المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079

المؤلفون: Bengani, H, Handley, M, Alvi, M, Ibitoye, R, Lees, M, Lynch, SA, Lam, W, Fannemel, M, Nordgren, A, Malmgren, H, Kvarnung, M, Mehta, S, McKee, S, Whiteford, M, Stewart, F, Connell, F, Clayton-Smith, J, Mansour, S, Mohammed, S, Fryer, A, Morton, J, Grozeva, D, Asam, T, Moore, D, Sifrim, A, McRae, J, Hurles, ME, Firth, HV, Raymond, FL, Kini, U, Nellaker, C, FitzPatrick, DR

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 19(8):900-908

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136326802

المؤلفون: Copeland H, Low KJ, Wynn SL, Ahmed A, Arthur V, Balasubramanian M, Bennett K, Berg J, Bertoli M, Bryson L, Bucknall C, Campbell J, Chandler K, Chauhan J, Clarkson A, Coles R, Conti H, Costello P, Coupar T, Craig A, Dean J, Dillon A, Dixit A, Drew K, Eason J, Forzano F, Foulds N, Gardham A, Ghali N, Green A, Hanna W, Harrison R, Hegarty M, Higgs J, Holder M, Irving R, Jain V, Johnson K, Jolley R, Jones WD, Jones G, Joss S, Kalinauskiene R, Kanani F, Kavanagh K, Khan M, Khan N, Kivuva E, Lahiri N, Lakhani N, Lampe A, Lynch SA, Mansour S, Marsden A, Massey H, McKee S, Mohammed S, Naik S, Nesarajah M, Newbury-Ecob R, Osborne F, Parker MJ, Patterson J, Pottinger C, Prapa M, Prescott K, Quinn S, Radley JA, Robart S, Ross A, Rosti G, Sansbury FH, Sarkar A, Searle C, Shannon N, Shears D, Smithson S, Stewart H, Suri M, Tadros S, Theobald R, Thomas R, Tsoulaki O, Vasudevan P, Rodriguez MV, Vittery E, Whyte S, Woods E, Wright T, Zocche D, Firth HV, Wright CF

المصدر: Genetics in Medicine Open, January 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/303312; https://eprints.ncl.ac.uk/fulltext.aspx?url=303312/FE4F66C2-D76C-488E-855C-FE47F8F29DD3.pdf&pub_id=303312

الاتاحة: https://eprints.ncl.ac.uk/303312

المؤلفون: Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakstein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Cady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanusova K, He YO, Hegde H, Helbig I, Holasova K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai M-C, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulova M, Millett CE, Mitchell PB, Moslerova V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Cajbikova NN, Nurnberger JI, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlckova M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yuksel Z, Zandi PP, Zankl A, Zarante I, Zvolsky M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, Kohler S, Haendel MA, Robinson PN

المصدر: Nucleic Acids Research, 5 January 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/296284; https://eprints.ncl.ac.uk/fulltext.aspx?url=296284/715F87BA-90BC-4041-B6C2-A1BE5E3DD824.pdf&pub_id=296284

الاتاحة: https://eprints.ncl.ac.uk/296284

المؤلفون: Li, Y, Cacciottolo, TM, Yin, N, He, Y, Liu, H, Yang, Y, Henning, E, Keogh, JM, Lawler, K, Mendes de Oliveira, E, Gardner, EJ, Kentistou, KA, Laouris, P, Bounds, R, Ong, KK, Perry, JRB, Barroso, I, Tu, L, Bean, JC, Yu, M, Conde, KM, Wang, M, Ginnard, O, Fang, X, Tong, L, Han, J, Darwich, T, Williams, KW, Wang, C, Joss, S, Firth, HV, Xu, Y, Farooqi, IS

Relation: https://www.ukbiobank.ac.uk.; Cell; orcid:0000-0001-5800-4520 (Barroso, Inês); Published online 2 July 2024; https://doi.org/10.1016/j.cell.2024.06.001; http://hdl.handle.net/10871/136583

الاتاحة: http://hdl.handle.net/10871/136583
https://doi.org/10.1016/j.cell.2024.06.001

المؤلفون: Wigdor, EM, Samocha, KE, Eberhardt, RY, Chundru, VK, Firth, HV, Wright, CF, Hurles, ME, Martin, HC

Relation: https://www.ncbi.nlm.nih.gov/pubmed/38622173; orcid:0000-0002-6348-5565 (Chundru, V Kartik); orcid:0000-0003-2958-5076 (Wright, Caroline F); Vol. 14, No. 1, article 8708; https://doi.org/10.1038/s41598-024-58894-y; HICF-1009-003; WT098051; 220540/Z/20/A; http://hdl.handle.net/10871/136368; Scientific Reports

