Publications

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2021
Weng, P. L. et al. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet 108, 357-367 (2021).
Klämbt, V. et al. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep 6, 460-471 (2021).
Klämbt, V. et al. Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Nephrol Dial Transplant 36, 237-246 (2021).
2020
Schneider, R. et al. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet 107, 1113-1128 (2020).