المؤلفون: Minten, Thomas, Gold, Nina B, Bick, Sarah, Adelson, Sophia, Gehlenborg, Nils, Amendola, Laura M, Boemer, François, Coffey, Alison J, Encina, Nicolas, Ferlini, Alessandra, Kirschner, Janbernd, Russell, Bianca E, Servais, Laurent, Sund, Kristen L, Taft, Ryan J, Tsipouras, Petros, Zouk, Hana, ICoNS Gene List Contributors, Bick, David, Green, Robert C, International Consortium on Newborn Sequencing (ICoNS

مصطلحات موضوعية: Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://syndication.highwire.org/content/doi/10.1101/2024.03.24.24304797

URL الوصول: https://orbi.uliege.be/handle/2268/325175

المؤلفون: Stevelink, Remi, Luykx, Jurjen J, Lin, Bochao D, Leu, Costin, Lal, Dennis, Smith, Alexander W, Schijven, Dick, Carpay, Johannes A, Rademaker, Koen, Baldez, Roiza A Rodrigues, Devinsky, Orrin, Braun, Kees PJ, Jansen, Floor E, Smit, Dirk JA, Koeleman, Bobby PC, Abou‐Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J, Bast, Thomas, Baum, Larry, Becker, Albert J, Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F, Boysen, Katja E, Bradfield, Jonathan P, Brody, Lawrence C, Buono, Russell J, Campbell, Ellen, Cascino, Gregory D, Catarino, Claudia B, Cavalleri, Gianpiero L, Cherny, Stacey S, Chinthapalli, Krishna, Coffey, Alison J, Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J, de Haan, Gerrit‐Jan, De Jonghe, Peter, de Kovel, Carolien GF, Delanty, Norman, Depondt, Chantal, Dlugos, Dennis J, Doherty, Colin P, Elger, Christian E, Eriksson, Johan G, Ferraro, Thomas N, Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A, Freytag, Saskia, Gaus, Verena, Geller, Eric B, Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B, Gui, Hongsheng, Guo, Youling, Haas, Kevin F, Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L, Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas‐Khoda, Jennifer, Johnson, Michael R, Kälviäinen, Reetta, Kantanen, Anne‐Mari, Kasperavičiūte, Dalia, Trenite, Dorothee Kasteleijn‐Nolst, Kirsch, Heidi E, Knowlton, Robert C, Krause, Roland, Krenn, Martin, Kunz, Wolfram S, Kuzniecky, Ruben, Kwan, Patrick, Lau, Yu‐Lung, Lehesjoki, Anna‐Elina, Lerche, Holger, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D, Lopes‐Cendes, Iscia, Lowenstein, Daniel H, Malovini, Alberto, Marson, Anthony G, Mayer, Thomas, McCormack, Mark, Mills, James L

المصدر: Epilepsia. 62(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Brain Disorders, Clinical Research, Human Genome, Neurodegenerative, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Algorithms, Beta Rhythm, Cohort Studies, Databases, Factual, Electroencephalography, Epilepsy, Generalized, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Mendelian Randomization Analysis, Risk Assessment, Theta Rhythm, beta power, EEG, generalized epilepsy, GGE, oscillations, PRS, International League Against Epilepsy Consortium on Complex Epilepsies, Epi25 Collaborative, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3d00d4x4
https://escholarship.org/content/qt3d00d4x4/qt3d00d4x4.pdf

المؤلفون: Sajan, Samin A., Gradisch, Ralph, Vogel, Florian D., Coffey, Alison J., Salyakina, Daria, Soler, Diana, Jayakar, Parul, Jayakar, Anuj, Bianconi, Simona E., Cooper, Annina H., Liu, Shuxi, William, Nancy, Benkel-Herrenbrück, Ira, Maiwald, Robert, Heller, Corina, Biskup, Saskia, Leiz, Steffen, Westphal, Dominik S., Wagner, Matias, Clarke, Amy, Stockner, Thomas, Ernst, Margot, Kesari, Akanchha, Krenn, Martin

المصدر: European Journal of Human Genetics ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-024-01600-3
https://www.nature.com/articles/s41431-024-01600-3.pdf
https://www.nature.com/articles/s41431-024-01600-3

المؤلفون: Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise M., Suchy, Sharon F., Begtrup, Amber, Langley, Katherine G., Hernan, Rebecca, Amendola, Laura M., Boyd, Brenna M., Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian L., Coffey, Alison J., Devaney, Joseph M., Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsay L., Gyimah, Awura, Hahn, Sihoun, Hofherr, Sean

المصدر: JAMA: Journal of the American Medical Association; 1/21/2025, Vol. 333 Issue 3, p232-240, 9p

مصطلحات موضوعية: NEWBORN screening, INFORMED consent (Medical law), MEDICAL screening, NUCLEOTIDE sequencing, RACE

المؤلفون: McCormick, Elizabeth M, Keller, Kierstin, Taylor, Julie P, Coffey, Alison J, Shen, Lishuang, Krotoski, Danuta, Harding, Brian, NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Pan, Alves, César Augusto Pinheiro Ferreira, Ardissone, Anna, Bai, Renkui, de Barcelos, Isabella Peixoto, Bertini, Enrico, Bluske, Krista, Christodoulou, John, Clause, Amanda R, Copeland, William C, Diaz, George A, Diodato, Daria, Dulik, Matthew C, Enns, Greg, Feigenbaum, Annette, Fratter, Carl, Ghezzi, Daniele, Goldstein, Amy, Gropman, Andrea, Haas, Richard, Karaa, Amel, Koenig, Mary Kay, Monteleone, Berrin, Parikh, Sumit, Duenas, Belen Perez, Rajkumar, Revathi, Saada, Ann, Saneto, Russell P, Sergeant, Kate, Shoffner, John, Smith, Conrad, Stanley, Christine, Thiffault, Isabelle, Thorburn, David, Walker, Melissa, Wallace, Douglas, Wong, Lee-Jun, Gai, Xiaowu, Falk, Marni J, Zolkipli-Cunningham, Zarazuela, Rahman, Shamima

المصدر: Annals of Neurology (2023) (In press).

