456 results on '"O'Shea R"'
Search Results
2. The gas grid as a vector for regional decarbonisation - a techno economic case study for biomethane injection and natural gas heavy goods vehicles
- Author
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Keogh, Niamh, Corr, D., O'Shea, R., and Monaghan, R.F.D.
- Published
- 2022
- Full Text
- View/download PDF
3. Implications of European Union recast Renewable Energy Directive sustainability criteria for renewable heat and transport: Case study of willow biomethane in Ireland
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Long, A., Bose, A., O'Shea, R., Monaghan, R., and Murphy, J.D.
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- 2021
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- View/download PDF
4. The ALERT-B questionnaire: A screening tool for the detection of gastroenterological late effects after radiotherapy for prostate cancer
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Farnell, D.J.J., Staffurth, J., Sivell, S., Ahmedzai, S., Andreyev, J., Green, J., Sanders, D.S., Ferguson, C.J., Pickett, S., Muls, A., O'Shea, R., Campbell, S.H., Taylor, S.E., and Nelson, A.
- Published
- 2020
- Full Text
- View/download PDF
5. Intracellular lipid droplet accumulation occurs early following viral infection and is required for an efficient interferon response
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Monson, E. A., Crosse, K. M., Duan, M., Chen, W., O’Shea, R. D., Wakim, L. M., Carr, J. M., Whelan, D. R., and Helbig, K. J.
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- 2021
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6. Kynurenine pathway metabolism and the neurobiology of treatment-resistant depression: Comparison of multiple ketamine infusions and electroconvulsive therapy
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Allen, A.P., Naughton, M., Dowling, J., Walsh, A., O'Shea, R., Shorten, G., Scott, L., McLoughlin, D.M., Cryan, J.F., Clarke, G., and Dinan, T.G.
- Published
- 2018
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- View/download PDF
7. An energy and greenhouse gas comparison of centralised biogas production with road haulage of pig slurry, and decentralised biogas production with biogas transportation in a low-pressure pipe network
- Author
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O'Shea, R., Wall, D.M., and Murphy, J.D.
- Published
- 2017
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8. The potential of power to gas to provide green gas utilising existing CO2 sources from industries, distilleries and wastewater treatment facilities
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O'Shea, R., Wall, D.M., McDonagh, S., and Murphy, J.D.
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- 2017
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9. Modelling a demand driven biogas system for production of electricity at peak demand and for production of biomethane at other times
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O’Shea, R., Wall, D., and Murphy, J.D.
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- 2016
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10. Investigating two-phase digestion of grass silage for demand-driven biogas applications: Effect of particle size and rumen fluid addition
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Wall, D.M., Allen, E., O'Shea, R., O'Kiely, P., and Murphy, J.D.
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- 2016
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11. Next generation sequencing is informing phenotype: a TP53 example
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O’Shea, R., Clarke, R., Berkley, E., Giffney, C., Farrell, M., O’Donovan, E., and Gallagher, D. J.
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- 2017
- Full Text
- View/download PDF
12. Dynamic response signatures of a scaled model platform for floating wind turbines in an ocean wave basin
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Jaksic, V., O'Shea, R., Cahill, P., Murphy, J., Mandic, D. P., and Pakrashi, V.
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- 2015
13. Efficacité en pratique clinique courante des incrétino-mimétiques dans le traitement du diabète de type 2 : résultats d’une enquête nationale rétrospective au Royaume-Uni
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Evans, M., McEwan, P., O'Shea, R., and George, L.
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- 2014
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14. Safety of elective paediatric surgery during the coronavirus disease 2019 pandemic
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Kavanagh, F.G., primary, James, D.L., additional, Brinkman, D., additional, Cornyn, S., additional, Murphy, C., additional, O'Neill, S., additional, O'Shea, R., additional, Affendi, A., additional, Lang, B., additional, O'Connor, A., additional, Keogh, I., additional, Lang, E., additional, Russell, J., additional, O'Brien, D., additional, Sheahan, P., additional, Kang, So Jeong, additional, O'Sullivan, Ryan, additional, Kennedy, Brian, additional, Tiernan, Conor, additional, Murchú, Oisín ó, additional, Urbaniak, Agnieska, additional, Hannon, Colm, additional, O'Sullivan, Peter, additional, Khan, Habib, additional, Dias, Andrew, additional, Coakley, Darragh, additional, Mehanna, Rania, additional, Hone, Stephen, additional, Garry, Stephen, additional, Heffernan, Coleen, additional, Phelan, Eimear, additional, Kieran, Stephen, additional, Boyle, Seamus, additional, Fitzsimons, Michael, additional, Young, Orla, additional, Thornton, Mona, additional, Lang, John, additional, Gormley, Peter, additional, Subramaniam, Thavakumar, additional, Aly, Moustafa, additional, Zaman, Tahir, additional, Majeed, Khalid, additional, Fapohunda, Ola, additional, Byrne, Ross, additional, Cregg, Joanne, additional, Cheema, Jesvin, additional, Thornton, David, additional, O'Domhaill, Oisin, additional, Donnelly, Martin, additional, Smith, David, additional, Skinner, Liam, additional, and Mahesh, Bangalore, additional
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- 2021
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15. Hematologic abnormalities as a marker of cirrhosis after Fontan completion
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Scandinaro, A, primary, Haider, M, additional, Saef, J, additional, Farwati, M, additional, Allende, D, additional, Ghobrial, J, additional, Zahka, K, additional, O'Shea, R, additional, and Fares, M, additional
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- 2021
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16. Offshore Multi-use setting: Introducing integrative assessment modelling to alleviate uncertainty of developing Seaweed Aquaculture inside Wind Farms
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O'Shea, R, Collins, A, and Howe, C
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History ,Global and Planetary Change ,Environmental Engineering ,Polymers and Plastics ,Business and International Management ,Management, Monitoring, Policy and Law ,Pollution ,Waste Management and Disposal ,Industrial and Manufacturing Engineering - Abstract
The offshore multi-use setting is a concept that reduces spatial competition in the marine economy. Seaweed Aquaculture inside Wind Farms has been suggested as a multi-use setting design, however, the uncertainty surrounding impacts associated with multi-use setting activities is a key barrier to the development of the concept. To begin alleviating uncertainty on the Seaweed Aquaculture-Wind Farm system, a systematic literature review was performed to identify the potential negative consequences of developing seaweed aquaculture inside of Wind Farms. Findings suggest negative consequences may result across multiple objectives. The study findings were used to construct cognitive models that are necessary to facilitate further integrative assessment modelling on social and ecological impacts of integrating seaweed aquaculture and Wind Farms. The interdisciplinary frameworks and research strategy proposed by this study is the first attempt to formalise holistic sustainability assessment and novel management of an emerging bioeconomic innovation being pursued in Europe
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- 2022
17. Psychomotor stimulant effects of α-pyrrolidinovalerophenone (αPVP) enantiomers correlate with drug binding kinetics at the dopamine transporter
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Stockner T, Alexander F. Hoffman, Schwazer J, Sandtner W, Pollak D, Harald H. Sitte, Kathrin Jäntsch, O'Shea R, Marco Niello, Gradisch R, Carl R. Lupica, Julian Maier, Sideromenos S, and Michael H. Baumann
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Drug ,Psychomotor learning ,biology ,Chemistry ,media_common.quotation_subject ,medicine.medical_treatment ,Pharmacology ,Receptor–ligand kinetics ,Stimulant ,medicine ,biology.protein ,Enantiomer ,media_common ,Dopamine transporter - Abstract
α-Pyrrolidinovalerophenone (αPVP) is a psychostimulant and drug of abuse associated with severe intoxications in humans. αPVP exerts long-lasting psychostimulant effects, when compared to the classical dopamine transporter (DAT) inhibitor cocaine. Here, we compared the two enantiomeric forms of αPVP, the R- and the S-αPVP, with cocaine using a combination of in silico, in vitro and in vivo approaches. We found that αPVP enantiomers substantially differ from cocaine in their binding kinetics. The two enantiomers differ from each other in their association rates. However, they show similar slow dissociation rates leading to pseudo-irreversible binding kinetics at DAT. The pseudo-irreversible binding kinetics of αPVP is responsible for the observed non-competitive pharmacology and it correlates with persistent psychostimulant effects in mice. Thus, the slow binding kinetics of αPVP enantiomers profoundly differ from the fast kinetics of cocaine both in vitro and in vivo, suggesting drug-binding kinetics as a potential driver of psychostimulant effects in vivo.
