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The American Journal of Pathology|March 27, 2017
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System AbnormalitiesJakub Sikora, Shaalee Dworski, E Ellen Jones, et al.American Journal of Human Genetics|August 12, 2009
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failureMartina Zivná, Helena Hůlková, Marie Matignon, et al.American Journal of Human Genetics|October 13, 2006
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)Martin Hrebícek, Lenka Mrázová, Volkan Seyrantepe, et al.Kidney International|December 14, 2023
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosisTereza Kmochová, Kendrah O Kidd, Andrew Orr, et al.Kidney International|August 5, 2020
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypesMartina Živná, Kendrah Kidd, Mohamad Zaidan, et al.Nature Communications|July 1, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activityAleš Hnízda, Beatriz Martinez-Delgado, Diana Sanchez-Ponce, et al.Pageof 7