Biblio

Author Title [ Type(Desc)] Year
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Journal Article
Collen LV, Kim DY, Field M, Okoroafor I, Saccocia G, Whitcomb SDriscoll, Green J, Dong MDao, Barends J, Carey B, et al. Clinical Phenotypes and Outcomes in Monogenic versus Non-Monogenic Very Early Onset Inflammatory Bowel Disease. J Crohns Colitis. 2022.
Uhlig HH, Schwerd T, Koletzko S, Shah N, Kammermeier J, Elkadri A, Ouahed J, Wilson DC, Travis SP, Turner D, et al. The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease. Gastroenterology. 2014.
Jardine S, Anderson S, Babcock S, Leung G, Pan J, Dhingani N, Warner N, Guo C, Siddiqui I, Kotlarz D, et al. Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency. Gastroenterology. 2019.
Goettel JA, Biswas S, Lexmond WS, Yeste A, Passerini L, Patel B, Yang S, Sun J, Ouahed J, Shouval DS, et al. Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood. 2015.
Li Y, Yu Z, Schenk M, Lagovsky I, Illig D, Walz C, Rohlfs M, Conca R, Muise AM, Snapper SB, et al. Human MD2 deficiency-an inborn error of immunity with pleiotropic features. J Allergy Clin Immunol. 2022.
Yao Y, Kim G, Shafer S, Chen Z, Kubo S, Ji Y, Luo J, Yang W, Perner SP, Kanellopoulou C, et al. Mucus sialylation determines intestinal host-commensal homeostasis. Cell. 2022.
Labrosse R, Chu J, Armant M, Everett JK, Pellin D, Kareddy N, Frelinger AL, Henderson LA, O'Connell AE, Biswas A, et al. Outcomes of Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome. Blood. 2023.
Uhlig HH, Booth C, Cho J, Dubinsky M, Griffiths AM, Grimbacher B, Hambleton S, Huang Y, Jones K, Kammermeier J, et al. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards. Nat Rev Gastroenterol Hepatol. 2023.
Crowley E, Warner N, Pan J, Khalouei S, Elkadri A, Fiedler K, Foong J, Turinsky AL, Bronte-Tinkew D, Zhang S, et al. Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated with Monogenic Variants, Identified by Whole-exome Sequencing in 1000 Children at a Single Center. Gastroenterology. 2020.
Luong P, Li Q, Chen P-F, Wrighton PJ, Chang D, Dwyer S, Bayer M-T, Snapper SB, Hansen SH, Thiagarajah JT, et al. A quantitative single-cell assay for retrograde membrane traffic enables rapid detection of defects in cellular organization. Mol Biol Cell. 2019:mbcE19070375.
Ackermann M, Mucci A, McCabe A, Frei S, Wright K, Snapper SB, Lachmann N, Williams DA, Brendel C. Restored macrophage function ameliorates disease pathophysiology in a mouse model for IL10 receptor deficient very early onset inflammatory bowel disease. J Crohns Colitis. 2021.
Lekbua A, Ouahed J, O'Connell AE, Kahn SA, Goldsmith JD, Imamura T, Duncan CN, Kelsen JR, Worthey E, Snapper SB, et al. Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. J Pediatr Gastroenterol Nutr. 2019;69(1):e13-e18.
Ziegler CGK, Allon SJ, Nyquist SK, Mbano IM, Miao VN, Tzouanas CN, Cao Y, Yousif AS, Bals J, Hauser BM, et al. SARS-CoV-2 Receptor ACE2 Is an Interferon-Stimulated Gene in Human Airway Epithelial Cells and Is Detected in Specific Cell Subsets across Tissues. Cell. 2020.
Mitsialis V, Wall S, Liu P, Ordovas-Montanes J, Parmet T, Vukovic M, Spencer D, Field M, McCourt C, Toothaker J, et al. Single-Cell Analyses of Colon and Blood Reveal Distinct Immune Cell Signatures of Ulcerative Colitis and Crohn's Disease. Gastroenterology. 2020.