Publications
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. Am J Hum Genet 97, 291-301 (2015).
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol 28, 2364-2376 (2017).
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Hum Mutat 41, 2179-2194 (2020).
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).