المؤلفون: Themistocleous AC, Baskozos G, Blesneac I, Comini M, Megy K, Chong S, Deevi SVV, Ginsberg L, Gosal D, Hadden RDM, Horvath R, Mahdi-Rogers M, Manzur A, Mapeta R, Marshall A, Matthews E, McCarthy MI, Reilly MM, Renton T, Rice ASC, Vale TA, Van Zuydam N, Walker SM, Woods CG, Bennett DLH

المصدر: Brain Communications, 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/291073; https://eprints.ncl.ac.uk/fulltext.aspx?url=291073/DE078958-2ACB-4754-8069-5BBD67A1DF3C.pdf&pub_id=291073

الاتاحة: https://eprints.ncl.ac.uk/291073

المؤلفون: Themistocleous, AC, Baskozos, G, Blesneac, I, Comini, M, Megy, K, Chong, S, Deevi, SVV, Ginsberg, L, Gosal, D, Hadden, RDM, Horvath, R, Mahdi-Rogers, M, Manzur, A, Mapeta, R, Marshall, A, Matthews, E, McCarthy, MI, Reilly, MM, Renton, T, Rice, ASC, Vale, TA, van Zuydam, N, Walker, SM, Woods, CG, Bennett, DLH

المساهمون: BioResource, NIHR

Relation: https://ora.ox.ac.uk/objects/uuid:da15e595-aa30-482e-8c72-11a11a7efa52; https://doi.org/10.1093/braincomms/fcad037

الاتاحة: https://doi.org/10.1093/braincomms/fcad037
https://ora.ox.ac.uk/objects/uuid:da15e595-aa30-482e-8c72-11a11a7efa52

المؤلفون: Dhindsa, RS, Mattsson, J, Nag, A, Wang, Q, Wain, LV, Allen, R, Wigmore, EM, Ibanez, K, Vitsios, D, Deevi, SVV, Wasilewski, S, Karlsson, M, Lassi, G, Olsson, H, Muthas, D, Monkley, S, Mackay, A, Murray, L, Young, S, Haefliger, C, FinnGen Consortium, Maher, TM, Belvisi, MG, Jenkins, G, Molyneaux, PL, Platt, A, Petrovski, S

Relation: pii: 10.1038/s42003-021-01910-y; Dhindsa, R. S., Mattsson, J., Nag, A., Wang, Q., Wain, L. V., Allen, R., Wigmore, E. M., Ibanez, K., Vitsios, D., Deevi, S. V. V., Wasilewski, S., Karlsson, M., Lassi, G., Olsson, H., Muthas, D., Monkley, S., Mackay, A., Murray, L., Young, S. ,. Petrovski, S. (2021). Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis. Commun Biol, 4 (1), pp.392-. https://doi.org/10.1038/s42003-021-01910-y.; http://hdl.handle.net/11343/277915

الاتاحة: http://hdl.handle.net/11343/277915

المؤلفون: Wang, Q, Dhindsa, RS, Carss, K, Harper, AR, Nag, A, Tachmazidou, I, Vitsios, D, Deevi, SVV, Mackay, A, Muthas, D, Huhn, M, Monkley, S, Olsson, H, Wasilewski, S, Smith, KR, March, R, Platt, A, Haefliger, C, Petrovski, S

Relation: pii: 10.1038/s41586-021-03855-y; Wang, Q., Dhindsa, R. S., Carss, K., Harper, A. R., Nag, A., Tachmazidou, I., Vitsios, D., Deevi, S. V. V., Mackay, A., Muthas, D., Huhn, M., Monkley, S., Olsson, H., Wasilewski, S., Smith, K. R., March, R., Platt, A., Haefliger, C. & Petrovski, S. (2021). Rare variant contribution to human disease in 281,104 UK Biobank exomes. NATURE, 597 (7877), pp.527-+. https://doi.org/10.1038/s41586-021-03855-y.; http://hdl.handle.net/11343/315815

الاتاحة: http://hdl.handle.net/11343/315815

المؤلفون: Carss, KJ, Baranowska, AA, Armisen, J, Webb, TR, Hamby, SE, Premawardhana, D, Al-Hussaini, A, Wood, A, Wang, Q, Deevi, SVV, Vitsios, D, Lewis, SH, Kotecha, D, Bouatia-Naji, N, Hesselson, S, Iismaa, SE, Tarr, I, McGrath-Cadell, L, Muller, DW, Dunwoodie, SL, Fatkin, D, Graham, RM, Giannoulatou, E, Samani, NJ, Petrovski, S, Haefliger, C, Adlam, D

Relation: Carss, K. J., Baranowska, A. A., Armisen, J., Webb, T. R., Hamby, S. E., Premawardhana, D., Al-Hussaini, A., Wood, A., Wang, Q., Deevi, S. V. V., Vitsios, D., Lewis, S. H., Kotecha, D., Bouatia-Naji, N., Hesselson, S., Iismaa, S. E., Tarr, I., McGrath-Cadell, L., Muller, D. W. ,. Adlam, D. (2020). Spontaneous Coronary Artery Dissection Insights on Rare Genetic Variation From Genome Sequencing. CIRCULATION-GENOMIC AND PRECISION MEDICINE, 13 (6), pp.630-639. https://doi.org/10.1161/CIRCGEN.120.003030.; http://hdl.handle.net/11343/272474

الاتاحة: http://hdl.handle.net/11343/272474

المؤلفون: Thaventhiran, JED, Lango Allen, H, Burren, OS, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, JHR, Simeoni, I, Rivers, E, Maimaris, J, Penkett, CJ, Stephens, J, Deevi, SVV, Sanchis-Juan, A, Gleadall, NS, Thomas, MJ, Sargur, RB, Gordins, P, Baxendale, HE, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, RJ, Buckland, MS, Rayner-Matthews, PJ, Gilmour, KC, Samarghitean, C, Seneviratne, SL, Sansom, DM, Lynch, AG, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, SF, Karlsen, TH, Stirrups, KE, Cutler, AJ, Kumararatne, DS, Chandra, A, Edgar, JDM, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, AP, Goddard, S, Jolles, S, Schuetz, C, Boschann, F, Roberts, IAG

