Deborah R. Stein

Publications

1. Beyond Childhood: The Lifelong Kidney Risks for Children with Posterior Urethral Valves. J Am Soc Nephrol. 2024 Dec 01; 35(12):1633-1635. View Abstract
2. Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives. Pediatr Nephrol. 2024 Oct; 39(10):2845-2860. View Abstract
3. Congenital Anomalies of the Kidneys and Urinary Tract. Clin Perinatol. 2022 09; 49(3):791-798. View Abstract
4. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 02; 24(2):307-318. View Abstract
5. Late-onset kidney failure in survivors of childhood cancer: a report from the Childhood Cancer Survivor Study. Eur J Cancer. 2021 09; 155:216-226. View Abstract
6. Surgical management of pediatric renovascular hypertension and midaortic syndrome at a single-center multidisciplinary program. J Vasc Surg. 2021 07; 74(1):79-89.e2. View Abstract
7. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742. View Abstract
8. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genet Med. 2020 10; 22(10):1673-1681. View Abstract
9. Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. Kidney Int Rep. 2020 Aug; 5(8):1316-1319. View Abstract
10. Correction to: Prospective pediatric study comparing glomerular filtration rate estimates based on motion-robust dynamic contrast-enhanced magnetic resonance imaging and serum creatinine (eGFR) to 99mTc DTPA. Pediatr Radiol. 2020 May; 50(5):755-756. View Abstract
11. Prospective pediatric study comparing glomerular filtration rate estimates based on motion-robust dynamic contrast-enhanced magnetic resonance imaging and serum creatinine (eGFR) to 99mTc DTPA. Pediatr Radiol. 2020 05; 50(5):698-705. View Abstract
12. Renal outcomes of neonates with early presentation of posterior urethral valves: a 10-year single center experience. J Perinatol. 2020 01; 40(1):112-117. View Abstract
13. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 02; 30(2):201-215. View Abstract
14. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018 09; 29(9):2348-2361. View Abstract
15. Mesenteric Artery Growth Improves Circulation (MAGIC) in Midaortic Syndrome. Ann Surg. 2018 06; 267(6):e109-e111. View Abstract
16. Teaching Pediatric Peritoneal Dialysis Globally through Virtual Simulation. Clin J Am Soc Nephrol. 2018 06 07; 13(6):900-906. View Abstract
17. Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. J Pediatr. 2018 07; 198:313-316. View Abstract
18. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ˜43% of 35 Families With Midaortic Syndrome. Hypertension. 2018 04; 71(4):691-699. View Abstract
19. Tissue expander-stimulated lengthening of arteries for the treatment of midaortic syndrome in children. J Vasc Surg. 2018 06; 67(6):1664-1672. View Abstract
20. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2018 01 06; 13(1):53-62. View Abstract
21. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018 01; 93(1):204-213. View Abstract
22. Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. Pediatr Nephrol. 2018 02; 33(2):305-314. View Abstract
23. Evaluation and treatment of hypertensive crises in children. Integr Blood Press Control. 2016; 9:49-58. View Abstract
24. Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system). J Pediatr Urol. 2014 Dec; 10(6):982-98. View Abstract
25. Midaortic syndrome: 30 years of experience with medical, endovascular and surgical management. Pediatr Nephrol. 2013 Oct; 28(10):2023-33. View Abstract
26. Vitamin D status in children with chronic kidney disease. Pediatr Nephrol. 2012 Aug; 27(8):1341-50. View Abstract
27. Enhancing vapor sensor discrimination by mimicking a canine nasal cavity flow environment. J Am Chem Soc. 2003 Apr 02; 125(13):3684-5. View Abstract
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