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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
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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
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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.
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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
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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
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Andreanna Burman∗, Michael Momoh∗, Leesa Sampson, Jennifer Skelton, Joseph T. Roland, Cynthia Ramos, Evan Krystofiak, Sari Acra, James R. Goldenring, Izumi Kaji. Modeling of a novel patient-based MYO5B point mutation reveals insights into MVID pathogenesis.. 2022. Cellular and Molecular Gastroenteroly Hepatology. 15, 1022-1026. 36592862
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Amy C. Engevik, Evan S. Krystofiak, Izumi Kaji, Anne R. Meyer, Victoria G. Weis, Anna Goldstein, Alexander W. Coutts, Tamene Melkamu, Milena Saqui-Salces, James R. Goldenring. Recruitment of Polarity Complexes and Tight Junction Proteins to the Site of Apical Bulk Endocytosis. 2021. Cellular and Molecular Gastroenteroly Hepatology. 12, 59-80. PMC8082271
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Michael W. Hess, Iris M. Krainer, Przemyslaw A. Filipek, Barbara Witting, Karin Gutleben, Ilja Vietor, Heinz Zoller, Denise Aldrian, Ekkehard Sturm, James R. Goldenring, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Georg F. Vogel. Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations.. 2021. Journal of Clinical Medicine. 10. PMC8125609
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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
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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
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Pathak SJ, Mueller JL, Okamoto K, Das B, Hertecant J, Greenhalgh L, Cole T, Pinsk V, Yerushalmi B, Gurkan OE, Yourshaw M, Hernandez E, Oesterreicher S, Naik S, Sanderson IR, Axelsson I, Agardh D, Boland CR, Martin MG, Putnam CD, Sivagnanam M. . EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. 2019. Human Mutation. 40, 142-161. PMC6328345