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Specialty Areas:

Molecular Genetics, Cystic Fibrosis

Research Focus:

I received my PhD in 1993 from Baylor College of Medicine in the Department of Human and Molecular Genetics under the direction of Dr. Arthur Beaudet. During my first year at Baylor, the cystic fibrosis (CF) gene was discovered, and my career path was set. Under Dr. Beaudet’s direction, I was one of the first to report a population-based study on what turned out to be the most common cystic fibrosis mutation, F508del (1). Baylor College of Medicine was also one of the first institutions to make broad use of recombination in embryonic stem cells for generating mouse lines, and for the bulk of my graduate thesis, in collaboration with Dr. Allen Bradley’s group, I was one of several investigators worldwide who successfully generated mice carrying CF gene mutations (2-4). After graduating, I spent the next five years completing a post-doctoral fellowship, again with Dr. Beaudet, evaluating the potential to utilize adenoviral-based vectors for gene transfer in CF (5-10). While the use of adenoviral vectors in clinical trials for gene transfer have not advanced, the experiences at Baylor provided a solid and broad training in molecular biology, human genetics, mouse transgenics and phenotyping, and viral vector use, all of which prepared me for my academic career.

In 1998, I joined the University of North Carolina Cystic Fibrosis Center (now the Marsico Lung Institute/UNC CF Center) as director of the Molecular Biology and Mouse Core, a position that I still hold. It has been a huge honor to serve in this position. The Molecular Biology and Mouse Core provides the molecular biology (DNA cloning, RNA isolation and analysis, gene editing (CRISPR/Cas9) service), mouse model production, mouse model genotyping and phenotyping for collaborating scientists at UNC and outside investigators as needed. Since 1998, the Core has consistently contributed to the overall group by providing needed expertise, reagents, and equipment in molecular biology and mouse colony management. The Molecular Biology and Mouse Core has been, and continues to be, supported by the NHLBI, NIDDK, Cystic Fibrosis Foundation through a variety of mechanisms related to large collaborative efforts, including PPG Core Grant funding, the NIDDK-supported MTCC and CFRTCC, and the CFF Research and Development Program (RDP).

Throughout its history, the Molecular Biology Core has sought to keep up with the ever-present technological advances. Over the years, not only has the Core conducted standard cloning, PCR, RNA analysis, we have worked with investigators to develop expertise in gene expression microarrays, RNAsequencing, siRNA technologies, CRISPR/Cas9, and now are providing RNA in situ hybridization via the RNAScope technology and single-cell RNA analyses services. The success of the Core is highlighted by the broad range of publications supported by the Core (See bibliography; provide my Bibliography link) and the large number of grants that have utilized Core services to generate key preliminary data to ensure the success of the project. Continued funding by the granting agencies for services provided by is also a measure of the Core’s productivity. The services provided by the Core are also now and integral and important aspect of the work provided by SPIROVATION (

In addition to providing Core services, Dr. O’Neal also has had the ability to pursue independent lines of research in collaboration with Marsico Lung Institute scientists. Particularly rewarding are the research efforts focused on understanding the gene modifiers that associate with CF phenotypes (11-16), expanding the utility of theScnn1b-Tg mouse model for muco-obstructive lung disease (17-25); see Mouse Core for more information), and the understanding of mucin biology and genetics (26-30). While Dr. O’Neal’s true passion is CF research (, the environment in the Marsico Lung Institute has allowed her to apply her skills and expertise to a variety of related problems, including general airway cell biology and physiology and chronic obstructive pulmonary disease, primarily though involvement in the SPIROMICS study (31-33)(, where she serves as Chair of the Biomarkers Working Group, and the PreCISE asthma network, where she serves as Chair of Biomarkers and Quality Control.

In the UNC Health Care and School of Medicine Newsroom, the article entitled: “The Family Disease” was published in April, 2015, and describes Dr. O’Neal’s path to research. Later, in 2018, UNC Health produced a video, “The Family Disease: Insights into CF Research,” which serves as an accompaniment to the 2015 article.

Selected Bibliography:

  1. Sun Q, Yang Y, Rosen JD, Chen J, Li X, Guan W, Jiang MZ, Wen J, Pace RG, Blackman SM, Bamshad MJ, Gibson RL, Cutting GR, O’Neal WK, Knowles MR, Kooperberg C, Reiner AP, Raffield LM, Carson AP, Rich SS, Rotter JI, Loos RJF, Kenny E, Jaeger BC, Min YI, Fuchsberger C, Li Y. MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric. Am J Hum Genet. 2024 Apr 9:S0002-9297(24)00116-2. doi: 10.1016/j.ajhg.2024.04.001. Epub ahead of print. PMID: 38636510.
  2. Stonebraker JR, Pace RG, Gallins PJ, Dang H, Aksit MA, Faino AV, Gordon WW, MacParland S, Bamshad MJ, Gibson RL, Cutting GR, Durie PR, Wright FA, Zhou YH, Blackman SM, O’Neal WK, Ling SC, Knowles MR. Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis. Hepatology. 2024 Mar 27. doi: 10.1097/HEP.0000000000000863. Epub ahead of print. PMID: 38536042.