مصطلحات موضوعية: NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10175738/1/Annals%20of%20Neurology%20-%202023%20-%20McCormick.pdf; https://discovery.ucl.ac.uk/id/eprint/10175738/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10175738/1/Annals%20of%20Neurology%20-%202023%20-%20McCormick.pdf
https://discovery.ucl.ac.uk/id/eprint/10175738/

المؤلفون: McCormick, Elizabeth M., Keller, Kierstin, Taylor, Julie P., Coffey, Alison J., Shen, Lishuang, Krotoski, Danuta, Harding, Brian, Gai, Xiaowu, Falk, Marni J., Zolkipli‐Cunningham, Zarazuela, Rahman, Shamima

المساهمون: National Institutes of Health

المصدر: Annals of Neurology ; volume 94, issue 4, page 696-712 ; ISSN 0364-5134 1531-8249

الاتاحة: http://dx.doi.org/10.1002/ana.26716
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26716

المؤلفون: Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J., Brown, Carolyn, Brown, Matthew P., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Golden-Grant, Katie, Kesari, Akanchha, Malhotra, Alka, Milewski, Becky, Sajan, Samin A., Schlachetzki, Zinayida, Schmidt, Sarah, Thomas, Brittany, Thorpe, Erin

المصدر: Cell Genomics ; volume 3, issue 2, page 100258 ; ISSN 2666-979X

الاتاحة: http://dx.doi.org/10.1016/j.xgen.2023.100258
https://api.elsevier.com/content/article/PII:S2666979X23000149?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666979X23000149?httpAccept=text/plain

المؤلفون: DiStefano, Marina T., Goehringer, Scott, Babb, Lawrence, Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Austin-Tse, Christina, Balzotti, Marie, Berg, Jonathan S., Birney, Ewan, Bocchini, Carol, Bruford, Elspeth A., Coffey, Alison J., Collins, Heather, Cunningham, Fiona, Daugherty, Louise C., Einhorn, Yaron, Firth, Helen V., Fitzpatrick, David R., Foulger, Rebecca E., Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew R., Leigh, Sarah E., Leong, Ivone U.S., Maddirevula, Sateesh, Martin, Christa L., McDonagh, Ellen M., Olry, Annie, Puzriakova, Arina, Radtke, Kelly, Ramos, Erin M., Rath, Ana, Riggs, Erin Rooney, Roberts, Angharad M., Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Tweedie, Susan, Ware, James S., Weller, Phillip, Williams, Eleanor, Wright, Caroline F., Yates, Thabo Michael, Rehm, Heidi L.

المساهمون: Wellcome Trust, British Heart Foundation, NHMRC, NHGRI

المصدر: Genetics in Medicine ; volume 24, issue 8, page 1732-1742 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.04.017
https://api.elsevier.com/content/article/PII:S1098360022007468?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022007468?httpAccept=text/plain

المؤلفون: Brown, Carolyn M., Amendola, Laura M., Chandrasekhar, Anjana, Hagelstrom, R. Tanner, Halter, Gillian, Kesari, Akanchha, Thorpe, Erin, Perry, Denise L., Taft, Ryan J., Coffey, Alison J.

المصدر: European Journal of Human Genetics ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-024-01575-1
https://www.nature.com/articles/s41431-024-01575-1.pdf
https://www.nature.com/articles/s41431-024-01575-1

المؤلفون: Mirza, Nasir, Stevelink, Remi, Taweel, Basel, Koeleman, Bobby P C, Marson, Anthony G, Abou-Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J, Bast, Thomas, Baum, Larry, Becker, Albert J, Berghuis, Felicitas Becker Bianca, Berkovic, Samuel F, Boysen, Katja E, Bradfield, Jonathan P, Brody, Lawrence C, Buono, Russell J, Campbell, Ellen, Cascino, Gregory D, Catarino, Claudia B, Cavalleri, Gianpiero L, Cherny, Stacey S, Chinthapalli, Krishna, Coffey, Alison J, Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J, de Haan, Gerrit-Jan, De Jonghe, Peter, de Kovel, Carolien G. F, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Dlugos, Dennis J, Doherty, Colin P, Elger, Christian E, Eriksson, Johan G, Ferraro, Thomas N, Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A, Freytag, Saskia, Gaus, Verena, Geller, Eric B, Gieger, Christian, Glauser, Tracy

المساهمون: Friends of Wilhemina KinderZiekenhuis MING

المصدر: Brain Communications ; volume 3, issue 4 ; ISSN 2632-1297

الاتاحة: https://doi.org/10.1093/braincomms/fcab287
https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcab287/41512900/fcab287.pdf
https://academic.oup.com/braincomms/article-pdf/3/4/fcab287/41936540/fcab287.pdf