Relation: https://ora.ox.ac.uk/objects/uuid:6c257af6-1e1f-4309-bfde-606f2dc32402; https://doi.org/10.1038/s41586-020-2265-1

الاتاحة: https://doi.org/10.1038/s41586-020-2265-1
https://ora.ox.ac.uk/objects/uuid:6c257af6-1e1f-4309-bfde-606f2dc32402

المؤلفون: Bury, L, Megy, K, Stephens, JC, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, TK, Bonduel, M, Butta, NV, Collins, P, Curry, N, Deevi, SVV, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, MP, Linger, R, Mangles, S, Mapeta, R, Millar, CM, Penkett, C, Perry, DJ, Stirrups, KE, Turro, E, Westbury, SK, Wu, J, BioResource, Nihr, Gomez, K, Freson, K, Ouwehand, WH, Gresele, P, Simeoni, I

Relation: https://ora.ox.ac.uk/objects/uuid:4d120d15-3ef5-438e-8749-3e2505c7220a; https://doi.org/10.1002/humu.23927

الاتاحة: https://doi.org/10.1002/humu.23927
https://ora.ox.ac.uk/objects/uuid:4d120d15-3ef5-438e-8749-3e2505c7220a

المؤلفون: Turro, E, Astle, WJ, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, HL, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, OS, Downes, K, Haimel, M, Tuna, S, Deevi, SVV, Aitman, TJ, Bennett, DL, Calleja, P, Carss, K, Caulfield, MJ, Chinnery, PF, Dixon, PH, Gale, DP, James, R, Koziell, A, Laffan, MA, Levine, AP, Maher, ER, Markus, HS, Morales, J, Morrell, NW, Mumford, AD, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, NBA, Saleem, MA, Smith, KGC, Stark, H, Tan, RYY, Themistocleous, AC, Thrasher, AJ, Watkins, H, Webster, AR, Wilkins, MR, Williamson, C, Whitworth, J, Humphray, S, Bentley, DR, NIHR BioResource for the 100,000 Genomes Project, ., Kingston, N, Walker, N, Bradley, JR, Ashford, S, Penkett, CJ, Freson, K, Stirrups, KE, Raymond, FL, Ouwehand, WH

المصدر: Nature , 583 pp. 96-102. (2020)

مصطلحات موضوعية: Computational biology and bioinformatics, Disease genetics, Genetics research

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10103489/1/Gale_Whole-genome%20sequencing%20of%20patients%20with%20rare%20diseases%20in%20a%20national%20health%20system_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10103489/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10103489/1/Gale_Whole-genome%20sequencing%20of%20patients%20with%20rare%20diseases%20in%20a%20national%20health%20system_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10103489/

المؤلفون: 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

Relation: https://ora.ox.ac.uk/objects/uuid:af323912-359d-4fac-ab6c-9eb91fc0a7e6; https://doi.org/10.1007/s00134-019-05552-x

الاتاحة: https://doi.org/10.1007/s00134-019-05552-x
https://ora.ox.ac.uk/objects/uuid:af323912-359d-4fac-ab6c-9eb91fc0a7e6