الاتاحة: http://hdl.handle.net/10871/136368
https://doi.org/10.1038/s41598-024-58894-y

المؤلفون: Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danacek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV

مصطلحات موضوعية: genomic medicine, rare disease

Relation: orcid:0000-0003-2958-5076 (Wright, Caroline); Published online 12 April 2023; HICF-1009-003; WT098051; WT223718/Z/21/Z; http://hdl.handle.net/10871/132594; New England Journal of Medicine

الاتاحة: http://hdl.handle.net/10871/132594
https://doi.org/10.1056/NEJMoa2209046

المؤلفون: DiStefano, MT, Goehringer, S, Babb, L, Alkuraya, FS, Amberger, J, Amin, M, Austin-Tse, C, Balzotti, M, Berg, JS, Birney, E, Bocchini, C, Bruford, EA, Coffey, AJ, Collins, H, Cunningham, F, Daugherty, LC, Einhorn, Y, Firth, HV, Fitzpatrick, DR, Foulger, RE, Goldstein, J, Hamosh, A, Hurles, MR, Leigh, SE, Leong, IUS, Maddirevula, S, Martin, CL, McDonagh, EM, Olry, A, Puzriakova, A, Radtke, K, Ramos, EM, Rath, A, Riggs, ER, Roberts, AM, Rodwell, C, Snow, C, Stark, Z, Tahiliani, J, Tweedie, S, Ware, JS, Weller, P, Williams, E, Wright, CF, Yates, TM, Rehm, HL

Relation: pii: S1098-3600(22)00746-8; DiStefano, M. T., Goehringer, S., Babb, L., Alkuraya, F. S., Amberger, J., Amin, M., Austin-Tse, C., Balzotti, M., Berg, J. S., Birney, E., Bocchini, C., Bruford, E. A., Coffey, A. J., Collins, H., Cunningham, F., Daugherty, L. C., Einhorn, Y., Firth, H. V., Fitzpatrick, D. R. ,. Rehm, H. L. (2022). The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med, 24 (8), pp.1732-1742. https://doi.org/10.1016/j.gim.2022.04.017.; http://hdl.handle.net/11343/316107

الاتاحة: http://hdl.handle.net/11343/316107

المؤلفون: Radford, EJ, Parker, APJ, Firth, HV

مصطلحات موضوعية: 3213 Paediatrics, 32 Biomedical and Clinical Sciences, Human Genome, Clinical Research, Genetic Testing, Genetics, FOS: Biological sciences, Prevention, 4.2 Evaluation of markers and technologies, Generic health relevance

الاتاحة: https://dx.doi.org/10.17863/cam.69813
https://www.repository.cam.ac.uk/handle/1810/322354

المؤلفون: Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Borras S, Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison PJ, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O'Driscoll M, Ong K-R, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman AM, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S-M, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J, McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar VKA, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N, Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A, Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D, Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S, Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy EJ, Daniels S, Douglas A, Foulds N, Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple IK, Wellesley D, Wright CF, FitzPatrick DR, Firth HV, Hurles ME

المصدر: Nature Communications, December 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/273115; https://eprints.ncl.ac.uk/fulltext.aspx?url=273115/A1C8A8B2-06CC-4C57-9D5D-5E2806D970F9.pdf&pub_id=273115

الاتاحة: https://eprints.ncl.ac.uk/273115

المؤلفون: Copeland, H, Kivuva, E, Firth, HV, Wright, CF

Relation: https://decipher.sanger.ac.uk/; Published online 18 February 2021; HICF-1009-003; WT098051; http://hdl.handle.net/10871/124413; Genetics in Medicine

الاتاحة: http://hdl.handle.net/10871/124413
https://doi.org/10.1038/s41436-021-01110-3

