학술논문
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공정이용 지침
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위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
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'학술논문'
에서 검색결과 110건 | 목록
1~20
Conference
2021 IEEE International Geoscience and Remote Sensing Symposium IGARSS Geoscience and Remote Sensing Symposium IGARSS , 2021 IEEE International. :868-871 Jul, 2021
Conference
Geudtner, Dirk; Gebert, Nico; Tossaint, Michel; Davidson, Malcolm; Heliere, Florence; Navas Traver, Ignacio; Furnell, Robert; Torres, Ramon
2021 IEEE Radar Conference (RadarConf21) Radar Conference (RadarConf21), 2021 IEEE. :1-6 May, 2021
Conference
2021 IEEE International Geoscience and Remote Sensing Symposium IGARSS Geoscience and Remote Sensing Symposium IGARSS , 2021 IEEE International. :872-873 Jul, 2021
Academic Journal
Kävrestad, Joakim, 1989; Hagberg, Allex; Nohlberg, Marcus, 1976; Rambusch, Jana; Roos, Robert; Furnell, Steven
Utveckling av beslutsstöd för användare i riskfyllda situationer online Future Internet. 14(4)
Report
Evitts, Jack J.; Froebrich, Dirk; Scholz, Aleks; Eislöffel, Jochen; Campbell-White, Justyn; Furnell, Will; Urtly, Thomas; Pickard, Roger; Wiersema, Klaas; Dubovský, Pavol A.; Kudzej, Igor; Naves, Ramon; Aimar, Mario Morales; García, Rafael Castillo; Vanmunster, Tonny; Schwendeman, Erik; Alfaro, Francisco C. Soldán; Johnstone, Stephen; Farfán, Rafael Gonzalez; Killestein, Thomas; Casal, Jesús Delgado; de la Cuesta, Faustino García; Roberts, Dean; Kolb, Ulrich; Montoro, Luís; Licchelli, Domenico; Perez, Alex Escartin; Perez, Carlos Perelló; Deldem, Marc; Futcher, Stephen R. L.; Nelson, Tim; Dvorak, Shawn; Moździerski, Dawid; Quinn, Nick; Kotysz, Krzysztof; Kowalska, Katarzyna; Mikołajczyk, Przemysław; Fleming, George; Phillips, Mark; Vale, Tony; Dubois, Franky; Logie, Ludwig; Rau, Steve; Vanaverbeke, Siegfried; Merrikin, Barry; Mañanes, Esteban Fernández; Erdelyi, Emery; Carballo, Juan-Luis Gonzalez; Martinez, Fernando Limon; Long, Timothy P.; Delgado, Adolfo San Segundo; González, Josép Luis Salto; Espasa, Luis Tremosa; Piehler, Georg; Crumpton, James; Dover, Lord; Billington, Samuel J.; DArcy, Emma; Makin, Sally V.; Stecklum, Bringfried
Academic Journal
Richards-Belle, Alvin; Orzechowska, Izabella; Gould, Doug W.; Thomas, Karen; Doidge, James C.; Mouncey, Paul R.; Christian, Michael D.; Shankar-Hari, Manu; Harrison, David A.; Rowan, Kathryn M.; Banjo, Yemi; Borowczak, Kasia; Cousins, Tom; Cummins, Peter; Dalemo, Keji; Darnell, Robert; Demissie, Hanna; Drikite, Laura; Fleming, Andrew; Frederiksen, Ditte; Furnell, Sarah; Hussein, Abdo; Koelewyn, Abby; Matthews, Tim; Peters, Sam; Samuels, Tyrone; Saull, Michelle
Intensive Care Med
Intensive Care Medicine
Intensive Care Medicine
Academic Journal
Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; Carss, K; Stephens, J; Stirrups, K; Penkett, C; Mapeta, R; Ashford, S; Megy, K; Shakeel, H; Ahmed, M; Adlard, J; Barwell, J; Brewer, C; Casey, RT; Armstrong, R; Cole, T; Evans, DG; Fostira, F; Greenhalgh, L; Hanson, H; Henderson, A; Hoffman, J; Izatt, L; Kumar, A; Kwong, A; Lalloo, F; Ong, KR; Paterson, J; Park, S-M; Chen-Shtoyerman, R; Searle, C; Side, L; Skytte, A-B; Snape, K; Woodward, ER; Tischkowitz, MD; Maher, ER; Aitman, T; Alachkar, H; Ali, S; Allen, L; Allsup, D; Ambegaonkar, G; Anderson, J; Antrobus, R; Arno, G; Arumugakani, G; Astle, W; Attwood, A; Austin, S; Bacchelli, C; Bakchoul, T; Bariana, TK; Baxendale, H; Bennett, D; Bethune, C; Bibi, S; Bitner-Glindzicz, M; Bleda, M; Boggard, H; Bolton-Maggs, P; Booth, C; Bradley, JR; Brady, A; Brown, M; Browning, M; Bryson, C; Burns, S; Calleja, P; Canham, N; Carmichael, J; Caulfield, M; Chalmers, E; Chandra, A; Chinnery, P; Chitre, M; Church, C; Clement, E; Clements-Brod, N; Clowes, V; Coghlan, G; Collins, P; Cookson, V; Cooper, N; Corris, P; Creaser-Myers, A; Dacosta, R; Daugherty, L; Davies, S; Davis, J; De Vries, M; Deegan, P; Deevi, SVV; Deshpande, C; Devlin, L; Dewhurst, E; Dixon, P; Doffinger, R; Dormand, N; Drewe, E; Edgar, D; Egner, W; Erber, WN; Erwood, M; Everington, T; Favier, R; Firth, H; Fletcher, D; Flinter, F; Frary, A; Freson, K; Furie, B; Furnell, A; Gale, D; Gardham, A; Gattens, M; Ghali, N; Ghataorhe, PK; Ghurye, R; Gibbs, S; Gilmour, K; Gissen, P; Goddard, S; Gomez, K; Gordins, P; Graf, S; Gräf, S; Greene, D; Greenhalgh, A; Greinacher, A; Grigoriadou, S; Grozeva, D; Hackett, S; Hadinnapola, C; Hague, R; Haimel, M; Halmagyi, C; Hammerton, T; Hart, D; Hayman, G; Heemskerk, JWM; Henderson, R; Hensiek, A; Henskens, Y; Herwadkar, A; Holden, S; Holder, M; Holder, S; Hu, F; Veld, A; Huissoon, A; Humbert, M; Hurst, J; James, R; Jolles, S; Josifova, D; Kazmi, R; Keeling, D; Kelleher, P; Kelly, AM; Kennedy, F; Kiely, D; Kingston, N; Koziell, A; Krishnakumar, D; Kuijpers, TW; Kuijpers, T; Kumararatne, D; Kurian, M; Laffan, MA; Lambert, MP; Allen, HL; Lango-Allen, H; Lawrie, A; Lear, S; Lees, M; Lentaigne, C; Liesner, R; Linger, R; Longhurst, H; Lorenzo, L; Louka, E; Machado, R; Ross, RM; Maclaren, R; Maher, E; Maimaris, J; Mangles, S; Manson, A; Markus, HS; Martin, J; Masati, L; Mathias, M; Matser, V; Maw, A; McDermott, E; McJannet, C; Meacham