Biblio

Author Title Type [ Year(Asc)]
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2023
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.
2022
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.
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.
2021
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.
2020
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.
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.
2019
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.
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.
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.
2015
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.
2014
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.