학술논문
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'학술논문'
에서 검색결과 540건 | 목록
1~20
Academic Journal
Thomson, K; Ormondroyd, E; Harper, A; Dent, T; McGuire, K; Baksi, J; Blair, E; Brennan, P; Buchan, R; Bueser, T; Campbell, C; Carr-White, G; Cook, S; Daniels, M; Deevi, S; Goodship, J; Hayesmoore, J; Henderson, A; Lamb, T; Prasad, S; Rayner-Matthews, P; Robert, L; Sneddon, L; Stark, H; Walsh, R; Ware, J; Farrall, M; Watkins, H; Consortium, Nihr Bioresource – Rare Diseases
Genet Med
NIHR BioResource Rare Diseases Consortium 2019, 'Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 21, no. 7, pp. 1576-1584. https://doi.org/10.1038/s41436-018-0375-z
Academic Journal
Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J; Hull, Sarah; Lane, Amelia; Robson, Anthony G; Wenger, Olivia; Self, Jay E; Harlalka, Gaurav V; Salter, Claire G; Schema, Lynn; Moss, Timothy J; Cheetham, Michael E; Moore, Anthony T; Raymond, F Lucy; Chen, Rui; Baple, Emma L; Webster, Andrew R; Crosby, Andrew H; Consortium, NIHR Bioresource Rare Diseases
Am J Med Genet A
Fasham, J, Arno, G, Lin, S, Xu, M, Carss, K J, Hull, S, Lane, A, Robson, A G, Wenger, O, Self, J E, Harlalka, G V, Salter, C G, Schema, L, Moss, T J, Cheetham, M E, Moore, A T, Raymond, F L, Chen, R, Baple, E L, Webster, A R & Crosby, A H 2019, ' Delineating the expanding phenotype associated with SCAPER gene mutation ', American Journal of Medical Genetics Part A, vol. 179, no. 8, pp. 1665-1671 . https://doi.org/10.1002/ajmg.a.61202
American Journal of Medical Genetics Part A, vol 179, iss 8
Fasham, J, Arno, G, Lin, S, Xu, M, Carss, K J, Hull, S, Lane, A, Robson, A G, Wenger, O, Self, J E, Harlalka, G V, Salter, C G, Schema, L, Moss, T J, Cheetham, M E, Moore, A T, Raymond, F L, Chen, R, Baple, E L, Webster, A R & Crosby, A H 2019, ' Delineating the expanding phenotype associated with SCAPER gene mutation ', American Journal of Medical Genetics Part A, vol. 179, no. 8, pp. 1665-1671 . https://doi.org/10.1002/ajmg.a.61202
American Journal of Medical Genetics Part A, vol 179, iss 8
Academic Journal
Westbury, Sarah K; Downes, Kate; Burney, Claire; Lozano, Maria L; Obaji, Samya G; Toh, Cheng Hock; Sevivas, Teresa; Morgan, Neil V; Erber, Wendy N; Kempster, Carly; Moore, Samantha F; Thys, Chantal; Papadia, Sofia; Ouwehand, Willem H; NIHR BioResource–Rare Diseases; Laffan, Michael A; Gomez, Keith; Freson, Kathleen; Rivera, Jose; Mumford, Andrew D
2018, 'Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder', Blood Advances, vol. 2, no. 18, pp. 2341-2346. https://doi.org/10.1182/bloodadvances.2018020370
Academic Journal
Westbury, Sarah K; Canault, Matthias; Greene, Daniel; Bermejo, Emilse; Hanlon, Katharine; Lambert, Michele P; Millar, Carolyn M; Nurden, Paquita; Obaji, Samya G; Revel-Vilk, Shoshana; Van Geet, Chris; Downes, Kate; Papadia, Sofia; Tuna, Salih; Watt, Christopher; NIHR BioResource–Rare Diseases Consortium; Freson, Kathleen; Laffan, Michael A; Ouwehand, Willem H; Alessi, Marie-Christine; Turro, Ernest; Mumford, Andrew D