المؤلفون: Rehm, HL, Page, AJH, Smith, L, Adams, JB, Alterovitz, G, Babb, LJ, Barkley, MP, Baudis, M, Beauvais, MJS, Beck, T, Beckmann, JS, Beltran, S, Bernick, D, Bernier, A, Bonfield, JK, Boughtwood, TF, Bourque, G, Bowers, SR, Brookes, AJ, Brudno, M, Brush, MH, Bujold, D, Burdett, T, Buske, OJ, Cabili, MN, Cameron, DL, Carroll, RJ, Casas-Silva, E, Chakravarty, D, Chaudhari, BP, Chen, SH, Cherry, JM, Chung, J, Cline, M, Clissold, HL, Cook-Deegan, RM, Courtot, M, Cunningham, F, Cupak, M, Davies, RM, Denisko, D, Doerr, MJ, Dolman, LI, Dove, ES, Dursi, LJ, Dyke, SOM, Eddy, JA, Eilbeck, K, Ellrott, KP, Fairley, S, Fakhro, KA, Firth, HV, Fitzsimons, MS, Fiume, M, Flicek, P, Fore, IM, Freeberg, MA, Freimuth, RR, Fromont, LA, Fuerth, J, Gaff, CL, Gan, W, Ghanaim, EM, Glazer, D, Green, RC, Griffith, M, Griffith, OL, Grossman, RL, Groza, T, Auvil, JMG, Guigó, R, Gupta, D, Haendel, MA, Hamosh, A, Hansen, DP, Hart, RK, Hartley, DM, Haussler, D, Hendricks-Sturrup, RM, Ho, CWL, Hobb, AE, Hoffman, MM, Hofmann, OM, Holub, P, Hsu, JS, Hubaux, J-P, Hunt, SE, Husami, A, Jacobsen, JO, Jamuar, SS, Janes, EL, Jeanson, F, Jené, A, Johns, AL, Joly, Y, Jones, SJM, Kanitz, A, Kato, K, Keane, TM, Kekesi-Lafrance, K, Kelleher, J, Kerry, G, Khor, S-S, Knoppers, BM, Konopko, MA, Kosaki, K, Kuba, M, Lawson, J, Leinonen, R, Li, S, Lin, MF, Linden, M, Liu, X, Udara Liyanage, I, Lopez, J, Lucassen, AM, Lukowski, M, Mann, AL, Marshall, J, Mattioni, M, Metke-Jimenez, A, Middleton, A, Milne, RJ, Molnár-Gábor, F, Mulder, N, Munoz-Torres, MC, Nag, R, Nakagawa, H, Nasir, J, Navarro, A, Nelson, TH, Niewielska, A, Nisselle, A, Niu, J, Nyrönen, TH, O'Connor, BD, Oesterle, S, Ogishima, S, Wang, VO, Paglione, LAD, Palumbo, E, Parkinson, HE, Philippakis, AA, Pizarro, AD, Prlic, A, Rambla, J, Rendon, A, Rider, RA, Robinson, PN, Rodarmer, KW, Rodriguez, LL, Rubin, AF, Rueda, M, Rushton, GA, Ryan, RS, Saunders, GI, Schuilenburg, H, Schwede, T, Scollen, S, Senf, A, Sheffield, NC, Skantharajah, N, Smith, AV, Sofia, HJ, Spalding, D, Spurdle, AB, Stark, Z, Stein, LD, Suematsu, M, Tan, P, Tedds, JA, Thomson, AA, Thorogood, A, Tickle, TL, Tokunaga, K, Törnroos, J, Torrents, D, Upchurch, S, Valencia, A, Guimera, RV, Vamathevan, J, Varma, S, Vears, DF, Viner, C, Voisin, C, Wagner, AH, Wallace, SE, Walsh, BP, Williams, MS, Winkler, EC, Wold, BJ, Wood, GM, Woolley, JP, Yamasaki, C, Yates, AD, Yung, CK, Zass, LJ, Zaytseva, K, Zhang, J, Goodhand, P, North, K, Birney, E

Relation: pii: 100029; Rehm, H. L., Page, A. J. H., Smith, L., Adams, J. B., Alterovitz, G., Babb, L. J., Barkley, M. P., Baudis, M., Beauvais, M. J. S., Beck, T., Beckmann, J. S., Beltran, S., Bernick, D., Bernier, A., Bonfield, J. K., Boughtwood, T. F., Bourque, G., Bowers, S. R., Brookes, A. J. ,. Birney, E. (2021). GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genom, 1 (2), pp.100029-. https://doi.org/10.1016/j.xgen.2021.100029.; http://hdl.handle.net/11343/305207

الاتاحة: http://hdl.handle.net/11343/305207

المؤلفون: Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N

المساهمون: Consortium, Genomics England Research

Relation: https://ora.ox.ac.uk/objects/uuid:7de35748-f5d9-4198-87a1-5a081a7efe15; https://doi.org/10.1016/j.ajhg.2021.04.025

الاتاحة: https://doi.org/10.1016/j.ajhg.2021.04.025
https://ora.ox.ac.uk/objects/uuid:7de35748-f5d9-4198-87a1-5a081a7efe15

المؤلفون: Wright, CF, Prigmore, E, Rajan, D, Handsaker, J, McRae, J, Kaplanis, J, Fitzgerald, TW, FitzPatrick, DR, Firth, HV, Hurles, ME

مصطلحات موضوعية: Child, Cohort Studies, Developmental Disabilities, Exome, Female, Genetic Testing, Genetic Variation, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Male, Maternal Inheritance, Mosaicism, Parents, Paternal Inheritance, Exome Sequencing

