The Pediatric Congenital Diarrhea and Enteropathies Consortium
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  • Home
  • About Us
  • Learn more
    • Consortium Centers
    • Participating In Research
    • Patient Information and Resources
    • CODE Disorders
    • FAQs
  • Research
    • Studies
    • Collaborating with PediCODE
    • Publications
  • Healthcare Professionals
    • Referring Patients
    • Pathology Info & Referral
    • Evaluation Guidelines
    • CODE Genes
  • CODE Atlas
  • Contact
  • Login

Selected Publications

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  • Publications

  • Luong P, Li Q, Chen PF, Wrighton PJ, Chang D, Dwyer S, Bayer MT, Snapper SB, Hansen SH, Thiagarajah JR, Goessling W, Lencer WI.. A quantitative single-cell assay for retrograde membrane traffic enables rapid detection of defects in cellular organization. 2020. Mol Biol Cell. 31, 511-519. PMC7202069
    PDFPUBMED
  • Nelms B, Dalomba NF, Lencer W.. A targeted RNAi screen identifies factors affecting diverse stages of receptor-mediated transcytosis. 2017. J Cell Biol. 216, 511-525. PMC5294788
    PDFPUBMED

  • LeBlanc C, Schlegel C, Robinson JR, Thomsen K, Goldenring JR, Acra S.. The Financial Burden of an Undiagnosed Congenital Diarrhea Disorder. 2020. J Pediatr Gastroenterol Nutr. 71, 145-146
    PDFPUBMED
  • Thiagarajah JR, Kamin DS, Acra S, Goldsmith JD, Roland JT, Lencer WI, Muise AM, Goldenring JR, Avitzur Y, Martín MG; PediCODE Consortium.. Advances in Evaluation of Chronic Diarrhea in Infants. 2018. Gastroenterology. 154, 2045-2059. PMC6044208
    PDFPUBMED

  • Crowley E, Warner N, Pan J, Khalouei S, Elkadri A, Fiedler K, Foong J, Turinsky AL, Bronte-Tinkew D, Zhang S, Hu J, Tian D, Li D, Horowitz J, Siddiqui I, Upton J, Roifman CM, Church PC, Wall DA, Ramani AK, Kotlarz D, Klein C, Uhlig H, Snapper SB, Gonzaga-Jauregui C, Paterson AD, McGovern DPB, Brudno M, Walters TD, Griffiths AM, Muise AM.. Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. 2020. Gastro. 58, 2208-2220.
    PDFPUBMED

  • Solorzano-Vargas RS, Bjerknes M, Wang J, Wu SV, Garcia-Careaga MG, Pitukcheewanont P, Cheng H, German MS, Georgia S, Martín MG.. Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus. 2020. JCI Insight. 5, e127657.. PMC7030873
    PDFPUBMED

  • Jardine S, Anderson S, Babcock S, Leung G, Pan J, Dhingani N, Warner N, Guo C, Siddiqui I, Kotlarz D, Dowling JJ, Melnyk RA, Snapper SB, Klein C, Thiagarajah JR, Muise AM.. Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency. 2020. Gastroenterology. 158, 1000-1015. PMC7062591
    PDFPUBMED
  • Jardine S, Dhingani N, Muise AM.. TTC7A: Steward of Intestinal Health. 2019. Cell Mol Gastroenterol Hepatol. 7, 555-570. PMC6406079
    PDFPUBMED

  • Engevik AC, Coutts AW, Kaji I, Rodriguez P, Ongaratto F, Saqui-Salces M, Medida RL, Meyer AR, Kolobova E, Engevik MA, Williams JA, Shub MD, Carlson DF, Melkamu T, Goldenring JR.. Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters. 2020. Gastroenterology. 158, 2236-2249. PMC7282982
    PDFPUBMED
  • Kaji I, Roland JT, Watanabe M, Engevik AC, Goldstein AE, Hodges CA, Goldenring JR.. Lysophosphatidic Acid Increases Maturation of Brush Borders and SGLT1 Activity in MYO5B-deficient Mice, a Model of Microvillus Inclusion Disease. 2020. Gastroenterology. 159, 1390-1405
    PDFPUBMED

  • O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB.. Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. 2018. Am J Hum Genet. 103, 131-137. PMC6035368
    PDFPUBMED

  • Chan AP, Namjoshi SS, Jardack PM, Maloney L, Ardjmand A, Jackson NN, Martin MG.. Long-Term Dietary Changes in Subjects with Glucose Galactose Malabsorption Secondary to Biallelic Mutations of SLC5A1. 2021. Dig Dis Sci
    PDFPUBMED

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