Westbury, S K, Canault, M, Greene, D, Bermejo, E, Hanlon, K, Lambert, M P, Millar, C M, Nurden, P, Obaji, S G, Revel-Vilk, S, Van Geet, C, Downes, K, Papadia, S, Tuna, S, Watt, C, Consortium, N B-R D, Freson, K, Laffan, M A, Ouwehand, W H, Alessi, M-C, Turro, E & Mumford, A D 2017, 'Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding', Blood, vol. 130, no. 8. https://doi.org/10.1182/blood-2017-03-776773
Academic Journal
Carss, Keren J; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis-Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner-Glindzicz, Maria; Scott, Richard H; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F; Carmichael, Jenny; Chitre, Manali; Henderson, Robert HH; Hurst, Jane; MacLaren, Robert E; Murphy, Elaine; Paterson, Joan; Rosser, Elisabeth; Thompson, Dorothy A; Wakeling, Emma; Ouwehand, Willem H; Michaelides, Michel; Moore, Anthony T; Consortium, NIHR-BioResource Rare Diseases; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Church, Colin; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri VV; Deshpande, Charu; Devlin, Lisa; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David
American Journal of Human Genetics, vol 100, iss 1
Academic Journal
Na Zhu; Emilia M. Swietlik; Carrie L. Welch; Michael W. Pauciulo; Jacob J. Hagen; Xueya Zhou; Yicheng Guo; Johannes Karten; Divya Pandya; Tobias Tilly; Katie A. Lutz; Jennifer M. Martin; Carmen M. Treacy; Erika B. Rosenzweig; Usha Krishnan; Anna W. Coleman; Claudia Gonzaga-Juaregui; Allan Lawrie; Richard C. Trembath; Martin R. Wilkins; Regeneron Genetics Center; PAH Biobank Enrolling Centers’ Investigators; NIHR BioResource for Translational Research - Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; Nicholas W. Morrell; Yufeng Shen; Stefan Gräf; William C. Nichols; Wendy K. Chung
Genome Medicine, Vol 13, Iss 1, Pp 1-18 (2021)
Academic Journal
Rhodes, CJ; Batai, K; Bleda, M; Haimel, M; Southgate, L; Germain, M; Pauciulo, MW; Hadinnapola, C; Aman, J; Girerd, B; Arora, A; Robbins, I; Roden, DM; Rosenzweig, EB; Saydain, G; Scelsi, L; Schilz, R; Seeger, W; Shaffer, CM; Simms, RW; Simon, M; Walter, RE; Sitbon, O; Suntharalingam, J; Tang, H; Tchourbanov, AY; Thenappan, T; Torres, F; Toshner, MR; Treacy, CM; Noordegraaf, AV; Waisfisz, Q; Wharton, J; Walsworth, AK; White, RJ; Wilt, J; Wort, SJ; Yung, D; Lawrie, A; Humbert, M; Soubrier, F; Trégouët, D-A; Knight, J; Prokopenko, I; Kittles, R; Gräf, S; Nichols, WC; Trembath, RC; Desai, AA; Morrell, NW; Wilkins, MR; UK NIHR BioResource Rare Diseases Consortium; UK PAH Cohort Study Consortium; Hanscombe, KB; US PAH Biobank Consortium; Karnes, JH; Kaakinen, M; Gall, H; Ulrich, A; Harbaum, L; Cebola, I; Ferrer, J; Lutz, K; Swietlik, EM; Ahmad, F; Amouyel, P; Archer, SL; Argula, R; Austin, ED; Badesch, D; Bakshi, S; Barnett, C; Benza, R; Bhatt, N; Bogaard, HJ; Burger, CD; Chakinala, M; Church, C; Coghlan, JG; Condliffe, R; Corris, PA; Danesino, C; Debette, S; Elliott, CG; Elwing, J; Eyries, M; Fortin, T; Franke, A; Frantz, RP; Frost, A; Garcia, JGN; Ghio, S; Ghofrani, H-A; Gibbs, JSR; Harley, J; He, H; Hill, NS; Hirsch, R; Houweling, AC; Howard, LS; Ivy, D; Kiely, DG; Klinger, J; Kovacs, G; Lahm, T; Laudes, M; Machado, RD; Ross, RVM; Marsolo, K; Martin, LJ; Moledina, S; Montani, D; Nathan, SD; Newnham, M; Olschewski, A; Olschewski, H; Oudiz, RJ; Ouwehand, WH; Peacock, AJ; Pepke-Zaba, J; Rehman, Z
