OP02. Interrogating and correcting fine‐scale genetic structure in large (>36,000 samples) GWAS datasets using scalable haplotype sharing methods

Autor: Gilbert, Edmund, O’Reilly, Seamus, Merrigan, Michael, McGettingan, Darren, Vitart, Veronique, Joshi, Peter K, Clark, David W, Campbell, Harry, Hayward, Caroline, Ring, Susan M, Golding, Jean, Goodfellow, Stephanie, Navarro, Pau, Kerr, Shona M, Amador, Carmen, Campbell, Archie, Haley, Chris S, Porteous, David J, Cavalleri, Gianpiero L, Wilson, James F, Byrne, RP, van Rheenen, W, Veldink, JH, McLaughlin, RL, Fitzgerald, Joan, Fahey, Laura, Whitton, Laura, Donohoe, Gary, Morris, Derek W, Smyth, LJ, Wooster, C, Kilner, J, Kee, F, Young, I, McGuinness, B, Maxwell, AP, McKay, GJ, McKnight, AJ, Maloney, DM, Chadderton, N, Millington-Ward, S, Farrar, GJ, Lambert, DM, Nguengang-Wakap, S, Olry, A, Rath, A, Murphy, D, Lynch, SA, Treacy, EP, Gunne, E, McGarvey, C, Hamilton, K, Savage, S, Rasheed, E, Rashid, A, Keogh, E, MacNamara, B, Collison, C, Brazil, N, Whatley, S, Crowley, VEF, Murphy, DN, Turner, J, Doyle, Samantha, Abidin, Zaza, Senanayake, Suranga, James, Stephanie, Yap, Mei, Hart, Caroline, Crushell, Ellen, Smyth, Shane, Green, Andrew, Treacy, Eileen, Lynch, Tim, Pastores, Gregory, Laffan, Aoife, O’Byrne, James, Palfi, A, Yesmambetov, A, Ormond, CM, Ryan, NM, Heron, EA, Gill, M, Corvin, AP, Kelly, CM, Doherty, MA, Hengeveld, JC, Campbell, C, Leu, C, Delanty, N, Lal, D, Cavalleri, GL, Angel, CZ, McNally, CJ, McKenna, DJ, Breslin, EM, Cassidy, LM, Martiniano, R, Mattiangeli, V, Silva, AM, Bradley, DG, Kearney, H, Balagura, G, Lewis-Smith, D, Ganesan, S, Gan, J, Galer, PD, Wang, Y, Tan, NCK, Lench, NJ, Steward, CA, Krause, R, Robinson, P, Helbig, I, Finnegan, LK, Kenna, P, Carty, M, Bowie, AG, Whelan, L, Dockery, A, Kenna, PF, Keegan, D, Silvestri, G, Khan, M, Cornelis, SS, Dhaenens, CM, Humphries, P, Cremers, FPM, Roosing, S, Broin, Pilib Ó, Morris, Derek, McVeigh, Úna M, McVeigh, Terri P, Miller, Nicola, Kerin, Michael J, Flaus, Andrew, Irwin, RE, Thursby, SJ, Ondičová, M, Pentieva, K, McNulty, H, Richmond, C, Caffrey, A, Lees-Murdock, DJ, McLaughlin, M, Cassidy, T, Suderman, M, Relton, CL, Walsh, CP, Carrigan, M, Maloney, D, Hanlon, K, Bookey, N, Drago, P, Parle-McDermott, A, Flynn, PM, Toulouse, A, Bermingham, N, Jansen, M, Hand, CK, Skelly, RD, Cole, J, Berkeley, M, Dinneen, Thomas, O’Cónail, A, Kirov, George, Lopez, Lorna M, Gallagher, Louise, Ning, Z, Williams, JM, Kumari, R, Baranov, PV, Moore, T, Bhandari, Sushil, Hillman, Sara, Dolma, Padma, Mukerji, Mitali, Prasher, Bhavana, Montgomery, Hugh E., Gunne, EA, Ward, A, Treacy, E, Lambert, D, Benson, KA, Murray, S, Senum, SR, Kennedy, C, Yachnin, K, Gangadharan, N, Harris, PC, Conlon, P, Zhu, J, Wynne, N, McKenna, C, Humphreys, M, McNerlan, S, Dabir, T, Rea, G, Morrison, PJ, Donnelly, DE, Jeffers, L, Sasaki, E, Kelly, H, Hayes, B, Ryan, K, Carolan, E, Betts, D, Green, A, Sheerin, A, Grabowsky, L, James, S, Senanayake, S, Abidin, Z, O’Byrne, J, Pastores, G, McConnell, V, Bradley, L, Reid, J, Fitzsimons, D, Dempster, M, Pentony, Michaela, Bradley, Lisa, Connor, Pamela O’, Kirk, Claire W, Donnelly, Deirdre E, Hardy, Rachel, Shepherd, Charles W, Morrison, Patrick J, Doyle, S, McVeigh, T, O’Byrne, JJ, Senanayake, SL, Sadok, S, Pastores, GM, Forde, R, Rakovac, A, Abdelfadil, S, Mac Namara, B, O’Connor, P, Heggarty, S, Hart, P, Morgan, NE, Dorris, E, Cummins, E, Adeeb, F, Taylor, C, Savic, S, Killeen, O, Fraser, A, Wilson, AG, Murphy, Jane, Kirk, Claire, Prendiville, Terence, Ward, Deirdre, Galvin, Joseph, Lynch, Sally Ann, Carroll, C, Kirk, C, Murphy, J, Duff, M, Mooney, E, Clark, T, King, C, Fallah, L, Hinde, J