, S; Meehan, S; Mehta, S; Michaelides, M; Millar, CM; Moledina, S; Moore, A; Morrell, N; Mumford, A; Murng, S; Murphy, E; Nejentsev, S; Noorani, S; Nurden, P; Oksenhendler, E; Othman, S; Ouwehand, WH; Papadia, S; Parker, A; Pasi, J; Patch, C; Payne, J; Peacock, A; Peerlinck, K; Penkett, CJ; Pepke-Zaba, J; Perry, D; Perry, DJ; Pollock, V; Polwarth, G; Ponsford, M; Qasim, W; Quinti, I; Rankin, S; Rankin, J; Raymond, FL; Rayner-Matthews, P; Rehnstrom, K; Reid, E; Rhodes, CJ; Richards, M; Richardson, S; Richter, A; Roberts, I; Rondina, M; Rosser, E; Roughley, C; Roy, N; Rue-Albrecht, K; Samarghitean, C; Sanchis-Juan, A; Sandford, R; Santra, S; Sargur, R; Savic, S; Schotte, G; Schulman, S; Schulze, H; Scott, R; Scully, M; Seneviratne, S; Sewell, C; Shamardina, O; Shipley, D; Simeoni, I; Sivapalaratnam, S; Smith, KGC; Sohal, A; Southgate, L; Staines, S; Staples, E; Stark, H; Stauss, H; Stein, P; Stock, S; Suntharalingam, J; Talks, K; Tan, Y; Thachil, J; Thaventhiran, J; Thomas, E; Thomas, M; Thompson, D; Thrasher, A; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Van Geet, C; Veltman, M; Vogt, J; Von Ziegenweldt, J; Noordegraaf, AV; Wakeling, E; Wanjiku, I; Warner, TQ; Wassmer, E; Watkins, H; Watt, C; Webster, N; Welch, S; Westbury, S; Wharton, J; Whitehorn, D; Wilkins, M; Willcocks, L; Williamson, C; Woods, G; Wort, J; Yeatman, N; Yong, P; Young, T; Yu, P
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American journal of human genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
Whitworth, J, Smith, P S, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, R T, Armstrong, R, Cole, T, Evans, D G, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, K R, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, E R & NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, ' Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes ', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18 . https://doi.org/10.1016/j.ajhg.2018.04.013
NIHR BioResource Rare Diseases Consortium & Evans, D G 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', Cell, vol. 103, no. 1. https://doi.org/10.1016/j.ajhg.2018.04.013
American Journal of Human Genetics
AMERICAN JOURNAL OF HUMAN GENETICS
NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American journal of human genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
Whitworth, J, Smith, P S, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, R T, Armstrong, R, Cole, T, Evans, D G, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, K R, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, E R & NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, ' Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes ', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18 . https://doi.org/10.1016/j.ajhg.2018.04.013
NIHR BioResource Rare Diseases Consortium & Evans, D G 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', Cell, vol. 103, no. 1. https://doi.org/10.1016/j.ajhg.2018.04.013
American Journal of Human Genetics
Academic Journal
Peter J. Holliman; Christopher Kershaw; Arthur Connell; Eurig W. Jones; Robert Hobbs; Rosie Anthony; Leo Furnell; James McGettrick; Dawn Geatches; Sebastian Metz
Science and Technology of Advanced Materials, Vol 19, Iss 1, Pp 599-612 (2018)
Academic Journal
Ito, Yoko; Carss, Keren; Duarte, Sofia; Hartley, Taila; Keren, Boris; Kurian, Manju; Marey, Isabelle; Charles, Perinne; Mendonça, Carla; Nava, Caroline; Pfundt, Rolph; Sanchis-Juan, Alba; van Bokhoven, Hans; van Essen, Anthony; van Ravenswaaij-Arts, Conny; Boycott, Kym; Kernohan, Kristin; Dyack, Sarah; Raymond, F. Lucy; Aitman, Timothy; Bennett, David; Caulfield, Mark; Chinnery, Patrick; Gale, Daniel; Koziell, Ania; Kuijpers, Taco; Laffan, Michael; Maher, Eamonn; Markus, Hugh; Morrell, Nicholas; Ouwehand, Willem; Perry, David; Roberts, Irene; Smith, Kenneth G.C.; Thrasher, Adrian; Watkins, Hugh; Williamson, Catherine; Woods, Geoffrey; Ashford, Sofie; Bradley, John; Fletcher, Debra; Hammerton, Tracey; James, Roger; Kingston, Nathalie; Penkett, Christopher; Stirrups, Kathleen; Veltman, Marijke; Young, Tim; Brown, Matthew; Clements-Brod, Naomi; Davis, John; Dewhurst, Eleanor; Dolling, Helen; Erwood, Marie; Frary, Amy; Linger, Rachel; Martin, Jennifer; Papadia, Sofia; Rehnstrom, Karola; Stark, Hannah; Allsup, David; Austin, Steve; Bakchoul, Tamam; Bariana, Tadbir; Bolton-Maggs, Paula; Chalmers, Elizabeth; Collins, Janine; Collins, Peter; Erber, Wendy; Everington, Tamara; Favier, Remi; Freson, Kathleen; Furie, Bruce; Gattens, Michael; Gebhart, Johanna; Gomez, Keith; Greene, Daniel; Greinacher, Andreas; Gresele, Paolo; Hart, Daniel; Heemskerk, Johan W.M.; Henskens, Yvonne; Kazmi, Rashid; Keeling, David; Kelly, Anne; Lambert, Michele; Lentaigne, Claire; Liesner, Ri; Makris, Mike; Mangles, Sarah; Mathias, Mary; Millar, Carolyn; Mumford, Andrew; Nurden, Paquita; Payne, Jeanette; Pasi, John; Peerlinck, Kathelijne; Revel-Vilk, Shoshana; Richards, Michael; Rondina, Matthew; Roughley, Catherine; Schulman, Sol; Schulze, Harald; Scully, Marie; Sivapalaratnam, Suthesh; Stubbs, Matthew; Tait, R. Campbell; Talks, Kate; Thachil, Jecko; Toh, Cheng-Hock; Turro, Ernest; van Geet, Chris; de