학술논문
'학술논문'
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1~10
Academic Journal
Melanie MY Chan; Omid Sadeghi-Alavijeh; Filipa M Lopes; Alina C Hilger; Horia C Stanescu; Catalin D Voinescu; Glenda M Beaman; William G Newman; Marcin Zaniew; Stefanie Weber; Yee Mang Ho; John O Connolly; Dan Wood; Carlo Maj; Alexander Stuckey; Athanasios Kousathanas; Genomics England Research Consortium; Robert Kleta; Adrian S Woolf; Detlef Bockenhauer; Adam P Levine; Daniel P Gale
eLife, Vol 11 (2022)
Academic Journal
Sadeghi-Alavijeh, O.; Chan, M.M.Y.; Moochhala, S.H.; Gale, D.P.; Böckenhauer, D.; Howles, S.; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Elgar, G.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, J.F.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O'Donovan, P.; Odhams, C.A.; Patch, C.; Pereira, M.B.; PerezGil, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.
In: Kidney International . (Kidney International, November 2023, 104(5):975-984)
Academic Journal
Chan, Melanie M. Y.; Sadeghi-Alavijeh, Omid; Lopes, Filipa M.; Hilger, Alina C.; Stanescu, Horia C.; Voinescu, Catalin D.; Beaman, Glenda M.; Newman, William G.; Zaniew, Marcin; Weber, Stefanie; Ho, Yee Mang; Connolly, John O.; Wood, Dan; Maj, Carlo; Stuckey, Alexander; Kousathanas, Athanasios; Ambrose, J. C.; Kleta, Robert; Woolf, Adrian S.; Bockenhauer, Detlef; Levine, Adam P.; Gale, Daniel P.; Germino, Gregory G.
Academic Journal
Downie, M.L.; Gupta, S.; Voinescu, C.; Sadeghi-Alavijeh, O.; Kleta, R.; Bockenhauer, D.; Stanescu, H.C.; Gale, D.P.; Levine, A.P.; Dufek-Kamperis, S.; Cao, J.; Parekh, R.; Christian, M.; Kari, J.A.; Thalgahagoda, S.; Ranawaka, R.; Abeyagunawardena, A.; Gbadegesin, R.
In: Kidney International Reports . (Kidney International Reports, August 2023, 8(8):1562-1574)
Academic Journal
Downie, M.L.; Gupta, S.; Chan, M.M.Y.; Sadeghi-Alavijeh, O.; Pepper, R.J.; Stanescu, H.; Kleta, R.; Bockenhauer, D.; Gale, D.P.; Cao, J.; Parekh, R.S.; Diz, C.B.; Koziell, A.B.; Bierzynska, A.; Saleem, M.A.; Levine, A.P.
In: Pediatric Nephrology . (Pediatric Nephrology, June 2023, 38(6):1793-1800)
Periodical
Postgraduate Medical Journal. Jan, 2016, Vol. 92 Issue 1083, p9, 5 p.