Academic Journal
Carss, Keren J.; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner Glindzicz, Maria; Scott, Richard H.; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F.; Carmichael, Jenny; Chitre, Manali; Henderson, Robert H. H.; Hurst, Jane; Maclaren, Robert E.; Murphy, Elaine; Paterson, Joan; Rosser, Elisabeth; Thompson, Dorothy A.; Wakeling, Emma; Ouwehand, Willem H.; Michaelides, Michel; Moore, Anthony T.; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bleda, Marta; Boggard, Harm; Bolton Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Church, Colin; Clements Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser Myers, Amanda; Dacosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V. V.; Deshpande, Charu; Devlin, Lisa; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Fox, James C.; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W. M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huissoon, Aarnoud; Humbert, Marc; James, Roger; Jolles, Stephen; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Machado, Rajiv; Mackenzie, Rob; Maclaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; Mcdermott, Elizabeth; Mcjannet, Coleen; Meacham, Stuart; Meehan, Sharon; Mehta, Sarju; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Papadia, Sofia; Park, Soo Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke Zaba, Joanna; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; QUINTI, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Roughley, Catherine; Rue Albrecht, Kevin; Samarghitean, Crina; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stauss, Hans; Stein, Penelope; Stock, Sophie; Suntharalingam, Jay; Tait, R. Campbell; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; Vogt, Julie; von Ziegenweldt, Julie; Noordegraaf, Anton Vonk; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Webster, Andrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Webster, Andrew R.
Carss, K J, Arno, G, Erwood, M, Stephens, J, Sanchis-Juan, A, Hull, S, Megy, K, Grozeva, D, Dewhurst, E, Malka, S, Plagnol, V, Penkett, C, Stirrups, K, Rizzo, R, Wright, G, Josifova, D, Bitner-Glindzicz, M, Scott, R H, Clement, E, Allen, L, Armstrong, R, Brady, A F, Carmichael, J, Chitre, M, Henderson, R H H, Hurst, J, MacLaren, R E, Murphy, E, Paterson, J, Rosser, E, Thompson, D A, Wakeling, E, Ouwehand, W H, Michaelides, M, Moore, A T, Webster, A R, Raymond, F L & Westbury, S 2017, 'Comprehensive
Academic Journal