المؤلفون: Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, KB, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RVM, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, AV, Waisfisz, Q, Walsworth, AK, Walter, RE, Wharton, J, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Tregouet, D-A, Prokopenko, I, Kittles, R, Graf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, Adlard, J, Ahmed, M, Aitman, T, Alachkar, H, Allsup, D, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W, Attwood, A, Babbs, C, Bakchoul, T, Bariana, T, Barwell, J, Bennett, D, Bentley, D, Bierzynska, A, Biss, T, Bogaard, H, Bourne, C, Boyce, S, Bradley, J, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, M, Buchan, R, Buckland, M, Bueser, T, Burns, S, Burren, O, Calleja, P, Carr-White, G, Carss, K, Casey, R, Caulfield, M, Chambers, J, Cheng, F, Chinnery, PF, Christian, M, Brod, NC, Coghlan, G, Colby, E, Cole, T, Collins, J, Collins, P, Colombo, C, Cook, S, Cook, T, Cooper, N, Corris, P, Crisp-Hihn, A, Curry, N, Daniels, M, Daugherty, L, Davis, J, Deevi, SVV, Dent, T, Dewhurst, E, Dixon, P, Downes, K, Drazyk, A, Drewe, E, Dutt, T, Edgar, D, Edwards, K, Egner, W, Erber, W, Erwood, M, Estiu, MC, Evans, G, Evans, DG, Everington, T, Favier, R, Fletcher, D, Fox, J, Frary, A, French, C, Freson, K, Frontini, M, Gale, D, Geoghegan, C, Gerighty, T, Gibbs, S, Gilmour, K, Goddard, S, Gomez, K, Gordins, P, Gosal, D, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R, Grozeva, D, Hackett, S, Hague, W, Hall, M, Hanson, H, Harkness, K, Harper, A, Harris, C, Hart, D, Hassan, A, Hayman, G, Henderson, A, Hoffmann, J, Horvath, R, Houweling, A, Howard, L, Hu, F, Hudson, G, Hughes, J, Huissoon, A, Humphray, S, Hunter, S, Hurles, M, Izatt, L, James, R, Johnson, S, Jolles, S, Jolley, J, Jurkute, N, Kasanicki, M, Kazkaz, H, Kazmi, R, Kelleher, P, Kiely, D, Kingston, N, Klima, R, Kostadima, M, Koziell, A, Kreuzhuber, R, Kuijpers, T, Kumar, A, Kumararatne, D, Kurian, M, Laffan, M, Lalloo, F, Lambert, M, Allen, HL, Layton, M, Lentaigne, C, Levine, A, Linger, R, Longhurst, H, Louka, E, Ross, RM, Madan, B, Maher, E, Maimaris, J, Mangles, S, Mapeta, R, Marchbank, K, Marks, S, Markus, HS, Marschall, H-U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M, Meacham, S, Mead, A, Megy, K, Mehta, S, Michaelides, M, Millar, C, Moore, T, Morrell, N, Mozere, M, Muir, K, Mumford, A, O'Sullivan, J, Obaji, S, Okoli, S, Ong, KR, Ormondroyd, E, Ouwehand, W, Papadia, S, Park, S-M, Parry, D, Paterson, J, Peacock, A, Peden, J, Peerlinck, K, Penkett, C, Petersen, R, Pyle, A, Rankin, S, Rao, A, Raymond, FL, Rayner-Matthews, P, Rees, C, Rendon, A, Renton, T, Rice, A, Richardson, S, Richter, A, Roberts, I, Roughley, C, Roy, N, Sadeghi-Alavijeh, O, Saleem, M, Samani, N, Sanchis-Juan, A, Sargur, R, Satchell, S, Savic, S, Schulman, S, Scully, M, Searle, C, Sewell, C, Seyres, D, Shapiro, S, Sharmardina, O, Shtoyerman, R, Sibson, K, Side, L, Simeoni, I, Simpson, M, Sivapalaratnam, S, Skytte, A-B, Smith, K, Smith, KGC, Snape, K, Staines, S, Staples, E, Stark, H, Stephens, J, Stirrups, K, Stock, S, Swietlik, E, Tait, RC, Talks, K, Tan, R, Thaventhiran, J, Themistocleous, A, Thomas, M, Thomson, K, Thrasher, A, Thys, C, Tischkowitz, M, Titterton, C, Toh, C-H, Toshner, M, Traylor, M, Treacy, C, Trembath, R, Tuna, S, Turek, W, Turro, E, Vale, T, Van Geet, C, Van Zuydam, N, Vazquez-Lopez, M, Von Ziegenweidt, J, Walker, S, Ware, J, Watkins, H, Watt, C, Webster, A, Wei, W, Welch, S, Wessels, J, Westbury, S, Westwood, J-P, Whitehorn, D, Whitworth, J, Williamson, C, Wong, E, Wood, N, Wood, Y, Woods, G, Woodward, E, Wort, S, Worth, A, Yates, K, Yong, P, Young, T, Yu, P, Yu-Wai-Man, P, Theuer, A, Malur, A, Williams, A, Dotson, A, Warden, A, Harrington, B, Vang, B, Ziemak, C, Casanova, N, Caskey, E, MacDonald, C, Rowley, C, Larimore, D, Brady, D, Tomer, D, Davis, A, Broach, D, Devereux, J, Lovato, E, Stratton, E, Turk, E, Jackson, E, Paciotti, G, Peichel, G, Birru, H, del Junco, H, Ingledue, R, Bruno, J, Drake, J, Marks, J, Pisarcik, J, Spears, J, Santiago, J, DeMartino, J, Beckmann, J, Palmer, J, Visnaw, K, Kennedy, K, Lewis, K, Miller-Reed, K, Hannon, K, McClain, K, Dillon, L, Olanipekun, L, Mendibles, L, Hawke, L, Brody, L, Durst, L, Andrews, M, Allahua, M, Stratoberdha, M, Lemma, M, Cope, M, Franzo, M, Feliz, N, Hawkes, N, Norwood, T, Wilson, O, Palmisciano, A, Gruhlke, P, Correa, P, Blake, R, Karnekar, R, Do, R, Rohwer, K, Ahmed, S, Schiltz, K, Scovel, P, Cordell, S, Heuerman, S, Ahmad, S, Szuberla, S, Roads, T, Iem, T, Mcgaha, T, Urban, T, Aston, V, Ayesh, W, Light, A, Arkon, A, Tavlarides, A, Anderson, A, Bindu, J, Boekwig, D, Singleton, D, Abrea, I, Lee, J, Ormiston, M, Whitman, R, Holy, R, Almeida-Peters, S, Igenoza, T, Farber, H, Reponen, A, Barve, M, Gygi, A, Winslow, C

المصدر: The Lancet Respiratory Medicine , 7 (3) pp. 227-238. (2019)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10071128/1/Rhodes_1-s2.0-S2213260018304090-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10071128/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10071128/1/Rhodes_1-s2.0-S2213260018304090-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10071128/

المؤلفون: 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

Relation: https://ora.ox.ac.uk/objects/uuid:bc80f094-4f35-4e40-ac4d-35fbcbbcf9dc; https://doi.org/10.1016/j.ajhg.2018.04.013

الاتاحة: https://doi.org/10.1016/j.ajhg.2018.04.013
https://ora.ox.ac.uk/objects/uuid:bc80f094-4f35-4e40-ac4d-35fbcbbcf9dc