Academic Journal
Dixon, P.H.; Amin, A.S.; Mitchell, A.L.; Dixon, P.; Williamson, C.; Levine, A.P.; Chan, M.M.Y.; Aich, A.; Mozere, M.; Zhang, J.; Gale, D.; Levine, A.; Gale, D.P.; Cebola, I.; Maude, H.; Chambers, J.; Chambers, J.; Cheng, F.; Vazquez-Lopez, M.; Syngelaki, A.; Nicolaides, K.; Donnelly, J.; Cooley, S.; Geary, M.; Thorsell, M.; Hague, W.; Hague, W.M.; Estiu, M.C.; Estiu, M.C.; Marschall, H.-U.; Adlard, J.; Ahmed, M.; Kumar, A.; Side, L.; Aitman, T.; Parry, D.; Alachkar, H.; Gosal, D.; Allsup, D.; Almeida-King, J.; Ancliff, P.; Marks, S.; Moledina, S.; Rao, A.; Thrasher, A.; Walker, S.; Worth, A.; Antrobus, R.; Richter, A.; Armstrong, R.; Casey, R.; Grozeva, D.; Maher, E.; Paterson, J.; Raymond, F.L.; Whitworth, J.; Woods, G.; Park, S.-M.; Arno, G.; Jurkute, N.; Michaelides, M.; Moor, T.; Webster, A.; Ashford, S.; Astle, W.; Attwood, A.; Brown, M.; Carss, K.; Brod, N.C.; Crisp-Hihn, A.; Daugherty, L.; Davis, J.; Deevi, S.V.V.; Dewhurst, E.; Downes, K.; Edwards, K.; Erwood, M.; Fletcher, D.; Fox, J.; Frary, A.; Frontini, M.; Gräf, S.; Grassi, L.; Greene, D.; Haimel, M.; Hu, F.; James, R.; Jolley, J.; Kostadima, M.; Kreuzhuber, R.; Alle, H.L.; Linger, R.; Mapeta, R.; Martin, J.; Megy, K.; Ouwehan, W.; Papadi, S.; Penkett, C.; Petersen, R.; Rayner-Matthew, P.; Sanchis-Juan, A.; Seyres, D.; Sharmardina, O.; Simeoni, I.; Staines, S.; Stark, H.; Stephens, J.; Stirrups, K.; Stock, S.; Titterton, C.; Tuna, S.; Turro, E.; von Ziegenweidt, J.; Watt, C.; Whitehorn, D.; Wood, Y.; Yates, K.; Young, T.; Yu, P.; Richardson, S.; Babbs, C.; Louka, E.; Okoli, S.; Roberts, I.; Roy, N.; McCarthy, M.; Bakchoul, T.; Meacham, S.; Bariana, T.; Gomez, K.; Matthews, E.; Barwell, J.; Vale, T.; Bennett, D.; Themistocleous, A.; Van Zuydam, N.; Bentley, D.; Bourne, C.; Colombo, C.; Geoghegan, C.; Gerighty, T.; Grocock, R.; Hughes, J.; Humphray, S.; Hunter, S.; Peden, J.; Rees, C.; Bierzynska, A.; Colby, E.; Saleem, M.; Satchell, S.; Biss, T.; Talks, K.; Bleda, M.; Burren, O.; Hadinnapola, C.; Newnham, M.; Smith, K.G.C.; Staples, E.; Swietlik, E.; Thaventhiran, J.; Toshner, M.; Treacy, C.; Bogaard, H.; Houweling, A.; Noordegraaf, A.V.; Waisfisz, Q.; Boyce, S.; Kazmi, R.; Breen, G.; Brennan, P.; Brewer, C.; Browning, M.; Buchan, R.; Cook, S.; Gibbs, S.; Harper, A.; Howard, L.; Ware, J.; Wort, S.; Buckland, M.; Burns, S.; Coghlan, G.; Kelleher, P.; Bueser, T.; Trembath, R.; Carr-White, G.; Calleja, P.; Klima, R.; Rankin, S.; Renton, T.; Turek, W.; Chambers, J.; Chinnery, P.F.; Wei, W.; Yu-Wai-Man, P.; Christian, M.; Church, C.; Peacock, A.; Cole, T.; Hoffmann, J.; Ong, K.R.; Collins, J.; Hart, D.; Sivapalaratnam, S.; Collins, P.; Obaji, S.; Condliffe, R.; Kiely, D.; Cook, T.; Cooper, N.; Ghofrani, H.-A.; Wharton, J.; Wilkins, M.R.; Corris, P.; Harris, C.; Marchbank, K.; McAlinden, P.; Curry, N.; Shapiro, S.; Danesino, C.; Daniels, M.; Ormondroy, E.; Thomson, K.; Watkins, H.; Dent, T.; Drazyk, A.; Markus, H.S.; Tan, R.; Traylor, M.; Drewe, E.; Hall, M.; Dutt, T.; Toh, C.