  3. Asakura T, Okuda K, Chen G, Dang H, Kato T, Mikami Y, Schworer SA, Gilmore RC, Radicioni G, Hawkins P, Barbosa Cardenas SM, Saito M, Cawley AM, De la Cruz G, Chua M, Alexis NE, Masugi Y, Noone PG, Ribeiro CMP, Kesimer M, Olivier KN, Hasegawa N, Randell SH, O’Neal WK, Boucher RC. Proximal and Distal Bronchioles Contribute to the Pathogenesis of Non-Cystic Fibrosis Bronchiectasis (NCFB). Am J Respir Crit Care Med. 2024 Feb 15;209(4):374-389. doi: 10.1164/rccm.202306-1093OC. PMID: 38016030. PMCID: PMC10878387.
  4. Ngo D, Pratte KA, Flexeder C, Petersen H, Dang H, Ma Y, Keyes MJ, Gao Y, Deng S, Peterson BD, Farrell LA, Bhambhani VM, Palacios C, Quadir J, Gillenwater L, Xu H, Emson C, Gieger C, Suhre K, Graumann J, Jain D, Conomos MP, Tracy RP, Guo X, Liu Y, Johnson WC, Cornell E, Durda P, Taylor KD, Papanicolaou GJ, Rich SS, Rotter JI, Rennard SI, Curtis JL, Woodruff PG, Comellas AP, Silverman EK, Crapo JD, Larson MG, Vasan RS, Wang TJ, Correa A, Sims M, Wilson JG, Gerszten RE, O’Connor GT, Barr RG, Couper D, Dupuis J, Manichaikul A, O’Neal WK, Tesfaigzi Y, Schulz H, Bowler RP. Systemic Markers of Lung Function and Forced Expiratory Volume in 1 Second Decline across Diverse Cohorts. Ann Am Thorac Soc. 2023 Aug;20(8):1124-1135. doi: 10.1513/AnnalsATS.202210-857OC. PMID: 37351609; PMCID: PMC10405603.
  5. Izquierdo M, Marion CR, Genese F, Newell JD, O’Neal WK, Li X, Hawkins GA, Barjaktarevic I, Barr RG, Christenson S, Cooper CB, Couper D, Curtis J, Han MK, Hansel NN, Kanner RE, Martinez FJ, Paine R 3rd, Tejwani V, Woodruff PG, Zein JG, Hoffman EA, Peters SP, Meyers DA, Bleecker ER, Ortega VE; National Heart, Lung and Blood Institute’s SubPopulations and InteRmediate Outcome Measures In COPD Study (SPIROMICS) investigators. Impact of Bronchiectasis on COPD Severity and Alpha-1 Antitrypsin Deficiency as a Risk Factor in Individuals with a Heavy Smoking History. Chronic Obstr Pulm Dis. 2023 Jul 26;10(3):199-210. doi: 10.15326/jcopdf.2022.0388. PMID: 37199731. PMCID: PMC10484491.
  6. Van Buren E, Radicioni G, Lester S, O’Neal WK, Dang H, Kasela S, Garudadri S, Curtis JL, Han MK, Krishnan JA, Wan ES, Silverman EK, Hastie A, Ortega VE, Lappalainen T, Nawijn MC, Berge MVD, Christenson SA, Li Y, Cho MH, Kesimer M, Kelada SNP. Genetic regulators of sputum mucin concentration and their associations with COPD phenotypes. PLoS Genet. 2023 Jun 23;19(6):e1010445. doi: 10.1371/journal.pgen.1010445. PMID: 37352370; PMCID: PMC10325042.
  7. Hill AC, Guo C, Litkowski EM, Manichaikul AW, Yu B, Konigsberg IR, Gorbet BA, Lange LA, Pratte KA, Kechris KJ, DeCamp M, Coors M, Ortega VE, Rich SS, Rotter JI, Gerzsten RE, Clish CB, Curtis JL, Hu X, Obeidat ME, Morris M, Loureiro J, Ngo D, O’Neal WK, Meyers DA, Bleecker ER, Hobbs BD, Cho MH, Banaei-Kashani F, Bowler RP. Large scale proteomic studies create novel privacy considerations. Sci Rep. 2023 Jun 7;13(1):9254. doi: 10.1038/s41598-023-34866-6. PMID: 37286633; PMCID: PMC10247808.
  8. Mikami Y, Grubb BR, Rogers TD, Dang H, Asakura T, Kota P, Gilmore RC, Okuda K, Morton LC, Sun L, Chen G, Wykoff JA, Ehre C, Vilar J, van Heusden C, Livraghi-Butrico A, Gentzsch M, Button B, Stutts MJ, Randell SH, O’Neal WK, Boucher RC. Chronic airway epithelial hypoxia exacerbates injury in muco-obstructive lung disease through mucus hyperconcentration. Sci Transl Med. 2023 Jun 7;15(699):eabo7728. doi: 10.1126/scitranslmed.abo7728. PMID: 37285404. PMCID: PMC10664029.
  9. DiLillo KM, Norman KC, Freeman CM, Christenson SA, Alexis NE, Anderson WH, Barjaktarevic IZ, Barr RG, Comellas AP, Bleecker ER, Boucher RC, Couper DJ, Criner GJ, Doerschuk CM, Wells JM, Han MK, Hoffman EA, Hansel NN, Hastie AT, Kaner RJ, Krishnan JA, Labaki WW, Martinez FJ, Meyers DA, O’Neal WK, Ortega VE, Paine R 3rd, Peters SP, Woodruff PG, Cooper CB, Bowler RP, Curtis JL, Arnold KB; SPIROMICS investigators. A blood and bronchoalveolar lavage protein signature of rapid FEV1 decline in smoking-associated COPD. Sci Rep. 2023 May 22;13(1):8228. doi: 10.1038/s41598-023-32216-0. PMID: 37217548; PMCID: PMC10203309.
