Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

Author: Hadinnapola, Charaka MA, MB, BChir; Bleda, Marta PhD; Haimel, Matthias BSc; Screaton, Nicholas BM, BCh, FRCR, FRCP; Swift, Andrew FRCP, PhD; Dorfmuller, Peter MD, PhD; Preston, Stephen D. FRCPath; Southwood, Mark PhD; Hernandez-Sanchez, Jules PhD; Martin, Jennifer BSc; Treacy, Carmen BSc; Yates, Katherine BSc; Bogaard, Harm MD, PhD; Church, Colin FRCP, PhD; Coghlan, Gerry MD, FRCP; Condliffe, Robin MD; Corris, Paul A. MBBS, FRCP; Gibbs, Simon MD, FRCP; Girerd, Barbara PhD; Holden, Simon FRCP, PhD; Humbert, Marc MD, PhD; Kiely, David G. MD; Lawrie, Allan PhD; Machado, Rajiv PhD; MacKenzie Ross, Robert MB, BChir; Moledina, Shahin MBChB; Montani, David MD, PhD; Newnham, Michael MBBS; Peacock, Andrew MD; Pepke-Zaba, Joanna PhD, FRCP; Rayner-Matthews, Paula BSc; Shamardina, Olga PhD; Soubrier, Florent MD, PhD; Southgate, Laura PhD; Suntharalingam, Jay MD, FRCP; Toshner, Mark MD; Trembath, Richard FRCP, FMedSci; Noordegraaf, Anton Vonk MD; Wilkins, Martin R. MD, FRCP, FMedSci; Wort, Stephen J. PhD, FRCP; Wharton, John PhD; NIHR BioResource-Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH; Graf, Stefan PhD *,,,; Morrell, Nicholas W. MD, FRCP, FMedSci *,,; 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; Ouwehand, Willem H; Penkett, Christopher J; Raymond, F Lucy; Stirrups, Kathleen; Veltman, Marijke; Young, Tim; Ashford, Sofie; 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; Laffan, Michael A; Lambert, Michele P; Lentaigne, Claire; Liesner, Ri; Mangles, Sarah; Mathias, Mary; Millar, Carolyn M; Mumford, Andrew; Nurden, Paquita; Ouwehand, Willem H; Papadia, Sofia; 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; Stirrups, Kathleen; Whitehorn, Deborah; Watt, Christopher; Attwood, Antony; Daugherty, Louise; Deevi, Sri VV; Halmagyi, Csaba; Hu, Fengyuan; James, Roger; Matser, Vera; Meacham, Stuart; Megy, Karyn; Penkett, Christopher J; Stirrups, Kathleen; Titterton, Catherine; Tuna, Salih; Yu, Ping; von Ziegenweldt, Julie; Astle, William; Carss, Keren; Greene, Daniel; Lango-Allen, Hana; Turro, Ernest; Astle, William; Greene, Daniel; Richardson, Sylvia; Turro, Ernest; Calleja, Paul; Rankin, Stuart; Turek, Wojciech; Bryson, Christine; Anderson, Julie; Fletcher, Debra; McJannet, Coleen; Stock, Sophie; Young, Tim; 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; Carss, Keren; Sanchis-Juan, Alba; Erwood, Marie; Dewhurst, Eleanor; Grozeva, Detelina; Raymond, F Lucy; 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; Smith, Kenneth; Kuijpers, Taco; Thrasher, Adrian; Thaventhiran, James; Brown, Matthew; Lango Allen, Hana; Simeoni, Ilenia; 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; Doffinger, Rainer; 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

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