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American Journal of Medical Genetics. Part A|May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrumKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.Kidney International|September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisAnkana Daga, Amar J Majmundar, Daniela A Braun, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 7, 2016
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohortMarcin Zaniew, Arend Bökenkamp, Marcin Kolbuc, et al.The New England Journal of Medicine|July 19, 2013
Mutations in DSTYK and dominant urinary tract malformationsSimone Sanna-Cherchi, Rosemary V Sampogna, Natalia Papeta, et al.American Journal of Human Genetics|November 20, 2012
Copy-number disorders are a common cause of congenital kidney malformationsSimone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E Burgess, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 19, 2019
Treatment and long-term outcome in primary distal renal tubular acidosisSergio Camilo Lopez-Garcia, Francesco Emma, Stephen B Walsh, et al.Journal of the American Society of Nephrology : JASN|February 18, 2021
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral RefluxMiguel Verbitsky, Priya Krithivasan, Ekaterina Batourina, et al.Journal of the American Society of Nephrology : JASN|March 30, 2023
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic DiagnosisDina F Ahram, Tze Y Lim, Juntao Ke, et al.The New England Journal of Medicine|January 26, 2017
Genetic Drivers of Kidney Defects in the DiGeorge SyndromeEsther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, et al.Nature Genetics|December 23, 2018
The copy number variation landscape of congenital anomalies of the kidney and urinary tractMiguel Verbitsky, Rik Westland, Alejandra Perez, et al.Pageof 9