  10. Zhou YH, Gallins PJ, Pace RG, Dang H, Aksit MA, Blue EE, Buckingham KJ, Collaco JM, Faino AV, Gordon WW, Hetrick KN, Ling H, Liu W, Onchiri FM, Pagel K, Pugh EW, Raraigh KS, Rosenfeld M, Sun Q, Wen J, Li Y, Corvol H, Strug LJ, Bamshad MJ, Blackman SM, Cutting GR, Gibson RL, O’Neal WK, Wright FA, Knowles MR. Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole Genome Analysis of 7,840 Patients. Am J Respir Crit Care Med. 2023 May 15;207(10):1324-1333. doi: 10.1164/rccm.202209-1653OC. PMID: 36921087.
  11. LaFon DC, Woo H, Fedarko N, Azar A, Hill H, Tebo AE, Martins TB, Han MK, Krishnan JA, Ortega VE, Barjaktarevic I, Kaner RJ, Hastie A, O’Neal WK, Couper D, Woodruff PG, Curtis JL, Hansel NN, Nahm MH, Dransfield MT, Putcha N; SPIROMICS investigators. Reduced quantity and function of pneumococcal antibodies are associated with exacerbations of COPD in SPIROMICS. Clin Immunol. 2023 May;250:109324. doi: 10.1016/j.clim.2023.109324. PMID: 37030524. PMCID: PMC10171244.
  12. LeMaster WB, Quibrera PM, Couper D, Tashkin DP, Bleecker ER, Doerschuk CM, Ortega VE, Cooper C, Han MK, Woodruff PG, O’Neal WK, Anderson WH, Alexis NE, Bowler RP, Barr RG, Kaner RJ, Dransfield MT, Paine R 3rd, Kim V, Curtis JL, Martinez FJ, Hastie AT, Barjaktarevic I. Clinical Implications of Low Absolute Blood Eosinophil Count in the SPIROMICS COPD Cohort. Chest. 2023 Mar;163(3):515-528. doi: 10.1016/j.chest.2022.10.029. PMID: 36343688; PMCID: PMC10083128.
  13. Esther CR Jr, O’Neal WK, Alexis NE, Koch AL, Cooper CB, Barjaktarevic I, Raffield LM, Bowler RP, Comellas AP, Peters SP, Hastie AT, Curtis JL, Ronish B, Ortega VE, Wells JM, Halper-Stromberg E, Rennard SI, Boucher RC. Prolonged, Physiologically Relevant Nicotine Concentrations in the Airways of Smokers. Am J Physiol Lung Cell Mol Physiol. 2023 Jan 1;324(1):L32-L37. doi: 10.1152/ajplung.00038.2022. PMID: 36342131. PMCID: PMC9829458.
  14. Kato T, Asakura T, Edwards CE, Dang H, Mikami Y, Okuda K, Chen G, Sun L, Gilmore RC, Hawkins P, De la Cruz G, Cooley MR, Bailey AB, Hewitt SM, Chertow DS, Borczuk AC, Salvatore S, Martinez FJ, Thorne LB, Askin FB, Ehre C, Randell SH, O’Neal WK, Baric RS, Boucher RC; NIH COVID-19 Autopsy Consortium. Prevalence and mechanisms of mucus accumulation in COVID-19 lung disease. Am J Respir Crit Care Med. 2022 Dec 1;206(11):1336-1352. doi: 10.1164/rccm.202111-2606OC. PMID: 35816430. PMCID: PMC9746856.
  15. Dinnon KH§, Leist SR§, Okuda K§, Dang H§, Fritch EJ§, Gully KL, De la Cruz G, Evangelista MD, Asakura T, Gilmore RC, Hawkins P, Nakano S, West A, Schäfer A, Gralinski LE, Everman JL, Sajuthi SP, Zweigart MR, Dong S, McBride J, Cooley MR, Hines JB, Love MK, Groshong SD, VanSchoiack A, Phelan SJ, Liang Y, Hether T, Leon M, Zumwalt RE, Barton LM, Duval EJ, Mukhopadhyay S, Stroberg E, Borczuk A, Thorne LB, Sakthivel MK, Lee YZ, Hagood JS, Mock JR, Seibold MA, O’Neal WK, Montgomery SA, Boucher RC*, Baric RS*. SARS-CoV-2 infection produces chronic pulmonary epithelial and immune cell dysfunction with fibrosis in mice. Sci Transl Med. 2022 Sep 28;14(664):eabo5070. doi: 10.1126/scitranslmed.abo5070. PMID: 35857635. PMCID: PMC9273046. §These authors contributed equally. *Joint senior authorship.