Vries, Minka; Warner, Timothy; Watson, Henry; Westbury, Sarah; Furnell, Abigail; Mapeta, Rutendo; Rayner-Matthews, Paula; Simeoni, Ilenia; Staines, Simon; Stephens, Jonathan; Watt, Christopher; Whitehorn, Deborah; Attwood, Antony; Daugherty, Louise; Deevi, Sri V.V.; Halmagyi, Csaba; Hu, Fengyuan; Matser, Vera; Meacham, Stuart; Megy, Karyn; Shamardina, Olga; Titterton, Catherine; Tuna, Salih; Yu, Ping; von Ziegenweldt, Julie; Astle, William; Bleda, Marta; Gräf, Stefan; Haimel, Matthias; Lango-Allen, Hana; Richardson, Sylvia; Calleja, Paul; Rankin, Stuart; Turek, Wojciech; Anderson, Julie; Bryson, Christine; Carmichael, Jenny; Mcjannet, Coleen; Stock, Sophie; Allen, Louise; Ambegaonkar, Gautum; Armstrong, Ruth; Arno, Gavin; Bitner-Glindzicz, Maria; Brady, Angie; Canham, Natalie; Chitre, Manali; Clement, Emma; Clowes, Virginia; Deegan, Patrick; Deshpande, Charu; Doffinger, Rainer; Firth, Helen; Flinter, Frances; French, Courtney; Gardham, Alice; Ghali, Neeti; Gissen, Paul; Grozeva, Detelina; Henderson, Robert; Hensiek, Anke; Holden, Simon; Holder, Muriel; Holder, Susan; Hurst, Jane; Josifova, Dragana; Krishnakumar, Deepa; Lees, Melissa; Maclaren, Robert; Maw, Anna; Mehta, Sarju; Michaelides, Michel; Moore, Anthony; Murphy, Elaine; Park, Soo-Mi; Parker, Alasdair; Patch, Chris; Paterson, Joan; Rankin, Julia; Reid, Evan; Rosser, Elisabeth; Sandford, Richard; Santra, Saikat; Scott, Richard; Sohal, Aman; Stein, Penelope; Thomas, Ellen; Thompson, Dorothy; Tischkowitz, Marc; Vogt, Julie; Wakeling, Emma; Wassmer, Evangeline; Webster, Andrew; Ali, Sonia; Ali, Souad; Boggard, Harm; Church, Colin; Coghlan, Gerry; Cookson, Victoria; Corris, Paul; Creaser-Myers, Amanda; Dacosta, Rosa; Dormand, Natalie; Eyries, Mélanie; Gall, Henning; Ghataorhe, Pavandeep; Ghio, Stefano; Ghofrani, Ardi; Gibbs, J. Simon R.; Girerd, Barbara; Greenhalgh, Alan; Hadinnapola, Charaka; Houweling, Arjan; Humbert, Marc; In’t Veld, Anna Huis; Kennedy, Fiona; Kiely, David; Kovacs, Gabor; Lawrie, Allan; Ross, Rob; Machado, Rajiv; Masati, Larahmie; Meehan, Sharon; Moledina, Shahin; Montani, David; Othman, Shokri; Peacock, Andrew; Pepke-Zaba, Joanna; Pollock, Val; Polwarth, Gary; Ranganathan, Lavanya; Rhodes, Christopher; Rue-Albrecht, Kevin; Schotte, Gwen; Shipley, Debbie; Soubrier, Florent; Southgate, Laura; Scelsi, Laura; Suntharalingam, Jay; Tan, Yvonne; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Vonk Noordegraaf, Anton; Walker, Sara; Wanjiku, Ivy; Wharton, John; Wilkins, Martin; Wort, Stephen; Yates, Katherine; Alachkar, Hana; Antrobus, Richard; Arumugakani, Gururaj; Bacchelli, Chiara; Baxendale, Helen; Bethune, Claire; Bibi, Shahnaz; Booth, Claire; Browning, Michael; Burns, Siobhan; Chandra, Anita; Cooper, Nichola; Davies, Sophie; Devlin, Lisa; Drewe, Elizabeth; Edgar, David; Egner, William; Ghurye, Rohit; Gilmour, Kimberley; Goddard, Sarah; Gordins, Pavel; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Harper, Lorraine; Hayman, Grant; Herwadkar, Archana; Huissoon, Aarnoud; Jolles, Stephen; Kelleher, Peter; Kumararatne, Dinakantha; Lear, Sara; Longhurst, Hilary; Lorenzo, Lorena; Maimaris, Jesmeen; Manson, Ania; Mcdermott, Elizabeth; Murng, Sai; Nejentsev, Sergey; Noorani, Sadia; Oksenhendler, Eric; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Richter, Alex; Samarghitean, Crina; Sargur, Ravishankar; Savic, Sinisa; Seneviratne, Suranjith; Sewell, Carrock; Staples, Emily; Stauss, Hans; Thaventhiran, James; Thomas, Moira; Welch, Steve; Willcocks, Lisa; Yeatman, Nigel; Yong, Patrick; Ancliff, Phil; Babbs, Christian; Layton, Mark; Louka, Eleni; Mcgowan, Simon; Mead, Adam; Roy, Noémi; Chambers, Jenny; Dixon, Peter; Estiu, Cecelia; Hague, Bill; Marschall, Hanns-Ulrich; Simpson, Michael; Chong, Sam; Emmerson, Ingrid; Ginsberg, Lionel; Gosal, David; Hadden, Rob; Horvath, Rita; Mahdi-Rogers, Mohamed; Manzur, Adnan; Marshall, Andrew; Matthews, Emma; Mccarthy, Mark; Reilly, Mary; Renton, Tara; Rice, Andrew; Themistocleous, Andreas; Vale, Tom; van Zuydam, Natalie; Walker, Suellen; Ormondroyd, Liz; Hudson, Gavin; Wei, Wei; Yu Wai Man, Patrick; Whitworth, James; Afzal, Maryam; Colby, Elizabeth; Saleem, Moin; Alavijeh, Omid; Cook, H. Terry; Johnson, Sally; Levine, Adam; Wong, Edwin K.S.; Tan, Rhea; Mackenzie, Alex; Majewski, Jacek; Brudno, Michael; Bulman, Dennis; Dyment, David
Am J Hum Genet
NIHR BioResource & Care4Rare Canada Consortium 2018, 'De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures', American journal of human genetics, vol. 103, no. 1, pp. 144-153. https://doi.org/10.1016/j.ajhg.2018.06.001
American Journal of Human Genetics, 103, 1, pp. 144-153
Ito, Y, Carss, K J, Duarte, S T, Hartley, T, Keren, B, Kurian, M A, Marey, I, Charles, P, Mendonca, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Koziell, A, Boycott, K M & Kernohan, K D & Dyack, S & Raymond, F L 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. ', American Journal of Human Genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001
NIHR BioResource & Care4Rare Canada Consortium 2018, 'De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures', American journal of human genetics, vol. 103, no. 1, pp. 144-153. https://doi.org/10.1016/j.ajhg.2018.06.001