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- 2021
18. 1283P Predicting PD-L1 expression using [18F]FDG PET/CT in early stage non-small cell lung cancer (NSCLC)
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Hughes, D.J., Josephides, E., O'Shea, R., Manickavasagar, T., Horst, C., Hunter, S., Taniere, P., Nonaka, D., Spicer, J., Goh, V., Bille, A., Karapanagiotou, E.M., and Cook, G.
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- 2023
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19. No protective order action against retirement community
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O'Shea, R.
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Restraining orders -- Laws, regulations and rules ,Depositions -- Laws, regulations and rules ,Government regulation ,Law ,News, opinion and commentary - Abstract
Byline: roshea Where plaintiff seeks to depose a representative of defendant Hickory Hill Retirement Community, defendant's motion for a protective order regarding some of the deposition topics is denied. Decision [...]
- Published
- 2020
20. How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens
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O'Shea, R, Rankin, NM, Kentwell, M, Gleeson, M, Salmon, L, Tucker, KM, Lewis, S, and Taylor, N
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Genetics & Heredity ,0604 Genetics, 1103 Clinical Sciences ,Australia ,Humans ,Breast Neoplasms ,Genetic Testing ,Qualitative Research ,Implementation Science - Abstract
PurposeThis study sought to determine genetics and oncology specialists' views of integrating BRCA1 and BRCA2 testing in epithelial ovarian and breast cancer into routine practice.MethodsQualitative interviews were designed using the Consolidated Framework for Implementation Research. Questions included experiences or views of the BRCA testing processes, implementation needs of oncology health professionals, perceived challenges, and future ideas for interventions to integrate genetic testing into oncology.ResultsTwenty-two participants were interviewed from twelve health organizations and four themes were identified: (1) embracing the shift to mainstream genetic testing, with the majority of participants viewing BRCA testing as clinically useful and routine use important for maintaining a patient centered process; (2) the need for communication networks and role delineation to integrate routine genetic testing; (3) factors that influence sustaining routine genetic testing, including ongoing training, resources and funding, real-world adaptation, system complexity, and champions; and (4) variation in system interventions for integrating routine genetic testing align to organizational context.ConclusionFindings illustrate the need for integrating genetic testing into routine oncology, and that adaptation of interventions and processes is essential to sustain a feasible model. An understanding of individual and organizational implementation factors will help to prepare for future integration of routine genetic testing in other cancers.
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- 2020
21. Online BRCA1/2 screening in the Australian Jewish community: a qualitative study
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Yuen, J, Cousens, N, Barlow-Stewart, K, O'Shea, R, and Andrews, L
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0604 Genetics - Abstract
Screening programmes for BRCA1/2 Jewish Founder mutations (JFM) in the Jewish community have been advocated internationally. Implementation of these programmes could decrease morbidity and mortality of BRCA1/2 JFM carriers through the uptake of cancer screening strategies and risk-reducing surgery. An online programme offered to the Sydney Jewish community that delivers pre-test information and collects consent for BRCA1/2 JFM testing via a website is currently being evaluated (JeneScreen). Forty-three participants from JeneScreen were invited to participate in a sub-study, of semi-structured pre- and post-result telephone interviews. Eleven participants consented to the sub-study. The interviews explored their experiences regarding the online model of obtaining pre-test genetic information, giving consent and receiving results. Inductive thematic analysis was carried out on the interviews. Overarching themes identified include (1) embracing online testing, (2) the online pre-test experience, (3) the result notification experience, (4) concerns associated with online testing and (5) testing as a responsibility. Overall, participants were highly satisfied with online BRCA1/2 JFM testing, an indication that the a website for pre-test information provision is an acceptable alternative to in-person genetic counselling for BRCA1/2 JFM screening and represents a feasible model for future community screening efforts.
