학술논문
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'학술논문'
에서 검색결과 169건 | 목록
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Academic Journal
Marine Ecology Progress Series, 2020 Mar 01. 637, 103-116.
Academic Journal
Pipe, Steven W; Lissitchkov, Toshko Jelev; Georgiev, Pencho; Mangles, Sarah; Hegemann, Inga; Trinchero, Alice; Chowdary, Pratima; Forbes, Adam; Feng, Liqi; Menapace, Laurel A; Kichou, Salim; Andersson, Shauna Rita; Demissie, Marek; Ragni, Margaret V
Blood Adv
Blood Advances, Vol 9, Iss 5, Pp 1147-1158 (2025)
Blood Advances, Vol 9, Iss 5, Pp 1147-1158 (2025)
Academic Journal
Benson Gary; Bhandari Trupti; Gomez Keith; Holder Kerry-Ann; Stephensen David; Wilkinson Alice; Mangles Sarah
The Journal of Haemophilia Practice, Vol 10, Iss 1, Pp 138-154 (2023)
Academic Journal
Latin American Journal of Aquatic Research, Vol 42, Iss 5, Pp 1148-1158 (2014)
Academic Journal
Sara Boyce; Simon Fletcher; April Jones; Ruchika Kohli; Sarah Mangles; Min Ong; Debra Pollard; Sujan Sivasubramaniyam; David Stephensen; Nicola Stoner; Rashid Kazmi
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-6 (2023)
Academic Journal
Boyce, Sara ; James, Izabela ; Rangarajan, Savita ; Curry, Nicola ; Bagot, Catherine ; Austin, Steven ; Laffan, Mike ; Mangles, Sarah ; Chandrakumaran, Kandiah ; Mundy, Carina
In Research and Practice in Thrombosis and Haemostasis April 2022 6(4)
Academic Journal
Reiss, Ulrike M.; Davidoff, Andrew M.; Tuddenham, Edward G. D.; Chowdary, Pratima; Mcintosh, Jenny; Muczynski, Vincent; Journou, Malo; Simini, Giulia; Ireland, Lydia; Mohamed, Saira; Riddell, Anne; Pie, Arnulfo J.; Hall, Andrew; Quaglia, Alberto; Mangles, Sarah; Mahlangu, Johnny; Haley, Kristina; Recht, Michael; Shen, Yu-Min; Halka, Kathleen G.; Fortner, Gail; Morton, Christopher L.; Gu, Zhengming; Hayden, Randall T.; Neufeld, Ellis J.; Okhomina, Victoria I.; Kang, Guolian; Nathwani, Amit C.
Academic Journal
St‐Louis, Jean ; Abad, Audrey ; Funk, Sharon ; Tilak, Merlyn ; Classey, Stephen ; Zourikian, Nichan ; McLaughlin, Paul ; Lobet, Sébastien ; Hernandez, Grace ; Akins, Stacie ; Wells, Anna J. ; Manco‐Johnson, Marilyn ; John, Judy ; Austin, Steve ; Chowdary, Pratima ; Hermans, Cedric ; Nugent, Diane ; Bakeer, Nihal ; Mangles, Sarah ; Hilliard, Pamela ; Blanchette, Victor S. ; Feldman, Brian M.
