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Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.
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. O'Connell AE, et al. Among authors: goldsmith jd. Am J Hum Genet. 2018 Jul 5;103(1):131-137. doi: 10.1016/j.ajhg.2018.05.007. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909964 Free PMC article.
Advances in Evaluation of Chronic Diarrhea in Infants.
Thiagarajah JR, Kamin DS, Acra S, Goldsmith JD, Roland JT, Lencer WI, Muise AM, Goldenring JR, Avitzur Y, Martín MG; PediCODE Consortium. Thiagarajah JR, et al. Among authors: goldsmith jd. Gastroenterology. 2018 Jun;154(8):2045-2059.e6. doi: 10.1053/j.gastro.2018.03.067. Epub 2018 Apr 12. Gastroenterology. 2018. PMID: 29654747 Free PMC article. Review.
High-dimensional immune phenotyping and transcriptional analyses reveal robust recovery of viable human immune and epithelial cells from frozen gastrointestinal tissue.
Konnikova L, Boschetti G, Rahman A, Mitsialis V, Lord J, Richmond C, Tomov VT, Gordon W, Jelinsky S, Canavan J, Liss A, Wall S, Field M, Zhou F, Goldsmith JD, Bewtra M, Breault DT, Merad M, Snapper SB. Konnikova L, et al. Among authors: goldsmith jd. Mucosal Immunol. 2018 Nov;11(6):1684-1693. doi: 10.1038/s41385-018-0047-y. Epub 2018 Aug 15. Mucosal Immunol. 2018. PMID: 30111863 Free PMC article.
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.
Zhang YJ, Jimenez L, Azova S, Kremen J, Chan YM, Elhusseiny AM, Saeed H, Goldsmith J, Al-Ibraheemi A, O'Connell AE, Kovbasnjuk O, Rodan L, Agrawal PB, Thiagarajah JR. Zhang YJ, et al. Eur J Hum Genet. 2021 Jun;29(6):998-1007. doi: 10.1038/s41431-021-00812-1. Epub 2021 Feb 1. Eur J Hum Genet. 2021. PMID: 33526876 Free PMC article.
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Ouahed J, Kelsen JR, Spessott WA, Kooshesh K, Sanmillan ML, Dawany N, Sullivan KE, Hamilton KE, Slowik V, Nejentsev S, Neves JF, Flores H, Chung WK, Wilson A, Anyane-Yeboa K, Wou K, Jain P, Field M, Tollefson S, Dent MH, Li D, Naito T, McGovern DPB, Kwong AC, Taliaferro F, Ordovas-Montanes J, Horwitz BH, Kotlarz D, Klein C, Evans J, Dorsey J, Warner N, Elkadri A, Muise AM, Goldsmith J, Thompson B, Engelhardt KR, Cant AJ, Hambleton S, Barclay A, Toth-Petroczy A, Vuzman D, Carmichael N, Bodea C, Cassa CA, Devoto M, Maas RL, Behrens EM, Giraudo CG, Snapper SB. Ouahed J, et al. J Crohns Colitis. 2021 Nov 8;15(11):1908-1919. doi: 10.1093/ecco-jcc/jjab077. J Crohns Colitis. 2021. PMID: 33891011 Free PMC article.
Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.
Dannheim K, Ouahed J, Field M, Snapper S, Raphael BP, Glover SC, Bishop PR, Bhesania N, Kamin D, Thiagarajah J, Goldsmith JD. Dannheim K, et al. Among authors: goldsmith jd. Am J Surg Pathol. 2022 Jun 1;46(6):846-853. doi: 10.1097/PAS.0000000000001856. Epub 2022 Jan 5. Am J Surg Pathol. 2022. PMID: 34985046 Free PMC article.
137 results