Markus J. Kemper

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf et al. · Journal of the American Society of Nephrology · 2014 · 637 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +19

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A. Sayer, Edgar A. Otto, John F. O’Toole et al. · Nature Genetics · 2006 · 572 citations

Transcription Factor Atf4, Transcriptional Regulation, Developmental Biology +10

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

Rainer Ruf, Pin‐Xian Xu, Derek Silvius et al. · Proceedings of the National Academy of Sciences · 2004 · 417 citations · Full text

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Jillian K. Warejko, Weizhen Tan, Ankana Daga et al. · Clinical Journal of the American Society of Nephrology · 2017 · 225 citations · Full text

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Daniela A. Braun, Carolin E. Sadowski, Stefan Kohl et al. · Nature Genetics · 2016 · 212 citations · Full text

Genetic Disorder, Genetics, Renal Pathology +5