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Cif, L; Demailly, D; Lin, JP; Barwick, KE; Sa, M; Abela, L; Malhotra, S; Chong, WK; Steel, D; Sanchis-Juan, A; Ngoh, A; Trump, N; Meyer, E; Vasques, X; Rankin, J; Allain, MW; Applegate, CD; Isfahani, S Attaripour; Baleine, J; Balint, B; Bassetti, JA; Baple, EL; Bhatia, KP; Blanchet, C; Burglen, L; Cambonie, G; Seng, EC; Bastaraud, SC; Cyprien, F; Coubes, C; d'Hardemare, V; Study, Deciphering Developmental Disorders; Doja, A; Dorison, N; Doummar, D; Dy-Hollins, ME; Farrelly, E; Fitzpatrick, DR; Fearon, C; Fieg, EL; Fogel, BL; Forman, EB; Fox, RG; Consortium, Genomics England Research; Gahl, WA; Galosi, S; Gonzalez, V; Graves, TD; Gregory, A; Hallett, M; Hasegawa, H; Hayflick, SJ; Hamosh, A; Hully, M; Jansen, S; Jeong, SY; Krier, JB; Krystal, S; Kumar, KR; Laurencin, C; Lee, H; Lesca, G; François, LL; Lynch, T; Mahant, N; Martinez-Agosto, JA; Milesi, C; Mills, KA; Mondain, M; Morales-Briceno, H; BioResource, NIHR; Ostergaard, JR; Pal, S; Pallais, JC; Pavillard, F; Perrigault, PF; Petersen, AK; Polo, G; Poulen, G; Rinne, T; Roujeau, T; Rogers, C; Roubertie, A; Sahagian, M; Schaefer, E; Selim, L; Selway, R; Sharma, N; Signer, R; Soldatos, AG; Stevenson, DA; Stewart, F; Tchan, M; Network, Undiagnosed Diseases; Verma, IC; de Vries, BBA; Wilson, JL; Wong, DA; Zaitoun, R; Zhen, D; Znaczko, A; Dale, RC; de Gusmão, CM; Friedman, J; Fung, VSC; King, MD; Mohammad, SS; Rohena, L; Waugh, JL; Toro, C; Raymond, FL; Topf, M; Coubes, P; Gorman, KM; Kurian, MA
Brain. 2020 Dec 5;143(11):3242-3261
Academic Journal
de Bruijn, SE; Fiorentino, A; Ottaviani, D; Fanucchi, S; Melo, US; Corral-Serrano, JC; Mulders, T; Georgiou, M; Rivolta, C; Pontikos, N; Arno, G; Roberts, L; Greenberg, J; Albert, S; Gilissen, C; Aben, M; Rebello, G; Mead, S; Raymond, FL; Corominas, J; Smith, CEL; Kremer, H; Downes, S; Black, GC; Webster, AR; Inglehearn, CF; van den Born, LI; Koenekoop, RK; Michaelides, M; Ramesar, RS; Hoyng, CB; Mundlos, S; Mhlanga, MM; Cremers, FPM; Cheetham, ME; Roosing, S; Hardcastle, AJ
Am J Hum Genet
American Journal of Human Genetics, 107, 5, pp. 802-814
American Journal of Human Genetics, 107, 5, pp. 802-814
Academic Journal
Alston, CL; Heidler, J; Dibley, MG; Kremer, LS; Taylor, LS; Fratter, C; French, CE; Glasgow, RIC; Feichtinger, RG; Delon, I; Pagnamenta, AT; Dolling, H; Lemonde, H; Aiton, N; Bjørnstad, A; Henneke, L; Gärtner, J; Thiele, H; Tauchmannova, K; Quaghebeur, G; Houstek, J; Sperl, W; Raymond, FL; Prokisch, H; Mayr, JA; McFarland, R; Poulton, J; Ryan, MT; Wittig, I; Henneke, M; Taylor, RW
Am J Hum Genet
Am. J. Hum. Genet. 103, 592-601 (2018)
Am. J. Hum. Genet. 103, 592-601 (2018)
Academic Journal
Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; Carss, K; Stephens, J; Stirrups, K; Penkett, C; Mapeta, R; Ashford, S; Megy, K; Shakeel, H; Ahmed, M; Adlard, J; Barwell, J; Brewer, C; Casey, RT; Armstrong, R; Cole, T; Evans, DG; Fostira, F; Greenhalgh, L; Hanson, H; Henderson, A; Hoffman, J; Izatt, L; Kumar, A; Kwong, A; Lalloo, F; Ong, KR; Paterson, J; Park, S-M; Chen-Shtoyerman, R; Searle, C; Side, L; Skytte, A-B; Snape, K; Woodward, ER; Tischkowitz, MD; Maher, ER; Aitman, T; Alachkar, H; Ali, S; Allen, L; Allsup, D; Ambegaonkar, G; Anderson, J; Antrobus, R; Arno, G; Arumugakani, G; Astle, W; Attwood, A; Austin, S; Bacchelli, C; Bakchoul, T; Bariana, TK; Baxendale, H; Bennett, D; Bethune, C; Bibi, S; Bitner-Glindzicz, M; Bleda, M; Boggard, H; Bolton-Maggs, P; Booth, C; Bradley, JR; Brady, A; Brown, M; Browning, M; Bryson, C; Burns, S; Calleja, P; Canham, N; Carmichael, J; Caulfield, M; Chalmers, E; Chandra, A; Chinnery, P; Chitre, M; Church, C; Clement, E; Clements-Brod, N; Clowes, V; Coghlan, G; Collins, P; Cookson, V; Cooper, N; Corris, P; Creaser-Myers, A; Dacosta, R; Daugherty, L; Davies, S; Davis, J; De Vries, M; Deegan, P; Deevi, SVV; Deshpande, C; Devlin, L; Dewhurst, E; Dixon, P; Doffinger, R; Dormand, N; Drewe, E; Edgar, D; Egner, W; Erber, WN; Erwood, M; Everington, T; Favier, R; Firth, H; Fletcher, D; Flinter, F; Frary, A; Freson, K; Furie, B; Furnell, A; Gale, D; Gardham, A; Gattens, M; Ghali, N; Ghataorhe, PK; Ghurye, R; Gibbs, S; Gilmour, K; Gissen, P; Goddard, S; Gomez, K; Gordins, P; Graf, S; Gräf, S; Greene, D; Greenhalgh, A; Greinacher, A; Grigoriadou, S; Grozeva, D; Hackett, S; Hadinnapola, C; Hague, R; Haimel, M; Halmagyi, C; Hammerton, T; Hart, D; Hayman, G; Heemskerk, JWM; Henderson, R; Hensiek, A; Henskens, Y; Herwadkar, A; Holden, S; Holder, M; Holder, S; Hu, F; Veld, A; Huissoon, A; Humbert, M; Hurst, J; James, R; Jolles, S; Josifova, D; Kazmi, R; Keeling, D; Kelleher, P; Kelly, AM; Kennedy, F; Kiely, D; Kingston, N; Koziell, A; Krishnakumar, D; Kuijpers, TW; Kuijpers, T; Kumararatne, D; Kurian, M; Laffan, MA; Lambert, MP; Allen, HL; Lango-Allen, H; Lawrie, A; Lear, S; Lees, M; Lentaigne, C; Liesner, R; Linger, R; Longhurst, H; Lorenzo, L; Louka, E; Machado, R; Ross, RM; Maclaren, R; Maher, E; Maimaris, J; Mangles, S; Manson, A; Markus, HS; Martin, J; Masati, L; Mathias, M; Matser, V; Maw, A; McDermott, E; McJannet, C; Meacham, S; Meehan, S; Mehta, S; Michaelides, M; Millar, CM; Moledina, S; Moore, A; Morrell, N; Mumford, A; Murng, S; Murphy, E; Nejentsev, S; Noorani, S; Nurden, P; Oksenhendler, E; Othman, S; Ouwehand, WH; Papadia, S; Parker, A; Pasi, J; Patch, C; Payne, J; Peacock, A; Peerlinck, K; Penkett, CJ; Pepke-Zaba, J; Perry, D; Perry, DJ; Pollock, V; Polwarth, G; Ponsford, M; Qasim, W; Quinti, I; Rankin, S; Rankin, J; Raymond, FL; Rayner-Matthews, P; Rehnstrom, K; Reid, E; Rhodes, CJ; Richards, M; Richardson, S; Richter, A; Roberts, I; Rondina, M; Rosser, E; Roughley, C; Roy, N; Rue-Albrecht, K; Samarghitean, C; Sanchis-Juan, A; Sandford, R; Santra, S; Sargur, R; Savic, S; Schotte, G; Schulman, S; Schulze, H; Scott, R; Scully, M; Seneviratne, S; Sewell, C; Shamardina, O; Shipley, D; Simeoni, I; Sivapalaratnam, S; Smith, KGC; Sohal, A; Southgate, L; Staines, S; Staples, E; Stark, H; Stauss, H; Stein, P; Stock, S; Suntharalingam, J; Talks, K; Tan, Y; Thachil, J; Thaventhiran, J; Thomas, E; Thomas, M; Thompson, D; Thrasher, A; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Van