selected publications
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academic article
- Long-term safety and efficacy of tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study.. The Lancet. Respiratory medicine. 9:733-746. 2021
- Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.. Journal of the American Society of Nephrology : JASN. :-. 2021
- Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. 2019
- The copy number variation landscape of congenital anomalies of the kidney and urinary tract. 2019
- Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.. The New England journal of medicine. 376:742-754. 2017
- Genomic imbalances in pediatric patients with chronic kidney disease.. The Journal of clinical investigation. 125:2171-2178. 2015