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- 2019
22. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
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Aitken, Stuart, primary, Firth, Helen V., additional, McRae, Jeremy, additional, Halachev, Mihail, additional, Kini, Usha, additional, Parker, Michael J., additional, Lees, Melissa M., additional, Lachlan, Katherine, additional, Sarkar, Ajoy, additional, Joss, Shelagh, additional, Splitt, Miranda, additional, McKee, Shane, additional, Németh, Andrea H., additional, Scott, Richard H., additional, Wright, Caroline F., additional, Marsh, Joseph A., additional, Hurles, Matthew E., additional, FitzPatrick, David R., additional, Fitzgerald, T.W., additional, Gerety, S.S., additional, Jones, W.D., additional, van Kogelenberg, M., additional, King, D.A., additional, McRae, J., additional, Morley, K.I., additional, Parthiban, V., additional, Al-Turki, S., additional, Ambridge, K., additional, Barrett, D.M., additional, Bayzetinova, T., additional, Clayton, S., additional, Coomber, E.L., additional, Gribble, S., additional, Jones, P., additional, Krishnappa, N., additional, Mason, L.E., additional, Middleton, A., additional, Miller, R., additional, Prigmore, E., additional, Rajan, D., additional, Sifrim, A., additional, Tivey, A.R., additional, Ahmed, M., additional, Akawi, N., additional, Andrews, R., additional, Anjum, U., additional, Archer, H., additional, Armstrong, R., additional, Balasubramanian, M., additional, Banerjee, R., additional, Barelle, D., additional, Batstone, P., additional, Baty, D., additional, Bennett, C., additional, Berg, J., additional, Bernhard, B., additional, Bevan, A.P., additional, Blair, E., additional, Blyth, M., additional, Bohanna, D., additional, Bourdon, L., additional, Bourn, D., additional, Brady, A., additional, Bragin, E., additional, Brewer, C., additional, Brueton, L., additional, Brunstrom, K., additional, Bumpstead, S.J., additional, Bunyan, D.J., additional, Burn, J., additional, Burton, J., additional, Canham, N., additional, Castle, B., additional, Chandler, K., additional, Clasper, S., additional, Clayton-Smith, J., additional, Cole, T., additional, Collins, A., additional, Collinson, M.N., additional, Connell, F., additional, Cooper, N., additional, Cox, H., additional, Cresswell, L., additional, Cross, G., additional, Crow, Y., additional, D’Alessandro, P.M., additional, Dabir, T., additional, Davidson, R., additional, Davies, S., additional, Dean, J., additional, Deshpande, C., additional, Devlin, G., additional, Dixit, A., additional, Dominiczak, A., additional, Donnelly, C., additional, Donnelly, D., additional, Douglas, A., additional, Duncan, A., additional, Eason, J., additional, Edkins, S., additional, Ellard, S., additional, Ellis, P., additional, Elmslie, F., additional, Evans, K., additional, Everest, S., additional, Fendick, T., additional, Fisher, R., additional, Flinter, F., additional, Foulds, N., additional, Fryer, A., additional, Fu, B., additional, Gardiner, C., additional, Gaunt, L., additional, Ghali, N., additional, Gibbons, R., additional, Pereira, S.L. Gomes, additional, Goodship, J., additional, Goudie, D., additional, Gray, E., additional, Greene, P., additional, Greenhalgh, L., additional, Harrison, L., additional, Hawkins, R., additional, Hellens, S., additional, Henderson, A., additional, Hobson, E., additional, Holden, S., additional, Holder, S., additional, Hollingsworth, G., additional, Homfray, T., additional, Humphreys, M., additional, Hurst, J., additional, Ingram, S., additional, Irving, M., additional, Jarvis, J., additional, Jenkins, L., additional, Johnson, D., additional, Jones, D., additional, Jones, E., additional, Josifova, D., additional, Joss, S., additional, Kaemba, B., additional, Kazembe, S., additional, Kerr, B., additional, Kini, U., additional, Kinning, E., additional, Kirby, G., additional, Kirk, C., additional, Kivuva, E., additional, Kraus, A., additional, Kumar, D., additional, Lachlan, K., additional, Lam, W., additional, Lampe, A., additional, Langman, C., additional, Lees, M., additional, Lim, D., additional, Lowther, G., additional, Lynch, S.A., additional, Magee, A., additional, Maher, E., additional, Mansour, S., additional, Marks, K., additional, Martin, K., additional, Maye, U., additional, McCann, E., additional, McConnell, V., additional, McEntagart, M., additional, McGowan, R., additional, McKay, K., additional, McKee, S., additional, McMullan, D.J., additional, McNerlan, S., additional, Mehta, S., additional, Metcalfe, K., additional, Miles, E., additional, Mohammed, S., additional, Montgomery, T., additional, Moore, D., additional, Morgan, S., additional, Morris, A., additional, Morton, J., additional, Mugalaasi, H., additional, Murday, V., additional, Nevitt, L., additional, Newbury-Ecob, R., additional, Norman, A., additional, O’Shea, R., additional, Ogilvie, C., additional, Park, S., additional, Parker, M.J., additional, Patel, C., additional, Paterson, J., additional, Payne, S., additional, Phipps, J., additional, Pilz, D.T., additional, Porteous, D., additional, Pratt, N., additional, Prescott, K., additional, Price, S., additional, Pridham, A., additional, Proctor, A., additional, Purnell, H., additional, Ragge, N., additional, Rankin, J., additional, Raymond, L., additional, Rice, D., additional, Robert, L., additional, Roberts, E., additional, Roberts, G., additional, Roberts, J., additional, Roberts, P., additional, Ross, A., additional, Rosser, E., additional, Saggar, A., additional, Samant, S., additional, Sandford, R., additional, Sarkar, A., additional, Schweiger, S., additional, Scott, C., additional, Scott, R., additional, Selby, A., additional, Seller, A., additional, Sequeira, C., additional, Shannon, N., additional, Sharif, S., additional, Shaw-Smith, C., additional, Shearing, E., additional, Shears, D., additional, Simonic, I., additional, Simpkin, D., additional, Singzon, R., additional, Skitt, Z., additional, Smith, A., additional, Smith, B., additional, Smith, K., additional, Smithson, S., additional, Sneddon, L., additional, Splitt, M., additional, Squires, M., additional, Stewart, F., additional, Stewart, H., additional, Suri, M., additional, Sutton, V., additional, Swaminathan, G.J., additional, Sweeney, E., additional, Tatton-Brown, K., additional, Taylor, C., additional, Taylor, R., additional, Tein, M., additional, Temple, I.K., additional, Thomson, J., additional, Tolmie, J., additional, Torokwa, A., additional, Treacy, B., additional, Turner, C., additional, Turnpenny, P., additional, Tysoe, C., additional, Vandersteen, A., additional, Vasudevan, P., additional, Vogt, J., additional, Wakeling, E., additional, Walker, D., additional, Waters, J., additional, Weber, A., additional, Wellesley, D., additional, Whiteford, M., additional, Widaa, S., additional, Wilcox, S., additional, Williams, D., additional, Williams, N., additional, Woods, G., additional, Wragg, C., additional, Wright, M., additional, Yang, F., additional, Yau, M., additional, Carter, N.P., additional, Parker, M., additional, Firth, H.V., additional, FitzPatrick, D.R., additional, Wright, C.F., additional, Barrett, J.C., additional, and Hurles, M.E., additional
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- 2019
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23. Irish Perinatal Society Proceedings of Autumn Meeting held in Portlaoise, 22nd September, 1990
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Gleeson, N., Sheppard, B. L., Boyle, C., Daly, L., Bonnar, J., Wilson, D. C., Harper, A., McClure, G., Halladay, H. L., Hamilton, R. A., Dornan, J. C., Murnaghan, G., Boyd, W., Kelehan, P., O’Herlihy, C., Burke, G., Stuart, B., Crowley, P., Scanaill, S. Ni, Drumm, J., Nepalata, S. K., Lillis, D., Loftus, B. G., Aru, A., Murphy, J. F., Meagher, S., Garvey, M., Gorman, W. A., O’Brien, N., Donoghue, V. B., Wingfield, M., Turner, M. J., Stronge, J. M., Rfidah, H., Lambert, I., Moloney, A., Matthews, T., Clarke, T., O’Shea, R., Murphy, J. F. A., Gorman, W., Rfidah, E., Frankish, A., McElroy, L., Cottell, D., Ryan, M., Ashe, R. G., Gormally, S., Morrison, J., O’Regan, M., Daly, S., Keely, J., Matthews, T. G., Clarke, T. A., Conway, P. J. K., Gannon, M. J., Street, P., Holt, E. M., Hanna, J., Murphy, H., Ryan, D., Casey, F., Jenkins, J. G., Barry-Kinsella, C., Milner, M., and Harrison, R. F.