المؤلفون: Sajan, Samin A., Gradisch, Ralph, Vogel, Florian D., Coffey, Alison J., Salyakina, Daria, Soler, Diana, Jayakar, Parul, Jayakar, Anuj, Bianconi, Simona E., Cooper, Annina H., Liu, Shuxi, William, Nancy, Benkel-Herrenbrück, Ira, Maiwald, Robert, Heller, Corina, Biskup, Saskia, Leiz, Steffen, Westphal, Dominik S., Wagner, Matias, Clarke, Amy, Stockner, Thomas, Ernst, Margot, Kesari, Akanchha, Krenn, Martin

المصدر: European Journal of Human Genetics: EJHG; August 2024, Vol. 32 Issue: 8 p912-919, 8p

المؤلفون: Romagnoni, Alberto, Jégou, Simon, Van Steen, Kristel, Wainrib, Gilles, Hugot, Jean-Pierre, Peyrin-Biroulet, Laurent, Chamaillard, Mathias, Colombel, Jean-Frederick, Cottone, Mario, D’Amato, Mauro, D’Incà, Renata, Halfvarson, Jonas, Henderson, Paul, Karban, Amir, Kennedy, Nicholas A., Khan, Mohammed Azam, Lémann, Marc, Levine, Arie, Massey, Dunecan, Milla, Monica, Ng, Sok Meng Evelyn, Oikonomou, Ioannis, Peeters, Harald, Proctor, Deborah D., Rahier, Jean-Francois, Rutgeerts, Paul, Seibold, Frank, Stronati, Laura, Taylor, Kirstin M., Törkvist, Leif, Ublick, Kullak, Van Limbergen, Johan, Van Gossum, Andre, Vatn, Morten H., Zhang, Hu, Zhang, Wei, Andrews, Jane M., Bampton, Peter A., Barclay, Murray, Florin, Timothy H., Gearry, Richard, Krishnaprasad, Krupa, Lawrance, Ian C., Mahy, Gillian, Montgomery, Grant W., Radford-Smith, Graham, Roberts, Rebecca L., Simms, Lisa A., Hanigan, Katherine, Croft, Anthony, Amininijad, Leila, Cleynen, Isabelle, Dewit, Olivier, Franchimont, Denis, Georges, Michel, Laukens, Debby, Theatre, Emilie, Van Gossum, André, Vermeire, Severine, Aumais, Guy, Baidoo, Leonard, Barrie, Arthur M., Beck, Karen, Bernard, Edmond-Jean, Binion, David G., Bitton, Alain, Brant, Steve R., Cho, Judy H., Cohen, Albert, Croitoru, Kenneth, Daly, Mark J., Datta, Lisa W., Deslandres, Colette, Duerr, Richard H., Dutridge, Debra, Ferguson, John, Fultz, Joann, Goyette, Philippe, Greenberg, Gordon R., Haritunians, Talin, Jobin, Gilles, Katz, Seymour, Lahaie, Raymond G., McGovern, Dermot P., Nelson, Linda, Ng, Sok Meng, Ning, Kaida, Paré, Pierre, Regueiro, Miguel D., Rioux, John D., Ruggiero, Elizabeth, Schumm, L. Philip, Schwartz, Marc, Scott, Regan, Sharma, Yashoda, Silverberg, Mark S., Spears, Denise, Steinhart, A. Hillary, Stempak, Joanne M., Swoger, Jason M., Tsagarelis, Constantina, Zhang, Clarence, Zhao, Hongyu, Aerts, Jan, Ahmad, Tariq, Arbury, Hazel, Attwood, Anthony, Auton, Adam, Ball, Stephen G., Balmforth, Anthony J., Barnes, Chris, Barrett, Jeffrey C., Barroso, Inês, Barton, Anne, Bennett, Amanda J., Bhaskar, Sanjeev, Blaszczyk, Katarzyna, Bowes, John, Brand, Oliver J., Braund, Peter S., Bredin, Francesca, Breen, Gerome, Brown, Morris J., Bruce, Ian N., Bull, Jaswinder, Burren, Oliver S., Burton, John, Byrnes, Jake, Caesar, Sian, Cardin, Niall, Clee, Chris M., Coffey, Alison J., MC Connell, John, Conrad, Donald F., Cooper, Jason D., Dominiczak, Anna F., Downes, Kate, Drummond, Hazel E., Dudakia, Darshna, Dunham, Andrew, Ebbs, Bernadette, Eccles, Diana, Edkins, Sarah, Edwards, Cathryn, Elliot, Anna, Emery, Paul, Evans, David M., Evans, Gareth, Eyre, Steve, Farmer, Anne, Ferrier, I. Nicol, Flynn, Edward, Forbes, Alistair, Forty, Liz, Franklyn, Jayne A., Frayling, Timothy M., Freathy, Rachel