المؤلفون: 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, Boycott, KM, Kernohan, KD, Dyack, S, Raymond, FL, 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, 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, Richards, M, Rondina, M, Roughley, C, Schulman, S, Schulze, H, Scully, M, Sivapalaratnam, S, Stubbs, M, Tait, RC, Talks, K, Thachil, J, Toh, C-H, Turro, E, Van Geet, C, De Vries, M, Warner, TQ, Watson, H, Westbury, S, Furnell, A, Mapeta, R, Rayner-Matthews, P, Simeoni, I, Staines, S, Stephens, J, Watt, C, Whitehorn, D, Attwood, A, Daugherty, L, Deevi, SVV, Halmagyi, C, Hu, F, Matser, V, Meacham, S, Megy, K, Shamardina, O, Titterton, C, Tuna, S, Yu, P, Von Ziegenweldt, J, Astle, W, Bleda, M, Gräf, S, Haimel, M, Lango-Allen, H, Richardson, S, Calleja, P, Rankin, S, Turek, W, Anderson, J, Bryson, C, Carmichael, J, McJannet, C, Stock, S, Allen, L, Ambegaonkar, G, Armstrong, R, Arno, G, Bitner-Glindzicz, M, Brady, A, Canham, N, Chitre, M, Clement, E, Clowes, V, Deegan, P, Deshpande, C, Doffinger, R, Firth, H, Flinter, F, French, C, Gardham, A, Ghali, N, Gissen, P, Grozeva, D, Henderson, R, Hensiek, A, Holden, S, Holder, M, Holder, S, Hurst, J, Josifova, D, Krishnakumar, D, Lees, M, Maclaren, R, Maw, A, Mehta, S, Michaelides, M, Moore, A, Murphy, E, Park, S-M, Parker, A, Patch, C, Paterson, J, Rankin, J, Reid, E, Rosser, E, Sandford, R, Santra, S, Scott, R, Sohal, A, Stein, P, Thomas, E, Thompson, D, Tischkowitz, M, Vogt, J, Wakeling, E, Wassmer, E, Webster, A, Ali, S, Boggard, HJ, Church, C, Coghlan, G, Cookson, V, Corris, PA, Creaser-Myers, A, Dacosta, R, Dormand, N, Eyries, M, Gall, H, Ghataorhe, PK, Ghio, S, Ghofrani, A, Gibbs, JSR, Girerd, B, Greenhalgh, A, Hadinnapola, C, Houweling, AC, Humbert, M, Veld, AH, Kennedy, F, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Machado, R, Masati, L, Meehan, S, Moledina, S, Montani, D, Othman, S, Peacock, AJ, Pepke-Zaba, J, Pollock, V, Polwarth, G, Ranganathan, L, Rhodes, CJ, Rue-Albrecht, K, Schotte, G, Shipley, D, Soubrier, F, Southgate, L, Scelsi, L, Suntharalingam, J, Tan, Y, Toshner, M, Treacy, CM, Trembath, R, Noordegraaf, AV, Walker, S, Wanjiku, I, Wharton, J, Wilkins, M, Wort, SJ, Yates, K, Alachkar, H, Antrobus, R, Arumugakani, G, Bacchelli, C, Baxendale, H, Bethune, C, Bibi, S, Booth, C, Browning, M, Burns, S, Chandra, A, Cooper, N, Davies, S, Devlin, L, Drewe, E, Edgar, D, Egner, W, Ghurye, R, Gilmour, K, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Harper, L, Hayman, G, Herwadkar, A, Huissoon, A, Jolles, S, Kelleher, P, Kumararatne, D, Lear, S, Longhurst, H, Lorenzo, L, Maimaris, J, Manson, A, McDermott, E, Murng, S, Nejentsev, S, Noorani, S, Oksenhendler, E, Ponsford, M, Qasim, W, Quinti, I, Richter, A, Samarghitean, C, Sargur, R, Savic, S, Seneviratne, S, Sewell, C, Staples, E, Stauss, H, Thaventhiran, J, Thomas, M, Welch, S, Willcocks, L, Yeatman, N, Yong, P, Ancliff, P, Babbs, C, Layton, M, Louka, E, McGowan, S, Mead, A, Roy, N, Chambers, J, Dixon, P, Estiu, C, Hague, B, Marschall, H-U, Simpson, M, Chong, S, Emmerson, I, Ginsberg, L, Gosal, D, Hadden, R, Horvath, R, Mahdi-Rogers, M, Manzur, A, Marshall, A, Matthews, E, McCarthy, M, Reilly, M, Renton, T, Rice, A, Themistocleous, A, Vale, T, Van Zuydam, N, Ormondroyd, L, Hudson, G, Wei, W, Man, P, Whitworth, J, Afzal, M, Colby, E, Saleem, M, Alavijeh, OS, Cook, HT, Johnson, S, Levine, AP, Wong, EKS, Tan, R, Mackenzie, A, Majewski, J, Brudno, M, Bulman, D, Dyment, D

Relation: https://ora.ox.ac.uk/objects/uuid:1ae68034-4aff-4784-9e83-ec80662de0ea; https://doi.org/10.1016/j.ajhg.2018.06.001

الاتاحة: https://doi.org/10.1016/j.ajhg.2018.06.001
https://ora.ox.ac.uk/objects/uuid:1ae68034-4aff-4784-9e83-ec80662de0ea

المؤلفون: Farmery, JHR, Smith, ML, Lynch, AG, Huissoon, A, Furnell, A, Mead, A, Levine, AP, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, AJ, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, in't Veld, AH, Maw, A, Kelly, AM, Moore, A, Noordegraaf, AV, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, AC, Girerd, B, Furie, B, Treacy, CM, Millar, CM, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Van Geet, C, Babbs, C, Bryson, C, Penkett, CJ, Rhodes, CJ, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, DG, Gosal, D, Perry, DJ, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, EKS, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, FL, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, HT, Alachkar, H, Allen, HL, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, HJ, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, HS, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, JSR, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, JM, Martin, J, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, JWM, Gebhart, J, Davis, J, Pasi, J, Bradley, JR, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, KGC, Carss, K, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, MA, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, MP, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Van Zuydam, N, Kingston, N, Ghali, N, Cooper, N, Morrell, NW, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, OS, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Yu-Wai-Man, P, Corris, PA, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, PK, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, RC, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, MackenzieRoss, RV, Henderson, R, MacLaren, R, James, R, Ghurye, R, DaCosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Deevi, SVV, Graf, S, Ghio, S, Wort, SJ, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, TW, Bariana, TK, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, TQ, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, WN, Ouwehand, WH, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y

المصدر: Scientific Reports , 8 , Article 13376. (2018)

مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10056800/1/Bacchelli%20s41598-018-31524-0.pdf; https://discovery.ucl.ac.uk/id/eprint/10056800/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10056800/1/Bacchelli%20s41598-018-31524-0.pdf
https://discovery.ucl.ac.uk/id/eprint/10056800/