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- 1991
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24. Evidence for heterogenous glycine domains but conserved multiple states of the excitatory amino acid recognition site of the NMDA receptor: regional binding studies with [3H]glycine and [3H]L-glutamate
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O'Shea, R. D., Manallack, D. T., Conway, E. L., Mercer, L. D., and Beart, P. M.
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- 1991
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25. Irish perinatal society: Proceedings of Irish perinatal society autumn meeting, Portiuncula Hospital, Ballinasloe, September, 1989
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Corcoran, D., Clarke, T., Bergin, A., King, M., Matthews, T., McClelland, R., Woods, P., Serle, E., Turner, M. J., Barton, D. P. J., Robson, M. S., Rasmussen, M. J., Stronge, J. M., Hanrahan, D., Murphy, J., O’Brien, N., Gorman, W., Kelehan, P., Cullinane, C., Flannelly, G., Turner, M., Rasmussen, M., Stronge, J., Fuller, C., O’Keefe, M., Bowell, R., Murphy, J. F., Connolly, R., Fanagan, M., Turner, M. J., Rasmussen, M. J., Turner, J. E., Brassil, M. J., Boylan, P. C., McDonald, D., Keohane, C., Gray, F., Scaravilli, F., Deshpande, D., Clarke, T., Matthews, T., Gillen, J., Holohan, M., Browne, A. D. H., Gaughan, B., Rollins, M. D., Tubman, T. R. J., Halliday, H. L., Ashe, R. G., O’Donovan, P. A., Drumm, J. E., Cahill, D. J., Walsh, J. J., O’Connor, R., Walsh, M. E., O’Shea, R., Bourke, A. G., Gorman, W., Murphy, J. F., O’Brtien, N. G., Buckley, I. M., Farquharson, R., Kelehan, P., Fuller, C., Gorman, W., O’Keefe, M., Bowell, R., O’Brien, N., Murphy, J. F., Rasmussen, M. J., Turner, M. J., Connolly, R., Fanagan, M., Stronge, J. M., O’Dowd, M. J., Coffey, I. M., Brassil, M., Carr, C. J., Coulter-Smith, S., Clarke, T. A., Matthews, T. G., O’Hanrahan, D., Gorman, F., Griffin, E., and Counahan, R.
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- 1990
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26. ESTABLISHMENT OF SERUM-FREE CELL CULTURE MODELS TO STUDY ROLES AND REGULATION OF BRAIN GLUTAMATE TRANSPORTERS.
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O'Shea, R. D., Beart, P. M., and Aprico, K.
- Published
- 1999
27. The Impact of Specialized Gastroenterology Services for Late Pelvic Radiation Disease: Results from the Prospective Multicenter EAGLE Study
- Author
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Staffurth, J., primary, Sivell, S., additional, Ahmedzai, S., additional, Andreyev, J., additional, Farnell, D., additional, Green, J., additional, Sanders, D., additional, Ferguson, C.L., additional, Pickett, S., additional, Smith, L., additional, Cohen, D., additional, O'Shea, R., additional, Campbell, S., additional, Taylor, S., additional, and Nelson, A., additional
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- 2018
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28. S02. The Next Step in Cardiac Genetics: Targeted gene panels and next generation sequencing in inherited cardiac conditions
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Deeny, HA, Murphy, AM, O'Rourke, D, Gallagher, S, Rea, G, Ware, JS, Lightman, EG, Walsh, R, John, S, Homfray, T, Till, J, Prasad, S, Buchan, R, Wilkinson, S, Barton, PJR, Cook, SA, McVeigh, TP, Cody, N, Meany, M, Carroll, C, O'Shea, R, Gallagher, DJ, Clabby, C, Green, AJ, Casey, J, Crushell, E, Hughes, J, Losty, E, Slattery, D, Green, A, Ennis, S, Lynch, SA, Kirk, CW, McKee, S, Project, DDD, Al Shehhi, M, Shen, S, Gallagher, L, Betts, DR, McArdle, L, Quinn, EM, Coleman, C, Molloy, B, Dominguez Castro, P, Trimble, V, Mahmud, N, McManus, R, Jung, S, Salzman, D, Kerin, MJ, Nallur, S, Dookwah, M, Nemec, AA, Sadofsky, J, Paranjape, T, Kelly, O, Chan, E., Miller, N, Sweeney, KJ, Zelterman, D, Sweasy, J, Pilarski, R, Telesca, D, Weidhaas, JB, Stapleton, CP, McCormack, M, Connaughton, D, Phelan, PJ, Cavalleri, GL, Conlon, PJ, Gilbert, E, O'Reilly, S, Merrigan, M, McGettigan, D, Cavalleri, G, Heavin, SB, Slattery, L, Walley, N, Avbersek, A, Novy, J, Sinha, S, Alarts, N, Legros, B, Radtke, R, Doherty, C, Depondt, C, Sisodiya, S, Goldstein, D, Delanty, N, Nesbit, MA, Courtney, DG, Allen, EHA, Atkinson, SD, Maurizi, E, Moore, JE, Pedrioli, DM Leslie, McLean, WHI, Moore, CBT, Petyrka, J, Vieira, M, Donnelly, DE, O'Neill, T, Hardy, R, Morrison, PJ, Hegarty, M, Irvine, M, Dabir, T, Zhang, X, Dineen, T, Flanagan, J, Kovacs, A, Mihart, R, O'Callaghan, J, Culligan, J, Daly, N, McAuliffe, D, Waterstone, J, Owens, P, Guerin, C, Quill, D, Bell, M, Lowery, AJ, Bradley, L, Barton, DE, Matthews, J, Turner, J, O'Byrne, JJ, Fitzsimons, PE, Unger, S, Croft, J, Mayne, PD, Moylette, E, McDonnell, C, Parker, VE, Al-Shehhi, M, Kelly, PM, Costigan, C, Hegarty, A, Knox, R, Byrne, S, Semple, LRK., Irvine, A, McDaid, J, Ryan, H, Dunne, A, Lambert, DM, Treacy, EP, Lynch, SM, McKenna, MM, Walsh, CP, McKenna, DJ, Whitton, L, Cosgrove, D, Clarkson, C, Gill, M, Corvin, A, Rea, S, Donohoe, G, Morris, D, Neville, J, Ryan, AM, Hand, CK, Ryan, E, Ryan, F, Barton, D, O'Dwyer, V, Neylan, D, Nesbitt, H, Byrne, NM, Worthington, J, Mc Keown, SR, Mc Kenna, DJ, Harold, D, Holland, J, Mothershill, O, Allen, EH, Leslie Pedrioli, DM, Courtney, D, Cole, A, Cox, S, Jeong, C, Droma, Y, Hanaoka, M, Ota, M, Gasparini, P, Montgomery, H, Di Rienzo, A, Robbins, P, L. Cavalleri, G, Heavin, S, Buckley, P, Irwin, RE, Thakur, A, O’ Neill, KM, Cummins, Paul, Mackin, SJ, O'Neill, K, Walsh, C, Schiroli, D, Mulligan, R, Sebag, F, Ozaki, M, Molloy, AM, Mills, JL, Fan, R, Wang, Y, Gibney, ER, Shane, B, Brody, LC, Parle-Mcdermott, A, O'Halloran, ET, Ebrahim, A, Meydan, C, Mason, C, and Magalhães, TR
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Poster Presentations ,Abstracts ,Programme ,Spoken Papers - Abstract
Aims The Irish DNA Atlas is a DNA collection being assembled with the aim of describing the fine-scale population structure in Ireland. Understanding such structure can inform on optimal design of clinical genetic studies as well as the history of the Irish population. We will present an overview of and the preliminary findings from the study. Methods We are recruiting individuals with all eight greatgrandparents born in Ireland, within 30 kilometres of each other. Participants are asked to complete a detailed birth-brief, which records place and date of birth of three generations of ancestors. We also collect some basic health-related details. DNA is extracted from a saliva sample. We have genotyped using an Illumina OmniExpressdense SNP genotyping platform. We present a number of analyses designed to visualise genetic structure, including; Principle Component, ADMIXTURE, and Runs of Homozygosity analysis. Results To date we have recruited 162 participants. The mean great-grandparental area is 32 kilometres, with an average greatgrandparental date of birth of 1850. Therefore the individuals in the Atlas provide insight to the genetic landscape of Ireland before significant movement of people from the 20th century onwards. An analysis of dense genotyping data from 142participants shows that the Atlas participants cluster closely with British individuals in a Europe wide PCA, but present different ancestral population components when compared with British, and other European populations. Irish individuals also present slightly higher levels of homozygosity relative to mainland European levels. PCA targeted at specific areas of interest within Ireland also hint at fine-scale substructure. Conclusion Ireland shows typical features of a homogenous population, well suited to the study of rare variation in disease risk., Background Progress in diagnostic and therapeutic strategies in medicine is dependent upon high-quality biomedical research. Translation of research findings into the clinic relies on patient participation in innovative clinical trials. We investigated attitudes to genetic research in Ireland, in particular with respect to commercial and financial implications. Methods A multi-centre cross-sectional survey study was performed. Consecutive patients attending four out-patient clinics were asked to complete paper-based questionnaires. An electronic version of the same questionnaire was created on Survey Monkey with a link made public on a social media website for a period of 24 hours. Data was analysed using SPSS. Results 351 questionnaires were completed (99 paper, 252 electronic). The majority of respondents were female (n = 288, 82%), and highly educated, with 244 (70%) attending college/university. Most participants supported genetic research (267, 76%), more frequently for common diseases (274, 78%) than rare disorders (204, 58%, p < 0.001, x2). 