  16. Biering SB, Sarnik SA, Wang E, Zengel JR, Leist SR, Schäfer A, Sathyan V, Hawkins P, Okuda K, Tau C, Jangid AR, Duffy CV, Wei J, Gilmore RC, Alfajaro MM, Strine MS, Nguyenla X, Van Dis E, Catamura C, Yamashiro LH, Belk JA, Begeman A, Stark JC, Shon DJ, Fox DM, Ezzatpour S, Huang E, Olegario N, Rustagi A, Volmer AS, Livraghi-Butrico A, Wehri E, Behringer RR, Cheon DJ, Schaletzky J, Aguilar HC, Puschnik AS, Button B, Pinsky BA, Blish CA, Baric RS, O’Neal WK, Bertozzi CR, Wilen CB, Boucher RC, Carette JE, Stanley SA, Harris E, Konermann S, Hsu PD. Genome-wide bidirectional CRISPR screens identify mucins as host factors modulating SARS-CoV-2 infection. Nat Genet. 2022 Aug;54(8):1078-1089. doi: 10.1038/s41588-022-01131-x. PMID: 35879412. PMCID: PMC9355872.
  17. Esther CR Jr, O’Neal WK, Anderson WH, Kesimer M, Ceppe A, Doerschuk CM, Alexis NE, Hastie AT, Barr RG, Bowler RP, Wells JM, Oelsner EC, Comellas AP, Tesfaigzi Y, Kim V, Paulin LM, Cooper CB, Han MK, Huang YJ, Labaki WW, Curtis JL, Boucher RC; SPIROMICS. Identification of Sputum Biomarkers Predictive of Pulmonary Exacerbations in Chronic Obstructive Pulmonary Disease. Chest. 2022 May;161(5):1239-1249. doi: 10.1016/j.chest.2021.10.049. PMID: 34801592. PMCID: PMC9131049.
  18. Morrison CB, Edwards CE, Shaffer KM, Araba KC, Wykoff JA, Williams DR, Asakura T, Dang H, Morton LC, Gilmore RC, O’Neal WK, Boucher RC, Baric RS, Ehre C. SARS-CoV-2 infection of airway cells causes intense viral and cell shedding, two spreading mechanisms affected by IL-13. Proc Natl Acad Sci U S A. 2022 Apr 19;119(16):e2119680119. doi: 10.1073/pnas.2119680119. PMID: 35353667. PMCID: PMC9169748.
  19. Kato T, Radicioni G, Papanikolas MJ, Stoychev GV, Markovetz MR, Aoki K, Porterfield M, Okuda K, Barbosa Cardenas SM, Gilmore RC, Morrison CB, Ehre C, Burns KA, White KK, Brennan TA, Goodell HP, Thacker H, Loznev HT, Forsberg LJ, Nagase T, Rubinstein M, Randell SH, Tiemeyer M, Hill DB, Kesimer M, O’Neal WK, Ballard ST, Freeman R, Button B, Boucher RC. Mucus concentration-dependent biophysical abnormalities unify submucosal gland and superficial airway dysfunction in cystic fibrosis. Sci Adv. 2022 Apr;8(13):eabm9718. doi: 10.1126/sciadv.abm9718. PMID: 35363522.
  20. Morrison CB, Shaffer KM, Araba KC, Markovetz MR, Wykoff JA, Quinney NL, Hao S, Delion MF, Flen AL, Morton LC, Liao J, Hill DB, Drumm ML, O’Neal WK, Kesimer M, Gentzsch M, Ehre C. Treatment of cystic fibrosis airway cells with CFTR modulators reverses aberrant mucus properties via hydration. Eur Respir J. 2022 Feb 3;59(2):2100185. doi: 10.1183/13993003.00185-2021. PMID: 34172469. PMCID: PMC8859811.
  21. Georas SN, Wright RJ, Ivanova A, Israel E, LaVange LM, Akuthota P, Carr TF, Denlinger LC, Fajt ML, Kumar R, O’Neal WK, Phipatanakul W, Szefler SJ, Aronica MA, Bacharier LB, Burbank AJ, Castro M, Alexander LC, Bamdad J, Cardet JC, Comhair SAA, Covar RA, DiMango EA, Erwin K, Erzurum SC, Fahy JV, Gaffin JM, Gaston B, Gerald LB, Hoffman EA, Holguin F, Jackson DJ, James J, Jarjour NN, Kenyon NJ, Khatri S, Kirwan JP, Kraft M, Krishnan JA, Liu AH, Liu MC, Marquis MA, Martinez F, Mey J, Moore WC, Moy JN, Ortega VE, Peden DB, Pennington E, Peters MC, Ross K, Sanchez M, Smith LJ, Sorkness RL, Wechsler ME, Wenzel SE, White SR, Zein J, Zeki AA, Noel P; PrecISE Study Team. The Precision Interventions for Severe and/or Exacerbation-Prone (PrecISE) Asthma Network: an overview of Network organization, procedures and interventions. J Allergy Clin Immunol. 2022 Feb;149(2):488-516.e9. doi: 10.1016/j.jaci.2021.10.035. PMID: 34848210. PMCID: PMC8821377.
  22. Sun Q, Liu W, Rosen JD, Huang L, Pace RG, Dang H, Gallins PJ, Blue EE, Ling H, Corvol H, Strug LJ, Bamshad MJ, Gibson RL, Pugh EW, Blackman SM, Cutting GR, O’Neal WK, Zhou YH, Wright FA, Knowles MR, Wen J, Li Y; Cystic Fibrosis Genome Project. Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients. HGG Adv. 2022 Jan 11;3(2):100090. doi: 10.1016/j.xhgg.2022.100090. PMID: 35128485; PMCID: PMC8804187.
