Division of Nephrology

Sanna-Cherchi Lab

ENVISIONING SCIENCE-BASED PRECISION MEDICINE THROUGH GENE DISCOVERY AND FUNCTIONAL MODELING

Publications

Recent Papers:

Gupta, et al.Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.” Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9

Other Selected Work:

Sanna-Cherchi, et al.Genetic basis of human congenital anomalies of the kidney and urinary tract.”  J Clin Invest. 2018 Jan 2;128(1):4-15

Sanna-Cherchi, et al. “Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.”  Am J Hum Genet. 2017 Nov 2;101(5):789-802

Lopez-Rivera, et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.”  N Engl J Med. 2017 Feb 23;376(8):742-754

Sanna-Cherchi, et al. “Mutations in DSTYK and dominant urinary tract malformations.”  N Engl J Med. 2013 Aug 15;369(7):621-9

Sanna-Cherchi, et al. “Copy-number disorders are a common cause of congenital kidney malformations.”  Am J Hum Genet. 2012 Dec 7;91(6):987-9

See a complete list of publications in Pubmed.

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