Prapa, Matina; Lago-Docampo, Mauro; Swietlik, Emilia M; Montani, David; Eyries, Mélanie; Humbert, Marc; Welch, Carrie L; Chung, Wendy K; Berger, Rolf MF; Bogaard, Harm Jan; Danhaive, Olivier; Escribano-Subías, Pilar; Gall, Henning; Girerd, Barbara; Hernandez-Gonzalez, Ignacio; Holden, Simon; Hunt, David; Jansen, Samara MA; Kerstjens-Frederikse, Wilhelmina; Kiely, David G; Lapunzina, Pablo; McDermott, John; Moledina, Shahin; Pepke-Zaba, Joanna; Polwarth, Gary J; Schotte, Gwen; Tenorio-Castaño, Jair; Thompson, AA Roger; Wharton, John; Wort, Stephen J; Megy, Karyn; Mapeta, Rutendo; Treacy, Carmen M; Martin, Jennifer M; Li, Wei; Swift, Andrew J; Upton, Paul D; Morrell, Nicholas W; Gräf, Stefan; Valverde, Diana; NIHR BioResource For Translational Research–Rare Diseases; National Cohort Study Of Idiopathic And Heritable PAH; PAH Biobank Enrolling Centers’ Investigators
Am J Respir Crit Care Med
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
NIHR BioResource for Translational Research-Rare Diseases32, National Cohort Study of Idiopathic and Heritable PAH33 & PAH Biobank Enrolling Centers' Investigators33 2022, 'First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease', American Journal of Respiratory and Critical Care Medicine, vol. 206, no. 12, pp. 1522-1533. https://doi.org/10.1164/rccm.202203-0485OC
American journal of respiratory and critical care medicine, Vol. 206, no.12, p. 1522-1533 (2022)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American journal of respiratory and critical care medicine, Vol. 206, no.12, p. 1522-1533 (2022)
Academic Journal
Rhodes, Christopher J; Otero-Núñez, Pablo; Wharton, John; Swietlik, Emilia M; Kariotis, Sokratis; Harbaum, Lars; Dunning, Mark J; Elinoff, Jason M; Errington, Niamh; Thomson, AA Roger; Iremonger, James; Coghlan, J Gerry; Corris, Paul A; Howard, Luke S; Kiely, David G; Church, Colin; Pepke-Zaba, Joanna; Toshner, Mark; Wort, Stephen J; Desai, Ankit A; Humbert, Marc; Nichols, William C; Southgate, Laura; Trégouët, David-Alexandre; Trembath, Richard C; Prokopenko, Inga; Gräf, Stefan; Morrell, Nicholas W; Wang, Dennis; Lawrie, Allan; Wilkins, Martin R; NIHR BioResource – Rare Diseases PAH Consortium And The UK National PAH Cohort Study Consortium
Am J Respir Crit Care Med
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
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 &
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
American Journal of Human Genetics
Academic Journal
Lawless, Dylan; Lango Allen, Hana; Thaventhiran, James; NIHR BioResource–Rare Diseases Consortium; Hodel, Flavia; Anwar, Rashida; Fellay, Jacques; Walter, Jolan E; Savic, Sinisa
J Clin Immunol
Journal of clinical immunology, vol. 39, no. 7, pp. 688-701
Journal of clinical immunology, vol. 39, no. 7, pp. 688-701
Academic Journal
Rhodes, Christopher J; Batai, Ken; Bleda, Marta; Haimel, Matthias; Southgate, Laura; Germain, Marine; Pauciulo, Michael W; Hadinnapola, Charaka; Aman, Jurjan; Girerd, Barbara; Arora, Amit; Knight, Jo; Hanscombe, Ken B; Karnes, Jason H; Kaakinen, Marika; Gall, Henning; Ulrich, Anna; Harbaum, Lars; Cebola, Inês; Ferrer, Jorge; Consortium, The NIHR BioResource–Rare Diseases Consortium UK PAH Cohort Study Consortium and the US PAH Biobank; Ahmad, Ferhaan; Amouyel, Philippe; L., Archer