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Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. Nephrology, dialysis, transplantation, 39(9), pp. 1426-1441. Oxford University Press 10.1093/ndt/gfae074
Zaucke, Frank; Boehnlein, Joana M; Steffens, Sarah; Polishchuk, Roman S; Rampoldi, Luca; Fischer, Andreas; Pasch, Andreas; Boehm, Christoph W A; Baasner, Anne; Attanasio, Massimo; Hoppe, Bernd; Hopfer, Helmut; Beck, Bodo B; Sayer, John A; Hildebrandt, Friedhelm; Wolf, Matthias T F (2010). Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Human molecular genetics, 19(10), pp. 1985-97. Oxford: Oxford University Press 10.1093/hmg/ddq077
Helou, Juliana; Otto, Edgar A; Attanasio, Massimo; Allen, Susan J; Parisi, Melissa A; Glass, Ian; Utsch, Boris; Hashmi, Seema; Fazzi, Elisa; Omran, Heymut; O'Toole, John F; Sayer, John A; Hildebrandt, Friedhelm (2007). Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. Journal of medical genetics, 44(10), pp. 657-63. London: BMJ Publishing Group 10.1136/jmg.2007.052027