American Journal of Human Genetics, 103, 1, pp. 144-153
Ito, Y, Carss, K J, Duarte, S T, Hartley, T, Keren, B, Kurian, M A, Marey, I, Charles, P, Mendonca, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Koziell, A, Boycott, K M & Kernohan, K D & Dyack, S & Raymond, F L 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. ', American Journal of Human Genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001
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Academic Journal
Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A; Gibbs, Simon; Girerd, Barbara; Holden, Simon; Humbert, Marc; Kiely, David G; Lawrie, Allan; Machado, Rajiv; MacKenzie Ross, Robert; Moledina, Shahin; Montani, David; Newnham, Michael; Peacock, Andrew; Pepke-Zaba, Joanna; Rayner-Matthews, Paula; Shamardina, Olga; Soubrier, Florent; Southgate, Laura; Suntharalingam, Jay; Toshner, Mark; Trembath, Richard; Noordegraaf, Anton Vonk; Wilkins, Martin R; Wort, Stephen J; Wharton, John; Gräf, Stefan; Morrell, Nicholas W; Aitman, Timothy; Bennett, David; Caulfield, Mark; Chinnery, Patrick; Gale, Daniel; Koziell, Ania; Kuijpers, Taco W; Laffan, Michael A; Maher, Eamonn; Markus, Hugh S; Ouwehand, Willem H; Perry, David; Raymond, F Lucy; Roberts, Irene; 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Academic Journal
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Academic Journal
Ernest Turro; William J. Astle; Karyn Megy; Stefan Gräf; Daniel Greene; Olga Shamardina; Hana Lango Allen; Alba Sanchis-Juan; Mattia Frontini; Chantal Thys; Jonathan Stephens; Rutendo Mapeta; Oliver S. Burren; Kate Downes; Matthias Haimel; Salih Tuna; Sri V. V. Deevi; Timothy J. Aitman; David L. Bennett; Paul Calleja; Keren Carss; Mark J. Caulfield; Patrick F. Chinnery; Peter H. Dixon; Daniel P. Gale; Roger James; Ania Koziell; Michael A. Laffan; Adam P. Levine; Eamonn R. Maher; Hugh S. Markus; Joannella Morales; Nicholas W. Morrell; Andrew D. Mumford; Elizabeth Ormondroyd; Stuart Rankin; Augusto Rendon; Sylvia Richardson; Irene Roberts; Noemi B. A. Roy; Moin A. Saleem; Kenneth G. C. Smith; Hannah Stark; Rhea Y. Y. Tan; Andreas C. Themistocleous; Adrian J. Thrasher; Hugh Watkins; Andrew R. Webster; Martin R. Wilkins; Catherine Williamson; James Whitworth; Sean Humphray; David R. Bentley; Stephen Abbs; Lara Abulhoul; Julian Adlard; Munaza Ahmed; Hana Alachkar; David J. Allsup; Jeff Almeida-King; Philip Ancliff; Richard Antrobus; Ruth Armstrong; Gavin Arno; Sofie Ashford; Anthony Attwood; Paul Aurora; Christian Babbs; Chiara Bacchelli; Tamam Bakchoul; Siddharth Banka; Tadbir Bariana; Julian Barwell; Joana Batista; Helen E. Baxendale; Phil L. Beales; Agnieszka Bierzynska; Tina Biss; Maria A. K. Bitner-Glindzicz; Graeme C. Black; Marta Bleda; Iulia Blesneac; Detlef Bockenhauer; Harm Bogaard; Christian J. Bourne; Sara Boyce; John R. Bradley; Eugene Bragin; Gerome Breen; Paul Brennan; Carole Brewer; Matthew Brown; Andrew C. Browning; Michael J. Browning; Rachel J. Buchan; Matthew S. Buckland; Teofila Bueser; Carmen Bugarin Diz; John Burn; Siobhan O. Burns; Nigel Burrows; Carolyn Campbell; Gerald Carr-White; Ruth Casey; Jenny Chambers; John Chambers; Melanie M. Y. Chan; Calvin Cheah; Floria Cheng; Manali Chitre; Martin T. Christian; Colin Church; Jill Clayton-Smith; Maureen Cleary; Naomi Clements Brod; Gerry Coghlan; Elizabeth Colby; Trevor R. P. Cole; Janine Collins; Peter W. Collins; Camilla Colombo; Cecilia J. Compton; Robin Condliffe; Stuart Cook; H. Terence Cook; Nichola Cooper; Paul A. Corris; Abigail Furnell; Fiona Cunningham; Nicola S. Curry; Antony J. Cutler; Matthew J. Daniels; Mehul Dattani; Louise C. Daugherty; John Davis; Anthony De Soyza; Timothy Dent; Charu Deshpande; Eleanor F. Dewhurst; Sofia Douzgou; Anna M. Drazyk; Elizabeth Drewe; Daniel Duarte; Tina Dutt; J. David M. Edgar; Karen Edwards; William Egner; Melanie N. Ekani; Perry Elliott; Wendy N. Erber; Marie Erwood; Maria C. Estiu; Dafydd Gareth Evans; Gillian Evans; Tamara Everington; Mélanie Eyries; Hiva Fassihi; Remi Favier; Jack Findhammer; Debra Fletcher; Frances A. Flinter; R. Andres Floto; Tom Fowler; James Fox; Amy J. Frary; Courtney E. French; Kathleen Freson; Henning Gall; Vijeya Ganesan; Michael Gattens; Claire Geoghegan; Terence S. A. Gerighty; Ali G. Gharavi; Stefano Ghio; Hossein-Ardeschir Ghofrani; J. Simon R. Gibbs; Kate Gibson; Kimberly C. Gilmour; Barbara Girerd; Nicholas S. Gleadall; Sarah Goddard; David B. Goldstein; Keith Gomez; Pavels Gordins; David Gosal; Jodie Graham; Luigi Grassi; Lynn Greenhalgh; Andreas Greinacher; Paolo Gresele; Philip Griffiths; Sofia Grigoriadou; Russell J. Grocock; Detelina Grozeva; Mark Gurnell; Scott Hackett; Charaka Hadinnapola; William M. Hague; Rosie Hague; Matthew Hall; Helen L. Hanson; Eshika Haque; Kirsty Harkness; Andrew R. Harper; Claire L. Harris; Daniel Hart; Ahamad Hassan; Grant Hayman; Alex Henderson; Archana Herwadkar; Jonathan Hoffman; Simon Holden; Rita Horvath; Henry Houlden; Arjan C. Houweling; Luke S. Howard; Fengyuan Hu; Gavin Hudson; Joseph Hughes; Aarnoud P. Huissoon; Marc Humbert; Sarah Hunter; Matthew Hurles; Melita Irving; Louise Izatt; Sally A. Johnson; Stephen Jolles; Jennifer Jolley; Dragana Josifova; Neringa Jurkute; Tim