-H.; Edgar, D.; Egner, W.; Sargur, R.; Erber, W.; Evans, G.; Roughley, C.; Evans, D.G.; Lalloo, F.; Woodward, E.; Everington, T.; Eyries, M.; Soubrier, F.; Favier, R.; French, C.; Freson, K.; Peerlinck, K.; Thys, C.; Van Geet, C.; Gall, H.; Seeger, W.; Ghio, S.; Scelsi, L.; Gilmour, K.; Maimaris, J.; Girerd, B.; Humbert, M.; Montani, D.; Goddard, S.; Wessels, J.; Gordins, P.; Greenhalgh, L.; Hanson, H.; Greinacher, A.; Gresele, P.; Griffiths, P.; Wong, E.; Grigoriadou, S.; Longhurst, H.; Hackett, S.; Huissoon, A.; Welch, S.; Harkness, K.; Hassan, A.; Hayman, G.; Henderson, A.; Horvath, R.; Hudson, G.; Pyle, A.; Hurles, M.; Izatt, L.; Johnson, S.; Jolles, S.; Kasanicki, M.; Kumararatne, D.; Kazkaz, H.; Scully, M.; Westwood, J.-P.; Kovacs, G.; Olschewski, A.; Olschewski, H.; Koziell, A.; Kuijpers, T.; Kuria, M.; Laffa, M.; Layton, M.; Lentaigne, C.; Millar, C.; Morrell, N.; Lamber, M.; Lawrie, A.; Ross, R.M.K.; Suntharalingam, J.; Madan, B.; O’Sullivan, J.; Mangles, S.; Marshall, A.; Mathias, M.; Sibson, K.; Maxwell, H.; Mead, A.; Mehta, S.; Muir, K.; Mumford, A.; Westbury, S.; Pepke-Zaba, J.; Rice, A.; Sadeghi-Alavijeh, O.; Samani, N.; Savic, S.; Schulman, S.; Searle, C.; Sewell, C.; Shtoyerman, R.; Simpson, M.; Skytte, A.-B.; Snape, K.; Tait, R.C.; Thomas, M.; Tischkowitz, M.; Wood, N.; Yong, P.; Caulfield, M.; Boardman-Pretty, F.; Henderson, S.; Jones, L.J.; Kasperaviciute, D.; Moutsianas, L.; Mueller, M.; Need, A.C.; Patch, C.; Sosinsky, A.; Thomas, E.R.A.; Tucci, A.; Witkowska, K.; Wood, S.M.; Bradley, J.; Kingston, N.; Rendon, A.; Smith, K.; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Chan, G.C.; Fowler, T.; Giess, A.; Hamblin, A.; Hubbard, T.J.P.; Jackson, R.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Murugaesu, N.; O’Donovan, P.; Odhams, C.A.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thompson, S.R.; Welland, M.J.; Williams, E.
In: Nature Communications . (Nature Communications, December 2022, 13(1))
Academic Journal
Gibson, J.T.; Savige, J.; Savige, J.; Sadeghi-Alavijeh, O.; Gale, D.P.; Sadeghi-Alavijeh, O.; Gale, D.P.; Rothe, H.; Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; Furió-Tarí, P.; Giess, A.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; Odhams, C.A.; Orioli, A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Smith, S.C.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Tanguy, M.; Thomas, E.R.A.; Thompson, S.R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.
In: Scientific Reports . (Scientific Reports, December 2022, 12(1))
Academic Journal
Gibson, J.T.; Huang, M.; Shenelli Croos Dabrera, M.; Shukla, K.; Savige, J.; Rothe, H.; Hilbert, P.; Deltas, C.; Storey, H.; Lipska-Ziętkiewicz, B.S.; Chan, M.M.Y.; Sadeghi-Alavijeh, O.; Gale, D.P.; Cerkauskaite, A.; Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; Furió-Tarí, P.; Giess, A.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; Odhams, C.A.; Orioli, A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Smith, S.C.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Tanguy, M.; Thomas, E.R.A.; Thompson, S.R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.
