Publications

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2017
Lopez-Rivera, E. et al. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med 376, 742-754 (2017).
2014
Westland, R. et al. Phenotypic expansion of DGKE-associated diseases. J Am Soc Nephrol 25, 1408-14 (2014).
2013
Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).