103 (29%) had participated in scientific research, and 57(16%) had donated material to a bio-bank. The majority (n = 213, 61%) would not support research with potential financial/commercial gain. 106(30%) would decline to participate in research if researchers would benefit financially, compared to 49(14%) if the research was supported by a pharmaceutical company, (p < 0.001, x2). Respondents would provide buccal samples (258, 74%) more readily than tissue (225, 64%) or blood (222, 63%). Conclusion A high level of support for genetic research exists among the Irish population, but active participation is dependent upon a number of factors, notably, type of biological material required, frequency of the disease in question, and commercial interest of the researchers., Introduction Although the etiology of schizophrenia (SZ) is largely unknown, it is increasingly clear that genetic and environmental interactions contribute to cognitive deficits associated with this disorder. Recent Genome wide association studies (GWAS) have indicated a link between SZ and immune dysregulation, especially genetic mutations related to the major histocompatibility complex (MHC). Cognitive deficits are core features of Schizophrenia and related disorders, which relate to genetic risk. This study aims to explore the relationship between MHC risk variants for SZ and cognitive deficits, while also relating findings to brain activity. Methods To test if MHC risk variants impair cognition, ANCOVA analysis is performed on genetics data previously collected in a GWAS. Cognition measures are compared in groups with and without MHC genetic risk, in a population of SZ sufferers and healthy controls. Functional MRI imaging will also be performed to test if genetic risk relates to altered neural activity. Results Preliminary analyses suggest that MHC risk variants contribute to impairments in cognition in domains of social cognition, IQ and attention. Further analysis will be performed to test for environmental mediators of this relationship, looking at cannabis use and urbanicity. BOLD fMRI will also be used to test for a relationship between MHC risk and altered neural activity, using MATLAB SPM. Conclusions The MHC genetic variant may serve as a significant risk marker for schizophrenia, and further elucidate etiology of this neurodevelopmental disorder. Future studies on neurobiology of social cognition, and greater knowledge of genetic risk may establish targets for interventions., Aim To create a bioluminescence mouse model which expresses firefly luciferase in the corneal epithelium to assess gene editing and gene silencing for the cornea. Methods A gene targeting vector was generated where the Krt12 coding sequence in and the splice donor site of exon 1 were replaced with a transgene cassette containing a luc2-Multiple Targeting Cassette (MTC) gene fusion. The vector was transfected by electroporation into the Taconic Artemis C57BL/6N Tac ES cell line. Homologous recombinant clones were isolated and validated, and the mice bred with luc2-positive/ PuroR-negative offspring used for colony establishment. To visualise the expression of luc2 within the corneal epithelium, luciferin substrate diluted in viscotears was applied to the front of the eye and then luciferase expression was imaged and assessed using a Xenogen IVIS Lumina Imager and LivingImage 3.2 software. Intrastromal injection of siGlo siRNA was used to determine the localisation of siRNA within the corneal epithelium and then the established mouse model was treated with either native or Accell “self-delivery” siRNA. Results The Accell “self-delivery” siRNA induced potent sustained allele specific silencing for 7 days, while native versions of siRNA resulted in significant knock-down for 1 day only (p < 0.05). We have created and validated a bioluminescence mouse model and have utilised it to assess siRNA in vivo. This mouse model coupled with the Lumina imager will allow us to assess topical delivery of gene therapies to the ocular surface allowing validation for future translation to clinical use., Background Methylation of DNA sequences at promoters, CpG islands and other elements plays a vital role in regulating gene activity. In human, loss of methylation is known to play a causative role in imprinting disorders and in inappropriate germline gene expression in cancers. While in mouse, loss of function mutants have given great insight into the targets of methylation, functional studies in human have been largely limited to cancer cells and more recently stem cells, not normal adult cells. Methods Stable knockdowns of the maintenance methyltransferase DNMT1 were generated in normosomic hTERT-immortalised adult fibroblasts. Genome-wide methylation levels were assayed using the Illumina 450K bead array. Results were analysed using RnBeads and Galaxy. Locusspecific methylation was verified using pyrosequencing and clonal analysis. Validation was achieved using transient siRNA. Results Loss of function was poorly tolerated and all clonally-expanded cell lines had spontaneously restored DNMT1 levels by silencing of the shRNA. Evidence for a genome-wide methylation erasure event followed by a wave of remethylation could be clearly traced. Gene bodies and the shores of CpG islands showed the clearest loss of methylation overall. While most CpG islands are normally unmethylated and so unaffected, both imprints and germline genes fall into the rarer category of normally methylated islands: of these two, lasting loss of methylation was much more common among imprints than germline genes. Conclusions 1: transient loss of methylation is poorly tolerated; 2: a robust mechanism for remethylation exists even in adult cells; 3: aberrant remethylation is frequent on recovery and 4: Imprints are particularly sensitive., Background Dihydrofolate reductase (DHFR) is essential for the conversion of folic acid to active folate needed for one-carbon metabolism. Common genetic variation within DHFR is restricted to the noncoding regions and previous studies have focused on a 19 bp deletion/insertion polymorphism (rs70991108) within intron 1. Reports of an association between this polymorphism and blood folate biomarker concentrations are conflicting. Objective We aimed to evaluate whether the DHFR 19bp deletion/ insertion polymorphism affects circulating folate biomarkers in the largest cohort to address this question to date. Methods Young healthy Irish individuals (n= 2,507) between 19 to 36 years old were recruited between February 2003 and 2004. Folic acid intake from supplements and fortified foods was assessed using a customized food intake questionnaire. Concentrations of serum folate and vitamin B-12, red blood cell (RBC) folate and plasma total homocysteine (tHcy) concentration were measured. Data were analysed using linear regression models. Results Folic acid intake was positively associated with serum (P 326μg folic acid/day; P = 0.96). A non-significant trend towards lower RBC folate by genotype (P = 0.09) was observed in the lowest folic acid intake quintile (0 – 51 μg/day). Conclusion In this cohort of young healthy individuals the DHFR 19bp deletion allele does not significantly affect circulating folate status, irrespective of folic acid intake. Our data rule out a strong functional effect of this polymorphism on blood folate concentrations.