In Research and Practice in Thrombosis and Haemostasis February 2022 6(2)
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, Ines; Ferrer, Jorge; Lutz, Katie; Swietlik, Emilia M.; Ahmad, Ferhaan; Amouyel, Philippe; Archer, Stephen L.; Argula, Rahul; Austin, Eric D.; Badesch, David; Bakshi, Sahil; Barnett, Christopher; Benza, Raymond; Bhatt, Nitin; Bogaard, Harm J.; Burger, Charles D.; Chakinala, Murali; Church, Colin; Coghlan, John G.; Condliffe, Robin; Corris, Paul A.; Danesino, Cesare; Debette, Stephanie; Elliott, C. Gregory; Elwing, Jean; Eyries, Melanie; Fortin, Terry; Franke, Andre; Frantz, Robert P.; Frost, Adaani; Garcia, Joe G.N.; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Harley, John; 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; 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; 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; 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; Tregouet, David-Alexandre; Prokopenko, Inga; Kittles, Richard; Graf, Stefan; Nichols, William C.; Trembath, Richard C.; Desai, Ankit A.; Morrell, Nicholas W.; Wilkins, Martin R.; Adlard, Julian; Ahmed, Munaza; Aitman, Tim; Alachkar, Hana; Allsup, David; Almeida-King, Jeff; Ancliff, Philip; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Ashford, Sofie; Astle, William; Attwood, Anthony; Babbs, Chris; Bakchoul, Tamam; Bariana, Tadbir; Barwell, Julian; Bennett, David; Bentley, David; Bierzynska, Agnieszka; Biss, Tina; Bogaard, Harm; Bourne, Christian; Boyce, Sara; Bradley, John; Breen, Gerome; Brennan, Paul; Brewer, Carole; Brown, Matthew; Browning, Michael; Buchan, Rachel; Buckland, Matthew; Bueser, Teofila; Burns, Siobhan; Burren, Oliver; Calleja, Paul; Carr-White, Gerald; Carss, Keren; Casey, Ruth; Caulfield, Mark; Chambers, John; Chambers, Jennifer; Cheng, Floria; Chinnery, Patrick F.; Christian, Martin; Brod, Naomi Clements; Coghlan, Gerry; Colby, Elizabeth; Cole, Trevor; Collins, Janine; Collins, Peter; Colombo, Camilla; Cook, Stuart; Cook, Terry; Cooper, Nichola; Corris, Paul; Crisp-Hihn, Abigail; Curry, Nicola; Daniels, Matthew; Daugherty, Louise; Davis, John; Deevi, Sri V.V.; Dent, Timothy; Dewhurst, Eleanor; Dixon, Peter; Downes, Kate; Drazyk, Anna; Drewe, Elizabeth; Dutt, Tina; Edgar, David; Edwards, Karen; Egner, William; Erber, Wendy; Erwood, Marie; Estiu, Maria C.; Evans, Gillian; Evans, Dafydd Gareth; Everington, Tamara; Eyries, Mlanie; Favier, Remi; Fletcher, Debra; Fox, James; Frary, Amy; French, Courtney; Freson, Kathleen; Frontini, Mattia; Gale, Daniel; Geoghegan, Claire; Gerighty, Terry; Gibbs, Simon; Gilmour, Kimberley; Goddard, Sarah; Gomez, Keith; Gordins, Pavels; Gosal, David; Grassi, Luigi; Greene, Daniel; Greenhalgh, Lynn; Greinacher, Andreas; Gresele, Paolo; Griffiths, Philip; Grigoriadou, Sofia; Grocock, Russell; Grozeva, Detelina; Hackett, Scott; Hague, William; Hall, Matthew; Hanson, Helen; Harkness, Kirsty; Harper, Andrew; Harris, Claire; Hart, Daniel; Hassan, Ahamad; Hayman, Grant; Henderson, Alex; Hoffmann, Jonathan; Horvath, Rita; Houweling, Arjan; Howard, Luke; Hu, Fengyuan; Hudson, Gavin; Hughes, Joseph; Huissoon, Aarnoud; Humphray, Sean; Hunter, Sarah; Hurles, Matthew; Izatt, Louise; James, Roger; Johnson, Sally; Jolles, Stephen; Jolley, Jennifer; Jurkute, Neringa; Kasanicki, Mary; Kazkaz, Hanadi; Kazmi, Rashid; Kelleher, Peter; Kiely, David; Kingston, Nathalie; Klima, Robert; Kostadima, Myrto; Koziell, Ania; Kreuzhuber, Roman; Kuijpers, Taco; Kumar, Ajith; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael; Lalloo, Fiona; Lambert, Michele; Allen, Hana Lango; Layton, Mark; Lentaigne, Claire; Levine, Adam; Linger, Rachel; Longhurst, Hilary; Louka, Eleni; Ross, Robert MacKenzie; Madan, Bella; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Mapeta, Rutendo; Marchbank, Kevin; Marks, Stephen; Markus, Hugh S.; Marschall, Hanns-Ulrich; Marshall, Andrew; Martin, Jennifer; Mathias, Mary; Matthews, Emma; Maxwell, Heather; McAlinden, Paul; McCarthy, Mark; Meacham, Stuart; Mead, Adam; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn; Moore, Tony; Morrell, Nicholas; Mozere, Monika; Muir, Keith; Mumford, Andrew; O'Sullivan, Jennifer; Obaji, Samya; Okoli, Steven; Ong, Kai