Not logged in Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure Nolan, Joshua; Buchanan, James; Taylor, John; Almeida, Joao; Bedenham, Tina; Blair, Edward; Broadgate, Suzanne; Butler, Samantha; Cazeaux, Angela; Craft, Judith; Cranston, Treena; Crawford, Gillian; Forrest, Jamie; Gabriel, Jessica; George, Elaine; Gillen, Donna; Haeger, Ash; Ward, Jillian Hastings; Hawkes, Lara; Hodgkiss, Claire; Hoffman, Jonathan; Jones, Alan; Karpe, Fredrik; Kasperaviciute, Dalia; Kovacs, Erika; Leigh, Sarah; Limb, Elizabeth; Lloyd-Jani, Anjali; Lopez, Javier; Lucassen, Anneke; McFarlane, Carlos; O'Reurke, Anthony W.; Pond, Emily; Sherman, Catherine; Stewart, Helen; Thomas, Ellen; Thomas, Simon; Thomas, Tessy; Thomson, Kate; Wakelin, Hannah; Walker, Susan; Watson, Melanie; Williams, Eleanor; Ormondroyd, Elizabeth Share Save
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources 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. Share Save
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy Spielmann, Nadine; Miller, Gregor; Oprea, Tudor I.; Hsu, Chih-Wei; Fobo, Gisela; Frishman, Goar; Montrone, Corinna; Haseli Mashhadi, Hamed; Mason, Jeremy; Munoz Fuentes, Violeta; Leuchtenberger, Stefanie; Ruepp, Andreas; Wagner, Matias; Westphal, Dominik S.; Wolf, Cordula; Goerlach, Agnes; Sanz-Moreno, Adrian; Cho, Yi-Li; Teperino, Raffaele; Brandmaier, Stefan; Sharma, Sapna; Galter, Isabella Rikarda; Oestereicher, Manuela A.; Zapf, Lilly; Mayer-Kuckuk, Philipp; Rozman, Jan; Teboul, Lydia; Bunton-Stasyshyn, Rosie K. A.; Cater, Heather; Stewart, Michelle; Christou, Skevoulla; Westerberg, Henrik; Willett, Amelia M.; Wotton, Janine M.; Roper, Willson B.; Christiansen, Audrey E.; Ward, Christopher S.; Heaney, Jason D.; Reynolds, Corey L.; Prochazka, Jan; Bower, Lynette; Clary, David; Selloum, Mohammed; Bou About, Ghina; Wendling, Olivia; Jacobs, Hugues; Leblanc, Sophie; Meziane, Hamid; Sorg, Tania; Audain, Enrique; Gilly, Arthur; Rayner, Nigel W.; Aguilar-Pimentel, Juan A.; Becker, Lore; Garrett, Lillian; Hoelter, Sabine M.; Amarie, Oana V.; Calzada-Wack, Julia; Klein-Rodewald, Tanja; da Silva-Buttkus, Patricia; Lengger, Christoph; Stoeger, Claudia; Gerlini, Raffaele; Rathkolb, Birgit; Mayr, Daniela; Seavitt, John; Gaspero, Angelina; Green, Jennie R.; Garza, Arturo; Bohat, Ritu; Wong, Leeyean; Mcelwee, Melissa L.; Kalaga, Sowmya; Rasmussen, Tara L.; Lorenzo, Isabel; Lanza, Denise G.; Samaco, Rodney C.; Veeraragaven, Surabi; Gallegos, Juan J.; Kasparek, Petr; Petrezselyova, Silvia; King, Ruairidh; Johnson, Sara; Cleak, James; Szkoe-Kovacs, Zsombor; Codner, Gemma; Mackenzie, Matthew; Caulder, Adam; Kenyon, Janet; Gardiner, Wendy; Phelps, Hayley; Hancock, Rhys; Norris, Claire; Moore, Michayla A.; Seluke, Audrie M.; Urban, Rachel; Kane, Coleen; Goodwin, Leslie O.; Peterson, Kevin A.; Mckay, Matthew; Cook, Jenn J.; Lowy, Jacob P.; Mcfarland, Michael; Wood, Joshua A.; Willis, Brandon