  23. Radicioni G, Ceppe A, Ford AA, Alexis NE, Barr RG, Bleecker ER, Christenson SA, Cooper CB, Han MK, Hansel NN, Hastie AT, Hoffman EA, Kanner RE, Martinez FJ, Ozkan E, Paine R 3rd, Woodruff PG, O’Neal WK, Boucher RC, Kesimer M. Airway mucin MUC5AC and MUC5B concentrations and the initiation and progression of chronic obstructive pulmonary disease: an analysis of the SPIROMICS cohort. Lancet Respir Med. 2021 Nov;9(11):1241-1254. doi: 10.1016/S2213-2600(21)00079-5. PMID: 34058148. PMCID: PMC8570975.
  24. Carpenter J, Wang Y, Gupta R, Li Y, Haridass P, Subramani DB, Reidel B, Morton L, Ridley C, O’Neal WK, Buisine MP, Ehre C, Thornton DJ, Kesimer M. Assembly and organization of the N-terminal region of mucin MUC5AC: Indications for structural and functional distinction from MUC5B. Proc Natl Acad Sci U S A. 2021 Sep 28;118(39):e2104490118. doi: 10.1073/pnas.2104490118. PMID: 34548396; PMCID: PMC8488587.
  25. Eastman AC, Pace RG, Dang H, Aksit MA, Vecchio-Pagán B, Lam AN, O’Neal WK, Blackman SM, Knowles MR, Cutting GR. SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR. J Cyst Fibros. 2021 Sep;20(5):851-856. doi: 10.1016/j.jcf.2021.02.007. PMID: 33674211. PMCID: PMC8410892.
  26. Fortis S, Comellas A, Bhatt SP, Hoffman EA, Han MK, Bhakta NR, Paine R 3rd, Ronish B, Kanner RE, Dransfield M, Hoesterey D, Buhr RG, Barr RG, Dolezal B, Ortega VE, Drummond MB, Arjomandi M, Kaner RJ, Kim V, Curtis JL, Bowler RP, Martinez F, Labaki WW, Cooper CB, O’Neal WK, Criner G, Hansel NN, Krishnan JA, Woodruff P, Couper D, Tashkin D, Barjaktarevic I. Ratio of Forced Expiratory Volume in 1 second /Slow Vital Capacity (FEV1/SVC)<0.7 is associated with clinical, functional, and radiologic features of obstructive lung disease in smokers with preserved lung function. Chest. 2021 Jul;160(1):94-103. doi: 10.1016/j.chest.2021.01.067. PMID: 33539837. PMCID: PMC8295909.
  27. Okuda K, Dang H, Kobayashi Y, Carraro G, Nakano S, Chen G, Kato T, Asakura T, Gilmore RC, Morton LC, Lee RE, Mascenik T, Yin WN, Barbosa Cardenas SM, O’Neal YK, Minnick CE, Chua M, Quinney NL, Gentzsch M, Anderson CW, Ghio A, Matsui H, Nagase T, Ostrowski LE, Grubb BR, Olsen JC, Randell SH, Stripp BR, Tata PR, O’Neal WK, Boucher RC. Secretory Cells Dominate Airway CFTR Expression and Function in Human Airway Superficial Epithelia. Am J Respir Crit Care Med. 2021 May 15;203(10):1275-1289. doi: 10.1164/rccm.202008-3198OC. PMID: 33321047. PMCID: PMC8456462.
  28. Israel E, Denlinger LC, Bacharier LB, LaVange LM, Moore WC, Peters MC, Georas SN, Wright RJ, Mauger DT, Noel P, Akuthota P, Bach J, Bleecker ER, Cardet JC, Carr TF, Castro M, Cinelli A, Comhair SAA, Covar RA, Alexander LC, DiMango EA, Erzurum SC, Fahy JV, Fajt ML, Gaston BM, Hoffman EA, Holguin F, Jackson DJ, Jain S, Jarjour NN, Ji Y, Kenyon NJ, Kosorok MR, Kraft M, Krishnan JA, Kumar R, Liu AH, Liu MC, Ly NP, Marquis MA, Martinez FD, Moy JN, O’Neal WK, Ortega VE, Peden DB, Phipatanakul W, Ross K, Smith LJ, Szefler SJ, Teague WG, Tulchinsky AF, Vijayanand P, Wechsler ME, Wenzel SE, White SR, Zeki AA, Ivanova A. PrecISE: Precision Medicine in Severe Asthma: An adaptive platform trial with biomarker ascertainment. J Allergy Clin Immunol. 2021 May;147(5):1594-1601. doi: 10.1016/j.jaci.2021.01.037. PMID: 33667479. PMCID: PMC8113113.
  29. Pratte KA, Curtis JL, Kechris K, Couper D, Cho MH, Silverman EK, DeMeo DL, Sciurba FC, Zhang Y, Ortega VE, O’Neal WK, Gillenwater LA, Lynch DA, Hoffman EA, Newell JD Jr, Comellas AP, Castaldi PJ, Miller BE, Pouwels SD, Hacken NHTT, Bischoff R, Klont F, Woodruff PG, Paine R, Barr RG, Hoidal J, Doerschuk CM, Charbonnier JP, Sung R, Locantore N, Yonchuk JG, Jacobson S, Tal-Singer R, Merrill D, Bowler RP. Soluble receptor for advanced glycation end products (sRAGE) as a biomarker of COPD. Respir Res. 2021 Apr 27;22(1):127. doi: 10.1186/s12931-021-01686-z. PMID: 33906653; PMCID: PMC8076883.