In: Scientific Reports . (Scientific Reports, December 2022, 12(1))
Academic Journal
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; Attwood, Anthony; Brown, Matthew; Brod, Naomi Clements; Crisp-Hihn, Abigail; Davis, John; Deevi, Sri V. V.; Dewhurst, Eleanor F.; Edwards, Karen; Erwood, Marie; Fox, James; Frary, Amy J.; Hu, Fengyuan; Jolley, Jennifer; Kingston, Nathalie; Linger, Rachel; Mapeta, Rutendo; Martin, Jennifer; Meacham, Stuart; Papadia, Sofia; Rayner-Matthews, Paula J.; Samarghitean, Crina; Shamardina, Olga; Simeoni, Ilenia; Staines, Simon; Staples, Emily; Stark, Hannah; Stephens, Jonathan; Titterton, Catherine; von Ziegenweidt, Julie; Watt, Christopher; Whitehorn, Deborah; Wood, Yvette; Yates, Katherine; Yu, Ping; James, Roger; Ashford, Sofie; Penkett, Christopher J.; Stirrups, Kathleen E.; Bariana, Tadbir; Lentaigne, Claire; Sivapalaratnam, Suthesh; Westbury, Sarah K.; Allsup, David J.; Bakchoul, Tamam; Biss, Tina; Boyce, Sara; Collins, Janine; Collins, Peter W.; Curry, Nicola S.; Downes, Kate; Dutt, Tina; Erber, Wendy N.; Evans, Gillian; Everington, Tamara; Favier, Remi; Gomez, Keith; Greene, Daniel; Gresele, Paolo; Hart, Daniel; Kazmi, Rashid; Kelly, Anne M.; Lambert, Michele; Madan, Bella; Mangles, Sarah; Mathias, Mary; Millar, Carolyn; Obaji, Samya; Peerlinck, Kathelijne; Roughley, Catherine; Schulman, Sol; Scully, Marie; Shapiro, Susan E.; Sibson, Keith; Sims, Matthew C.; Tait, R. Campbell; Talks, Kate; Thys, Chantal; Toh, Cheng-Hock; Van Geet, Chris; Westwood, John-Paul; Mumford, Andrew D.; Ouwehand, Willem H.; Freson, Kathleen; Laffan, Michael A.; Tan, Rhea Y. Y.; Harkness, Kirsty; Mehta, Sarju; Muir, Keith W.; Hassan, Ahamad; Traylor, Matthew; Drazyk, Anna M.; Parry, David; Ahmed, Munaza; Kazkaz, Hanadi; Vandersteen, Anthony M.; Ormondroyd, Elizabeth; Thomson, Kate; Dent, Timothy; Buchan, Rachel J.; Bueser, Teofila; Carr-White, Gerald; Cook, Stuart; Daniels, Matthew J.; Harper, Andrew R.; Ware, James S.; Dixon, Peter H.; Chambers, Jenny; Cheng, Floria; Estiu, Maria C.; Hague, William M.; Marschall, Hanns-Ulrich; Vazquez-Lopez, Marta; Arno, Gavin; French, Courtney E.; Michaelides, Michel; Moore, Anthony T.; Sanchis-Juan, Alba; Carss, Keren; Raymond, F. Lucy; Chinnery, Patrick F.; Griffiths, Philip; Horvath, Rita; Hudson, Gavin; Jurkute, Neringa; Pyle, Angela; Yu-Wai-Man, Patrick; Whitworth, James; Adlard, Julian; Armstrong, Ruth; Brewer, Carole; Casey, Ruth; Cole, Trevor R. P.; Evans, Dafydd Gareth; Greenhalgh, Lynn; Hanson, Helen L.; Hoffman, Jonathan; Izatt, Louise; Kumar, Ajith; Lalloo, Fiona; Ong, Kai Ren; Park, Soo-Mi; Searle, Claire; Side, Lucy; Snape, Katie; Woodward, Emma; Tischkowitz, Marc; Grozeva, Detelina; Kurian, Manju A.; Themistocleous, Andreas C.; Gosal, David; Marshall, Andrew; Matthews, Emma; McCarthy, Mark I.; Renton, Tara; Rice, Andrew S. C.; Vale, Tom; Walker, Suellen M.; Woods, Christopher Geoffrey; Thaventhiran, James E.; Allen, Hana Lango; Savic, Sinisa; Alachkar, Hana; Antrobus, Richard; Baxendale, Helen