Publications

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Author Title [ Year(Desc)]
Filters: Author is Sanna-Cherchi, Simone and Keyword is Adult  [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
Besse, W. et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest 127, 1772-1785 (2017).
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).