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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. 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.
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.
Identifying Neonates at Lowest Risk for Sepsis.
Culic I, O'Connell AE. Culic I, et al. Pediatrics. 2022 Feb 1;149(2):e2021054221. doi: 10.1542/peds.2021-054221. Pediatrics. 2022. PMID: 35022789 No abstract available.
Primary Immunodeficiency in the NICU.
O'Connell AE. O'Connell AE. Neoreviews. 2019 Feb;20(2):e67-e78. doi: 10.1542/neo.20-2-e67. Neoreviews. 2019. PMID: 31261087
Insights into the Role of Commensal-Specific T Cells in Intestinal Inflammation.
Gehlhaar A, Inala A, Llivichuzhca-Loja D, Silva TN, Adegboye CY, O'Connell AE, Konnikova L. Gehlhaar A, et al. Among authors: o connell ae. J Inflamm Res. 2022 Mar 14;15:1873-1887. doi: 10.2147/JIR.S288288. eCollection 2022. J Inflamm Res. 2022. PMID: 35342295 Free PMC article. Review.
30 results