المؤلفون: Lawless, D, Geier, CB, Farmer, JR, Lango, HA, Thwaites, D, Atschekzei, F, Brown, M, Buchbinder, D, Burns, SO, Butte, MJ, Csomos, K, Deevi, SVV, Egner, W, Ehl, S, Eibl, MM, Fadugba, O, Foldvari, Z, Green, DM, Henrickson, SE, Holland, SM, John, T, Klemann, C, Kuijpers, TW, Moreira, F, Piller, A, Rayner-Matthews, P, Romberg, ND, Sargur, R, Schmidt, RE, Schröder, C, Schuetz, C, Sharapova, SO, Smith, KGC, Sogkas, G, Speckmann, C, Stirrups, K, Thrasher, AJ, Wolf, HM, Notarangelo, LD, Anwar, R, Boyes, J, Ujhazi, B, NIHR BioResource - Rare Diseases Consortium, ., Thaventhiran, J, Walter, JE, Savic, S

المصدر: Journal of Allergy and Clinical Immunology , 141 (6) pp. 2303-2306. (2018)

مصطلحات موضوعية: RAG1, RAG2, fibrosis, inflammatory lung disease, primary immunodeficiency

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10044704/7/Lawless_1-s2.0-S0091674918302926-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10044704/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10044704/7/Lawless_1-s2.0-S0091674918302926-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10044704/

المؤلفون: Thomson, KL, Ormondroyd, E, Harper, AR, Dent, T, McGuire, K, Baksi, J, Blair, E, Brennan, P, Buchan, R, Bueser, T, Campbell, C, Carr-White, G, Cook, S, Daniels, M, Deevi, SVV, Goodship, J, Hayesmoore, JBG, Henderson, A, Lamb, T, Prasad, S, Rayner-Matthews, P, Robert, L, Sneddon, L, Stark, H, Walsh, R, Ware, JS, Farrall, M, Watkins, HC, NIHR BioResource – Rare Diseases Consortium

المساهمون: Wellcome Trust, British Heart Foundation

المصدر: 1584 ; 1576

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, HCM, genetic testing, variant interpretation, VUS, evidence-based, TASK-FORCE, MUTATIONS, VARIANTS, DISEASE, GUIDELINES, RARE, NIHR BioResource – Rare Diseases Consortium, 0604 Genetics, 1103 Clinical Sciences

جغرافية الموضوع: United States

Relation: Genetics in Medicine; http://hdl.handle.net/10044/1/66820; https://dx.doi.org/10.1038/s41436-018-0375-z; 107469/Z/15/Z; SP/10/10/28431

الاتاحة: http://hdl.handle.net/10044/1/66820
https://doi.org/10.1038/s41436-018-0375-z

المؤلفون: 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

المصدر: The American Journal of Human Genetics , 100 (2) pp. 334-342. (2017)

مصطلحات موضوعية: Retinitis pigmentosa, inherited retinal dystrophy, retinal degeneration, ARHGEF18, p114RhoGEF, apicobasal polarity

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1538878/1/Arno%20et%20al_AJHG_2017.pdf; https://discovery.ucl.ac.uk/id/eprint/1538878/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1538878/1/Arno%20et%20al_AJHG_2017.pdf
https://discovery.ucl.ac.uk/id/eprint/1538878/

المؤلفون: S. Cohen, Adam Platt, Gundula Povysil, Jingya Wang, Daniel Muthas, Michael Huhn, Deevi Svv, Yoichiro Ohne, Quanli Wang, A. Mackay, Glenda Lassi, Dillmann I, Sophia R. Cameron-Christie, M.L. Gavala, Bastian R. Angermann, Graham Belfield, Henric Olsson, Slavé Petrovski, Simon Young, Lindgren J

مصطلحات موضوعية: Genetics, medicine.anatomical_structure, Genetic predisposition, medicine, Eosinophil, Biology, medicine.disease, Allele frequency, Biobank, Gene, Exome, Genetic architecture, Asthma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3246d8cfdd762750bf56f18643a89bb1
https://doi.org/10.1101/2020.12.10.419663