Stephen; Argula, Rahul; D., Austin Eric; Badesch, David; Bakshi, Sahil; Barnett, Christopher F; Benza, Raymond; Bhatt, Nitin; Bogaard, Harm J; Burger, Charles D; Chakinala, Murali M; Church, Colin; Coghlan, John G; Condliffe, Robin; Corris, Paul A; Danesino, Cesare; Debette, Stéphanie; Elliott, C Gregory; Elwing, Jean; Eyries, Melanie; Fortin, Terry; Franke, Andre; Frantz, Robert P; Frost, Adaani; Garcia, Joe GN; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Simon, J; Gibbs, R; Harley, John B; He, Hua; Hill, Nicholas S; Hirsch, Russel; Houweling, Arjan C; Howard, Luke S; Ivy, Dunbar; Kiely, David G; Klinger, James; Kovacs, Gabor; Lahm, Tim; Laudes, Matthias; Lutz, Katie; Machado, Rajiv D; Ross, Robert V MacKenzie; Marsolo, Keith; Martin, Lisa J; Moledina, Shahin; Montani, David; Nathan, Steven D; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Oudiz, Ronald J; Ouwehand, Willem H; Peacock, Andrew J; Pepke-Zaba, Joanna; Rehman, Zia; Robbins, Ivan M; Roden, Dan M; Rosenzweig, Erika B; Saydain, Ghulam; Scelsi, Laura; Schilz, Robert; Seeger, Werner; Shaffer, Christian M; Simms, Robert W; Simon, Marc; Sitbon, Olivier; Suntharalingam, Jay; Swietlik, Emilia; Tang, Haiyang; Tchourbanov, Alexander Y; Thenappan, Thenappan; Torres, Fernando; Toshner, Mark R; Treacy, Carmen M; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Walsworth, Anna K; Walter, Robert E; Wharton, John; White, R James; Wilt, Jeffrey; Wort, Stephen J; Yung, Delphine; Lawrie, Allan; Humbert, Marc; Soubrier, Florent; Trégouët, David-Alexandre; Prokopenko, Inga; Kittles, Richard; Gräf, Stefan; Nichols, William C; Trembath, Richard C; Desai, Ankit A; Morrell, Nicholas W; Wilkins, Martin R
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; Smith, Kenneth; Thrasher, Adrian; Watkins, Hugh; Williamson, Catherine; Woods, Geoffrey; Ashford, Sofie; Bradley, John R; Fletcher, Debra; Hammerton, Tracey; James, Roger; Kingston, Nathalie; Penkett, Christopher J; Stirrups, Kathleen; Veltman, Marijke; Young, Tim; Brown, Matthew; Clements-Brod, Naomi; Davis, John; Dewhurst, Eleanor; Erwood, Marie; Frary, Amy; Linger, Rachel; Papadia, Sofia; Rehnstrom, Karola; Stark, Hannah; Allsup, David; Austin, Steve; Bakchoul, Tamam; Bariana, Tadbir K; Bolton-Maggs, Paula; Chalmers, Elizabeth; Collins, Peter; Erber, Wendy N; Everington, Tamara; Favier, Remi; Freson, Kathleen; Furie, Bruce; Gattens, Michael; Gomez, Keith; Greene, Daniel; Greinacher, Andreas; Hart, Daniel; Heemskerk, Johan WM; Henskens, Yvonne; Kazmi, Rashid; Keeling, David; Kelly, Anne M; Lambert, Michele P; Lentaigne, Claire; Liesner, Ri; Mangles, Sarah; Mathias, Mary; Millar, Carolyn M; Mumford, Andrew; Nurden, Paquita; Payne, Jeanette; Pasi, John; Perry, David J; Peerlinck, Kathelijne; Richards, Michael; Rondina, Matthew; Roughley, Catherine; Schulman, Sol; Schulze, Harald; Scully, Marie; Sivapalaratnam, Suthesh; Tait, R Campbell; Talks, Kate; Thachil, Jecko; Turro, Ernest; Toh, Cheng-Hock; Van Geet, Chris; De Vries, Minka; Warner, Timothy