J.; Tolentino, Heather; Tolentino, Todd; Schuchbauer, Michael; Salazar, Jason; Johnson, Jennifer; Munson, Rebecca; Ayadi, Abdel; Pavlovic, Guillaume; Birling, Marie-Christine; Jacquot, Sylvie; Ali-Hadji, Dalila; Charles, Philippe; Andre, Philippe; Champy, Marie-France; Riet, Fabrice; Vukobradovic, Igor; Berberovic, Zorana; Qu, Dawei; Guo, Ruolin; D'Souza, Abigail; Huang, Ziyue; Camilleri, Susan; Ganguly, Milan; Adissu, Hibret; Eskandarian, Mohammed; Shang, Xueyuan; Duffin, Kyle; Xu, Catherine; Roberton, Kyle; Laurin, Valerie; Lan, Qing; Sleep, Gillian; Creighton, Amie; Lintott, Lauri; Gertsenstein, Marina; Pereira, Monica; Tondat, Sandra; Patel, Amit; Cruz, Maribelle; Bezginov, Alex; Miller, David; Hy, Wang; Yoshiki, Atsushi; Tanaka, Nobuhiko; Tamura, Masaru; Liu, Zhiwei; Ermakova, Olga; Ferrara, Anna; Fruscoloni, Paolo; Seisenberger, Claudia; Buerger, Antje; Giesert, Florian; Ambrose, J. C.; Gam, Arumu P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O'Donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor-Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Hitz, Marc-Phillip; Zeggini, Eleftheria; Wolf, Eckhard; Sedlacek, Radislav; Murray, Steven A.; Svenson, Karen L.; Braun, Robert E.; White, Jaqueline K.; Kelsey, Lois; Gao, Xiang; Shiroishi, Toshihiko; Xu, Ying; Seong, Je Kyung; Mammano, Fabio; Tocchini-Valentini, Glauco P.; Beaudet, Arthur L.; Meehan, Terrence F.; Parkinson, Helen; Smedley, Damian; Mallon, Ann-Marie; Wells, Sara E.; Grallert, Harald; Wurst, Wolfgang; Marschall, Susan; Fuchs, Helmut; Brown, Steve D. M.; Flenniken, Ann M.; Nutter, Lauryl M. J.; Mckerlie, Colin; Herault, Yann; Lloyd, K. C. Kent; Dickinson, Mary E.; Gailus-Durner, Valerie; Hrabe de Angelis, Martin Share Save
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report Smedley, Damian; Smith, Katherine R.; Martin, Antonio; Thomas, Ellen A.; McDonagh, Ellen M.; Cipriani, Valentina; Ellingford, Jamie M.; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J.; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R.; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmstrom, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R. Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G.; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Graf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G.; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L. T.; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E.; Daugherty, Louise C.; Niblock, Olivia; Leong, Ivone U. S.; Wright, Caroline F.; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A.; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R.; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C.; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J.; Humphray, Sean J.; Robinson, Peter N.; Haendel, Melissa; Simpson, Michael A.; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B.; O'Keefe, Raymond T.; Michaelides, Michel; Moore, Anthony T.; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C.; Straub, Volker; Gorman, Grainne S.; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M.; Yu-Wai-Man, Patrick; Turnbull, Doug M.; McFarland, Robert; Taylor, Robert W.; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R.; Polke, James; Wood, Nicholas W.; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Roy, Noemi B. A.; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O.; Seaby, Eleanor G.; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I. Karen; Mumford, Andrew D.; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R.; Brennan, Paul; Burn, John; Chinnery, Patrick F.; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A.; Taylor, Jenny C.; Webster, Andrew R.; Wilkie, Andrew O. M.; Ouwehand, Willem H.; Raymond, F. Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H.; Fowler, Tom; Rendon, Augusto; Caulfield, Mark Share Save