  30. Dunican EM, Elicker BM, Henry T, Gierada DS, Schiebler ML, Anderson W, Barjaktarevic I, Barr RG, Bleecker ER, Boucher RC, Bowler RP, Christenson SA, Comellas A, Cooper CB, Couper D, Criner GJ, Dransfield M, Doerschuk CM, Drummond MB, Hansel NN, Han MK, Hastie AT, Hoffman EA, Krishnan JA, Lazarus SC, Martinez FJ, McCulloch CE, O’Neal WK, Ortega VE, Paine R 3rd, Peters S, Schroeder JD, Woodruff PG, Fahy JV. Mucus Plugs and Emphysema in the Pathophysiology of Airflow Obstruction and Hypoxemia in Smokers. Am J Respir Crit Care Med. 2021 Apr 15;203(8):957-968. doi: 10.1164/rccm.202006-2248OC. PMID: 33180550. PMCID: PMC8048745.
  31. Opron K, Begley LA, Erb-Downward JR, Freeman C, Madapoosi S, Alexis NE, Barjaktarevic I, Graham Barr R, Bleecker ER, Bowler RP, Christenson SA, Comellas AP, Cooper CB, Couper DJ, Doerschuk CM, Dransfield MT, Han MK, Hansel NN, Hastie AT, Hoffman EA, Kaner RJ, Krishnan J, O’Neal WK, Ortega VE, Paine R 3rd, Peters SP, Michael Wells J, Woodruff PG, Martinez FJ, Curtis JL, Huffnagle GB, Huang YJ. Lung microbiota associations with clinical features of COPD in the SPIROMICS cohort. NPJ Biofilms Microbiomes. 2021 Feb 5;7(1):14. doi: 10.1038/s41522-021-00185-9. PMID: 33547327. PMCID: PMC7865064.
  32. Xu J, Livraghi-Butrico A, Hou X, Rajagopalan C, Zhang J, Song J, Jiang H, Wei HG, Wang H, Bouhamdan M, Ruan J, Yang D, Qiu Y, Youming X, Barrett RP, McClellan SA, Mou H, Wu Q, Chen X, Rogers TD, Wilkinson KJ, Gilmore RC, Esther CR Jr, Zaman K, Liang X, Sobolic M, Hazlett L, Zhang K, Frizzell RA, Gentzsch M, O’Neal WK, Grubb BR, Chen YE, Boucher RC, Sun F. Phenotypes of CF rabbits generated by CRISPR/Cas9-mediated disruption of the CFTR gene. JCI Insight. 2021 Jan 11;6(1):e139813. doi: 10.1172/jci.insight.139813. PMID: 33232302. PMCID: PMC7821608.
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  82. Saini Y, Wilkinson KJ, Terrell KA, Burns KA, Livraghi-Butrico A, Doerschuk CM, O’Neal WK, Boucher RC. Neonatal pulmonary macrophage depletion coupled to defective mucus clearance increases susceptibility to pneumonia and alters pulmonary immune responses. Am J Respir Cell Mol Biol. 2016 Feb;54(2):210-21. doi: 10.1165/rcmb.2014-0111OC. PMID: 26121027; PMCID: PMC4821038.
  83. Guo X, Pace RG, Stonebraker JR, O’Neal WK, Knowles MR. Meconium ileus in cystic fibrosis is not linked to central repetitive region length variation in MUC1, MUC2, and MUC5AC. J Cyst Fibros. 2014 Dec;13(6):613-6. doi: 10.1016/j.jcf.2014.05.005. PMID: 24920497; PMCID: PMC4253052.
  84. Guo X, Zheng S, Dang H, Pace RG, Stonebraker JR, Jones CD, Boellmann F, Yuan G, Haridass P, Fedrigo O, Corcoran DL, Seibold MA, Ranade SS, Knowles MR, O’Neal WK, Voynow JA. Genome reference and sequence variation in the large repetitive central exon of human MUC5AC. Am J Respir Cell Mol Biol. 2014 Jan;50(1):223-32. doi: 10.1165/rcmb.2013-0235OC. PMID: 24010879; PMCID: PMC3930937.
  85. O’Neal WK, Anderson W, Basta PV, Carretta EE, Doerschuk CM, Barr RG, Bleecker ER, Christenson SA, Curtis JL, Han MK, Hansel NN, Kanner RE, Kleerup EC, Martinez FJ, Miller BE, Peters SP, Rennard SI, Scholand MB, Tal-Singer R, Woodruff PG, Couper DJ, Davis SM; SPIROMICS Investigators. Comparison of serum, EDTA plasma and P100 plasma for luminex-based biomarker multiplex assays in patients with chronic obstructive pulmonary disease in the SPIROMICS study. J Transl Med. 2014 Jan 8;12:9. doi: 10.1186/1479-5876-12-9. PMID: 24397870; PMCID: PMC3928911.
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  87. Livraghi-Butrico A, Kelly EJ, Wilkinson KJ, Rogers TD, Gilmore RC, Harkema JR, Randell SH, Boucher RC, O’Neal WK, Grubb BR. Loss of Cftr function exacerbates the phenotype of Na(+) hyperabsorption in murine airways. Am J Physiol Lung Cell Mol Physiol. 2013 Apr 1;304(7):L469-80. doi: 10.1152/ajplung.00150.2012. PMID: 23377346; PMCID: PMC3627939.