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29. Not foreign to each other: Commonwealth Prime Ministers' Conferences 1944-1969
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O'Shea, R and Darwin, J
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The Commonwealth Prime Ministers' Conferences were a unique experiment. They were an attempt at an intermediate mode of multilateral relations: members were no longer bound in an imperial hierarchy, nor were they fully foreign. A conscious effort was made to position the Commonwealth as a family, and the Conferences as their periodic reunion. Avoiding a 'diplomatic' culture at the Conferences in favour of a familial veneer allowed participants to claim that binding resolutions were not necessary and that meaningful cooperation could occur by consensus. This appeared to offer potential for forging a 'third way' between superpower blocs in a Cold War environment. This thesis makes an important contribution to the existing Commonwealth literature as the Conferences were the core structure of the Commonwealth until the formation of the Commonwealth Secretariat in 1965, yet have never been the subject of a full-length study. The thesis also engages with the concept of the 'British world', arguing that the Conferences had a major role in projecting British 'soft power' once martial or economic hegemony proved impracticable. By drawing on archival sources in eight Commonwealth countries, this thesis shows that the Conferences were effective in facilitating discussions on flashpoint topics such as white minority rule in South Africa and Rhodesia, even if the Commonwealth failed to fulfil hopes that it would remain an important international grouping. The study also has contemporary relevance, given that the Conferences continue as Commonwealth Heads of Government Meetings, and that questions of transnational identity and 'foreignness' continue to shape debates over Britain's relationship with Europe and its 'world role'.
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- 2017
30. MUTYH-Associated Polyposis: The Irish Experience
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Terri McVeigh, Duff M, Carroll C, O'Shea R, Bradley L, Farrell M, Dj, Gallagher, Clabby C, and Aj, Green
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Phenotype ,Adenomatous Polyposis Coli ,Genotype ,Incidence ,Mutation ,Humans ,Intestinal Polyps ,Genetic Predisposition to Disease ,Colorectal Neoplasms ,Ireland ,DNA Glycosylases ,Retrospective Studies - Abstract
MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common European MUTYH mutations account for 90% of MUTYH-associated polyposis (MAP). We aimed to examine the incidence of MAP in Ireland. A retrospective cohort study was undertaken. Patients undergoing MUTYH testing from 2003-2016 were identified by searching electronic databases using terms "MUTYH" and "MYH". Phenotypic and genotypic details were obtained by chart review. Bi-allelic mutations were confirmed in 26 individuals (17 families), of whom 16 (62%) developed colorectal malignancies, and 22(85%) polyposis. Eleven families had bi-allelic status for one/both common European mutations. Regional variation was noted, with over-representation of bi-allelic mutation carriers in the South-west of Ireland. MAP is under-diagnosed in Ireland. Increased awareness is required to facilitate appropriate identification and surveillance of bi-allelic mutation carriers for colorectal pathology.
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- 2017
31. Prevalence and architecture of de novo mutations in developmental disorders
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McRae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Banka, S, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McKee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O’Shea, R, Ogilvie, C, Ong, K-R, Park, S-M, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Vogt, J, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellåker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, and Hurles, ME
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Male ,Parents ,Heredity ,Developmental Disabilities ,GRIN2B ,POGZ ,Autoantigens ,SMAD4 ,CASK ,GATAD2B ,0302 clinical medicine ,TRIO ,SMARCA2 ,KCNH1 ,Average Faces ,CTNNB1 ,SCN1A ,Young adult ,Casein Kinase II ,Child ,AUTS2 ,MEF2C ,Exome ,ADNP ,Exome sequencing ,EP300 ,KCNQ2 ,KCNQ3 ,EHMT1 ,CNKSR2 ,CREBBP ,MYT1L ,MED13L ,CSNK2A1 ,Protein Phosphatase 2C ,PPP2R1A ,ZBTB18 ,CDKL5 ,WAC ,HNRNPU ,Cohort ,STXBP1 ,Medical genetics ,SYNGAP1 ,Mi-2 Nucleosome Remodeling and Deacetylase Complex ,Sex characteristics ,AHDC1 ,SCN8A ,medicine.medical_specialty ,SLC6A1 ,FOXP1 ,USP9X ,Article ,ANKRD11 ,PUF60 ,BRAF ,03 medical and health sciences ,SATB2 ,SMC1A ,Intellectual Disability ,BCL11A ,GABRB3 ,IQSEC2 ,Humans ,TBL1XR1 ,TCF4 ,MSL3 ,TCF20 ,DNM1 ,EEF1A2 ,SUV420H1 ,DYRK1A ,SETD5 ,COL4A3BP ,CTCF ,CHD2 ,R1 ,CHD4 ,030104 developmental biology ,NAA10 ,HDAC8 ,Mutation ,KDM5B ,CHAMP1 ,PhenIcons ,030217 neurology & neurosurgery ,Transcription Factors ,0301 basic medicine ,ZMYND11 ,PTEN ,De novo mutation ,Chromosomal Proteins, Non-Histone ,PTPN11 ,ASXL1 ,Bioinformatics ,medicine.disease_cause ,ASXL3 ,Cohort Studies ,DEAD-box RNA Helicases ,CHD8 ,Prevalence ,QRICH1 ,KIF1A ,Genetics ,Sex Characteristics ,GNAI1 ,Multidisciplinary ,WDR45 ,Middle Aged ,KMT2A ,PPM1D ,MECP2 ,DNA-Binding Proteins ,PPP2R5D ,Phenotype ,PACS1 ,ras GTPase-Activating Proteins ,DDX3X ,Female ,FOXG1 ,SET ,Myeloid-Lymphoid Leukemia Protein ,Developmental Disease ,Adult ,KANSL1 ,Adolescent ,NFIX ,Nerve Tissue Proteins ,PURA ,Biology ,KAT6B ,KAT6A ,NSD1 ,PDHA1 ,ALG13 ,Young Adult ,Seizures ,CDC2 Protein Kinase ,medicine ,Journal Article ,QH426 ,Homeodomain Proteins ,ITPR1 ,DYNC1H1 ,GNAO1 ,Histone-Lysine N-Methyltransferase ,Sequence Analysis, DNA ,ZC4H2 ,ARID1B ,Repressor Proteins ,CNOT3 ,SCN2A ,SLC35A2 ,CDK13 - Abstract
Children with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,294 families with children with DDs, and meta-analysed these data with published data on 3,287 children with similar disorders. We show that the most significant factors influencing the diagnostic yield of de novo mutations are the sex of the child, the relatedness of their parents and the age of both father and mother. We identified 95 genes enriched for damaging de novo mutation at genome-wide significance (P < 5 x 10-7), including fourteen genes for which compelling data for causation was previously lacking. The large number of genome-wide significant findings allow us to demonstrate that, at current cost differentials, exome sequencing has much greater power than genome sequencing for novel gene discovery in genetically heterogeneous disorders. We estimate that 42.5% of our cohort likely carry pathogenic de novo single nucleotide variants (SNVs) and indels in coding sequences, with approximately half operating by a loss-of-function mechanism, and the remainder being gain-of-function. We established that most haploinsufficient developmental disorders have already been identified, but that many gain-of-function disorders remain to be discovered. Extrapolating from the DDD cohort to the general population, we estimate that de novo dominant developmental disorders have an average birth prevalence of 1 in 168 to 1 in 377, depending on parental age.