Q; Westbury, Sarah; Furnell, Abigail; Mapeta, Rutendo; Simeoni, Ilenia; Staines, Simon; Stephens, Jonathan; Whitehorn, Deborah; Watt, Christopher; Attwood, Antony; Daugherty, Louise; Deevi, Sri; Halmagyi, Csaba; Hu, Fengyuan; Matser, Vera; Meacham, Stuart; Megy, Karyn; Titterton, Catherine; Tuna, Salih; Yu, Ping; Von Ziegenweldt, Julie; Astle, William; Carss, Keren; Lango-Allen, Hana; Richardson, Sylvia; Calleja, Paul; Rankin, Stuart; Turek, Wojciech; Bryson, Christine; Anderson, Julie; McJannet, Coleen; Stock, Sophie; Wassmer, Evangeline; Sohal, Aman; Santra, Saikat; Vogt, Julie; Chitre, Manali; Krishnakumar, Deepa; Ambegaonkar, Gautum; Maw, Anna; Armstrong, Ruth; Park, Soo-Mi; Mehta, Sarju; Paterson, Joan; Carmichael, Jenny; Allen, Louise; Hensiek, Anke; Firth, Helen; Stein, Penelope; Deegan, Patrick; Doffinger, Rainer; Parker, Alasdair; Bitner-Glindzicz, Maria; Scott, Richard; Hurst, Jane; Rosser, Elisabeth; Lees, Melissa; Clement, Emma; Henderson, Robert; Thompson, Dorothy; Gardham, Alice; Gissen, Paul; Josifova, Dragana; Thomas, Ellen; Patch, Chris; Deshpande, Charu; Flinter, Frances; Holder, Muriel; Canham, Natalie; Wakeling, Emma; Holder, Susan; Ghali, Neeti; Brady, Angie; Clowes, Virginia; MacLaren, Robert; Webster, Andrew; Moore, Anthony; Arno, Gavin; Michaelides, Michel; Rankin, Julia; Kurian, Manju; Murphy, Elaine; Sanchis-Juan, Alba; Grozeva, Detelina; Reid, Evan; Woods, Geoff; Tischkowitz, Marc; Sandford, Richard; Ali, Sonia; Creaser-Myers, Amanda; Cookson, Victoria; DaCosta, Rosa; Dormand, Natalie; Ghataorhe, Pavandeep K; Greenhalgh, Alan; Huis In’t Veld, Anna; Kennedy, Fiona; Mackenzie Ross, Rob; Masati, Larahmie; Meehan, Sharon; Othman, Shokri; Pollock, Val; Polwarth, Gary; Rhodes, Christopher J; Rue-Albrecht, Kevin; Schotte, Gwen; Shipley, Debbie; Tan, Yvonne; Wanjiku, Ivy; Wort, John; Kuijpers, Taco; Thaventhiran, James; Lango Allen, Hana; Staples, Emily; Samarghitean, Crina; 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; 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; Sargur, Ravishankar; Savic, Sinisa; Seneviratne, Suranjith; Sewell, Carrock; Stauss, Hans; Thomas, Moira; Welch, Steve; Willcocks, Lisa; Yeatman, Nigel; Yong, Patrick
Hadinnapola, C, Bleda, M, Haimel, M, Screaton, N, Swift, A, Dorfmüller, P, Preston, S D, Southwood, M, Hernandez-Sanchez, J, Martin, J, Treacy, C, Yates, K, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P A, Gibbs, S, Girerd, B, Holden, S, Humbert, M, Kiely, D G, Lawrie, A, Machado, R, MacKenzie Ross, R, Moledina, S, Montani, D, Newnham, M, Peacock, A, Pepke-Zaba, J, Rayner-Matthews, P, Shamardina, O, Soubrier, F, Southgate, L, Suntharalingam, J, Toshner, M, Trembath, R, Noordegraaf, A V, Wilkins, M R, Wort, S J, Wharton, J, Gräf, S, Morrell, N W & NIHR BioResource –Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH 2017, 'Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension', Circulation, vol. 136, no. 21, pp. 2022-2033. https://doi.org/10.1161/CIRCULATIONAHA.117.028351