M., Giannoulatou, Eleni, Gibbs, Polly, Gilbert, Paul, Gordon-Smith, Katherine, Gray, Emma, Green, Elaine, Groves, Chris J., Grozeva, Detelina, Gwilliam, Rhian, Hall, Anita, Hammond, Naomi, Hardy, Matt, Harrison, Pile, Hassanali, Neelam, Hebaishi, Husam, Hines, Sarah, Hinks, Anne, Hitman, Graham A., Hocking, Lynne, Holmes, Chris, Howard, Eleanor, Howard, Philip, Howson, Joanna M. M., Hughes, Debbie, Hunt, Sarah, Isaacs, John D., Jain, Mahim, Jewell, Derek P., Johnson, Toby, Jolley, Jennifer D., Jones, Ian R., Jones, Lisa A., Kirov, George, Langford, Cordelia F., Lango-Allen, Hana, Lathrop, G. Mark, Lee, James, Lee, Kate L., Lees, Charlie, Lewis, Kevin, Lindgren, Cecilia M., Maisuria-Armer, Meeta, Maller, Julian, Mansfield, John, Marchini, Jonathan L., Martin, Paul, Massey, Dunecan CO, McArdle, Wendy L., McGuffin, Peter, McLay, Kirsten E., McVean, Gil, Mentzer, Alex, Mimmack, Michael L., Morgan, Ann E., Morris, Andrew P., Mowat, Craig, Munroe, Patricia B., Myers, Simon, Newman, William, Nimmo, Elaine R., O’Donovan, Michael C., Onipinla, Abiodun, Ovington, Nigel R., Owen, Michael J., Palin, Kimmo, Palotie, Aarno, Parnell, Kirstie, Pearson, Richard, Pernet, David, Perry, John RB, Phillips, Anne, Plagnol, Vincent, Prescott, Natalie J., Prokopenko, Inga, Quail, Michael A., Rafelt, Suzanne, Rayner, Nigel W., Reid, David M., Renwick, Anthony, Ring, Susan M., Robertson, Neil, Robson, Samuel, Russell, Ellie, Clair, David St, Sambrook, Jennifer G., Sanderson, Jeremy D., Sawcer, Stephen J., Schuilenburg, Helen, Scott, Carol E., Scott, Richard, Seal, Sheila, Shaw-Hawkins, Sue, Shields, Beverley M., Simmonds, Matthew J., Smyth, Debbie J., Somaskantharajah, Elilan, Spanova, Katarina, Steer, Sophia, Stephens, Jonathan, Stevens, Helen E., Stirrups, Kathy, Stone, Millicent A., Strachan, David P., Su, Zhan, Symmons, Deborah P. M., Thompson, John R., Thomson, Wendy, Tobin, Martin D., Travers, Mary E., Turnbull, Clare, Vukcevic, Damjan, Wain, Louise V., Walker, Mark, Walker, Neil M., Wallace, Chris, Warren-Perry, Margaret, Watkins, Nicholas A., Webster, John, Weedon, Michael N., Wilson, Anthony G., Woodburn, Matthew, Wordsworth, B. Paul, Yau, Chris, Young, Allan H., Zeggini, Eleftheria, Brown, Matthew A., Burton, Paul R., Caulfield, Mark J., Compston, Alastair, Farrall, Martin, Gough, Stephen C. L., Hall, Alistair S., Hattersley, Andrew T., Hill, Adrian V. S., Mathew, Christopher G., Pembrey, Marcus, Satsangi, Jack, Stratton, Michael R., Worthington, Jane, Hurles, Matthew E., Duncanson, Audrey, Ouwehand, Willem H., Parkes, Miles, Rahman, Nazneen, Todd, John A., Samani, Nilesh J., Kwiatkowski, Dominic P., McCarthy, Mark I., Craddock, Nick, Deloukas, Panos, Donnelly, Peter, Blackwell, Jenefer M., Bramon, Elvira, Casas, Juan P., Corvin, Aiden, Jankowski, Janusz, Markus, Hugh S., Palmer, Colin NA, Plomin, Robert, Rautanen, Anna, Trembath, Richard C., Viswanathan, Ananth C., Wood, Nicholas W., Spencer, Chris C. A., Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Pirinen, Matti, Strange, Amy, Blackburn, Hannah, Bumpstead, Suzannah J., Dronov, Serge, Gillman, Matthew, Jayakumar, Alagurevathi, McCann, Owen T., Liddle, Jennifer, Potter, Simon C., Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, Whittaker, Pamela

