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Selected publications

  1. 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. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 Feb 01. PMID: 33526876.
  2. O'Connell AE, Guseh S, Lapteva L, Cummings CL, Wilkins-Haug L, Chan J, Peranteau WH, Almeida-Porada G, Kourembanas S. Gene and Stem Cell Therapies for Fetal Care: A Review. JAMA Pediatr. 2020 10 01; 174(10):985-991. PMID: 32597943.
  3. Frazer LC, O'Connell AE. Primary immunodeficiency testing in a Massachusetts tertiary care NICU: persistent challenges in the extremely premature population. Pediatr Res. 2021 Feb; 89(3):549-553. PMID: 32268342.
  4. Maciag MC, Ward SL, O'Connell AE, Broyles AD. Hypersensitivity to tetracyclines: Skin testing, graded challenge, and desensitization regimens. Ann Allergy Asthma Immunol. 2020 06; 124(6):589-593. PMID: 32087343.
  5. Lekbua A, Ouahed J, O'Connell AE, Kahn SA, Goldsmith JD, Imamura T, Duncan CN, Kelsen JR, Worthey E, Snapper SB, Softic S. Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. J Pediatr Gastroenterol Nutr. 2019 07; 69(1):e13-e18. PMID: 31232887.
  6. O'Connell AE. Primary Immunodeficiency in the NICU. Neoreviews. 2019 02; 20(2):e67-e78. PMID: 31261087.
  7. O'Connell AE, Gerashchenko MV, O'Donohue MF, Rosen SM, Huntzinger E, Gleeson D, Galli A, Ryder E, Cao S, Murphy Q, Kazerounian S, Morton SU, Schmitz-Abe K, Gladyshev VN, Gleizes PE, Séraphin B, Agrawal PB. Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation. PLoS Genet. 2019 02; 15(2):e1007917. PMID: 30707697.
  8. Nelson RW, O'Connell AE, Alroqi F, Kawai K, Young MC, Broyles AD. Duplicate skin prick testing in the assessment of food allergy. J Allergy Clin Immunol Pract. 2019 Feb; 7(2):675-677. PMID: 30075343.
  9. 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. Am J Hum Genet. 2018 07 05; 103(1):131-137. PMID: 29909964.
  10. O’Connell AE, Mulla BM, O’Brien K, Yoon EJ, Carterson A, Brodsky D. NeoReviews. Perinatal Transient Myeloproliferative Disorder in Trisomy 21. 2016; 17(11):e636-e644. View Publication.

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