Geet, C; Veltman, M; Vogt, J; Von Ziegenweldt, J; Noordegraaf, AV; Wakeling, E; Wanjiku, I; Warner, TQ; Wassmer, E; Watkins, H; Watt, C; Webster, N; Welch, S; Westbury, S; Wharton, J; Whitehorn, D; Wilkins, M; Willcocks, L; Williamson, C; Woods, G; Wort, J; Yeatman, N; Yong, P; Young, T; Yu, P
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American journal of human genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
Whitworth, J, Smith, P S, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, R T, Armstrong, R, Cole, T, Evans, D G, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, K R, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, E R & NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, ' Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes ', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18 . https://doi.org/10.1016/j.ajhg.2018.04.013
NIHR BioResource Rare Diseases Consortium & Evans, D G 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', Cell, vol. 103, no. 1. https://doi.org/10.1016/j.ajhg.2018.04.013
American Journal of Human Genetics
AMERICAN JOURNAL OF HUMAN GENETICS
NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American journal of human genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
Whitworth, J, Smith, P S, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, R T, Armstrong, R, Cole, T, Evans, D G, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, K R, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, E R & NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, ' Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes ', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18 . https://doi.org/10.1016/j.ajhg.2018.04.013
NIHR BioResource Rare Diseases Consortium & Evans, D G 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', Cell, vol. 103, no. 1. https://doi.org/10.1016/j.ajhg.2018.04.013
American Journal of Human Genetics
Academic Journal
French, CE; Delon, I; Dolling, H; Sanchis-Juan, A; Shamardina, O; Mégy, K; Abbs, S; Austin, T; Bowdin, S; Branco, RG; Firth, H; Tuna, S; Aitman, TJ; Ashford, S; Astle, WJ; Bennet, DL; Bleda, M; Carss, KJ; Chinnery, PF; Deevi, SVV; Fletcher, D; Gale, DP; Gräf, SF; Hu, F; James, R; Kasanicki, MA; Kingston, N; Koziell, AB; Allen, HL; Maher, ER; Markus, HS; Meacham, S; Morrell, NW; Penkett, CJ; Roberts, I; Smith, KGC; Stark, H; Stirrups, KE; Turro, E; Watkins, H; Williamson, C; Young, T; Bradley, JR; Ouwehand, WH; Raymond, FL; Agrawal, S; Armstrong, R; Beardsall, K; Belteki, G; Bohatschek, M; Broster, S; Campbell, R; Chaudhary, R; Costa, C; D’Amore, A; Fitzsimmons, A; Hague, J; Harley, J; Hoodbhoy, S; Kayani, R; Kelsall, W; Mehta, SG; O’Donnell, R; O’Hare, S; Ogilvy-Stuart, A; Papakostas, S; Park, SM; Parker, A; Pathan, N; Prapa, M; Sammut, A; Sandford, R; Schon, K; Singh, Y; Spike, K; Tavares, ALT; Wari-Pepple, D; Wong, HS; Woods, CG; Rowitch, DH