مصطلحات موضوعية: Article, /692/4020/1503/257/1402, /692/308/2056, /45, /45/43, /129

وصف الملف: text/xml; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/308061

الاتاحة: https://doi.org/10.17863/CAM.55156
https://www.repository.cam.ac.uk/handle/1810/308061

المؤلفون: Romagnoni, Alberto, Jégou, Simon, Van Steen, Kristel, Wainrib, Gilles, Hugot, Jean-Pierre, Peyrin-Biroulet, Laurent, Chamaillard, Mathias, Colombel, Jean-Frederick, Cottone, Mario, D’Amato, Mauro, D’Incà, Renata, Halfvarson, Jonas, Henderson, Paul, Karban, Amir, Kennedy, Nicholas A., Khan, Mohammed Azam, Lémann, Marc, Levine, Arie, Massey, Dunecan, Milla, Monica, Ng, Sok Meng Evelyn, Oikonomou, Ioannis, Peeters, Harald, Proctor, Deborah D., Rahier, Jean-Francois, Rutgeerts, Paul, Seibold, Frank, Stronati, Laura, Taylor, Kirstin M., Törkvist, Leif, Ublick, Kullak, Van Limbergen, Johan, Van Gossum, Andre, Vatn, Morten H., Zhang, Hu, Zhang, Wei, Andrews, Jane M., Bampton, Peter A., Barclay, Murray, Florin, Timothy H., Gearry, Richard, Krishnaprasad, Krupa, Lawrance, Ian C., Mahy, Gillian, Montgomery, Grant W., Radford-Smith, Graham, Roberts, Rebecca L., Simms, Lisa A., Hanigan, Katherine, Croft, Anthony, Amininijad, Leila, Cleynen, Isabelle, Dewit, Olivier, Franchimont, Denis, Georges, Michel, Laukens, Debby, Theatre, Emilie, Van Gossum, André, Vermeire, Severine, Aumais, Guy, Baidoo, Leonard, Barrie, Arthur M., Beck, Karen, Bernard, Edmond-Jean, Binion, David G., Bitton, Alain, Brant, Steve R., Cho, Judy H., Cohen, Albert, Croitoru, Kenneth, Daly, Mark J., Datta, Lisa W., Deslandres, Colette, Duerr, Richard H., Dutridge, Debra, Ferguson, John, Fultz, Joann, Goyette, Philippe, Greenberg, Gordon R., Haritunians, Talin, Jobin, Gilles, Katz, Seymour, Lahaie, Raymond G., McGovern, Dermot P., Nelson, Linda, Ng, Sok Meng, Ning, Kaida, Paré, Pierre, Regueiro, Miguel D., Rioux, John D., Ruggiero, Elizabeth, Schumm, L. Philip, Schwartz, Marc, Scott, Regan, Sharma, Yashoda, Silverberg, Mark S., Spears, Denise, Steinhart, A. Hillary, Stempak, Joanne M., Swoger, Jason M., Tsagarelis, Constantina, Zhang, Clarence, Zhao, Hongyu, Aerts, Jan, Ahmad, Tariq, Arbury, Hazel, Attwood, Anthony, Auton, Adam, Ball, Stephen G., Balmforth, Anthony J., Barnes, Chris, Barrett, Jeffrey C., Barroso, Inês, Barton, Anne, Bennett, Amanda J., Bhaskar, Sanjeev, Blaszczyk, Katarzyna, Bowes, John, Brand, Oliver J., Braund, Peter S., Bredin, Francesca, Breen, Gerome, Brown, Morris J., Bruce, Ian N., Bull, Jaswinder, Burren, Oliver S., Burton, John, Byrnes, Jake, Caesar, Sian, Cardin, Niall, Clee, Chris M., Coffey, Alison J., Connell, John M.C., Conrad, Donald F., Cooper, Jason D., Dominiczak, Anna F., Downes, Kate, Drummond, Hazel E., Dudakia, Darshna, Dunham, Andrew, Ebbs, Bernadette, Eccles, Diana, Edkins, Sarah, Edwards, Cathryn, Elliot, Anna, Emery, Paul, Evans, David M., Evans, Gareth, Eyre, Steve, Farmer, Anne, Ferrier, I. Nicol, Flynn, Edward, Forbes, Alistair, Forty, Liz, Franklyn, Jayne A., Frayling, Timothy M., Freathy, Rachel M., Giannoulatou, Eleni, Gibbs, Polly, Gilbert, Paul, Gordon-Smith, Katherine, Gray, Emma, Green, Elaine, Groves, Chris J., Grozeva, Detelina, Gwilliam, Rhian, Hall, Anita, Hammond, Naomi, Hardy, Matt, Harrison, Pile, Hassanali, Neelam, Hebaishi, Husam, Hines, Sarah, Hinks, Anne, Hitman, Graham A., Hocking, Lynne, Holmes, Chris, Howard, Eleanor, Howard, Philip, Howson, Joanna M. M., Hughes, Debbie, Hunt, Sarah, Isaacs, John D., Jain, Mahim, Jewell, Derek P., Johnson, Toby, Jolley, Jennifer D., Jones, Ian R., Jones, Lisa A., Kirov, George, Langford, Cordelia F., Lango-Allen, Hana, Lathrop, G. Mark, Lee, James, Lee, Kate L., Lees, Charlie, Lewis, Kevin, Lindgren, Cecilia M., Maisuria-Armer, Meeta, Maller, Julian, Mansfield, John, Marchini, Jonathan L., Martin, Paul, Massey, Dunecan CO, McArdle, Wendy L., McGuffin, Peter, McLay, Kirsten E., McVean, Gil, Mentzer, Alex, Mimmack, Michael L., Morgan, Ann E., Morris, Andrew P., Mowat, Craig, Munroe, Patricia B., Myers, Simon, Newman, William, Nimmo, Elaine R., O’Donovan, Michael C., Onipinla, Abiodun, Ovington, Nigel R., Owen, Michael J., Palin, Kimmo, Palotie, Aarno, Parnell, Kirstie, Pearson, Richard, Pernet, David, Perry, John RB, Phillips, Anne, Plagnol, Vincent, Prescott, Natalie J., Prokopenko, Inga, Quail, Michael A., Rafelt, Suzanne, Rayner, Nigel W., Reid, David M., Renwick, Anthony, Ring, Susan M., Robertson, Neil, Robson, Samuel, Russell, Ellie, Clair, David St, Sambrook, Jennifer G., Sanderson, Jeremy D., Sawcer, Stephen J., Schuilenburg, Helen, Scott, Carol E., Scott, Richard, Seal, Sheila, Shaw-Hawkins, Sue, Shields, Beverley M., Simmonds, Matthew J., Smyth, Debbie J., Somaskantharajah, Elilan, Spanova, Katarina, Steer, Sophia, Stephens, Jonathan, Stevens, Helen E., Stirrups, Kathy, Stone, Millicent A., Strachan, David P., Su, Zhan, Symmons, Deborah P. M., Thompson, John R., Thomson, Wendy, Tobin, Martin D., Travers, Mary E., Turnbull, Clare, Vukcevic, Damjan, Wain, Louise V., Walker, Mark, Walker, Neil M., Wallace, Chris, Warren-Perry, Margaret, Watkins, Nicholas A., Webster, John, Weedon, Michael N., Wilson, Anthony G., Woodburn, Matthew, Wordsworth, B. Paul, Yau, Chris, Young, Allan H., Zeggini, Eleftheria, Brown, Matthew A., Burton, Paul R., Caulfield, Mark J., Compston, Alastair, Farrall, Martin, Gough, Stephen C. L., Hall, Alistair S., Hattersley, Andrew T., Hill, Adrian V. S., Mathew, Christopher G., Pembrey, Marcus, Satsangi, Jack, Stratton, Michael R., Worthington, Jane, Hurles, Matthew E., Duncanson, Audrey, Ouwehand, Willem H., Parkes, Miles, Rahman, Nazneen, Todd, John A., Samani, Nilesh J., Kwiatkowski, Dominic P., McCarthy, Mark I., Craddock, Nick, Deloukas, Panos, Donnelly, Peter, Blackwell, Jenefer M., Bramon, Elvira, Casas, Juan P., Corvin, Aiden, Jankowski, Janusz, Markus, Hugh S., Palmer, Colin NA, Plomin, Robert, Rautanen, Anna, Trembath, Richard C., Viswanathan, Ananth C., Wood, Nicholas W., Spencer, Chris C. A., Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Pirinen, Matti, Strange, Amy, Blackburn, Hannah, Bumpstead, Suzannah J., Dronov, Serge, Gillman, Matthew, Jayakumar, Alagurevathi, McCann, Owen T., Liddle, Jennifer, Potter, Simon C., Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, Whittaker, Pamela