المؤلفون: Lango Allen H, Rae W, Greene D, Staples E, Zhang Z, Rivers E, Penkett CJ, Stephens J, Deevi SVV, Thomas MJ, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Gilmour KC, Seneviratne SL, Sansom DM, Lynch AG, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Cooper N, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F, Abbs S, Adhya Z, Adlard J, Afzal M, Ahmed I, Ahmed M, Ahmed S, Aitman TJ, Alachkar H, Alamelu J, Alikhan R, Allen CE, Allen L, Allsup DJ, Alvi A, Ambegaonkar G, Anantharachagan A, Ancliff P, Anderson J, Antrobus R, Armstrong R, Arno G, Arumugakani G, Arya R, Ashford S, Astle WJ, Attwood A, Austin S, Aydinok Y, Ayub W, Babbs C, Bacchelli C, Baglin T, Bakchoul T, Bariana TK, Barratt J, Barwell J, Baski J, Bates RW, Batista J, Baxendale HE, Baynam G, Bennett DL, Bethune C, Bhatnagar N, Bibi S, Bierzynska A, Biss T, Bitner-Glindzicz MAK, Bleda M, Blesneac I, Boardman B, Boddana P, Bogaard HJ, Booth C, Boyce S, Bradley JR, Brady A, Breen G, Brennan P, Brewer C, Briley A, Brown R, Browning MJ, Brownlie M, Bryson CJ, Buchan RJ, Buck J, Bueser T, Diz CB, Burns SO, Burren OS, Calleja P, Carmichael J, Carr-White G, Carss KJ, Casey R, Chalmers E, Chambers J, Chan MMY, Chan MV, Cheng F, Chinn IK, Chinnery PF, Chitre M, Chong S, Christian MT, Church C, Clement EM, Brod NC, Clifford H, Clowes VE, Coghlan G, Colby E, Cole TRP, Collins JH, Collins PW, Condliffe R, Cook HT, Cook S, Cookson V, Corris PA, Creaser-Myers A, Crisp-Hihn A, Curry NS, Da Costa R, Danesino C, Daniels MJ, Darby D, Daugherty LC, Davies EG, Davies S, Davis J, de Bree GJ, Deacock S, Deegan PB, Dempster J, Dent T, Deshpande C, Devlin LA, Dewhurst EF, Dixit AK, Dixon PH, Doffinger R, Dolling H, Dormand N, Downes K, Drazyk AM, Drewe E, Duarte D, Dutt T, Edwards KE, Egner W, Ekani MN, El-Shanawany T, Elkhalifa S, Elston T, Emmerson I, Erber WN, Erwood M, Estiu MC, Evans DG, Evans G, Everington T, Eyries M, Farmery JHR, Favier R, Firth HV, Fitzpatrick MM, Fletcher D, Flinter FA, Fox JC, Frary AJ, French CE, Freson K, Frontini M, Furie B, Gale DP, Gall HJ, Gardham A, Gaspar HB, Gattens M, Ghali N, Ghataorhe PK, Ghio S, Ghofrani H-A, Ghurye R, Gibbs JSR, Gilbert RD, Girerd B, Girling JC, Gissen P, Gleadall NS, Gordins P, Gorman KM, Gosal D, Graf S, Grassi L, Greenhalgh AJ, Greenhalgh L, Greinacher A, Gresele P, Griffiths PG, Griffiths S, Grigoriadou S, Grozeva D, Hackett SJ, Hadden RDM, Hadinnapola C, Hague R, Hague WM, Haimel M, Hall M, Halmagyi C, Hammerton T, Hanson HL, Harkness K, Harper AR, Harper L, Harris C, Harrison C, Hart D, Hassan A, Hayman G, Heemskerk JWM, Hegde S, Henderson A, Henderson RH, Hensiek A, Henskens YMC, Herwadkar A, Hodgson J, Hoffman J, Holden S, Holder M, Horvath R, Houlden H, Houweling AC, Howard LS, Hu F, Hudson G, Hughes S, Huis in 't Veld AE, Humbert M, Hurles ME, Hurst JA, Irvine V, Izatt L, James R, Jeevaratnam P, Johnson M, Johnson SA, Jolley JD, Jones B, Jones J, Josifova D, Jurkute N, Karim YM, Karoshi MA, Kasanicki MA, Kazkaz H, Kazmi R, Keeling D, Kelleher P, Kelly AM, Kempster C, Kennedy F, Kiani S, Kiely DG, Kingston N, Kinsey S, Klein N, Klima R, Knox E, Kostadima MA, Kovacs G, Koziell AB, Kreuzhuber R, Krishnakumar D, Kuijpers TW, Kumar A, Kurian MA, Laffan J, Laffan MA, Lalloo F, Lambert MP, Lawman SHA, Lawrie A, Layton DM, Lear SE, Lees MM, Lentaigne C, Levine AP, Lewington AJP, Li W, Liesner R, Liu B, Longhurst H, Lorenzo LE, Louka E, Hadeler SL, Lyons PA, Macdougall M, Machado RD, MacKenzie Ross RV, Mackillop LH, MacLaren R, Madan B, Magee L, Mahdi-Rogers M, Maher ER, Maimaris J, Makris M, Mangles S, Manson A, Manzur A, Mapeta R, Marchbank KJ, Mark PB, Marks S, Markus HS, Marschall H-U, Marshall A, Martin JM, Masati L, Mathias M, Matser V, Matthews EL, Maw A, Maxwell H, McAlinden P, McCarthy MI, McDermott EM, McGowan SJ, McJannet C, McKinney H, Meacham S, Mead AJ, Castello IM, Meehan S, Megy K, Mehta S, Mercer CL, Michaelides M, Michell AC, Milford D, Millar CM, Millar H, Mistry A, Moenen F, Moledina S, Montani D, Moore AT, Moore J, Morrell NW, Morrisson V, Mozere M, Muir KW, Mumford AD, Murng SHK, Nasir I, Nejentsev S, Newnham M, Ng J, Ngoh A, Noorani S, Noori M, Nurden P, O'Sullivan JM, Obaji S, Okoli S, Oksenhendler E, Olschewski A, Olschewski H, Ong ACM, Ong KR, Oram H, Ormondroyd E, Othman S, Ouwehand WH, Pantazis A, Papadia S, Papandreou A, Park S-M, Parker APJ, Parry D, Parsons G, Pasi KJ, Paterson J, Payne JH, Peacock AJ, Peerlinck K, Pepke-Zaba J, Perry D, Petersen R, Piechowski-Jozwiak B, Pinto F, Polwarth GJ, Ponsford MJ, Prasad S, Prokopenko I, Psaila B, Pyle A, Qasim W, Quinn E, Quinti I, Raina S, Ranganathan L, Rankin J, Rankin S, Rao A, Raymond FL, Rayner-Matthews PJ, Rehnstrom K, Reid E, Reilly MM, Renton T, Revel-Vilk S, Rhodes CJ, Rice ASC, Richards EE, Richards M, Richardson S, Richter A, Robert L, Roberts I, Rondina MT, Rosser E, Rothwell P, Roughley C, Roy NB, Rue-Albrecht K, Sadeghi-Alavijeh O, Saleem MA, Salmon RM, Samani NJ, Samarghitean C, Sambrook JG, Sanchis-Juan A, Sandford R, Santra S, Sargur RB, Satchell SC, Savic S, Scelsi L, Schotte G, Schulman S, Schulze H, Scott R, Scully M, Searle C, Seeger W, Sewell WAC, Seyres D, Shackley F, Shamardina O, Shapiro SE, Sharma P, Shehata HA, Shipley D, Shtoyerman R, Sibson K, Side L, Simeoni I, Simpson M, Sims MC, Sinha MD, Sivapalaratnam S, Skytte A-B, Smith KGC, Snape K, Sneddon L, Sohal A, Soubrier F, Southgate L, Southwood M, Splitt M, Staines S, Stark H, Stauss H, Steele CL, Stein D, Stein PE, Stock S, Stubbs MJ, Suntharalingam J, Swietlik EM, Symington E, Tait RC, Talks K, Tan RYY, Taylor GB, Thachil J, Thaventhiran JED, Themistocleous AC, Thomas DC, Thomas E, Thomas P, Thompson DA, Thomson K, Thrasher AJ, Thys C, Tilly T, Tischkowitz M, Titterton C, Todd JA, Toh C-H, Tool ATJ, Toshner MR, Traylor M, Treacy CM, Treadaway P, Trembath RC, Trippier S, Tuna S, Turek W, Turro E, Upton PD, Urniaz R, Vale T, Van Geet C, van Zuydam N, Vandersteen AM, Vazquez-Lopez M, Veltman MWM, Vogt J, von Ziegenweidt J, Noordegraaf AV, Vora A, Vries MJA, Wakeling EL, Walker N, Walker SM, Walsh R, Wanjiku I, Ware JS, Warner TQ, Wassmer E, Watkins H, Watson HG, Watt C, Waugh D, Webb N, Webster AR, Wei W, Welch A, Welch SB, Werring D, Wessels J, Westbury SK, Westwood J-PW, Wharton J, Whitehorn D, Whitworth J, Wilkins MR, Willcocks L, Williams DJ, Williamson C, Wong EKS, Wood N, Wood Y, Woods CG, Woodward ER, Workman S, Wort SJ, Yates K, Yeatman N, Yong PFK, Young T, Yu P, Yu-Wai-Man P, Zlamalova E

