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The Journal of Clinical Investigation|September 13, 2019
Loss-of-function variants in myocardin cause congenital megabladder in humans and miceArjan C Houweling, Glenda M Beaman, Alex V Postma, et al.
Cell Reports|June 19, 2026
Osr1-expressing mesoderm contributes to lymphatic vessel assembly and complexity in the mammalian kidneyDaniyal J Jafree, Lauren G Russell, Athanasia Stathopoulou, et al.
Nature Genetics|September 27, 2016
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neuronsXavier Caubit, Paolo Gubellini, Joris Andrieux, et al.
Kidney International|June 18, 2004
Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneitySongshan Jiang, Jordan Gitlin, Fang-Ming Deng, et al.
American Journal of Human Genetics|March 16, 2007
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral refluxWeining Lu, Albertien M van Eerde, Xueping Fan, et al.
American Journal of Human Genetics|January 15, 2013
LRIG2 mutations cause urofacial syndromeHelen M Stuart, Neil A Roberts, Berk Burgu, et al.
European Heart Journal|November 18, 2020
Hypertension and renin-angiotensin system blockers are not associated with expression of angiotensin-converting enzyme 2 (ACE2) in the kidneyXiao Jiang, James M Eales, David Scannali, et al.
Disease Models & Mechanisms|March 21, 2025
Microvascular aberrations found in human polycystic kidneys are an early feature in a Pkd1 mutant mouse modelDaniyal J Jafree, Charith Perera, Mary Ball, et al.
The Journal of Clinical Investigation|July 15, 2025
Organ-specific features of human kidney lymphatics are disrupted in chronic transplant rejectionDaniyal J Jafree, Benjamin J Stewart, Karen L Price, et al.
Nature Communications|March 20, 2024
Genetic imputation of kidney transcriptome, proteome and multi-omics illuminates new blood pressure and hypertension targetsXiaoguang Xu, Chachrit Khunsriraksakul, James M Eales, et al.
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