وصف الملف: text

Relation: http://eprints.gla.ac.uk/220807/1/220807.pdf; Romagnoni, A. et al. (2019) Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data. Scientific Reports , 9, 10351. (doi:10.1038/s41598-019-46649-z ) (PMID:31316157) (PMCID:PMC6637191)

الاتاحة: http://eprints.gla.ac.uk/220807/
http://eprints.gla.ac.uk/220807/1/220807.pdf

المؤلفون: Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Bennett, Maren, Bluske, Krista, Brown, Carolyn M., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Clause, Amanda R., Coffey, Alison J., Cremona, Maria Laura, Gainullin, Vlad, Hagelstrom, R. Tanner, Malhotra, Alka, Rajan, Maya, Rajkumar, Revathi, Schmidt, Sarah, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.

المصدر: npj Genomic Medicine ; volume 4, issue 1 ; ISSN 2056-7944

الاتاحة: http://dx.doi.org/10.1038/s41525-018-0076-1
https://www.nature.com/articles/s41525-018-0076-1.pdf
https://www.nature.com/articles/s41525-018-0076-1

المؤلفون: Gross, Andrew M., Ajay, Subramanian S., Rajan, Vani, Brown, Carolyn, Bluske, Krista, Burns, Nicole J., Chawla, Aditi, Coffey, Alison J., Malhotra, Alka, Scocchia, Alicia, Thorpe, Erin, Dzidic, Natasa, Hovanes, Karine, Sahoo, Trilochan, Dolzhenko, Egor, Lajoie, Bryan, Khouzam, Amirah, Chowdhury, Shimul, Belmont, John, Roller, Eric, Ivakhno, Sergii, Tanner, Stephen, McEachern, Julia, Hambuch, Tina, Eberle, Michael, Hagelstrom, R. Tanner, Bentley, David R., Perry, Denise L., Taft, Ryan J.

المصدر: Genetics in Medicine ; volume 21, issue 5, page 1121-1130 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0295-y
http://www.nature.com/articles/s41436-018-0295-y.pdf
http://www.nature.com/articles/s41436-018-0295-y
https://api.elsevier.com/content/article/PII:S1098360021014714?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021014714?httpAccept=text/plain

المؤلفون: Abou-Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J., Bast, Thomas, Baum, Larry, Becker, Albert J., Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Buono, Russell J., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cavalleri, Gianpiero L., Cherny, Stacey S., Chinthapalli, Krishna, Coffey, Alison J., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., de Haan, Gerrit-Jan, De Jonghe, Peter, de Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Dlugos, Dennis J., Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A., Freytag, Saskia, Gaus, Verena, Geller, Eric B., Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gui, Hongsheng, Guo, Youling, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andres, Jamnadas-Khoda, Jennifer, Johnson, Michael R., Kalviainen, Reetta, Kantanen, Anne-Mari, Kasperaviciute, Dalia, Trenite, Dorothee Kasteleijn-Nolst, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Kwan, Patrick, Lal, Dennis, Lau, Yu-Lung, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes-Cendes, Iscia, Lowenstein, Daniel H., Malovini, Alberto, Marson, Anthony G., Mayer, Thomas, McCormack, Mark, Mills, James L., Mirza, Nasir, Moerzinger, Martina, Moller, Rikke S., Molloy, Anne M., Muhle, Hiltrud, Newton, Mark, Ng, Ping-Wing, Noethen, Markus M., Nuernberg, Peter, O'Brien, Terence J., Oliver, Karen L., Palotie, Aarno, Pangilinan, Faith, Peter, Sarah, Petrovski, Slave, Poduri, Annapurna, Privitera, Michael, Radtke, Rodney, Rau, Sarah, Reif, Philipp S., Reinthaler, Eva M., Rosenow, Felix, Sander, Josemir W., Sander, Thomas, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Sham, Pak C., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Slattery, Lisa, Smith, Alexander, Smith, David F., Smith, Michael C., Smith, Philip E., Sonsma, Anja C. M., Speed, Doug, Sperling, Michael R., Steinhoff, Bernhard J., Stephani, Ulrich, Stevelink, Remi, Strauch, Konstantin, Striano, Pasquale, Stroink, Hans, Surges, Rainer, Tan, K. Meng, Thio, Liu Lin, Thomas, G. Neil, Todaro, Marian, Tozzi, Rossana, Vari, Maria S., Vining, Eileen P. G., Visscher, Frank, von Spiczak, Sarah, Walley, Nicole M., Weber, Yvonne G., Wei, Zhi, Weisenberg, Judith, Whelan, Christopher D., Widdess-Walsh, Peter, Wolff, Markus, Wolking, Stefan, Yang, Wanling, Zara, Federico, Zimprich, Fritz