المصدر: Nature, 2020

Relation: https://eprints.ncl.ac.uk/268264

الاتاحة: https://eprints.ncl.ac.uk/268264

المؤلفون: Turro E, Astle WJ, Graf S, Greene D, Allen HL, Frontini M, Stephens J, Downes K, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Caulfield MJ, Chinnery PF, Dixon PH, James R, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Tan RYY, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Abbs S, Abulhoul L, Adlard J, Ahmed M, Alachkar H, Allsup DJ, Almeida-King J, Ancliff P, Antrobus R, Armstrong R, Arno G, Ashford S, Attwood A, Aurora P, Babbs C, Bacchelli C, Bakchoul T, Banka S, Bariana T, Barwell J, Batista J, Baxendale HE, Beales PL, Bentley DR, Bierzynska A, Biss T, Bitner-Glindzicz MAK, Black GC, Bleda M, Blesneac I, Bockenhauer D, Bogaard H, Bourne CJ, Boyce S, Bradley JR, Bragin E, Breen G, Brennan P, Brewer C, Brown M, Browning AC, Browning MJ, Buchan RJ, Buckland MS, Bueser T, Diz CB, Burn J, Burns SO, Burren OS, Burrows N, Campbell C, Carr-White G, Carss K, Casey R, Chambers J, Chan MMY, Cheah C, Cheng F, Chitre M, Christian MT, Church C, Clayton-Smith J, Cleary M, Brod NC, Coghlan G, Colby E, Cole TRP, Collins J, Collins PW, Colombo C, Compton CJ, Condliffe R, Cook S, Cook HT, Cooper N, Corris PA, Furnell A, Cunningham F, Curry NS, Cutler AJ, Daniels MJ, Dattani M, Daugherty LC, Davis J, De Soyza A, Dent T, Deshpande C, Dewhurst EF, Douzgou S, Drazyk AM, Drewe E, Duarte D, Dutt T, Edgar JDM, Edwards K, Egner W, Ekani MN, Elliott P, Erber WN, Erwood M, Estiu MC, Evans DG, Evans G, Everington T, Eyries M, Fassihi H, Favier R, Findhammer J, Fletcher D, Flinter FA, Floto RA, Fowler T, Fox J, Frary AJ, French CE, Freson K, Gale DP, Gall H, Ganesan V, Gattens M, Geoghegan C, Gerighty TSA, Gharavi AG, Ghio S, Ghofrani H-A, Gibbs JSR, Gibson K, Gilmour KC, Girerd B, Gleadall NS, Goddard S, Goldstein DB, Gomez K, Gordins P, Gosal D, Graham J, Grassi L, Greenhalgh L, Greinacher A, Gresele P, Griffiths P, Grigoriadou S, Grocock RJ, Grozeva D, Gurnell M, Hackett S, Hadinnapola C, Hague WM, Hague R, Haimel M, Hall M, Hanson HL, Haque E, Harkness K, Harper AR, Harris CL, Hart D, Hassan A, Hayman G, Henderson A, Herwadkar A, Hoffman J, Holden S, Horvath R, Houlden H, Houweling AC, Howard LS, Hu F, Hudson G, Hughes J, Huissoon AP, Humbert M, Hunter S, Hurles M, Irving M, Izatt L, Johnson SA, Jolles S, Jolley J, Josifova D, Jurkute N, Karten T, Karten J, Kasanicki MA, Kazkaz H, Kazmi R, Kelleher P, Kelly AM, Kelsall W, Kempster C, Kiely DG, Kingston N, Klima R, Koelling N, Kostadima M, Kovacs G, Koziell A, Kreuzhuber R, Kuijpers TW, Kumar A, Kumararatne D, Kurian MA, Lalloo F, Lambert M, Lawrie A, Layton DM, Lench N, Lentaigne C, Lester T, Linger R, Longhurst H, Lorenzo LE, Louka E, Lyons PA, Machado RD, MacKenzie Ross RV, Madan B, Maimaris J, Malka S, Mangles S, Mapeta R, Marchbank KJ, Marks S, Marschall H-U, Marshall A, Martin J, Mathias M, Matthews E, Maxwell H, McAlinden P, McCarthy MI, McKinney H, McMahon A, Meacham S, Mead AJ, Castello IM, Megy K, Mehta SG, Michaelides M, Millar C, Mohammed SN, Moledina S, Montani D, Moore AT, Mozere M, Muir KW, Nemeth AH, Newman WG, Newnham M, Noorani S, Nurden P, O'Sullivan J, Obaji S, Odhams C, Okoli S, Olschewski A, Olschewski H, Ong KR, Oram SH, Ormondroyd E, Ouwehand WH, Palles C, Papadia S, Park S-M, Parry D, Patel S, Paterson J, Peacock A, Pearce SH, Peden J, Peerlinck K, Pepke-Zaba J, Petersen R, Pilkington C, Poole KES, Prathalingam R, Psaila B, Pyle A, Quinton R, Rahman S, Rao A, Raymond FL, Rayner-Matthews PJ, Rees C, Renton T, Rhodes CJ, Rice ASC, Richter A, Robert L, Rogers A, Rose SJ, Ross-Russell R, Roughley C, Ruddy DM, Sadeghi-Alavijeh O, Samani N, Samarghitean C, Sanchis-Juan A, Sargur RB, Sarkany RN, Satchell S, Savic S, Sayer JA, Sayer G, Scelsi L, Schaefer AM, Schulman S, Scott R, Scully M, Searle C, Seeger W, Sen A, Sewell WAC, Seyres D, Shah N, Shamardina O, Shapiro SE, Shaw AC, Short PJ, Sibson K, Side L, Simeoni I, Simpson MA, Sims MC, Sivapalaratnam S, Smedley D, Smith KR, Snape K, Soranzo N, Soubrier F, Southgate L, Spasic-Boskovic O, Staines S, Staples E, Stark H, Steward C, Stirrups KE, Stuckey A, Suntharalingam J, Swietlik EM, Syrris P, Tait RC, Talks K, Tate K, Taylor JM, Taylor JC, Thaventhiran JE, Themistocleous AC, Thomas E, Thomas D, Thomas MJ, Thomas P, Thomson K, Threadgold G, Thys C, Tilly T, Tischkowitz M, Titterton C, Todd JA, Toh C-H, Tolhuis B, Tomlinson IP, Toshner M, Traylor M, Treacy C, Treadaway P, Trembath R, Turek W, Twiss P, Vale T, Geet CV, Zuydam N, Vandekuilen M, Vandersteen AM, Vazquez-Lopez M, von Ziegenweidt J, Noordegraaf AV, Wagner A, Waisfisz Q, Walker SM, Walker N, Walter K, Ware JS, Watt C, Wedderburn L, Wei W, Welch SB, Wessels J, Westbury SK, Westwood J-P, Wharton J, Whitehorn D, Wilkie AOM, Wilson BT, Wong EKS, Wood N, Wood Y, Woods CG, Woodward ER, Wort SJ, Worth A, Wright M, Yates K, Yong PFK, Young T, Yu P, Yu-Wai-Man P, Zlamalova E, Penkett CJ