Hadinnapola, C, Bleda, M, Haimel, M, Screaton, N, Swift, A, Dorfmüller, P, Preston, S D, Southwood, M, Hernandez-Sanchez, J, Martin, J, Treacy, C, Yates, K, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P A, Gibbs, S, Girerd, B, Holden, S, Humbert, M, Kiely, D G, Lawrie, A, Machado, R, MacKenzie Ross, R, Moledina, S, Montani, D, Newnham, M, Peacock, A, Pepke-Zaba, J, Rayner-Matthews, P, Shamardina, O, Soubrier, F, Southgate, L, Suntharalingam, J, Toshner, M, Trembath, R, Noordegraaf, A V, Wilkins, M R, Wort, S J, Wharton, J, Gräf, S, Morrell, N W 2017, ' Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension ', Circulation, vol. 136, no. 21, pp. 2022-2033 . https://doi.org/10.1161/CIRCULATIONAHA.117.028351
Hadinnapola, C, Bleda, M, Haimel, M, Screaton, N, Swift, A, Dorfmüller, P, Preston, S D, Southwood, M, Hernandez-Sanchez, J, Martin, J, Treacy, C, Yates, K, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P A, Gibbs, S, Girerd, B, Holden, S, Humbert, M, Kiely, D G, Lawrie, A, Machado, R, MacKenzie Ross, R, Moledina, S, Montani, D, Newnham, M, Peacock, A, Pepke-Zaba, J, Rayner-Matthews, P, Shamardina, O, Soubrier, F, Southgate, L, Suntharalingam, J, Toshner, M, Trembath, R, Noordegraaf, A V, Wilkins, M R, Wort, S J, Wharton, J, Gräf, S, Morrell, N W 2017, ' Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension ', Circulation, vol. 136, no. 21, pp. 2022-2033 . https://doi.org/10.1161/CIRCULATIONAHA.117.028351
Academic Journal
Lawless, Dylan; Allen, Hana Lango; Thaventhiran, James E. D.; Goddard, Sarah; Burren, Oliver S.; Robson, Evie; NIHR BioResource Rare Dis Consortium, N. I. H. R. BioResource Rare Dis Consortium; Peckham, Daniel; Smith, Kenneth G. C.; Savic, Sinisa
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
Machado, Rajiv D.; Welch, Carrie L.; Haimel, Matthias; Bleda, Marta; Colglazier, Elizabeth; Coulson, John D.; Debeljak, Marusa; Ekstein, Josef; Fineman, Jeffrey R.; Golden, William Christopher; Griffin, Emily Leann; Hadinnapola, Charaka; Harris, Michael A.; Hirsch, Yoel; Hoover-Fong, Julie Elizabeth; Nogee, Lawrence; Romer, Lewis H.; Vesel, Samo; Gräf, Stefan; Morrell, Nicholas W.; Southgate, Laura; Chung, Wendy K.; NIHR Bioresource – Rare Diseases
Academic Journal
NIHR BioResource-Rare Diseases; 1001000 Genomes Project-Rare Diseases Pilot; Wei, Wei; Tuna, Salih; Keogh, Michael J.; Smith, Katherine R.; Aitman, Timothy J.; Beales, Phil L.; Bennett, David L.; Gale, Daniel P.; Bitner-Glindzicz, Maria A. K.; Black, Graeme C.; Brennan, Paul; Elliott, Perry; Flinter, Frances A.; Floto, R. Andres; Houlden, Henry; Irving, Melita; Koziell, Ania; Maher, Eamonn R.; Markus, Hugh S.; Morrell, Nicholas W.; Newman, William G.; Roberts, Irene; Sayer, John A.; Smith, Kenneth G. C.; Taylor, Jenny C.; Watkins, Hugh; Webster, Andrew R.; Wilkie, Andrew O. M.; Williamson, Catherine; Ashford, Sofie; Penkett, Christopher J.; Stirrups, Kathleen E.; Rendon, Augusto; Ouwehand, Willem H.; Bradley, John R.; Raymond, F. Lucy; Caulfield, Mark; Turro, Ernest; Chinnery, Patrick F.
Science, 2019 May . 364(6442), 749-749.
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