المساهمون: Int League Against Epilepsy Conso

المصدر: 2041-1723 ; Nature communications

مصطلحات موضوعية: Engineering sciences. Technology

وصف الملف: pdf

Relation: info:eu-repo/semantics/altIdentifier/isi/000452633700009

الاتاحة: https://hdl.handle.net/10067/1562360151162165141
https://repository.uantwerpen.be/docman/irua/a8a36d/156236.pdf

المؤلفون: Johnson, Michael R, Behmoaras, Jacques, Bottolo, Leonardo, Krishnan, Michelle L., Pernhorst, Katharina, Santoscoy, Paola L. Meza, Rossetti, Tiziana, Speed, Doug, Srivastava, Prashant K., Chadeau Hyam, Marc, Hajji, Nabil, Dabrowska, Aleksandra, Rotival, Maxime, Razzaghi, Banafsheh, Kovac, Stjepana, Wanisch, Klaus, Grillo, Federico W., Slaviero, Anna, Langley, Sarah R., Shkura, Kirill, RONCON, Paolo, De, Tisham, Mattheisen, Manuel, Niehusmann, Pitt, O'Brien, Terence J., Petrovski, Slave, Von Lehe, Marec, Hoffmann, Per, Eriksson, Johan, Coffey, Alison J., Cichon, Sven, Walker, Matthew, SIMONATO, Michele, Danis, Bénédicte, Mazzuferi, Manuela, Foerch, Patrik, Schoch, Susanne, De Paola, Vincenzo, Kaminski, Rafal M., Cunliffe, Vincent T., Becker, Albert J., Petretto, Enrico

المساهمون: Johnson, Michael R, Behmoaras, Jacque, Bottolo, Leonardo, Krishnan, Michelle L., Pernhorst, Katharina, Santoscoy, Paola L. Meza, Rossetti, Tiziana, Speed, Doug, Srivastava, Prashant K., Chadeau Hyam, Marc, Hajji, Nabil, Dabrowska, Aleksandra, Rotival, Maxime, Razzaghi, Banafsheh, Kovac, Stjepana, Wanisch, Klau, Grillo, Federico W., Slaviero, Anna, Langley, Sarah R., Shkura, Kirill, Roncon, Paolo, De, Tisham, Mattheisen, Manuel, Niehusmann, Pitt, O'Brien, Terence J., Petrovski, Slave, Von Lehe, Marec, Hoffmann, Per, Eriksson, Johan, Coffey, Alison J., Cichon, Sven, Walker, Matthew, Simonato, Michele, Danis, Bénédicte, Mazzuferi, Manuela, Foerch, Patrik, Schoch, Susanne, De Paola, Vincenzo, Kaminski, Rafal M., Cunliffe, Vincent T., Becker, Albert J., Petretto, Enrico

مصطلحات موضوعية: Adolescent, Adult, Animal, Child, Preschool, Epilepsy, Temporal Lobe, Female, Heat-Shock Protein, Hippocampu, Human, Infant, Inflammation, Macrophage, Male, Mice, Microglia, Middle Aged, Motor Activity, Neuron, Pentylenetetrazole, Seizure, Young Adult, Zebrafish, Gene Regulatory Networks

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25615886; info:eu-repo/semantics/altIdentifier/wos/WOS:000348829800009; volume:6; firstpage:6031-1; lastpage:6031-11; numberofpages:11; journal:NATURE COMMUNICATIONS; info:eu-repo/grantAgreement/EC/FP7/602102; http://hdl.handle.net/11392/2338288; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84923076529; https://www.nature.com/articles/ncomms7031

الاتاحة: http://hdl.handle.net/11392/2338288
https://doi.org/10.1038/ncomms7031
https://www.nature.com/articles/ncomms7031

المؤلفون: Johnson, Michael R., Behmoaras, Jacques, Bottolo, Leonardo, Krishnan, Michelle L., Pernhorst, Katharina, Santoscoy, Paola L. Meza, Rossetti, Tiziana, Speed, Doug, Srivastava, Prashant K., Chadeau-Hyam, Marc, Hajji, Nabil, Dabrowska, Aleksandra, Rotival, Maxime, Razzaghi, Banafsheh, Kovac, Stjepana, Wanisch, Klaus, Grillo, Federico W., Slaviero, Anna, Langley, Sarah R., Shkura, Kirill, Roncon, Paolo, De, Tisham, Mattheisen, Manuel, Niehusmann, Pitt, O'Brien, Terence J., Petrovski, Slave, von Lehe, Marec, Hoffmann, Per, Eriksson, Johan, Coffey, Alison J., Cichon, Sven, Walker, Matthew, Simonato, Michele, Danis, Benedicte, Mazzuferi, Manuela, Foerch, Patrik, Schoch, Susanne, De Paola, Vincenzo, Kaminski, Rafal M., Cunliffe, Vincent T., Becker, Albert J., Petretto, Enrico