  88. Martino MB, Jones L, Brighton B, Ehre C, Abdulah L, Davis CW, Ron D, O’Neal WK, Ribeiro CM. The ER stress transducer IRE1β is required for airway epithelial mucin production. Mucosal Immunol. 2013 May;6(3):639-54. doi: 10.1038/mi.2012.105. PMID: 23168839; PMCID: PMC4031691.
  89. Roy M, Livraghi-Butrico A, Fletcher AA, McElwee MM, Evans SE, Boerner RM, Alexander SN, Bellinghausen LK, Song AS, Petrova YM, Tuvim MJ, Adachi R, Romo I, Bordt AS, Bowden MG, Sisson JH, Woodruff PG, Thornton DJ, Rousseau K, De la Garza MM, Moghaddam SJ, Karmouty-Quintana H, Blackburn MR, Drouin SM, Davis CW, Terrell KA, Grubb BR, O’Neal WK, Flores SC, Cota-Gomez A, Lozupone CA, Donnelly JA, Watson AM, Hennessy CE, Keith RC, Yang IV, Barthel L, Henson PM, Janssen WJ, Schwartz DA, Boucher RC, Dickey BF, Evans CM. Muc5b is required for airway defense. Nature. 2013;505:412-416. doi: 10.1038/nature12807. PMID: 24317696; PMCID: PMC4001806.
  90. Ehre C, Worthington EN, Liesman RM, Grubb BR, Barbier D, O’Neal WK, Sallenave JM, Pickles RJ, Boucher RC. Overexpressing mouse model demonstrates the protective role of Muc5ac in the lungs. Proc Natl Acad Sci U S A. 2012 Oct 9;109(41):16528-33. doi: 10.1073/pnas.1206552109. Erratum in: Proc Natl Acad Sci U S A. 2014 Apr 15;111(15):5753. PMID: 23012413; PMCID: PMC3478656.
  91. Livraghi-Butrico A, Grubb BR, Kelly EJ, Wilkinson KJ, Yang H, Geiser M, Randell SH, Boucher RC, O’Neal WK. Genetically determined heterogeneity of lung disease in a mouse model of airway mucus obstruction. Physiol Genomics. 2012 Apr 15;44(8):470-84. doi: 10.1152/physiolgenomics.00185.2011. PMID: 22395316; PMCID: PMC3339860.
  92. Livraghi-Butrico A, Kelly EJ, Klem ER, Dang H, Wolfgang MC, Boucher RC, Randell SH, O’Neal WK. Mucus clearance, MyD88-dependent and MyD88-independent immunity modulate lung susceptibility to spontaneous bacterial infection and inflammation. Mucosal Immunol. 2012 Jul;5(4):397-408. doi: 10.1038/mi.2012.17. PMID: 22419116; PMCID: PMC3377774.
  93. Sun L, Rommens JM, Corvol H, Li W, Li X, Chiang TA, Lin F, Dorfman R, Busson PF, Parekh RV, Zelenika D, Blackman SM, Corey M, Doshi VK, Henderson L, Naughton KM, O’Neal WK, Pace RG, Stonebraker JR, Wood SD, Wright FA, Zielenski J, Clement A, Drumm ML, Boelle PY, Cutting GR, Knowles MR, Durie PR, Strug LJ. Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nat Genet. 2012 May;44(5):562-9. doi: 10.1038/ng.2221. PMID: 22466613; PMCID: PMC3371103.
  94. Guo X, Pace RG, Stonebraker JR, Commander CW, Dang AT, Drumm ML, Harris A, Zou F, Swallow DM, Wright FA, O’Neal WK, Knowles MR. Mucin variable number tandem repeat polymorphisms and severity of cystic fibrosis lung disease: significant association with MUC5AC. PLoS One. 2011;6(10):e25452. doi: 10.1371/journal.pone.0025452. PMID: 21998660; PMCID: PMC3188583.
  95. Wright FA, Strug LJ, Doshi VK, Commander CW, Blackman SM, Sun L, Berthiaume Y, Cutler D, Cojocaru A, Collaco JM, Corey M, Dorfman R, Goddard K, Green D, Kent JW, Jr., Lange EM, Lee S, Li W, Luo J, Mayhew GM, Naughton KM, Pace RG, Pare P, Rommens J, Sandford A, Stonebraker JR, Sun W, Taylor C, Vanscoy LL, Zou F, Blangero J, Zielenski J, O’Neal WK, Drumm ML, Durie PR, Knowles MR, Cutting GR. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet. 2011 Jun;43(6):539-46. doi: 10.1038/ng.838. PMID: 21602797; PMCID: PMC3296486.
  96. Mall MA, Button B, Johannesson B, Zhou Z, Livraghi A, Caldwell RA, Schubert SC, Schultz C, O’Neal WK, Pradervand S, Hummler E, Rossier BC, Grubb BR, Boucher RC. Airway surface liquid volume regulation determines different airway phenotypes in liddle compared with betaENaC-overexpressing mice. J Biol Chem. 2010 Aug 27;285(35):26945-26955. doi: 10.1074/jbc.M110.151803. PMID: 20566636; PMCID: PMC2930694.
