialic acid-mediated self-recognition by complement factor H. Nature Chemical Biology 2015, 11(1), 77-82.

Licht C, Greenbaum LA, Muus P, Babu S, Bedrosian CL, Cohen D, Delmas Y, Douglas K, Furman R, Gaber O, Goodship T, Herthelius M, Hourmant M, Legendre C, Remuzzi G, Sheerin N, Trivelli A, Loirat C. Efficacy and Safety of Eculizumab in Atypical Hemolytic Uremic Syndrome: 2-year Results from Extensions of phase 2 studies. Kidney International 2015. In Press.

Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A. Evidence of digenic inheritance in Alport syndrome. J Med Genet. 2015, 52(3):163-74 

Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F. Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol. 2015, 26(3):543-51.

2014

Hunt D, Kavanagh D, Drummond I, Weller B, Bellamy C, Overell J, Evans S, Jackson A, Chandran S. Thrombotic Microangiopathy Associated with Interferon Beta. New England Journal of Medicine 2014, 370(13), 1270-1271.
Wong EKS, Anderson HE, Herbert AP, Challis RC, Brown P, Reis GS, Tellez JO, Strain L, Fluck N, Humphrey A, Macleod A, Richards A, Ahlert D, Santibanez-Koref M, Barlow PN, Marchbank KJ, Harris CL, Goodship THJ, Kavanagh D. Characterization of a Factor H Mutation That Perturbs the Alternative Pathway of Complement in a Family with Membranoproliferative GN. Journal of American Society of Nephrology 2014, 25(11), 2425-2433.
Chen Q, Wiesener M, Eberhardt HU, Hartmann A, Uzonyi B, Kirschfink M, Amann K, Buettner M, Goodship T, Hugo C, Skerka C, Zipfel PF. Complement factor H-related hybrid protein deregulates complement in dense deposit disease. Journal of Clinical Investigation 2014, 124(1), 145-155.

Hynes AM, Giles RH, Srivastava S, Eley L, Whitehead J, Danilenko M, Raman S,Slaats GG, Colville JG, Ajzenberg H, Kroes HY, Thelwall PE, Simmons NL, Miles CG, Sayer JA. Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. Proc Natl Acad Sci U S A. 2014, 111(27):9893-8.