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution Stark, Zornitza; Foulger, Rebecca E.; Williams, Eleanor; Thompson, Bryony A.; Patel, Chirag; Lunke, Sebastian; Snow, Catherine; Leong, Ivone U. S.; Puzriakova, Arina; Daugherty, Louise C.; Leigh, Sarah; Boustred, Christopher; Niblock, Olivia; Rueda-Martin, Antonio; Gerasimenko, Oleg; Savage, Kevin; Bellamy, William; Lin, Victor San Kho; Valls, Roman; Gordon, Lavinia; Brittain, Helen K.; Thomas, Ellen R. A.; Tavares, Ana Lisa Taylor; McEntagart, Meriel; White, Susan M.; Tan, Tiong Y.; Yeung, Alison; Downie, Lilian; Macciocca, Ivan; Savva, Elena; Lee, Crystle; Roesley, Ain; De Fazio, Paul; Deller, Jane; Deans, Zandra C.; Hill, Sue L.; Caulfield, Mark J.; North, Kathryn N.; Scott, Richard H.; Rendon, Augusto; Hofmann, Oliver; McDonagh, Ellen M. Share Save
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels Martin, Antonio Rueda; Williams, Eleanor; Foulger, Rebecca E.; Leigh, Sarah; Daugherty, Louise C.; Niblock, Olivia; Leong, Ivone U. S.; Smith, Katherine R.; Gerasimenko, Oleg; Haraldsdottir, Eik; Thomas, Ellen; Scott, Richard H.; Baple, Emma; Tucci, Arianna; Brittain, Helen; de Burca, Anna; Ibanez, Kristina; Kasperaviciute, Dalia; Smedley, Damian; Caulfield, Mark; Rendon, Augusto; McDonagh, Ellen M. Share Save
Image Data Resource: a bioimage data integration and publication platform (vol 14, pg 775, 2017) Williams, Eleanor; Moore, Josh; Li, Simon W.; Rustici, Gabriella; Tarkowska, Aleksandra; Chessel, Anatole; Leo, Simone; Antal, Balint; Ferguson, Richard K.; Sarkans, Ugis; Brazma, Alvis; Salas, Rafael E. Carazo; Swedlow, Jason R. Share Save
Image Data Resource: a bioimage data integration and publication platform Williams, Eleanor; Moore, Josh; Li, Simon W.; Rustici, Gabriella; Tarkowska, Aleksandra; Chessel, Anatole; Leo, Simone; Antal, Balint; Ferguson, Richard K.; Sarkans, Ugis; Brazma, Alvis; Salas, Rafael E. Carazo; Swedlow, Jason R. Share Save
Metadata management for high content screening in OMERO Li, Simon; Besson, Sebastien; Blackburn, Colin; Carroll, Mark; Ferguson, Richard K.; Flynn, Helen; Gillen, Kenneth; Leigh, Roger; Lindner, Dominik; Linkert, Melissa; Moore, William J.; Ramalingam, Balaji; Rozbicki, Emil; Rustici, Gabriella; Tarkowska, Aleksandra; Walczysko, Petr; Williams, Eleanor; Allan, Chris; Burel, Jean-Marie; Moore, Josh; Swedlow, Jason R. Share Save
Expression Atlas update-an integrated database of gene and protein expression in humans, animals and plants Petryszak, Robert; Keays, Maria; Tang, Y. Amy; Fonseca, Nuno A.; Barrera, Elisabet; Burdett, Tony; Fuellgrabe, Anja; Fuentes, Alfonso Munoz-Pomer; Jupp, Simon; Koskinen, Satu; Mannion, Oliver; Huerta, Laura; Megy, Karine; Snow, Catherine; Williams, Eleanor; Barzine, Mitra; Hastings, Emma; Weisser, Hendrik; Wright, James; Jaiswal, Pankaj; Huber, Wolfgang; Choudhary, Jyoti; Parkinson, Helen E.; Brazma, Alvis Share Save
ArrayExpress update-simplifying data submissions Kolesnikov, Nikolay; Hastings, Emma; Keays, Maria; Melnichuk, Olga; Tang, Y. Amy; Williams, Eleanor; Dylag, Miroslaw; Kurbatova, Natalja; Brandizi, Marco; Burdett, Tony; Megy, Karyn; Pilicheva, Ekaterina; Rustici, Gabriella; Tikhonov, Andrew; Parkinson, Helen; Petryszak, Robert; Sarkans, Ugis; Brazma, Alvis Share Save