E.; Browning, Michael J.; Buckland, Matthew S.; Cooper, Nichola; Edgar, J. David M.; Egner, William; Gilmour, Kimberly C.; Goddard, Sarah; Gordins, Pavels; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Hayman, Grant; Herwadkar, Archana; Huissoon, Aarnoud P.; Jolles, Stephen; Kelleher, Peter; Kumararatne, Dinakantha; Longhurst, Hilary; Lorenzo, Lorena E.; Lyons, Paul A.; Maimaris, Jesmeen; Noorani, Sadia; Richter, Alex; Sargur, Ravishankar B.; Sewell, W. A. Carrock; Thomas, David; Thomas, Moira J.; Worth, Austen; Yong, Patrick F. K.; Kuijpers, Taco W.; Thrasher, Adrian J.; Levine, Adam P.; Sadeghi-Alavijeh, Omid; Wong, Edwin K. S.; Cook, H. Terence; Chan, Melanie M. Y.; Hall, Matthew; Harris, Claire; McAlinden, Paul; Marchbank, Kevin J.; Marks, Stephen; Maxwell, Heather; Mozere, Monika; Wessels, Julie; Johnson, Sally A.; Bleda, Marta; Hadinnapola, Charaka; Haimel, Matthias; Swietlik, Emilia; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul; Danesino, Cesare; Eyries, Melanie; Gall, Henning; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Girerd, Barbara; Holden, Simon; Houweling, Arjan; Howard, Luke S.; Humbert, Marc; Kiely, David G.; Kovacs, Gabor; Lawrie, Allan; Ross, Robert V. MacKenzie; Moledina, Shahin; Montani, David; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Peacock, Andrew; Pepke-Zaba, Joanna; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Suntharalingam, Jay; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Wharton, John; Wilkins, Martin R.; Wort, Stephen J.; Graf, Stefan; Louka, Eleni; Roy, Noemi B.; Rao, Anupama; Ancliff, Philip; Babbs, Christian; Layton, D. Mark; Mead, Adam J.; O'Sullivan, Jennifer; Okoli, Steven; Saleem, Moin; Bierzynska, Agnieszka; Diz, Carmen Bugarin; Colby, Elizabeth; Ekani, Melanie N.; Satchell, Simon; Fowler, Tom; Rendon, Augusto; Scott, Richard; Smedley, Damian; Thomas, Ellen; Caulfield, Mark; Abbs, Stephen; Burrows, Nigel; Chitre, Manali; Gattens, Michael; Gurnell, Mark; Kelsall, Wilf; Poole, Ken E. S.; Ross-Russell, Robert; Spasic-Boskovic, Olivera; Twiss, Philip; Wagner, Annette; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Cleary, Maureen; Dattani, Mehul; Ganesan, Vijeya; Pilkington, Clarissa; Rahman, Shamima; Shah, Neil; Wedderburn, Lucy; Compton, Cecilia J.; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Josifova, Dragana; Mohammed, Shehla N.; Robert, Leema; Rose, Sarah J.; Ruddy, Deborah M.; Sarkany, Robert N.; Sayer, Genevieve; Shaw, Adam C.; Campbell, Carolyn; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Patel, Smita; Sen, Arjune; Taylor, John; Tomlinson, Ian P.; Malka, Samantha; Browning, Andrew C.; Burn, John; De Soyza, Anthony; Graham, Jodie; Pearce, Simon; Quinton, Richard; Schaefer, Andrew M.; Wilson, Brian T.; Wright, Michael; Simpson, Michael; Syrris, Petros; Bradley, John R.; Turro, Ernest; NIHR BioResource-Rare Dis; 100000 Genomes Project-Rare Dis
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