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- 2017
32. Techno-Economic Optimisation of Combined Anaerobic Digestion and Gasification of Food Waste as Part of an Integrated Waste Management and Energy System
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Singlitico, A., Dussan, K., O’shea, R., David Wall, Goggins, J., Murphy, J., and Monaghan, R. F. D.
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Biomass - Abstract
Ireland produces 642,000 t of separated household organic waste or “food waste” annually. In 2016, only 420,000 t of biodegradable waste was permitted to landfill following the EU Directive 1999/31/EC. Growing population and restrictive directives are making landfills unfeasible. Anaerobic digestion (AD) offers an initial waste management measure of food waste (organic fraction of municipal solid waste). Gasification is an attractive process that can extract the remaining energy in the waste and reduce the final volume. This work explores the use of a food waste treatment network in Ireland in which AD and gasification are integrated with cogeneration of heat and electricity in a waste-to-energy national scheme. This work includes a parametric optimisation of AD and gasification of food waste based on experimental data and process modelling. A Geographic Information System algorithm locates and designs facilities for waste treatment, distribution and conversion to energy that minimise the energy involved in transporting food waste to treatment facilities. A techno-economic evaluation of the system is performed that minimises the levelised cost of power generation and maximises the energy output. This work presents the benefits of this waste-to-energy network and provides a sustainable alternative to current waste management practices in Ireland and other regions where landfills and other methods are environmentally harmful., Proceedings of the 25th European Biomass Conference and Exhibition, 12-15 June 2017, Stockholm, Sweden, pp. 96-105
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- 2017
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33. Large-scale discovery of novel genetic causes of developmental disorders
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Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Baralle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D'Alessandro, M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Pereira, S.L.G., Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O'Shea, R., Ogilvie, C., Park, S., Parker, M.J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Procter, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweier, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Shanrif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C., Hurles, M.E., and The Deciphering Developmental Disorders Study, .
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Male ,Parents ,Chromosomal Proteins, Non-Histone ,Developmental Disabilities ,Transposases ,SYNGAP1 ,medicine.disease_cause ,Bioinformatics ,DEAD-box RNA Helicases ,0302 clinical medicine ,Guanine Nucleotide Exchange Factors ,Missense mutation ,Exome ,Protein Phosphatase 2 ,Child ,Dynamin I ,Zebrafish ,Exome sequencing ,Genes, Dominant ,Polycomb Repressive Complex 1 ,0303 health sciences ,Mutation ,Multidisciplinary ,Gene Expression Regulation, Developmental ,Nuclear Proteins ,DNA-Binding Proteins ,Child, Preschool ,Female ,Adolescent ,Mutation, Missense ,Nerve Tissue Proteins ,Protein Serine-Threonine Kinases ,Biology ,Article ,03 medical and health sciences ,Rare Diseases ,medicine ,Animals ,Humans ,030304 developmental biology ,Chromosome Aberrations ,Homeodomain Proteins ,Genome, Human ,Mechanism (biology) ,Infant, Newborn ,Infant ,Phosphoproteins ,United Kingdom ,Human genetics ,Repressor Proteins ,Human genome ,Carrier Proteins ,030217 neurology & neurosurgery ,Transcription Factors - Abstract
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders1, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Particularly challenging are those disorders rare enough to have eluded recognition as a discrete clinical entity, those with highly variable clinical manifestations, and those that are difficult to distinguish from other, very similar, disorders. Here we demonstrate the power of using an unbiased genotype-driven approach2 to identify subsets of patients with similar disorders. By studying 1,133 children with severe, undiagnosed developmental disorders, and their parents, using a combination of exome sequencing3,4,5,6,7,8,9,10,11 and array-based detection of chromosomal rearrangements, we discovered 12 novel genes associated with developmental disorders. These newly implicated genes increase by 10% (from 28% to 31%) the proportion of children that could be diagnosed. Clustering of missense mutations in six of these newly implicated genes suggests that normal development is being perturbed by an activating or dominant-negative mechanism. Our findings demonstrate the value of adopting a comprehensive strategy, both genome-wide and nationwide, to elucidate the underlying causes of rare genetic disorders.
- Published
- 2015
34. Radiologically inserted gastrostomy tubes in head and neck cancer patients – demographics, treatment modality and complication rates – our experience over three years in 101 consecutive cases
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Tuckett, J., primary, O'Shea, R., additional, Hevers, A., additional, Perrot, L., additional, Byrne, H., additional, Murphy, M., additional, and Sheahan, P., additional
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- 2015
- Full Text
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35. Impact of current smoking and alcohol on gastrostomy duration in patients with head and neck cancer undergoing definitive chemoradiotherapy
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Tuckett, J., primary, O'Shea, R., additional, Byrne, H., additional, Taylor, E., additional, O’Leary, G., additional, and Sheahan, P., additional
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- 2015
- Full Text
- View/download PDF
36. 2013 Report on the State of the Art of Rare Disease Activities in Europe (Ireland)
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Harkin J. D., Harkin A. M., Mulroe E., Watt P., O’Shea R., Gomez-Paramio I., Green A. and Barton D. E. and Aymé S., Rodwell C., eds.