Publikováno v: The Ulster Medical Journal

Background Age-related cognitive decline results in increased difficulty in performing tasks that require memory or rapid information processing. Cognitive resilience is the ability to withstand the negative effects of stress on cognitive functioning

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::3eecc81c898a75d048206c6167b78e50
http://europepmc.org/articles/PMC7027180

The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study

Autor: Donnelly, Deirdre E, McConnell, Vivienne, Paterson, Anne, Morrison, Patrick J

Publikováno v: The Ulster Medical Journal

The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 year period.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::63a7dd185ac32e00ce48e70139cbd27c
http://europepmc.org/articles/PMC3284715

S02. Determination of the contribution of H63D/H63D genotype to iron overload, and validation of a dual hybridisation probe assay for detecting HFE genes

Autor: Kelly, Johanna, Coen, Natasha, Barton, Lynn, O'Dwyer, Michael, Browne, Paul, Conneally, Eibhlin, Betts, David R., Nolan, Kathy, Dobson, Mark, Brady, Joanne, Brady, Christine, Barton, David, Foley, Patricia, Kelly, Rosemarie, de Leeuw, Nicole, Green, Andrew, Dash, DP, Church, J, Héon, E, Willoughby, CE, Anney, Richard, Clark, Graeme R, Muszynska, Dorota, Alexander, Sharon, Silvestri, Giuliana, Willoughby, Colin E, Simpson, David A, Casey, Jillian, Conroy, Judith, Regan, Regina, Shah, Naisha, Magelhaes, Tiago, Lynch, Sally Ann, Ennis, Sean, Dytko, Malgorzata, Byrne, Paula, Shah, N, Regan, R, Conroy, J, Magalhães, T, Casey, J, Anney, R, Green, A, Gallagher, L, Gill, M, Shields, DC, Vicente, A, Ennis, S, Hughes, Linda, Carroll, Nicola, Fiedler, Christian, Parle-McDermott, Anne, Donnelly, Deirdre E, Brown, Robin, Morrison, Patrick J, Vangjeli, C, Clarke, N, Quinn, U, Dicker, P, Tighe, O, Ho, C, O'Brien, E, Stanton, A, Malloy, MP, Pickard, BS, Goossens, D, Heyrman, L, Laenerts, AS, St Clair, D, Blackwood, DH, Muir, WJ, Del-Favero, J, Dabir, T, McKee, S, McCullough, S, Rauch, L, Smith, G, Magee, Alex, Rea, Gillian, Stewart, Fiona, Stewart, FJ, McCloskey, M, Wraith, JE, McArdle, Linda, Morris, Thomas, Betts, David R, Costigan, C, Foulds, N, Collins, A, Thuresson, AC, Anneren, Goran, Hedberg, Bengt-Ove, Fitzpatrick, DR, Sharkey, F.H, Lynch, SA, Perry, AS, Raheem, O, Kennedy, AM, Murphy, TM, Marignol, L, Sullivan, L, Loftus, B, Lynch, T, Lawler, M, McKee, Shane A, King, M, Quinn, Emma M, Furlong, Sarah, Gill, Michael, Corvin, Aiden P, Donohoe, Gary, Morris, Derek W, Bradley, Lisa, McCullough, Simon, McGrattan, Peter, McNerlan, Susan, Smith, Geoff, Humphreys, Mervyn, McConnell, Vivienne, Kissick, Niall, Gates, Amy S, Kenny, Elaine M, Cochrane, Lynne E, O'Dushlaine, Colm T, Kenny, EM, Gates, AS, Cochrane, LE, Corvin, AP, Morris, DW, McDevitt, Trudi, Higgins, Mary, Crowley, Anne, Cody, Nuala, Meany, Marie, de Baroid, Cliona, Adams, Maureen, Nolan, Carmel, Farrell, Michael, Berkeley, Eileen, Clarke, Roisin, Daly, Peter, Hegarty, KG, Daly, M, Chavrimootoo, S, Shanahan, F, Molloy, MG, Crawford, Hilda, Shepherd, Charles, McKee, Shane, Magee, Alex C, Sweeney, Michael, Baker, L, Graham, CA, Barton, DE, Breen, Claire J, O'hIci, Bronagh, Mullarkey, Marice, Carey, Aiveen, O'Shea, Rosie, Barton, David E., Malone, Fergal, Meaney, Karen, Barton, David E, Ryan, AW, Linehan, E, Turner, G, Gallagher, P, Irvine, A, Fitzgerald, O, Kirby, B, McManus, R, Kämäräinen, Outi, Patton, Simon, Elles, Rob, McLaughlin, Russell L, Cronin, Simon, Lynch, David S, Caulfield, Kim A, Bradley, Daniel G, Hardiman, Orla, Boilson, A, McMullin, MF, Catherwood, M, Staines, A, Ryan, J, Sweeney, MR

Publikováno v: The Ulster Medical Journal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::789908e5359ea44d4348727bc06faaac
http://europepmc.org/articles/PMC2939000

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Natural history of a fibrous cephalic plaque and sustained eight decade follow-up in an 80 year old with tuberous sclerosis complex type 2.

Autor: Kirk, Claire W., Donnelly, Deirdre E., Hardy, Rachel, Shepherd, Charles W., Morrison, Patrick J.

Publikováno v: Ulster Medical Journal; Jan2020, Vol. 89 Issue 1, p14-16, 3p