DeborahRSteinMD

PubMed

• Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives.
  Joseph, M., Stein, D., Stein, A.> ;Pediatric Nephrology. 2024 Feb 23
• 2 citations
  Congenital Anomalies of the Kidneys and Urinary Tract.
  Deborah Stein, Erin McNamara> ;Clinics in Perinatology. 2022 Sep 1
• 10 citations
  Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
  Steve Seltzsam, Chunyan Wang, Bixia Zheng, Nina Mann, Dervla M. Connaughton, Chen-Han Wilfred Wu, Sophia Schneider, Luca Schierbaum, Franziska Kause, Caroline M. Kolve...> ;Genetics in Medicine. 2021 Nov 30
• 16 citations
  Late-onset kidney failure in survivors of childhood cancer: a report from the Childhood Cancer Survivor Study.
  Bryan V. Dieffenbach, Qi Liu, Andrew J. Murphy, Deborah R. Stein, Natalie Wu, Arin L. Madenci, Wendy M. Leisenring, Nina S. Kadan-Lottick, Emily R. Christison-Lagay, R...> ;European Journal of Cancer. 2021 Sep 1
• 7 citations
  Surgical management of pediatric renovascular hypertension and midaortic syndrome at a single-center multidisciplinary program
  Stephanie S. Kim, Deborah R. Stein, Michael A. J. Ferguson, Diego Porras, Gulraiz Chaudry, Michael N. Singh, Leslie B. Smoot, Heung Bae Kim, Khashayar Vakili> ;Journal of Vascular Surgery. 2021 Jul 1
• 16 citations
  Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
  Dervla M. Connaughton, Rufeng Dai, Danielle J. Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Etienne Coyaud, Estelle M.N. Laurent, Jonatha...> ;American Journal of Human Genetics. 2020 Oct 1
• 18 citations
  Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
  Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, Dervla M. Connaughton, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Chunyan Wang, Verena Klä...> ;Genetics in Medicine. 2020 Jun 1
• 3 citations
  Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.
  Grace E. VanNoy, Monica H. Wojcik, Casie A. Genetti, Thomas E. Mullen, Pankaj B. Agrawal, Deborah R. Stein> ;Kidney International Reports. 2020 May 23
• 6 citations
  Prospective pediatric study comparing glomerular filtration rate estimates based on motion-robust dynamic contrast-enhanced magnetic resonance imaging and serum creati...
  Sila Kurugol, Onur Afacan, Richard S Lee, Catherine M Seager, Michael A Ferguson, Deborah R Stein, Reid C Nichols, Monet Dugan, Alto Stemmer, Simon K Warfield, Jeanne ...> ;Pediatric Radiology. 2020 May 1
• Correction to: Prospective pediatric study comparing glomerular filtration rate estimates based on motion-robust dynamic contrast-enhanced magnetic resonance imaging a...
  Sila Kurugol, Onur Afacan, Richard S. Lee, Catherine Seager, Michael A. J. Ferguson, Deborah R. Stein, Reid C. Nichols, Monet Dugan, Alto Stemmer, Simon K. Warfield, J...> ;Pediatric Radiology. 2020 Jan 1
• 10 citations
  Renal outcomes of neonates with early presentation of posterior urethral valves: a 10-year single center experience.
  Madeline Coquillette, Richard S. Lee, Sarah E. Pagni, Sule Cataltepe, Deborah R. Stein> ;Journal of Perinatology. 2020 Jan 1
• 4 citations
  A Case Report of Takayasu's Arteritis and Ulcerative Colitis in a Pediatric Patient with Chronic Recurrent Multifocal Osteomyelitis Successfully Treated with Inflixima...
  Viveka Clare De Guerra, Humaira Hashmi, Bree Kramer, Rula Balluz, Mary Beth F. Son, Deborah R. Stein, Alicia Lieberman, Mahmoud Zahra, Rabheh Abdul-Aziz> ;Case Reports in Rheumatology. 2019 Jun 11
• 78 citations
  Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
  Nina Mann, Daniela A. Braun, Kassaundra Amann, Weizhen Tan, Shirlee Shril, Dervla M. Connaughton, Makiko Nakayama, Ronen Schneider, Thomas M. Kitzler, Amelie T. van de...> ;Journal of the American Society of Nephrology. 2019 Feb 1
