@article{743305ca08244c03b56966e1edecb1db,
title = "Genetic basis of human congenital anomalies of the kidney and urinary tract",
abstract = "The clinical spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) encompasses a common birth defect in humans that has significant impact on long-term patient survival. Overall, data indicate that approximately 20% of patients may have a genetic disorder that is usually not detected based on standard clinical evaluation, implicating many different mutational mechanisms and pathogenic pathways. In particular, 10% to 15% of CAKUT patients harbor an unsuspected genomic disorder that increases risk of neurocognitive impairment and whose early recognition can impact clinical care. The emergence of high-throughput genomic technologies is expected to provide insight into the common and rare genetic determinants of diseases and offer opportunities for early diagnosis with genetic testing.",
author = "Simone Sanna-Cherchi and Rik Westland and Ghiggeri, {Gian Marco} and Gharavi, {Ali G.}",
note = "Funding Information: We want to apologize for all the important work of investigators that we were not able to cite in this review due to space restraints. We thank the three anonymous reviewers who commented on this work. This work was supported by the American Heart Association Grant-in-Aid 13GRNT14680075 (to SSC), by the Columbia CTSA Irving Institute/Clinical Trials Office pilot grant UL1 TR000040 (to SSC), by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) 1R21DK098531 (to SSC), the NIDDK 1R01DK103184 (to SSC), by the Italian Ministry of Health “Ricerca Finalizzata” (to SSC and GMG), by a Kolff postdoc abroad grant of the Dutch Kidney Foundation (to RW), by the Fondazione Malattie Renali nel Bambino (to GMG), by the NIDDK 1R01DK080099 (to AGG), and the NIDDK 3U54DK104309 (to AGG).",
year = "2018",
month = jan,
day = "2",
doi = "10.1172/JCI95300",
language = "English",
volume = "128",
pages = "4--15",
journal = "Journal of Clinical Investigation",
issn = "0021-9738",
publisher = "The American Society for Clinical Investigation",
number = "1",
}