Publications

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Author Title [ Year(Desc)]
Filters: Author is Sanna-Cherchi, Simone and Keyword is Child  [Clear All Filters]
2013
Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).
2017
Lopez-Rivera, E. et al. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med 376, 742-754 (2017).
2020
Connaughton, D. M. et al. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet 107, 727-742 (2020).
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).