Karten; Johannes Karten; Mary A. Kasanicki; Hanadi Kazkaz; Rashid Kazmi; Peter Kelleher; Anne M. Kelly; Wilf Kelsall; Carly Kempster; David G. Kiely; Nathalie Kingston; Robert Klima; Nils Koelling; Myrto Kostadima; Gabor Kovacs; Roman Kreuzhuber; Taco W. Kuijpers; Ajith Kumar; Dinakantha Kumararatne; Manju A. Kurian; Fiona Lalloo; Michele Lambert; Allan Lawrie; D. Mark Layton; Nick Lench; Claire Lentaigne; Tracy Lester; Rachel Linger; Hilary Longhurst; Lorena E. Lorenzo; Eleni Louka; Paul A. Lyons; Rajiv D. Machado; Robert V. MacKenzie Ross; Bella Madan; Jesmeen Maimaris; Samantha Malka; Sarah Mangles; Kevin J. Marchbank; Stephen Marks; Hanns-Ulrich Marschall; Andrew Marshall; Jennifer Martin; Mary Mathias; Emma Matthews; Heather Maxwell; Paul McAlinden; Mark I. McCarthy; Harriet McKinney; Aoife McMahon; Stuart Meacham; Adam J. Mead; Ignacio Medina Castello; Sarju G. Mehta; Michel Michaelides; Carolyn Millar; Shehla N. Mohammed; Shahin Moledina; David Montani; Anthony T. Moore; Monika Mozere; Keith W. Muir; Andrea H. Nemeth; William G. Newman; Michael Newnham; Sadia Noorani; Paquita Nurden; Jennifer O’Sullivan; Samya Obaji; Chris Odhams; Steven Okoli; Andrea Olschewski; Horst Olschewski; Kai Ren Ong; S. Helen Oram; Willem H. Ouwehand; Claire Palles; Sofia Papadia; Soo-Mi Park; David Parry; Smita Patel; Joan Paterson; Andrew Peacock; Simon H. Pearce; John Peden; Kathelijne Peerlinck; Christopher J. Penkett; Joanna Pepke-Zaba; Romina Petersen; Clarissa Pilkington; Kenneth E. S. Poole; Radhika Prathalingam; Bethan Psaila; Angela Pyle; Richard Quinton; Shamima Rahman; Anupama Rao; F. Lucy Raymond; Paula J. Rayner-Matthews; Christine Rees; Tara Renton; Christopher J. Rhodes; Andrew S. C. Rice; Alex Richter; Leema Robert; Anthony Rogers; Sarah J. Rose; Robert Ross-Russell; Catherine Roughley; Deborah M. Ruddy; Omid Sadeghi-Alavijeh; Nilesh Samani; Crina Samarghitean; Ravishankar B. Sargur; Robert N. Sarkany; Simon Satchell; Sinisa Savic; John A. Sayer; Genevieve Sayer; Laura Scelsi; Andrew M. Schaefer; Sol Schulman; Richard Scott; Marie Scully; Claire Searle; Werner Seeger; Arjune Sen; W. A. Carrock Sewell; Denis Seyres; Neil Shah; Susan E. Shapiro; Adam C. Shaw; Patrick J. Short; Keith Sibson; Lucy Side; Ilenia Simeoni; Michael A. Simpson; Matthew C. Sims; Suthesh Sivapalaratnam; Damian Smedley; Katherine R. Smith; Katie Snape; Nicole Soranzo; Florent Soubrier; Laura Southgate; Olivera Spasic-Boskovic; Simon Staines; Emily Staples; Charles Steward; Kathleen E. Stirrups; Alex Stuckey; Jay Suntharalingam; Emilia M. Swietlik; Petros Syrris; R. Campbell Tait; Kate Talks; Katie Tate; John M. Taylor; Jenny C. Taylor; James E. Thaventhiran; Ellen Thomas; David Thomas; Moira J. Thomas; Patrick Thomas; Kate Thomson; Glen Threadgold; Tobias Tilly; Marc Tischkowitz; Catherine Titterton; John A. Todd; Cheng-Hock Toh; Bas Tolhuis; Ian P. Tomlinson; Mark Toshner; Matthew Traylor; Carmen Treacy; Paul Treadaway; Richard Trembath; Wojciech Turek; Philip Twiss; Tom Vale; Chris Van Geet; Natalie van Zuydam; Maarten Vandekuilen; Anthony M. Vandersteen; Marta Vazquez-Lopez; Julie von Ziegenweidt; Anton Vonk Noordegraaf; Annette Wagner; Quinten Waisfisz; Suellen M. Walker; Neil Walker; Klaudia Walter; James S. Ware; Christopher Watt; Lucy Wedderburn; Wei Wei; Steven B. Welch; Julie Wessels; Sarah K. Westbury; John-Paul Westwood; John Wharton; Deborah Whitehorn; Andrew O. M. Wilkie; Brian T. Wilson; Edwin K. S. Wong; Nicholas Wood; Yvette Wood; Christopher Geoffrey Woods; Emma R. Woodward; Stephen J. Wort; Austen Worth; Michael Wright; Katherine Yates; Patrick F. K. Yong; Timothy Young; Ping Yu; Patrick Yu-Wai-Man; Eliska Zlamalova
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts , I, Roy, N B A, Saleem, M A, Smith, K G C, Stark, H, Tan, R Y Y, Themistocleous, A C, Thrasher, A J, Watkins, H, Webster, A R, Wilkins, M R, Williamson, C, Whitworth, J, Humphray, S, Bentley, D R, Abbs, S, Abulhoul, L, Adlard, J, Ahmed, M, Aitman, T J, Alachkar, H, Allsup, D J, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W J, Attwood, A, Aurora, P, Babbs, C, Bacchelli, C, Bakchoul, T, Banka, S, Bariana, T, Barwell, J, Batista, J, Baxendale, H E, Beales, P L, Bennett, D L, Bentley, D R, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Black, G C, Bleda, M, Blesneac, I, Bockenhauer, D, Bogaard, H, Bourne, C J, Boyce, S, Bradley, J R, Bragin, E, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, A C, Browning, M J, Buchan, R J, Buckland, M S, Bueser, T, Diz, C B, Burn, J, Burns, S O, Burren, O S, Burrows, N, Calleja, P, Campbell, C, Carr-White, G, Carss, K, Casey, R, Caulfield, M J, Chambers, J, Chambers, J, Chan, M M Y, Cheah, C, Cheng, F, Chinnery, P F, Chitre, M, Christian, M T, Church, C, Clayton-Smith, J, Cleary, M, Brod, N C, Coghlan, G, Colby, E, Cole, T R P, Collins, J, Collins, P W, Colombo, C, Compton, C J, Condliffe, R, Cook, S, Cook, H T, Cooper, N, Corris, PA A, Furnell , A, Cunningham, F, Curry, N S, Cutler, A J, Daniels, M J, Dattani, M, Daugherty, L C, Davis, J, De Soyza, A, Deevi, S V V, Dent, T, Deshpande, C, Dewhurst, E F, Dixon, P H, Douzgou, S, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K, Egner, W, Ekani, M