Ren; Ormondroyd, Elizabeth; Ouwehand, Willem; Papadia, Sofia; Park, Soo-Mi; Parry, David; Paterson, Joan; Peacock, Andrew; Peden, John; Peerlinck, Kathelijne; Penkett, Christopher; Petersen, Romina; Pyle, Angela; Rankin, Stuart; Rao, Anupama; Raymond, F. Lucy; Rayner-Matthews, Paula; Rees, Christine; Rendon, Augusto; Renton, Tara; Rice, Andrew; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Roughley, Catherine; Roy, Noemi; Sadeghi-Alavijeh, Omid; Saleem, Moin; Samani, Nilesh; Sanchis-Juan, Alba; Sargur, Ravishankar; Satchell, Simon; Savic, Sinisa; Schulman, Sol; Scully, Marie; Searle, Claire; Sewell, Carrock; Seyres, Denis; Shapiro, Susie; Sharmardina, Olga; Shtoyerman, Rakefet; Sibson, Keith; Side, Lucy; Simeoni, Ilenia; Simpson, Michael; Sivapalaratnam, Suthesh; Skytte, Anne-Bine; Smith, Katherine; Smith, Kenneth G.C.; Snape, Katie; Staines, Simon; Staples, Emily; Stark, Hannah; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Swietlik, Emilia; Tait, R. Campbell; Talks, Kate; Tan, Rhea; Thaventhiran, James; Themistocleous, Andreas; Thomas, Moira; Thomson, Kate; Thrasher, Adrian; Thys, Chantal; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Traylor, Matthew; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Vale, Tom; Van Geet, Chris; Van Zuydam, Natalie; Vazquez-Lopez, Marta; Von Ziegenweidt, Julie; Waisfisz, Quintin; Walker, Suellen; Ware, James; Watkins, Hugh; Watt, Christopher; Webster, Andrew; Wei, Wei; Welch, Steven; Wessels, Julie; Westbury, Sarah; Westwood, John-Paul; Whitehorn, Deborah; Whitworth, James; Williamson, Catherine; Wong, Edwin; Wood, Nicholas; Wood, Yvette; Woods, Geoff; Woodward, Emma; Wort, Stephen; Worth, Austen; Yates, Katherine; Yong, Patrick; Young, Tim; Yu, Ping; Yu-Wai-Man, Patrick; Theuer, Alison; Malur, Anagha; Williams, Ann; Dotson, Anne; Warden, Ashley; Harrington, Brandy; Vang, Brenda; Ziemak, Caitlin; Casanova, Nancy; Caskey, Elizabeth; MacDonald, Catherine; Rowley, Courtney; Larimore, Daniel; Brady, Daniela; Tomer, David; Davis, Anne; Broach, Debra; Devereux, Jane; Lovato, Ellen; Stratton, Eric; Turk, Erin; Jackson, Esperanza; Paciotti, Gina; Peichel, Gretchen; Birru, Hellina; del Junco, Holly; Ingledue, Rebecca; Bruno, Jackie; Drake, Jan; Marks, Jennifer; Pisarcik, Jessica; Spears, Jill; Santiago, Joseph; DeMartino, Jordyn; Beckmann, Joy; Palmer, Julia; Visnaw, Karen; Kennedy, Karla; Lewis, Karlise; Miller-Reed, Kathleen; Hannon, Kelly; McClain, Kimberly; Dillon, Laura; Olanipekun, Lekan; Mendibles, Lillian; Hawke, Lindsey; Brody, Linnea; Durst, Louise; Andrews, Mary; Allahua, Melissa; Stratoberdha, Melissa; Lemma, Merte; Cope, Molly; Franzo, Mya; Feliz, Natalia; Hawkes, Nicholas; Norwood, Tracy; Wilson, Opal; Palmisciano, Amy; Gruhlke, Peggy; Correa, Priscilla; Blake, Randy; Karnekar, Reema; Do, Robyn; Rohwer, Kristal; Ahmed, Sara; Schiltz, Kimberly; Scovel, Page; Cordell, Shannon; Heuerman, Sharon; Ahmad, Shazzra; Szuberla, Sylwia; Roads, Tammy; Iem, Thoeun; Mcgaha, Traci; Urban, Tracy; Aston, Valerie; Ayesh, Waleed; Light, Allison; Arkon, Abby; Tavlarides, Andrea; Anderson, Audrey; Bindu, John; Boekwig, Deedre; Singleton, Donna; Abrea, Inna; Lee, Jennifer; Ormiston, Mark; Whitman, Renesa; Holy, Royanne; Almeida-Peters, Sisama; Igenoza, Tosin; Farber, Hap; Reponen, Auvo; Barve, Mukta; Gygi, Amber; Winslow, Clayborne
Lancet Respir Med
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, 'Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238. https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0
2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', The Lancet Respiratory Medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0
UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium & Daniels, M J 2019, 'Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis', The Lancet Respiratory Medicine, vol. 7, no. 3, pp. 227-238. https://doi.org/10.1016/S2213-2600(18)30409-0
The Lancet Respiratory Medicine, vol 7, iss 3
The Lancet Respiratory Medicine
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, 'Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238. https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0
