Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C. Lionel, Peter N. Ray, Gregory Costain et al.|Genetics in Medicine|2017Cited by 563
Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancyOliver Groß, Manfred Weber, Christoph Licht et al.|Kidney International|2011Cited by 361
Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic SyndromePeter F. Zipfel, Christine Skerka, Matthew Edey et al.|PLoS Genetics|2007Cited by 324
Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II)Christoph Licht, Peter F. Zipfel, Mihály Józsi et al.|Kidney International|2006Cited by 203
Outrageous prices of orphan drugs: a call for collaborationLucio Luzzatto, Hanna I. Hyry, Arrigo Schieppati et al.|The Lancet|2018Cited by 160