المصدر: Nature, 2020

Relation: https://eprints.ncl.ac.uk/267825

الاتاحة: https://eprints.ncl.ac.uk/267825

المؤلفون: 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

المساهمون: ARD - Amsterdam Reproduction and Development, AII - Inflammatory diseases, Paediatric Infectious Diseases / Rheumatology / Immunology, Medical Research Council (MRC), Wellcome Trust, Wei, Wei [0000-0002-2945-3543], Tuna, Salih [0000-0003-3606-4367], Smith, Katherine R [0000-0002-0329-5938], Beales, Phil L [0000-0002-9164-9782], Bennett, David L [0000-0002-7996-2696], Gale, Daniel P [0000-0002-9170-1579], Brennan, Paul [0000-0003-1128-6254], Elliott, Perry [0000-0003-3383-3984], Floto, R Andres [0000-0002-2188-5659], Houlden, Henry [0000-0002-2866-7777], Koziell, Ania [0000-0003-4882-0246], Maher, Eamonn R [0000-0002-6226-6918], Markus, Hugh S [0000-0002-9794-5996], Morrell, Nicholas W [0000-0001-5700-9792], Newman, William G [0000-0002-6382-4678], Sayer, John A [0000-0003-1881-3782], Smith, Kenneth GC [0000-0003-3829-4326], Taylor, Jenny C [0000-0003-3602-5704], Watkins, Hugh [0000-0002-5287-9016], Webster, Andrew R [0000-0001-6915-9560], Wilkie, Andrew OM [0000-0002-2972-5481], Penkett, Christopher J [0000-0003-4006-7261], Stirrups, Kathleen E [0000-0002-6823-3252], Rendon, Augusto [0000-0001-8994-0039], Bradley, John R [0000-0002-7774-8805], Turro, Ernest [0000-0002-1820-6563], Chinnery, Patrick F [0000-0002-7065-6617], Apollo - University of Cambridge Repository

المصدر: NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot & Daniels, M J 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science (New York, N.Y.), vol. 364, no. 6442 . https://doi.org/10.1126/science.aau6520
Science, 364(6442). American Association for the Advancement of Science
Science
Tomlinson, I 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science, vol. 364, no. 6442, pp. 749-+ . https://doi.org/10.1126/science.aau6520

مصطلحات موضوعية: 0301 basic medicine, Non-Mendelian inheritance, Genome, Mitochondrial/genetics, DNA, Mitochondrial/genetics, 0302 clinical medicine, Ovum/growth & development, MTDNA, TRANSCRIPTION, Genetics, education.field_of_study, Multidisciplinary, NIHR BioResource–Rare Diseases, ASSOCIATION, Heteroplasmy, Mitochondrial, Multidisciplinary Sciences, GENOME, REPLACEMENT, Science & Technology - Other Topics, Female, Maternal Inheritance, Mitochondrial DNA, General Science & Technology, Genetic genealogy, Population, Biology, Human mitochondrial genetics, SEQUENCE, DNA, Mitochondrial, 03 medical and health sciences, Genetic, 100,000 Genomes Project–Rare Diseases Pilot, Genetic variation, MD Multidisciplinary, Humans, Selection, Genetic, education, Selection, Ovum, Science & Technology, MUTATIONS, Genetic Variation, DNA, LEIGH-DISEASE, 030104 developmental biology, REPLICATION, Genome, Mitochondrial, HETEROPLASMY, 030217 neurology & neurosurgery

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd0acfee6b4573c8d6320d0057b56790