المساهمون: Department of General Practice and Primary Health Care

مصطلحات موضوعية: GENOME-WIDE ASSOCIATION, NMDA RECEPTOR-ACTIVITY, SEIZURE SUSCEPTIBILITY, UP-REGULATION, EXPRESSION, BRAIN, INFLAMMATION, EXCITABILITY, EPILEPSIES, DISEASE, Biomedicine

وصف الملف: application/pdf

Relation: We acknowledge funding from Imperial NIHR Biomedical Research Centre/Imperial Innovations (E.P., J.B., M.R.J.), National Genome Research Network (NGFNplus: EMINet, grant 01GS08122; S.S., A.J.B.), DFG (SFB1089; A.J.B.), DFG (KFO177/SFB-1089; A.J.B., S.S.), BMBF (01GQ0806, S.S.), GIF (A.J.B.), ESF EuroEpinomics (A.J.B.), Else-Kroner Fresenius Foundation (A.J.B.), Wellcome Trust (J.B.), Imperial College Junior research fellowship (J.B.) and BONFOR (S.S., A.J.B.), UCB Pharma (M.R.J., E.P., R.K.), Medical Research Council UK (E.P.), CONACYT, Mexico (P.L.M.S., V.T.C.), Imperial College/Imperial College Healthcare, who received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres (BRC) funding scheme (M.R.J., E.P.). DNA collection for GWAS was part funded by the Wellcome Trust (M.R.J., Grant Reference WT066056). The research leading to these results has received funding from the European Union's Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 602102 (EPITARGET; M.R.J., S.S., M.S., A.J.B., E.P.). The research was supported by the National Institute for Health Research (NIHR) Imperial Biomedical Research Centre (M.R.J., E.P.). The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health. We thank Mario Falchi and Philippe Froguel for providing critical comments on the first version of the manuscript.; Johnson , M R , Behmoaras , J , Bottolo , L , Krishnan , M L , Pernhorst , K , Santoscoy , P L M , Rossetti , T , Speed , D , Srivastava , P K , Chadeau-Hyam , M , Hajji , N , Dabrowska , A , Rotival , M , Razzaghi , B , Kovac , S , Wanisch , K , Grillo , F W , Slaviero , A , Langley , S R , Shkura , K , Roncon , P , De , T , Mattheisen , M , Niehusmann , P , O'Brien , T J , Petrovski , S , von Lehe , M , Hoffmann , P , Eriksson , J , Coffey , A J , Cichon , S , Walker , M , Simonato , M , Danis , B , Mazzuferi , M , Foerch , P , Schoch , S , De Paola , V , Kaminski , R M , Cunliffe , V T , Becker , A J & Petretto , E 2015 , ' Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus ' , Nature Communications , vol. 6 , 6031 . https://doi.org/10.1038/ncomms7031; http://hdl.handle.net/10138/165252; f23fa905-f9ee-4556-aafb-49fb7f46c739; 84923076529; 000348829800009

الاتاحة: http://hdl.handle.net/10138/165252

المؤلفون: Day-Williams, Aaron G., McLay, Kirsten, Drury, Eleanor, Edkins, Sarah, Coffey, Alison J., Palotie, Aarno, Zeggini, Eleftheria

المساهمون: Institute for Molecular Medicine Finland, Department of Medical and Clinical Genetics, Genomics of Neurological and Neuropsychiatric Disorders

مصطلحات موضوعية: HIGH-THROUGHPUT, RARE VARIANTS, MISSING HERITABILITY, HUMAN GENOME, DNA, SELECTION, HYBRIDIZATION, STRATEGIES, Biomedicine

وصف الملف: application/pdf

Relation: Day-Williams , A G , McLay , K , Drury , E , Edkins , S , Coffey , A J , Palotie , A & Zeggini , E 2011 , ' An Evaluation of Different Target Enrichment Methods in Pooled Sequencing Designs for Complex Disease Association Studies ' , PLoS One , vol. 6 , no. 11 , pp. Article Number: e26279 . https://doi.org/10.1371/journal.pone.0026279; ORCID: /0000-0002-2527-5874/work/97266525; http://hdl.handle.net/10138/165735; 23f7ac6a-3d96-4f21-9177-6d95d705121f; 84858188091; 000297150900008

الاتاحة: http://hdl.handle.net/10138/165735

المؤلفون: Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J., Steele-Stallard, Heather B., Moore, Anthony T., Steel, Karen P., Luxon, Linda M., Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R.

المصدر: Lenassi , E , Vincent , A , Li , Z , Saihan , Z , Coffey , A J , Steele-Stallard , H B , Moore , A T , Steel , K P , Luxon , L M , Héon , E , Bitner-Glindzicz , M & Webster , A R 2015 , ' A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants ' , European Journal of Human Genetics , vol. 23 , no. 10 , pp. 1318-1327 . https://doi.org/10.1038/ejhg.2014.283

وصف الملف: application/pdf

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/4529ce43-1424-4361-a02e-5fa2e523c7a5

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/4529ce43-1424-4361-a02e-5fa2e523c7a5
https://doi.org/10.1038/ejhg.2014.283
https://kclpure.kcl.ac.uk/ws/files/147548392/A_detailed_clinical_and_molecular_survey_STEEL_Publishedonline4February2015_GOLD_VoR_CC_BY_.pdf
http://www.scopus.com/inward/record.url?scp=84944174453&partnerID=8YFLogxK