Intensive Care Med
French, C E, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, R G, Firth, H, Williamson, C & Rowitch, D H & Raymond, F L & Dixon, P 2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x
2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x
French, C E, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, R G, Firth, H, Williamson, C & Rowitch, D H & Raymond, F L & Dixon, P 2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x
2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x
Academic Journal
Khan, KN; Lord, EC; Arno, G; Islam, F; Carss, KJ; Raymond, FL; Toomes, C; Ali, M; Inglehearn, CF; Webster, AR; Moore, AT; Poulter, JA; Michaelides, M
Retina. 38:620-628
Academic Journal
Klöckner, C; Sticht, H; Zacher, P; Popp, B; Bakker, DP; Barwick, K; Bonfert, MV; Bönnemann, CG; Brilstra, EH; Chung, WK; Clarke, AJ; Devine, P; Donkervoort, S; Fraser, JL; Friedman, J; Gates, A; Ghoumid, J; Hobson, E; Horvath, G; Keller-Ramsay, J; Keren, B; Kurian, MA; Lee, V; Leppig, K; Lundgren, J; McDonald, M; McTague, A; Mefford, H; Mignot, C; Mikati, M; Nava, C; Raymond, FL; Sampson, J; Sanchis-Juan, A; Shashi, V; Shieh, J; Shinawi, M; Slavotinek, A; Stödberg, T; Stong, N; Sullivan, J; Taylor, A; Toler, T; Van den Boogaard, M-J; Van der Crabben, S; Van Gassen, K; Van Jaarsveld, RH; Van Ziffle, J; Wadley, A; Wagner, M; Wigby, K; Wortman, S; Zarate, Y; Moller, RS; Lemke, JR; Platzer, K
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
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Academic Journal
Takatani, R; Molinaro, A; Grigelioniene, G; Tafaj, O; Watanabe, T; Reyes, M; Sharma, A; Singhal, V; Raymond, FL; Linglart, A
JOURNAL OF BONE AND MINERAL RESEARCH. 31(4):796-805
Academic Journal
Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; Wang, C; Ahluwalia, TS; Vrijheid, M; Guxens, M; Sunyer, J; Tachmazidou, I; Walter, K; Iotchkova, V; Jackson, A; Cleal, L; Huffmann, J; Min, JL; Sass, L; Timmers, PRHJ; Al Turki, S; Anderson, CA; Anney, R; Antony, D; Artigas, MS; Ayub, M; Bala, S; Barrett, JC; Barroso, I; Beales, P; Bentham, J; Bhattacharya, S; Birney, E; Blackwood, D; Bobrow, M; Bochukova, E; Bolton, PF; Bounds, R; Boustred, C; Breen, G; Calissano, M; Carss, K; Charlton, R; Chatterjee, K; Chen, L; Ciampi, A; Cirak, S; Clapham, P; Clement, G; Coates, G; Cocca, M; Collier, DA; Cosgrove, C; Cox, T; Craddock, N; Crooks, L; Curran, S; Curtis, D; Daly, A; Danecek, P; Day, INM; Day-Williams, A; Dominiczak, A; Down, T; Du, Y; Dunham, I; Durbin, R; Edkins, S; Ekong, R; Ellis, P; Evans, DM; Farooqi, IS; Fitzpatrick, DR; Flicek, P; Floyd, J; Foley, AR; Franklin, CS; Futema, M; Gallagher, L; Gaunt, TR; Geihs, M; Geschwind, D; Greenwood, CMT; Griffin, H; Grozeva, D; Guo, X; Gurling, H; Hart, D; Hendricks, AE; Holmans, P; Howie, B; Huang, J; Huang, L; Hubbard, T; Humphries, SE; Hurles, ME; Hysi, P; Jackson, DK; Jamshidi, Y; Joyce, C; Karczewski, KJ; Kaye, J; Keane, T; Kemp, JP; Kennedy, K; Kent, A; Keogh, J; Khawaja, F; van