N, Elliott, P, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Fassihi, H, Favier, R, Findhammer, J, Fletcher, D, Flinter, F A, Floto, R A, Fowler, T, Fox, J, Frary, A J, French, C E, Freson, K, Frontini, M, Gale, D P, Gall, H, Ganesan, V, Gattens, M, Geoghegan, C, Gerighty, T S A, Gharavi, A G, Ghio, S, Ghofrani, H A, Gibbs, J S R, Gibson, K, Gilmour, K C, Girerd, B, Gleadall, N S, Goddard, S, Goldstein, D B, Gomez, K, Gordins, P, Gosal, D, Gräf, S, Graham, J, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R J, Grozeva, D, Gurnell, M, Hackett, S, Hadinnapola, C, Hague, W M, Hague, R, Haimel, M, Hall, M, Hanson, H L, Haque, E, Harkness, K, Harper, A R, Harris, CL L, Hart, D, Hassan, A, Hayman, G, Henderson, A, Herwadkar, A, Hoffman, J, Holden, S, Horvath, R, Houlden, H, Houweling, AC C, Howard, L S, Hu, F, Hudson, G, Hughes, J, Huissoon, A P, Humbert, M, Humphray, S, Hunter, S, Hurles, M, Irving, M, Izatt, L, James, R, Johnson, S A, Jolles, S, Jolley, J, Josifova, D, Jurkute, N, Karten, T, Karten, J, Kasanicki, M A, Kazkaz, H, Kazmi, R, Kelleher, P, Kelly, A M, Kelsall, W, Kempster, C, Kiely, D G, Kingston, N, Klima, R, Koelling, N, Kostadima, M, Kovacs, G, Koziell, A, Kreuzhuber, R, Kuijpers, T W, Kumar, A, Kumararatne, D, Kurian, M A, Laffan, M A, Lalloo, F, Lambert, M, Allen, H L, Lawrie, A, Layton, D M, Lench, N, Lentaigne, C, Lester, T, Levine, A P, Linger, R, Longhurst, H, Lorenzo, L E, Louka, E, Lyons, P A, Machado, R D, MacKenzie Ross, R V, Madan, B, Maher, E R, Maimaris, J, Malka, S, Mangles, S, Mapeta, R, Marchbank, K J, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M I, McKinney, H, McMahon, A, Meacham, S, Mead, A J, Castello, I M, Megy, K, Mehta, SG G, Michaelides, M, Millar, C, Mohammed, S N, Moledina, S, Montani, D, Moore, A T, Morales, J, Morrell, N W, Mozere, M, Muir, K W, Mumford, A D, Nemeth, A H, Newman, W G, Newnham, M, Noorani, S, Nurden, P, O’Sullivan, J, Obaji, S, Odhams, C, Okoli, S, Olschewski, A, Olschewski, H, Ong, K R, Oram, S H, Ormondroyd, E, Ouwehand, W H, Palles, C, Papadia, S, Park, S M, Parry, D, Patel, S, Paterson, J, Peacock, A, Pearce, SH H, Peden, J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Petersen, R, Pilkington, C, Poole, K E S, Prathalingam, R, Psaila, B, Pyle, A, Quinton, R, Rahman, S, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rees, C, Rendon, A, Renton, T, Rhodes, C J, Rice, A S C, Richardson, S, Richter, A, Robert , L, Roberts , I, Rogers, A, Rose, S J, Ross-Russell, R, Roughley, C, Roy, N B A, Ruddy, D M, Sadeghi-Alavijeh, O, Saleem, M A, Samani, N, Samarghitean, C, Sanchis-Juan, A, Sargur, R B, Sarkany, R N, Satchell, S, Savic, S, Sayer, J A, Sayer, G, Scelsi, L, Schaefer, A M, Schulman, S, Scott, R, Scully, M, Searle, C, Seeger, W, Sen, A, Sewell, W A C, Seyres, D, Shah, N, Shamardina, O, Shapiro, S E, Shaw, A C, Short, P J, Sibson, K, Side, L, Simeoni, I, Simpson, MA A, Sims, M C, Sivapalaratnam, S, Smedley, D, Smith, K R, Smith, K G C, Snape, K, Soranzo, N, Soubrier, F, Southgate, L, Spasic-Boskovic, O, Staines, S, Staples, E, Stark, H, Stephens, J, Steward, C, Stirrups, K E, Stuckey, A, Suntharalingam, J, Swietlik, E M, Syrris, P, Tait, R C, Talks, K, Tan, R Y Y, Tate, K, Taylor, J M, Taylor, J C, Thaventhiran, J E, Themistocleous, A C, Thomas, E, Thomas, D, Thomas, M J, Thomas, P, Thomson, K, Thrasher, A J, Threadgold, G, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tolhuis, B, Tomlinson, I P, Toshner, M, Traylor, M, Treacy, C, Treadaway, P, Trembath, R, Tuna, S, Turek, W, Turro, E, Twiss, P, Vale, T, Geet, C V, Zuydam, N V, Vandekuilen, M, Vandersteen, A M, Vazquez-Lopez, M, von Ziegenweidt, J, Vonk Noordegraaf, A, Wagner, A, Waisfisz, Q, Walker, S M, Walker, N, Walter, K, Ware, J S, Watkins, H, Watt, C, Webster, A R, Wedderburn, L, Wei, W, Welch, S B, Wessels, J, Westbury, S K, Westwood, J P, Wharton, J, Whitehorn, D, Whitworth, J, Wilkie, A O M, Wilkins, M R, Williamson, C, Wilson, B T, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, ER R, Wort, S J, Worth, A, Wright, M, Yates, K, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Kingston, N, Walker, N, Bradley, J R, Ashford, S, Penkett, C J, Freson, K, Stirrups, K E, Raymond, F L, Ouwehand, W H & NIHR BioResource for the 100,000 Genomes Project 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, no. 7814, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, no. 7814, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Nature
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, no. 7814, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Nature
Academic Journal
Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; Holder, GE; Cheetham, ME; Plagnol, V; Moore, AT; Raymond, FL; Matter, K; Balda, MS; Webster, AR; Black, G; Hall, G; Ingram, S; Gillespie, R; Manson, F; Sergouniotis, P; Inglehearn, C; Toomes, C; Ali, M; McKibbin, M; Poulter, J; Khan, K; Lord, E; Nemeth, A; Downes, S; Halford, S; Yu, J; Lise, S; Ponitkos, N; Michaelides, M; van Heyningen, V; Aitman, T; Alachkar, H; Ali, S; Allen, L; Allsup, D; Ambegaonkar, G; Anderson, J; Antrobus, R; Armstrong, R; Arumugakani, G; Ashford, S; Astle, W; Attwood, A; Austin, S; Bacchelli, C; Bakchoul, T; Bariana, TK; Baxendale, H; Bennett, D; Bethune, C; Bibi, S; Bitner-Glindzicz, M; Bleda, M; Boggard, H; Bolton-Maggs, P; Booth, C; Bradley, JR; Brady, A; Brown, M; Browning, M; Bryson, C; Burns, S; Calleja, P; Canham, N; Carmichael, J; Carss, K; Caulfield, M; Chalmers, E; Chandra, A; Chinnery, P; Chitre, M; Church, C; Clement, E; Clements-Brod, N; Clowes, V; Coghlan, G; Collins, P; Cooper, N; Creaser-Myers, A; DaCosta, R; Daugherty, L; Davies, S; Davis, J; De Vries, M; Deegan, P; Deevi, SVV; Deshpande, C; Devlin, L; Dewhurst, E; Doffinger, R; Dormand, N; Drewe, E; Edgar, D; Egner, W; Erber, WN; Erwood, M; Everington, T; Favier, R; Firth, H; Fletcher, D; Flinter, F; Fox, JC; Frary, A; Freson, K; Furie, B; Furnell, A; Gale, D; Gardham, A; Gattens, M; Ghali, N; Ghataorhe, PK; Ghurye, R; Gibbs, S; Gilmour, K; Gissen, P; Goddard, S; Gomez, K; Gordins, P; Gräf, S; Greene, D; Greenhalgh, A; Greinacher, A; Grigoriadou, S; Grozeva, D; Hackett, S; Hadinnapola, C; Hague, R; Haimel, M; Halmagyi, C; Hammerton, T; Hart, D; Hayman, G; Heemskerk, JWM; Henderson, R; Hensiek, A; Henskens, Y; Herwadkar, A; Holden, S; Holder, M; Holder, S; Hu, F; Huissoon, A; Humbert, M; Hurst, J; James, R; Jolles, S; Josifova, D; Kazmi, R; Keeling, D; Kelleher, P; Kelly, AM; Kennedy, F; Kiely, D; Kingston, N; Koziell, A; Krishnakumar, D; Kuijpers, TW; Kumararatne, D; Kurian, M; Laffan, MA; Lambert, MP; Allen, HL; Lawrie, A; Lear, S; Lees, M; Lentaigne, C; Liesner, R; Linger, R; Longhurst, H; Lorenzo, L; Machado, R; Mackenzie, R; MacLaren, R; Maher, E; Maimaris, J; Mangles, S; Manson, A; Mapeta, R; Markus, HS; Martin, J; Masati, L; Mathias, M; Matser, V; Maw, A; McDermott, E; McJannet, C; Meacham, S; Meehan, S; Megy, K; Mehta, S; Millar, CM; Moledina, S; Moore, A; Morrell, N; Mumford, A; Murng, S; Murphy, E; Nejentsev, S; Noorani, S; Nurden, P; Oksenhendler, E; Ouwehand, WH; Papadia, S; Park, S-M; Parker, A; Pasi, J; Patch, C; Paterson, J; Payne, J; Peacock, A; Peerlinck, K; Penkett, CJ; Pepke-Zaba, J; Perry, DJ; Pollock, V; Polwarth, G; Ponsford, M; Qasim, W; Quinti, I; Rankin, S; Rankin, J; Rehnstrom, K; Reid, E; Rhodes, CJ; Richards, M; Richardson, S; Richter, A; Roberts, I; Rondina, M; Rosser, E; Roughley, C; Rue-Albrecht, K; Samarghitean, C; Sanchis-Juan, A; Sandford, R; Santra, S; Sargur, R; Savic, S; Schulman, S; Schulze, H; Scott, R; Scully, M; Seneviratne, S; Sewell, C; Shamardina, O; Shipley, D; Simeoni, I; Sivapalaratnam, S; Smith, K; Sohal, A; Southgate, L; Staines, S; Staples, E; Stauss, H; Stein, P; Stephens, J; Stirrups, K; Stock, S; Suntharalingam, J; Tait, RC; Talks, K; Tan, Y; Thachil, J; Thaventhiran, J; Thomas, E; Thomas, M; Thompson, D; Thrasher, A; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Van Geet, C; Veltman, M; Vogt, J; von Ziegenweldt, J; Noordegraaf, AV; Wakeling, E; Wanjiku, I; Warner, TQ; Wassmer, E; Watkins, H; Webster, A; Welch, S; Westbury, S; Wharton, J; Whitehorn, D; Wilkins, M; Willcocks, L; Williamson, C; Woods, G; Wort, J; Yeatman, N; Yong, P; Young, T; Yu, P
UK Inherited Retinal Disease Consortium, NIHR BioResource Rare Diseases Consortium, NIHR BioResource Rare Diseases Consortium & NIHR Bioresource – Rare Diseases Consortium 2017, 'Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration', American journal of human genetics, vol. 100, no. 2, pp. 334-342. https://doi.org/10.1016/j.ajhg.2016.12.014
Arno, G, Carss, K J, Hull, S, Zihni, C, Robson, A G, Fiorentino, A, Hardcastle, A J, Holder, G E, Cheetham, M E, Plagnol, V, Moore, A T, Raymond, F L, Matter, K, Balda, M S, Webster, A R, Uk Inherited Retinal Disease Consortium & Black, G 2017, 'Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2016.12.014
Arno, G, Carss, K J, Hull, S, Zihni, C, Robson, A G, Fiorentino, A, Hardcastle, A J, Holder, G E, Cheetham, M E, Plagnol, V, Moore, A T, Raymond, F L, Matter, K, Balda, M S, Webster, A R, Uk Inherited Retinal Disease Consortium & Black, G 2017, 'Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2016.12.014
Academic Journal
Farmery, James; Smith, Mike; Huissoon, Aarnoud; Furnell, Abigail; Mead, Adam; Levine, Adam; Manzur, Adnan; Thrasher, Adrian; Greenhalgh, Alan; Parker, Alasdair; Sanchis-Juan, Alba; Richter, Alex; Gardham, Alice; Lawrie, Allan; Sohal, Aman; Creaser-Myers, Amanda; Frary, Amy; Greinacher, Andreas; Themistocleous, Andreas; Peacock, Andrew; Marshall, Andrew; Mumford, Andrew; Rice, Andrew; Webster, Andrew; Brady, Angie; Koziell, Ania; Manson, Ania; Chandra, Anita; Hensiek, Anke; Veld, Anna Huis In’t; Maw, Anna; Kelly, Anne; Moore, Anthony; Vonk Noordegraaf, Anton; Attwood, Antony; Herwadkar, Archana; Ghofrani, Ardi; Houweling, Arjan; Girerd, Barbara; Furie, Bruce; Treacy, Carmen; Millar, Carolyn; Sewell, Carrock; Roughley, Catherine; Titterton, Catherine; Williamson, Catherine; Hadinnapola, Charaka; Deshpande, Charu; Toh, Cheng-Hock; Bacchelli, Chiara; Patch, Chris; Geet, Chris