Expression Atlas update-a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments Petryszak, Robert; Burdett, Tony; Fiorelli, Benedetto; Fonseca, Nuno A.; Gonzalez-Porta, Mar; Hastings, Emma; Huber, Wolfgang; Jupp, Simon; Keays, Maria; Kryvych, Nataliya; McMurry, Julie; Marioni, John C.; Malone, James; Megy, Karine; Rustici, Gabriella; Tang, Amy Y.; Taubert, Jan; Williams, Eleanor; Mannion, Oliver; Parkinson, Helen E.; Brazma, Alvis Share Save
ArrayExpress update-trends in database growth and links to data analysis tools Rustici, Gabriella; Kolesnikov, Nikolay; Brandizi, Marco; Burdett, Tony; Dylag, Miroslaw; Emam, Ibrahim; Farne, Anna; Hastings, Emma; Ison, Jon; Keays, Maria; Kurbatova, Natalja; Malone, James; Mani, Roby; Mupo, Annalisa; Pereira, Rui Pedro; Pilicheva, Ekaterina; Rung, Johan; Sharma, Anjan; Tang, Y. Amy; Ternent, Tobias; Tikhonov, Andrew; Welter, Danielle; Williams, Eleanor; Brazma, Alvis; Parkinson, Helen; Sarkans, Ugis Share Save
Gene Expression Atlas update-a value-added database of microarray and sequencing-based functional genomics experiments Kapushesky, Misha; Adamusiak, Tomasz; Burdett, Tony; Culhane, Aedin; Farne, Anna; Filippov, Alexey; Holloway, Ele; Klebanov, Andrey; Kryvych, Nataliya; Kurbatova, Natalja; Kurnosov, Pavel; Malone, James; Melnichuk, Olga; Petryszak, Robert; Pultsin, Nikolay; Rustici, Gabriella; Tikhonov, Andrew; Travillian, Ravensara S.; Williams, Eleanor; Zorin, Andrey; Parkinson, Helen; Brazma, Alvis Share Save
ArrayExpress update-an archive of microarray and high-throughput sequencing-based functional genomics experiments Parkinson, Helen; Sarkans, Ugis; Kolesnikov, Nikolay; Abeygunawardena, Niran; Burdett, Tony; Dylag, Miroslaw; Emam, Ibrahim; Farne, Anna; Hastings, Emma; Holloway, Ele; Kurbatova, Natalja; Lukk, Margus; Malone, James; Mani, Roby; Pilicheva, Ekaterina; Rustici, Gabriella; Sharma, Anjan; Williams, Eleanor; Adamusiak, Tomasz; Brandizi, Marco; Sklyar, Nataliya; Brazma, Alvis Share Save
Gene Expression Atlas at the European Bioinformatics Institute Kapushesky, Misha; Emam, Ibrahim; Holloway, Ele; Kurnosov, Pavel; Zorin, Andrey; Malone, James; Rustici, Gabriella; Williams, Eleanor; Parkinson, Helen; Brazma, Alvis Share Save
ArrayExpress update-from an archive of functional genomics experiments to the atlas of gene expression Parkinson, Helen; Kapushesky, Misha; Kolesnikov, Nikolay; Rustici, Gabriella; Shojatalab, Mohammad; Abeygunawardena, Niran; Berube, Hugo; Dylag, Miroslaw; Emam, Ibrahim; Farne, Anna; Holloway, Ele; Lukk, Margus; Malone, James; Mani, Roby; Pilicheva, Ekaterina; Rayner, Tim F.; Rezwan, Faisal; Sharma, Anjan; Williams, Eleanor; Bradley, Xiangqun Zheng; Adamusiak, Tomasz; Brandizi, Marco; Burdett, Tony; Coulson, Richard; Krestyaninova, Maria; Kurnosov, Pavel; Maguire, Eamonn; Neogi, Sudeshna Guha; Rocca-Serra, Philippe; Sansone, Susanna-Assunta; Sklyar, Nataliya; Zhao, Mengyao; Sarkans, Ugis; Brazma, Alvis Share Save
Interchromosomal segmental duplications explain the unusual structure of PRSS3, the gene for an inhibitor-resistant trypsinogen Rowen, L; Williams, E; Glusman, G; Linardopoulou, E; Friedman, C; Ahearn, ME; Seto, J; Boysen, C; Qin, SZ; Wang, K; Kaur, A; Bloom, S; Hood, L; Trask, BJ Share Save
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