2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', The Lancet Respiratory Medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0
UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium & Daniels, M J 2019, 'Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis', The Lancet Respiratory Medicine, vol. 7, no. 3, pp. 227-238. https://doi.org/10.1016/S2213-2600(18)30409-0
The Lancet Respiratory Medicine, vol 7, iss 3
The Lancet Respiratory Medicine
Academic Journal
Cole, Jason M.; Symes, Daniel R.; Lopes, Nelson C.; Wood, Jonathan C.; Poder, Kristjan; Alatabi, Saleh; Botchway, Stanley W.; Foster, Peta S.; Gratton, Sarah; Johnson, Sara; Kamperidis, Christos; Kononenko, Olena; De Lazzari, Michael; Palmer, Charlotte A. J.; Rusby, Dean; Sanderson, Jeremy; Sandholzer, Michael; Sarri, Gianluca; Szoke-Kovacs, Zsombor; Teboul, Lydia; Thompson, James M.; Warwick, Jonathan R.; Westerberg, Henrik; Hill, Mark A.; Norris, Dominic P.; Mangles, Stuart P. D.; Najmudin, Zulfikar
Proceedings of the National Academy of Sciences of the United States of America, 2018 Jun . 115(25), 6335-6340.
Academic Journal
Hermans, Cedric; Marino, Renato; Lambert, Catherine; Mangles, Sarah; Sommerer, Patrick; Rives, Vincent; Maro, Geraldine; Malcangi, Giuseppe
Adv Ther
Advances in therapy, Vol. 37, no.6, p. 2988-2998 (2020)
Advances in therapy, Vol. 37, no.6, p. 2988-2998 (2020)
Academic Journal
Bury, Loredana; Megy, Karyn; Stephens, Jonathan C.; Grassi, Luigi; Greene, Daniel; Gleadall, Nick; Althaus, Karina; Allsup, David; Bariana, Tadbir K.; Bonduel, Mariana; Butta, Nora V.; Collins, Peter; Curry, Nicola; Deevi, Sri V. V.; Downes, Kate; Duarte, Daniel; Elliott, Kim; Falcinelli, Emanuela; Furie, Bruce; Keeling, David; Lambert, Michele P.; Linger, Rachel; Mangles, Sarah; Mapeta, Rutendo; Millar, Carolyn M.; Penkett, Christopher; Perry, David J.; Stirrups, Kathleen E.; Turro, Ernest; Westbury, Sarah K.; Wu, John; Bioresource, Nihr; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H.; Gresele, Paolo; Simeoni, Ilenia; Williamson, Catherine; Dixon, Peter
Hum Mutat
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T, Bonduel, M, Butta, N, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R,Mangles , S, Mapeta, R, Millar, C M, Penkett, C J, Perry, D J, Stirrups, K, Turro, E, Westbury, S K, Wu, J, Gomez, K, Freson, K, Ouwehand, W H & Gresele, P & Simeoni, I 2019, 'Next-generation sequencing for the diagnosis of MYH9-RD : predicting pathogenic variants', Human Mutation. https://doi.org/10.1002/humu.23927
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T K, Bonduel, M, Butta, N V, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R,Mangles , S, Mapeta, R, Millar, C M, Penkett, C, Perry, D J, Stirrups, K E, Turro, E, Westbury, S K, Wu, J, Bioresource, N, Gomez, K, Freson, K, Ouwehand, W H, Gresele, P, Simeoni, I, Williamson, C & Dixon, P 2020, ' Next-generation sequencing for the diagnosis of MYH9 -RD: Predicting pathogenic variants ', Human Mutation, vol. 41, no. 1, pp. 277-290 . https://doi.org/10.1002/humu.23927
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T, Bonduel, M, Butta, N, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R,
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T K, Bonduel, M, Butta, N V, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R,
Academic Journal
In Journal of Thrombosis and Haemostasis September 2020 18 Supplement 1:26-33
Academic Journal
Sophia Stanford; Ashok Roy; Catherine Rea; Ben Harris; Antony Ashton; Sarah Mangles; Tamara Everington; Rayan Taher; Daniel Burns; Emily Arbuthnot; Tom Cecil
PLoS ONE, Vol 18, Iss 1 (2023)
Academic Journal
Lentaigne, Claire; Greene, Daniel; Sivapalaratnam, Suthesh; Favier, Remi; Seyres, Denis; Thys, Chantal; Grassi, Luigi; Mangles, Sarah; Sibson, Keith; Stubbs, Matthew; Burden, Frances; Bordet, Jean-Claude; Armari-Alla, Corinne; Erber, Wendy; Farrow, Samantha; Gleadall, Nicholas; Gomez, Keith; Megy, Karyn; Papadia, Sofia; Penkett, Christopher J; Sims, Matthew C; Stefanucci, Luca; Stephens, Jonathan C; Read, Randy J; Stirrups, Kathleen E; Ouwehand, Willem H; Laffan, Michael A; NIHR BioResource; Frontini, Mattia; Freson, Kathleen; Turro, Ernest
Blood. 134:2070-2081
Academic Journal
Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; 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; Bitner-Glindzicz, Maria; 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; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cookson, Victoria; Cooper, Nichola; Corris, Paul; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V.V.; Deshpande, Charu; Devlin, Lisa; Dewhurst, Eleanor; Dixon, Peter; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; 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; Graf, Stefan; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Grozeva, Detelina; 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; Huis in’t Veld, Anna; Huissoon, Aarnoud; Humbert, Marc; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kuijpers, Taco; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lango-Allen, Hana; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Louka, Eleni; Machado, Rajiv; Ross, Rob Mackenzie; 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; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Othman, Shokri; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo-Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rayner-Matthews, Paula; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Rosser, Elisabeth; Roughley, Catherine; Roy, Noémi; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schotte, Gwen; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth G.C.; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stark, Hannah; Stauss, Hans; Stein, Penelope; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; 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; Vonk Noordegraaf, Anton; Wakeling, Emma; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Watt, Christopher; Webster, ndrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Woods, Geoff; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Whitworth, James ; Smith, Philip S. ; Martin, Jose-Ezequiel ; West, Hannah ; Luchetti, Andrea ; Rodger, Faye ; Clark, Graeme ; Penkett, Chris ; Shakeel, Hassan ; Ahmed, Munaza ; Adlard, Julian ; Barwell, Julian ; Brewer, Carole ; Casey, Ruth T. ; Cole, Trevor ; Evans, Dafydd Gareth ; Fostira, Florentia ; Greenhalgh, Lynn ; Hanson, Helen ; Henderson, Alex ; Hoffman, Jonathan ; Izatt, Louise ; Kumar, Ajith ; Kwong, Ava ; Lalloo, Fiona ; Ong, Kai Ren ; Chen-Shtoyerman, Rakefet ; Searle, Claire ; Side, Lucy ; Skytte, Anne-Bine ; Snape, Katie ; Woodward, Emma R. ; Tischkowitz, Marc D. ; Maher, Eamonn R.
In The American Journal of Human Genetics 5 July 2018 103(1):3-18
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
Academic Journal
Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; 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; Bitner-Glindzicz, Maria; 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; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; 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; Dewhurst, Eleanor; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; 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; Grozeva, Detelina; 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; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; 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; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo-Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; 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; Rosser, Elisabeth; Roughley, Catherine; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; 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; Stephens, Jonathan; Stirrups, Kathleen; 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; Vonk Noordegraaf, Anton; Wakeling, Emma; 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; Carss, Keren J. ; Hull, Sarah ; Malka, Samantha ; Plagnol, Vincent ; Penkett, Christopher ; Rizzo, Roberta ; Wright, Genevieve ; Scott, Richard H. ; Brady, Angela F. ; Henderson, Robert H.H. ; MacLaren, Robert E. ; Thompson, Dorothy A. ; Moore, Anthony T. ; Webster, Andrew R. ; Raymond, F. Lucy
In The American Journal of Human Genetics 5 January 2017 100(1):75-90
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
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