• 112 citations
  Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
  Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, Nina Mann, Makiko Nakayama, Jing Chen, Asaf Vivante, Daw-Yang Hwang, Julian Schulz, Daniela A. Braun, Johann...> ;Journal of the American Society of Nephrology. 2018 Sep 1
• Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox
  Nina B. Gold, Jennifer Blumenthal, Ann Wessel, Deborah R. Stein, Adam Scott, Victor L. Fox, Amy Turner, Amy Kritzer, Farrah Rajabi, Katherine R. Peeler, Wen-Hann Tan> ;The Journal of Pediatrics. 2018 Jul 1
• 4 citations
  Teaching Pediatric Peritoneal Dialysis Globally through Virtual Simulation
  Aleksandra E. Olszewski, Dennis Daniel, Deborah R. Stein, Mignon McCulloch, Sharon W. Su, Daniel L. Hames, Traci A. Wolbrink> ;Clinical Journal of the American Society of Nephrology. 2018 Jun 7
• 9 citations
  Tissue expander-stimulated lengthening of arteries for the treatment of midaortic syndrome in children
  Heung Bae Kim, Khashayar Vakili, Gabriel Ramos-Gonzalez, Deborah R. Stein, Michael A. J. Ferguson, Diego Porras, James E. Lock, Gulraiz Chaudry, Ahmad I. Alomari, Stev...> ;Journal of Vascular Surgery. 2018 Jun 1
• 9 citations
  Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
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• 26 citations
  Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
  Weizhen Tan, Svjetlana Lovric, Shazia Ashraf, Jia Rao, David Schapiro, Merlin Airik, Shirlee Shril, Heon Yung Gee, Michelle A. Baum, Ghaleb Daouk, Michael A. J. Fergus...> ;Pediatric Nephrology. 2018 Feb 1
• 110 citations
  Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
  Ankana Daga, Amar J. Majmundar, Daniela A. Braun, Heon Yung Gee, Jennifer A. Lawson, Shirlee Shril, Tilman Jobst-Schwan, Asaf Vivante, David Schapiro, Weizhen Tan, Jil...> ;Kidney International. 2018 Jan 1
• 130 citations
  Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
  Jillian K. Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A. Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias Hermle, Tilman Jobst-...> ;Clinical Journal of the American Society of Nephrology. 2018 Jan 6
• 8 citations
  Mesenteric Artery Growth Improves Circulation (MAGIC) in Midaortic Syndrome.
  Heung Bae Kim, Eliza Lee, Khashayar Vakili, Deborah R. Stein, Michael A. J. Ferguson, Diego Porras, James E. Lock, Francis Fynn-Thompson, Steven J. Fishman> ;Annals of Surgery. 2017 Nov 1
• 37 citations
  Mutations in SLC26A1 Cause Nephrolithiasis
  Heon Yung Gee, Ikhyun Jun, Daniela A. Braun, Jennifer A. Lawson, Jan Halbritter, Shirlee Shril, Caleb P. Nelson, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael...> ;American Journal of Human Genetics. 2016 Jun 2
• 90 citations
  Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
  Daniela A. Braun, Jennifer A. Lawson, Heon Yung Gee, Jan Halbritter, Shirlee Shril, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. J. Ferguson, Zoran Gucev,...> ;Clinical Journal of the American Society of Nephrology. 2016 Apr 7
• 13 citations
  Evaluation and treatment of hypertensive crises in children
  Deborah R. Stein, Michael A. J. Ferguson> ;Integrated Blood Pressure Control. 2016 Mar 16
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Journal Articles

• Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract  
  Deborah R Stein, Friedhelm Hildebrandt, Richard P Lifton, Amar J Majmundar, Nina Mann, Jillian K Warejko, Michelle A Baum, Asaf Vivante, Nancy M Rodig, Jing Chen, Mich..., Journal of the American Society of Nephrology