Kogelenberg, M; Kolb-Kokocinski, A; Lachance, G; Langford, C; Lawson, D; Lee, I; Lek, M; Li, R; Li, Y; Liang, J; Lin, H; Liu, R; Lonnqvist, J; Lopes, LR; Lopes, M; MacArthur, DG; Mangino, M; Marchini, J; Marenne, G; Maslen, J; Mathieson, I; McCarthy, S; McGuffin, P; McIntosh, AM; McKechanie, AG; McQuillin, A; Memari, Y; Metrustry, S; Migone, N; Mitchison, HM; Moayyeri, A; Morris, A; Morris, J; Muddyman, D; Muntoni, F; Northstone, K; O'Donovan, MC; O'Rahilly, S; Onoufriadis, A; Oualkacha, K; Owen, MJ; Palotie, A; Panoutsopoulou, K; Parker, V; Parr, JR; Paternoster, L; Paunio, T; Payne, F; Payne, SJ; Perry, JRB; Pietilainen, O; Plagnol, V; Pollitt, RC; Porteous, DJ; Povey, S; Quail, MA; Quaye, L; Raymond, FL; Rehnstrom, K; Richards, JB; Ridout, CK; Ring, S; Ritchie, GRS; Roberts, N; Robinson, RL; Savage, DB; Scambler, P; Schiffels, S; Schmidts, M; Schoenmakers, N; Scott, RH; Semple, RK; Serra, E; Sharp, SI; Shaw, A; Shihab, HA; Shin, S-Y; Skuse, D; Small, KS; Smee, C; Smith, BH; Soranzo, N; Southam, L; Spasic-Boskovic, O; Spector, TD; St Clair, D; Stalker, J; Stevens, E; Sun, J; Surdulescu, G; Suvisaari, J; Syrris, P; Taylor, R; Tian, J; Tobin, MD; Valdes, AM; Vandersteen, AM; Vijayarangakannan, P; Visscher, PM; Wain, LV; Walters, JTR; Wang, G; Wang, J; Wang, Y; Ward, K; Wheeler, E; Whyte, T; Williams, HJ; Williamson, KA; Wilson, C; Wilson, SG; Wong, K; Xu, C; Yang, J; Zhang, F; Zhang, P; Zheng, H-F; Smith, GD; Fisher, SE; Wilson, JF; Cole, TJ; Fernandez-Orth, D; Bonnelykke, K; Bisgaard, H; Pennell, CE; Jaddoe, VWV; Dedoussis, G; Timpson, N; Zeggini, E; Vitart, V; St Pourcain, B; UK10K Consortium
Nat Commun
Recercat. Dipósit de la Recerca de Catalunya
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Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Cole, T J, Timpson, N & Zeggini, E & St Pourcain, B 2019, 'Low-frequency variation in TP53 has large effects on head circumference and intracranial volume', Nature Communications, vol. 10, 357. https://doi.org/10.1038/s41467-018-07863-x
UK10K Consortium, Al Turki, S, Anderson, C A, Anney, R, Zhang, F, Zhang, P & Zheng, H-F 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gómez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffman, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Fisher, S E, Wilson, J F, Cole, T J, Fernandez-Orth, D, Bønnelykke, K, Bisgaard, H, Pennell, C E, Jaddoe, V W V, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V & St Pourcain, B & McKechanie, A G 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Cole, T J, Timpson, N & Zeggini, E & St Pourcain, B 2019, 'Low-frequency variation in TP53 has large effects on head circumference and intracranial volume', Nature Communications, vol. 10, 357. https://doi.org/10.1038/s41467-018-07863-x