Van; Babbs, Christian; Bryson, Christine; Penkett, Christopher; Rhodes, Christopher; Watt, Christopher; Bethune, Claire; Booth, Claire; Lentaigne, Claire; Mcjannet, Coleen; Church, Colin; French, Courtney; Samarghitean, Crina; Halmagyi, Csaba; Gale, Daniel; Greene, Daniel; Hart, Daniel; Allsup, David; Bennett, David; Edgar, David; Kiely, David; Gosal, David; Perry, David; Keeling, David; Montani, David; Shipley, Debbie; Whitehorn, Deborah; Fletcher, Debra; Krishnakumar, Deepa; Grozeva, Detelina; Kumararatne, Dinakantha; Thompson, Dorothy; Josifova, Dragana; Maher, Eamonn; Wong, Edwin; Murphy, Elaine; Dewhurst, Eleanor; Louka, Eleni; Rosser, Elisabeth; Chalmers, Elizabeth; Colby, Elizabeth; Drewe, Elizabeth; Mcdermott, Elizabeth; Thomas, Ellen; Staples, Emily; Clement, Emma; Matthews, Emma; Wakeling, Emma; Oksenhendler, Eric; Turro, Ernest; Reid, Evan; Wassmer, Evangeline; Raymond, F. Lucy; Hu, Fengyuan; Kennedy, Fiona; Soubrier, Florent; Flinter, Frances; Kovacs, Gabor; Polwarth, Gary; Ambegaonkar, Gautum; Arno, Gavin; Hudson, Gavin; Woods, Geoff; Coghlan, Gerry; Hayman, Grant; Arumugakani, Gururaj; Schotte, Gwen; Cook, H. Terry; Alachkar, Hana; Lango Allen, Hana; Lango-Allen, Hana; Stark, Hannah; Stauss, Hans; Schulze, Harald; Boggard, Harm; Baxendale, Helen; Dolling, Helen; Firth, Helen; Gall, Henning; Watson, Henry; Longhurst, Hilary; Markus, Hugh; Watkins, Hugh; Simeoni, Ilenia; Emmerson, Ingrid; Roberts, Irene; Quinti, Isabella; Wanjiku, Ivy; Gibbs, J. Simon R.; Thaventhiran, James; Whitworth, James; Hurst, Jane; Collins, Janine; Suntharalingam, Jay; Payne, Jeanette; Thachil, Jecko; Martin, Jennifer; Carmichael, Jenny; Maimaris, Jesmeen; Paterson, Joan; Pepke-Zaba, Joanna; Heemskerk, Johan; Gebhart, Johanna; Davis, John; Pasi, John; Bradley, John; Wharton, John; Stephens, Jonathan; Rankin, Julia; Anderson, Julie; Vogt, Julie; von Ziegenweldt, Julie; Rehnstrom, Karola; Megy, Karyn; Talks, Kate; Peerlinck, Kathelijne; Yates, Katherine; Freson, Kathleen; Stirrups, Kathleen; Gomez, Keith; Smith, Kenneth; Carss, Keren; Rue-Albrecht, Kevin; Gilmour, Kimberley; Masati, Larahmie; Scelsi, Laura; Southgate, Laura; Ranganathan, Lavanya; Ginsberg, Lionel; Devlin, Lisa; Willcocks, Lisa; Ormondroyd, Liz; Lorenzo, Lorena; Harper, Lorraine; Allen, Louise; Daugherty, Louise; Chitre, Manali; Kurian, Manju; Humbert, Marc; Tischkowitz, Marc; Bitner-Glindzicz, Maria; Erwood, Marie; Scully, Marie; Veltman, Marijke; Caulfield, Mark; Layton, Mark; Mccarthy, Mark; Ponsford, Mark; Toshner, Mark; Bleda, Marta; Wilkins, Martin; Mathias, Mary; Reilly, Mary; Afzal, Maryam; Brown, Matthew; Rondina, Matthew; Stubbs, Matthew; Haimel, Matthias; Lees, Melissa; Laffan, Michael; Browning, Michael; Gattens, Michael; Richards, Michael; Michaelides, Michel; Lambert, Michele; Makris, Mike; de Vries, Minka; Mahdi-Rogers, Mohamed; Saleem, Moin; Thomas, Moira; Holder, Muriel; Eyries, Mélanie; Clements-Brod, Naomi; Canham, Natalie; Dormand, Natalie; Zuydam, Natalie Van; Kingston, Nathalie; Ghali, Neeti; Cooper, Nichola; Morrell, Nicholas; Yeatman, Nigel; Roy, Noémi; Shamardina, Olga; Alavijeh, Omid; Gresele, Paolo; Nurden, Paquita; Chinnery, Patrick; Deegan, Patrick; Yong, Patrick; Yu-Wai-Man, Patrick; Corris, Paul; Calleja, Paul; Gissen, Paul; Bolton-Maggs, Paula; Rayner-Matthews, Paula; Ghataorhe, Pavandeep; Gordins, Pavel; Stein, Penelope; Collins, Peter; Dixon, Peter; Kelleher, Peter; Ancliff, Phil; Yu, Ping; Tait, R. Campbell; Linger, Rachel; Doffinger, Rainer; Machado, Rajiv; Kazmi, Rashid; Sargur, Ravishankar; Favier, Remi; Tan, Rhea; Liesner, Ri; Antrobus, Richard; Sandford, Richard; Scott, Richard; Trembath, Richard; Horvath, Rita; Hadden, Rob; Mackenzieross, Rob; Henderson, Robert; Maclaren, Robert; James, Roger; Ghurye, Rohit; Dacosta, Rosa; Hague, Rosie; Mapeta, Rutendo; Armstrong, Ruth; Noorani, Sadia; Murng, Sai; Santra, Saikat; Tuna, Salih; Johnson, Sally; Chong, Sam; Lear, Sara; Walker, Sara; Goddard, Sarah; Mangles, Sarah; Westbury, Sarah; Mehta, Sarju; Hackett, Scott; Nejentsev, Sergey; Moledina, Shahin; Bibi, Shahnaz; Meehan, Sharon; Othman, Shokri; Revel-Vilk, Shoshana; Holden, Simon; Mcgowan, Simon; Staines, Simon; Savic, Sinisa; Burns, Siobhan; Grigoriadou, Sofia; Papadia, Sofia; Ashford, Sofie; Schulman, Sol; Ali, Sonia; Park, Soo-Mi; Davies, Sophie; Stock, Sophie; Ali, Souad; Deevi, Sri; Gräf, Stefan; Ghio, Stefano; Wort, Stephen; Jolles, Stephen; Austin, Steve; Welch, Steve; Meacham, Stuart; Rankin, Stuart; Walker, Suellen; Seneviratne, Suranjith; Holder, Susan; Sivapalaratnam, Suthesh; Richardson, Sylvia; Kuijpers, Taco; Bariana, Tadbir; Bakchoul, Tamam; Everington, Tamara; Renton, Tara; Young, Tim; Aitman, Timothy; Warner, Timothy; Vale, Tom; Hammerton, Tracey; Pollock, Val; Matser, Vera; Cookson, Victoria; Clowes, Virginia; Qasim, Waseem; Wei, Wei; Erber, Wendy; Ouwehand, Willem; Astle, William; Egner, William; Turek, Wojciech; Henskens, Yvonne; Tan, Yvonne; Lynch, Andy
Academic Journal
Alvin Richards-Belle; Izabella Orzechowska; Doug W. Gould; Karen Thomas; James C. Doidge; Paul R. Mouncey; Michael D. Christian; Manu Shankar-Hari; David A. Harrison; Kathryn M. Rowan; Yemi Banjo; Kasia Borowczak; Tom Cousins; Peter Cummins; Keji Dalemo; Robert Darnell; Hanna Demissie; Laura Drikite; Andrew Fleming; Ditte Frederiksen; Sarah Furnell; Abdo Hussein; Abby Koelewyn; Tim Matthews; Sam Peters; Tyrone Samuels; Michelle Saull
Intensive Care Med
Academic Journal
Materials Research Innovations. 19:508-511
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