  97. Martino MEB, Jones L, Brighton B, O’Neal WK, Ribeiro CMP. The ER stress transducer IRE1B is a key regulator of airway mucin production. Pediatr Pulmonol. 2010;Suppl. 33 256.
  98. Livraghi A, Grubb BR, Hudson EJ, Wilkinson KJ, Sheehan JK, Mall MA, O’Neal WK, Boucher RC, Randell SH. Airway and lung pathology due to mucosal surface dehydration in {beta}-epithelial Na+ channel-overexpressing mice: role of TNF-{alpha} and IL-4R{alpha} signaling, influence of neonatal development, and limited efficacy of glucocorticoid treatment. J Immunol. 2009 Apr 1;182(7):4357-67. doi: 10.4049/jimmunol.0802557. PMID: 19299736; PMCID: PMC2659461.
  99. Mall MA, Harkema JR, Trojanek JB, Treis D, Livraghi A, Schubert S, Zhou Z, Kreda SM, Tilley SL, Hudson EJ, O’Neal WK, Boucher RC. Development of chronic bronchitis and emphysema in beta-epithelial Na+ channel-overexpressing mice. Am J Respir Crit Care Med. 2008 Apr 1;177(7):730-42. doi: 10.1164/rccm.200708-1233OC. PMID: 18079494; PMCID: PMC2277210.
  100. Rowe SM, Jackson PL, Liu G, Hardison M, Livraghi A, Solomon GM, McQuaid DB, Noerager BD, Gaggar A, Clancy JP, O’Neal W, Sorscher EJ, Abraham E, Blalock JE. Potential role of high-mobility group box 1 in cystic fibrosis airway disease. Am J Respir Crit Care Med. 2008 Oct 15;178(8):822-31. doi: 10.1164/rccm.200712-1894OC. PMID: 18658107; PMCID: PMC2566793.
  101. Stonebraker JR, Wagner D, Lefensty RW, Burns K, Gendler SJ, Bergelson JM, Boucher RC, O’Neal WK, Pickles RJ. Glycocalyx restricts adenoviral vector access to apical receptors expressed on respiratory epithelium in vitro and in vivo: Role for tethered mucins as barriers to lumenal infection. J Virol. 2004 Dec;78(24):13755-68. doi: 10.1128/JVI.78.24.13755-13768.2004. PMID: 15564484; PMCID: PMC533903.
  102. O’Neal WK, Rose E, Zhou H, Langston C, Rice K, Carey D, Beaudet AL. Multiple advantages of alpha-fetoprotein as a marker for in vivo gene transfer. Mol Ther. 2000 Dec;2(6):640-8. doi: 10.1006/mthe.2000.0198. PMID: 11124066.
  103. O’Neal WK, Zhou H, Morral N, Langston C, Parks RJ, Graham FL, Kochanek S, Beaudet AL. Toxicity associated with repeated administration of first-generation adenovirus vectors does not occur with a helper-dependent vector. Mol Med. 2000 Mar;6(3):179-95. PMID: 10965494; PMCID: PMC1949942.
  104. Morral N, O’Neal W, Rice K, Leland M, Kaplan J, Piedra PA, Zhou H, Parks RJ, Velji R, Aguilar-Cordova E, Wadsworth S, Graham FL, Kochanek S, Carey KD, Beaudet AL. Administration of helper-dependent adenoviral vectors and sequential delivery of different vector serotype for long-term liver-directed gene transfer in baboons. Proc Natl Acad Sci U S A. 1999 Oct 26;96(22):12816-21. doi: 10.1073/pnas.96.22.12816. PMID: 10536005; PMCID: PMC23112.
  105. O’Neal WK, Zhou H, Morral N, Aguilar-Cordova E, Pestaner J, Langston C, Mull B, Wang Y, Beaudet AL, Lee B. Toxicological comparison of E2a-deleted and first-generation adenoviral vectors expressing alpha1-antitrypsin after systemic delivery. Hum Gene Ther. 1998 Jul 20;9(11):1587-98. doi: 10.1089/hum.1998.9.11-1587. PMID: 9694157.
  106. Morral N, O’Neal W, Zhou H, Langston C, Beaudet A. Immune responses to reporter proteins and high viral dose limit duration of expression with adenoviral vectors: comparison of E2a wild type and E2a deleted vectors. Hum Gene Ther. 1997 Jul 1;8(10):1275-86. doi: 10.1089/hum.1997.8.10-1275. PMID: 9215744.
  107. Zhou H, O’Neal W, Morral N, Beaudet AL. Development of a complementing cell line and a system for construction of adenovirus vectors with E1 and E2a deleted. J Virol. 1996 Oct;70(10):7030-8. doi: 10.1128/JVI.70.10.7030-7038.1996. PMID: 8794347; PMCID: PMC190753.
  108. Hasty P, O’Neal WK, Liu KQ, Morris AP, Bebok Z, Shumyatsky GB, Jilling T, Sorscher EJ, Bradley A, Beaudet AL. Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene. Somat Cell Mol Genet. 1995 May;21(3):177-87. doi: 10.1007/BF02254769. PMID: 7482032.
  109. O’Neal WK, Hasty P, McCray PB, Jr., Casey B, Rivera-Perez J, Welsh MJ, Beaudet AL, Bradley A. A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus. Hum Mol Genet. 1993 Oct;2(10):1561-9. doi: 10.1093/hmg/2.10.1561. PMID: 7505691.
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Wanda O'Neal