UK10K Consortium, Al Turki, S, Anderson, C A, Anney, R, Zhang, F, Zhang, P & Zheng, H-F 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Haworth, S, Shapland, C Y, Hayward, C, Prins, B P, Felix, J F, Medina-Gómez, C, Rivadeneira, F, Wang, C, Ahluwalia, T S, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffman, J, Min, J L, Sass, L, Timmers, P R H J, Davey Smith, G, Fisher, S E, Wilson, J F, Cole, T J, Fernandez-Orth, D, Bønnelykke, K, Bisgaard, H, Pennell, C E, Jaddoe, V W V, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V & St Pourcain, B & McKechanie, A G 2019, ' Low-frequency variation in TP53 has large effects on head circumference and intracranial volume ', Nature Communications, vol. 10, 357 . https://doi.org/10.1038/s41467-018-07863-x
Academic Journal
Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; Gale, DP; Bitner-Glindzicz, MAK; Black, GC; Brennan, P; Elliott, P; Flinter, FA; Floto, RA; Houlden, H; Irving, M; Koziell, A; Maher, ER; Markus, HS; Morrell, NW; Newman, WG; Roberts, I; Sayer, JA; Smith, KGC; Taylor, JC; Watkins, H; Webster, AR; Wilkie, AOM; Williamson, C; Attwood, A; Brown, M; Brod, NC; Crisp-Hihn, A; Davis, J; Deevi, SVV; Dewhurst, EF; Edwards, K; Erwood, M; Fox, J; Frary, AJ; Hu, F; Jolley, J; Kingston, N; Linger, R; Mapeta, R; Martin, J; Meacham, S; Papadia, S; Rayner-Matthews, PJ; Samarghitean, C; Shamardina, O; Simeoni, I; Staines, S; Staples, E; Stark, H; Stephens, J; Titterton, C; Von Ziegenweidt, J; Watt, C; Whitehorn, D; Wood, Y; Yates, K; Yu, P; James, R; Ashford, S; Penkett, CJ; Stirrups, KE; Bariana, T; Lentaigne, C; Sivapalaratnam, S; Westbury, SK; Allsup, DJ; Bakchoul, T; Biss, T; Boyce, S; Collins, J; Collins, PW; Curry, NS; Downes, K; Dutt, T; Erber, WN; Evans, G; Everington, T; Favier, R; Gomez, K; Greene, D; Gresele, P; Hart, D; Kazmi, R; Kelly, AM; Lambert, M; Madan, B; Mangles, S; Mathias, M; Millar, C; Obaji, S; Peerlinck, K; Roughley, C; Schulman, S; Scully, M; Shapiro, SE; Sibson, K; Sims, MC; Tait, RC; Talks, K; Thys, C; Toh, C-H; Van Geet, C; Westwood, J-P; Mumford, AD; Ouwehand, WH; Freson, K; Laffan, MA; Tan, RYY; Harkness, K; Mehta, S; Muir, KW; Hassan, A; Traylor, M; Drazyk, AM; Parry, D; Ahmed, M; Kazkaz, H; Vandersteen, AM; Ormondroyd, E; Thomson, K; Dent, T; Buchan, RJ; Bueser, T; Carr-White, G; Cook, S; Daniels, MJ; Harper, AR; Ware, JS; Dixon, PH; Chambers, J; Cheng, F; Estiu, MC; Hague, WM; Marschall, H-U; Vazquez-Lopez, M; Arno, G; French, CE; Michaelides, M; Moore, AT; Sanchis-Juan, A; Carss, K; Raymond, FL; Chinnery, PF; Griffiths, P; Horvath, R; Hudson, G; Jurkute, N; Pyle, A; Yu-Wai-Man, P; Whitworth, J; Adlard, J; Armstrong, R; Brewer, C; Casey, R; Cole, TRP; Evans, DG; Greenhalgh, L; Hanson, HL; Hoffman, J; Izatt, L; Kumar, A; Lalloo, F; Ong, KR; Park, S-M; Searle, C; Side, L; Snape, K; Woodward, E; Tischkowitz, M; Grozeva, D; Kurian, MA; Themistocleous, AC; Gosal, D; Marshall, A; Matthews, E; McCarthy, MI; Renton, T; Rice, ASC; Vale, T; Walker, SM; Woods, CG; Thaventhiran, JE; Allen, HL; Savic, S; Alachkar, H; Antrobus, R; Baxendale, HE; Browning, MJ; Buckland, MS; Cooper, N; Edgar, JDM; Egner, W; Gilmour, KC; Goddard, S; Gordins, P; Grigoriadou, S; Hackett, S; Hague, R; Hayman, G; Herwadkar, A; Huissoon, AP; Jolles, S; Kelleher, P; Kumararatne, D; Longhurst, H; Lorenzo, LE; Lyons, PA; Maimaris, J; Noorani, S; Richter, A; Sargur, RB; Sewell, WAC; Thomas, D; Thomas, MJ; Worth, A; Yong, PFK; Kuijpers, TW; Thrasher, AJ; Levine, AP; Sadeghi-Alavijeh, O; Wong, EKS; Cook, HT; Chan, MMY; Hall, M; Harris, C; McAlinden, P; Marchbank, KJ; Marks, S; Maxwell, H; Mozere, M; Wessels, J; Johnson, SA; Bleda, M; Hadinnapola, C; Haimel, M; Swietlik, E; Bogaard, H; Church, C; Coghlan, G; Condliffe, R; Corris, P; Danesino, C; Eyries, M; Gall, H; Ghofrani, H-A; Gibbs, JSR; Girerd, B; Holden, S; Houweling, A; Howard, LS; Humbert, M; Kiely, DG; Kovacs, G; Lawrie, A; Ross, RVM; Moledina, S; Montani, D; Newnham, M; Olschewski, A; Olschewski, H; Peacock, A; Pepke-Zaba, J; Scelsi, L; Seeger, W; Soubrier, F; Suntharalingam, J; Toshner, M; Treacy, C; Trembath, R; Noordegraaf, AV; Waisfisz, Q; Wharton, J; Wilkins, MR; Wort, SJ; Graf, S; Louka, E; Roy, NB; Rao, A; Ancliff, P; Babbs, C; Layton, DM; Mead, AJ; O'Sullivan, J; Okoli, S; Saleem, M; Bierzynska, A; Diz, CB; Colby, E; Ekani, MN; Satchell, S; Fowler, T; Rendon, A; Scott, R; Smedley, D; Thomas, E; Caulfield, M; Abbs, S; Burrows, N; Chitre, M; Gattens, M; Gurnell, M; Kelsall, W; Poole, KES; Ross-Russell, R; Spasic-Boskovic, O; Twiss, P; Wagner, A; Banka, S; Clayton-Smith, J; Douzgou, S; Abulhoul, L; Aurora, P; Bockenhauer, D; Cleary, M; Dattani, M; Ganesan, V; Pilkington, C; Rahman, S; Shah, N; Wedderburn, L; Compton, CJ; Deshpande, C; Fassihi, H; Haque, E; Josifova, D; Mohammed, SN; Robert, L; Rose, SJ; Ruddy, DM; Sarkany, RN; Sayer, G; Shaw, AC; Campbell, C; Gibson, K; Koelling, N; Lester, T; Nemeth, AH; Palles, C; Patel, S; Sen, A; Taylor, J; Tomlinson, IP; Malka, S; Browning, AC; Burn, J; De Soyza, A; Graham, J; Pearce, S; Quinton, R; Schaefer, AM; Wilson, BT; Wright, M; Simpson, M; Syrris, P; Bradley, JR; Turro, E
Tomlinson, I 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science, vol. 364, no. 6442, pp. 749-+ . https://doi.org/10.1126/science.aau6520
NIHR BioResource-Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot, Wei, W, Tuna, S, Keogh, M J, Smith, K R, Aitman, T J, Beales, P L, Bennett, D L, Gale, D P, Bitner-Glindzicz, M A K, Black, G C, Brennan, P, Elliott, P, Flinter, F A, Floto, R A, Houlden, H, Irving, M, Koziell, A, Maher, E R, Markus, H S, Morrell, N W, Newman, W G, Roberts, I, Sayer, J A, Smith, K G C, Taylor, J C, Watkins, H, Webster, A R, Wilkie, A O M, Williamson, C, Ashford, S, Penkett, C J, Stirrups, K E, Rendon, A, Ouwehand, W H, Bradley, J R, Raymond, F L, Caulfield, M, Turro, E & Chinnery, P F 2019, 'Germline selection shapes human mitochondrial DNA diversity', Science (New York, N.Y.), vol. 364, no. 6442, pp. 1-13. https://doi.org/10.1126/science.aau6520