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EUCERD Rare Diseases Orphanet - Abstract
This document has been produced by the Scientific Secretariat of the European Union Committee ofExperts on Rare Diseases (EUCERD, formerly the European Commission’s Rare Diseases Task Force)through the EUCERD Joint Action: Working for Rare Diseases (N° 2011 22 01, Coordinator: KateBushby, University of Newcastle, United Kingdom), within the European Union’s Second Programmeof Community Action in the Field of Health. More information on the European Union Committee of Experts on Rare Diseases can be found atwww.eucerd.eu.
- Published
- 2013
37. DVD Versus Physiotherapist-Led Inhaler Education: A Randomised Controlled Trial.
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Khan, R., Yasin, F., O'Neill, S., Cahalane, E., O'Shea, R., Browne, B., Cournane, J., Rand, S., and Shannon, H.
- Published
- 2018
38. Next generation sequencing is informing phenotype: a TP53 example.
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O’Shea, R., Clarke, R., Berkley, E., Giffney, C., Farrell, M., O’Donovan, E., and Gallagher, D. J.
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The increased availability of next generation sequencing (NGS) and multi gene panel testing has resulted in more frequent TP53 testing of families that do not meet classic testing criteria. We investigated testing criteria, family history and result outcome in a cohort of Irish probands undergoing TP53 full sequencing. All TP53 test requests processed through the national genetic testing laboratory between 2012 and 2014 were retrospectively reviewed. Personal and family cancer histories were collected, including tumour type and age at diagnosis, from two adult cancer genetic services in Ireland. Association between Li Fraumeni syndrome (LFS) or Li Fraumeni like syndrome (LFL) criteria and test result was examined. One hundred and 35 TP53 test requests were identified. Family history data and test results were available on 123 of the TP53 test requests (118 female; 5 male). 59/123 (48%) did not meet classic LFS or LFL criteria. Two individuals from this group harboured pathogenic TP53 mutations, giving a 3% mutation detection rate in those not meeting testing criteria. Both were female and had a personal history of early onset bilateral breast cancer with no reported LFS cancers in the family. 64/123 (52%) met LFS or LFL criteria and were all TP53 negative. 37/64 (57.8%) met Chompret criteria, 19/64 (29.7%) met Eeles and 7/64 (10.9%) met Eeles and Chompret and 1/64 (1.6%) met Classic LFS criteria. Stringent testing criteria miss germline mutations in TP53. Broadening the criteria for TP53 testing may improve our understanding of the phenotype and penetrance in the association syndrome. [ABSTRACT FROM AUTHOR]
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- 2018
- Full Text
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39. P0144 : Two testing strategies for covert hepatic encephalopathy diagnosis stabilizes agreement between sites in a multi-center analysis: validation of the EASL/AASLD he guidelines
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Allampati, S., primary, Duarte-Rojo, A., additional, Thacker, L., additional, White, M., additional, Unser, A., additional, Gavis, E., additional, Hovermale, J., additional, Heuman, D.M., additional, John, B., additional, Klair, J.S., additional, Flud, C., additional, O'Shea, R., additional, and Bajaj, J.S., additional
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- 2015
- Full Text
- View/download PDF
40. P.2.f.015 Biomarkers of the rapid clinical response to ketamine in treatment-resistant depression: focus on kynurenine
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Clarke, G., primary, Naughton, M., additional, O'Shea, R., additional, Dowling, J., additional, Walsh, A., additional, Ismail, F., additional, Shorten, G., additional, Scott, L., additional, Cryan, J.F., additional, and Dinan, T.G., additional
- Published
- 2014
- Full Text
- View/download PDF
41. Ecologically valid cognitive tests and everyday functioning in euthymic bipolar disorder patients
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O'Shea, R., Poz, R., Michael, A., Berrios, G.E., Evans, J.J., and Rubinsztein, J.S.
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- 2010
- Full Text
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42. The Western New York Health Resources Project: developing access to local health information
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Gray, S A, O'Shea, R, Petty, M E, and Loonsk, J
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New York ,Database Management Systems ,Health Resources ,Humans ,Health Education ,Online Systems ,United States ,Research Article ,Information Systems - Abstract
The Western New York Health Resources Project was created to fill a gap in online access to local health information resources describing the health of a defined geographic area. The project sought to identify and describe information scattered among many institutions, agencies, and individuals, and to create a database that would be widely accessible. The project proceeded in three phases with initial phases supported by grant funding. This paper describes the database development and selection of content, and concludes that a national online network of local health data representing the various geographic regions of the United States would contribute to the quality of health care in general.
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- 1998
43. Case note survey of T2D patients prescribed incretin therapies according to current recommendations in clinical practice
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Evans, M., primary, McEwan, P., additional, O'Shea, R., additional, George, L., additional, Svendsen, C., additional, and Clarke, A., additional
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- 2013
- Full Text
- View/download PDF
44. Predicting binocular rivalry alternations from brain activity
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O'Shea, R. P., primary, Roeber, U., additional, and Kornmeier, J., additional
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- 2012
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45. Neural correlates of adaptation within an episode of binocular-rivalry suppression
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Roeber, U., primary and O'Shea, R. P., additional
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- 2012
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46. LETTERS
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O'Shea, R. Martin, Golding, Joan, Coleman, Polly Barnes, Maddocks, Bob, Wilson, Woodrow, Jr., Carey, Ruth, and Akers, Louise
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General interest ,News, opinion and commentary - Published
- 2005
47. 204: Differential Survival From In-Hospital Cardiac Arrests: Days vs Nights and Weekends
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Henderson, S.O., primary, Hatch, L.D., additional, and O'Shea, R., additional
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- 2008
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48. Probing visual consciousness: Rivalry between eyes and images
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Bhardwaj, R., primary, O'Shea, R. P., additional, Alais, D., additional, and Parker, A., additional
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- 2008
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49. Large-scale study of freedom from smoking clinics--factors in quitting
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Rosenbaum, P and O'Shea, R
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Adult ,Male ,Adolescent ,behavior and behavior mechanisms ,Humans ,Social Support ,Female ,Smoking Cessation ,Middle Aged ,Research Article ,Aged - Abstract
The American Lung Association's Freedom From Smoking Clinics are widely available in the community and at the worksite for smokers who wish the help of a formal group program in quitting the habit. Little has been published on their outcomes. A study of 494 smokers attending 42 Freedom From Smoking Clinics in western New York State showed that 29 percent reported not smoking about 1 year after attending the clinic sessions. There was a wide range of quit rates over different clinics, but the rates were similar for men and women and for different age groups. Those initially smoking less than one pack per day were more likely to be successful in quitting than heavier smokers. Quit rates were similar in work site groups and in the community clinics. Perceptions of having received group support at the clinic were also related to higher success rates. Research on group composition and process might be a fruitful road to raising what seems to be a ceiling on the success of current techniques.
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- 1992
50. Chronic hepatitis B virus infection: issues in treatment.
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O'Shea, R., primary
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- 2007
- Full Text
- View/download PDF
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