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Dyment, D; Filges, I; Helm, B; Hutchison, HT; Jeng, LJB; Laumonnier, F; Marshall, CR; Menzel, M; Parkash, S; Parker, MJ; The, DDD STUDY; Raymond, FL; Rideout, AL; Roberts, W; Rupps, R; Schanze, I; Schrander-Stumpel, CTRM; Speevak, MD; Stavropoulos, DJ; Stevens, SJC; Thomas, ERA; Toutain, A; Vergano, S; Weksberg, R; Scherer, SW; Vincent, JB; Chaudhry, A; Noor, A; Degagne, B; Baker, K; Bok, LA; Brady, AF; Chitayat, D; Chung, BHY; Cytrynbaum, C; Carter, MT
Clinical Genetics
Academic Journal
Castanet, M; Mallya, U; Agostini, M; Schoenmakers, E; Mitchell, C; Demuth, S; Raymond, FL; Schwabe, J; Gurnell, M; Chatterjee, VK
The Journal of Clinical Endocrinology & Metabolism. 95:4031-4036
Academic Journal
Thomas, S; Proudlock, FA; Sarvananthan, N; Roberts, EO; Awan, M; McLean, R; Surendran, M; Kumar, AS; Farooq, SJ; Degg, C; Gale, RP; Reinecke, RD; Woodruff, G; Langmann, A; Lindner, S; Jain, S; Tarpey, P; Raymond, FL; Gottlob, I
Brain. 131:1259-1267
Academic Journal
Fiorentino, A; Yu, J; Arno, G; Pontikos, N; Halford, S; Broadgate, S; Michaelides, M; Carss, KJ; Raymond, FL; Cheetham, ME; Webster, AR; Downes, SM; Hardcastle, AJ; NIHR-BioResource Rare Diseases Consortium; U.K. Inherited Retinal Dystrophy Consortium
Molecular vision. 24
Academic Journal
Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; Charles, P; Mendonça, C; Nava, C; Pfundt, R; Sanchis-Juan, A; van Bokhoven, H; van Essen, A; van Ravenswaaij-Arts, C; Aitman, T; Bennett, D; Caulfield, M; Chinnery, P; Gale, D; Koziell, A; Kuijpers, TW; Laffan, MA; Maher, E; Markus, HS; Morrell, NW; Ouwehand, WH; Perry, DJ; Raymond, FL; Roberts, I; Smith, KGC; Thrasher, A; Watkins, H; Williamson, C; Woods, G; Ashford, S; Bradley, JR; Fletcher, D; Hammerton, T; James, R; Kingston, N; Penkett, CJ; Stirrups, K; Veltman, M; Young, T; Brown, M; Clements-Brod, N; Davis, J; Dewhurst, E; Dolling, H; Erwood, M; Frary, A; Linger, R; Martin, JM; Papadia, S; Rehnstrom, K; Stark, H; Allsup, D; Austin, S; Bakchoul, T; Bariana, TK; Bolton-Maggs, P; Chalmers, E; Collins, J; Collins, P; Erber, WN; Everington, T; Favier, R; Freson, K; Furie, B; Gattens, M; Gebhart, J; Gomez, K; Greene, D; Greinacher, A; Gresele, P; Hart, D; Heemskerk, JWM; Henskens, Y; Kazmi, R; Keeling, D; Kelly, AM; Lambert, MP; Lentaigne, C; Liesner, R; Makris, M; Mangles, S; Mathias, M; Millar, CM; Mumford, A; Nurden, P; Payne, J; Pasi, J; Peerlinck, K; Revel-Vilk, S
Academic Journal
Jurkute, N; D'Esposito, F; Robson, AG; Pitceathly, RDS; Cordeiro, F; Raymond, FL; Moore, AT; Michaelides, M; Yu-Wai-Man, P; Webster, AR; Arno, G; Genomics England Research Consortium
Invest Ophthalmol Vis Sci
Investigative Ophthalmology & Visual Science, vol 62, iss 15
Investigative Ophthalmology & Visual Science, vol 62, iss 15
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[AR] Raymond, FL
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