وصف الملف: text/xml; application/pdf; application/zip

Relation: https://www.repository.cam.ac.uk/handle/1810/307614

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/307614
https://doi.org/10.17863/CAM.54703

المؤلفون: Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de Boer, E, Danecek, P, Gardner, EJ, Huang, N, Lord, J, Martincorena, I, Pfundt, R, Reijnders, MRF, Yeung, A, Yntema, HG, Deciphering Developmental Disorders Study, ., Vissers, LELM, Juusola, J, Wright, CF, Brunner, HG, Firth, HV, FitzPatrick, DR, Barrett, JC, Hurles, ME, Gilissen, C, Retterer, K

المصدر: Nature , 586 (7831) pp. 757-762. (2020)

مصطلحات موضوعية: Cohort Studies, DNA Copy Number Variations, DNA Mutational Analysis, Data Analysis, Databases, Genetic, Datasets as Topic, Delivery of Health Care, Developmental Disabilities, Europe, Female, Genetic Diseases, Inborn, Germ-Line Mutation, Haploinsufficiency, Humans, Male, Mutation, Missense, Penetrance, Perinatal Death, Sample Size

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10133185/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdf
https://discovery.ucl.ac.uk/id/eprint/10133185/

المؤلفون: Schaaf, CP, Betancur, C, Yuen, RKC, Parr, JR, Skuse, DH, Gallagher, L, Bernier, RA, Buchanan, JA, Buxbaum, JD, Chen, C-A, Dies, KA, Elsabbagh, M, Firth, HV, Frazier, T, Hoang, N, Howe, J, Marshall, CR, Michaud, JL, Rennie, O, Szatmari, P, Chung, WK, Bolton, PF, Cook, EH, Scherer, SW, Vorstman, JAS

المصدر: Nature Reviews Genetics , 21 (6) pp. 367-376. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10100743/3/Skuse_A%20framework%20for%20an%20evidence-based%20gene%20list%20relevant%20to%20autism%20spectrum%20disorder_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10100743/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10100743/3/Skuse_A%20framework%20for%20an%20evidence-based%20gene%20list%20relevant%20to%20autism%20spectrum%20disorder_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10100743/

المؤلفون: Radford, EJ, Firth, HV

مصطلحات موضوعية: 3213 Paediatrics, 32 Biomedical and Clinical Sciences, Prevention, Pediatric, Brain Disorders, Genetics, FOS: Biological sciences, Human Genome, Intellectual and Developmental Disabilities IDD, Biotechnology, Generic health relevance

الاتاحة: https://dx.doi.org/10.17863/cam.61033
https://www.repository.cam.ac.uk/handle/1810/313931

المؤلفون: Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Nemeth AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR, Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, Morley KI, Parthiban V, Al-Turki S, Ambridge K, Barrett DM, Bayzetinova T, Clayton S, Coomber EL, Gribble S, Jones P, Krishnappa N, Mason LE, Middleton A, Miller R, Prigmore E, Rajan D, Sifrim A, Tivey AR, Ahmed M, Akawi N, Andrews R, Anjum U, Archer H, Armstrong R, Balasubramanian M, Banerjee R, Barelle D, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Brady A, Bragin E, Brewer C, Brueton L, Brunstrom K, Bumpstead SJ, Bunyan DJ, Burn J, Burton J, Canham N, Castle B, Chandler K, Clasper S, Clayton-Smith J, Cole T, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro PM, Dabir T, Davidson R, Davies S, Dean J, Deshpande C, Devlin G, Dixit A, Dominiczak A, Donnelly C, Donnelly D, Douglas A, Duncan A, Eason J, Edkins S, Ellard S, Ellis P, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fryer A, Fu B, Gardiner C, Gaunt L, Ghali N, Gibbons R, Pereira SLG, Goodship J, Goudie D, Gray E, Greene P, Greenhalgh L, Harrison L, Hawkins R, Hellens S, Henderson A, Hobson E, Holden S, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Ingram S, Irving M, Jarvis J, Jenkins L, Johnson D, Jones D, Jones E, Josifova D, Kaemba B, Kazembe S, Kerr B, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Lam W, Lampe A, Langman C, Lees M, Lim D, Lowther G, Lynch SA, Magee A, Maher E, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McMullan DJ, McNerlan S, Mehta S, Metcalfe K, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morris A, Morton J, Mugalaasi H, Murday V, Nevitt L, Newbury-Ecob R, Norman A, O'Shea R, Ogilvie C, Park S, Patel C, Paterson J, Payne S, Phipps J, Pilz DT, Porteous D, Pratt N, Prescott K, Price S, Pridham A, Proctor A, Purnell H, Ragge N, Rankin J, Raymond L, Rice D, Robert L, Roberts E, Roberts G, Roberts J, Roberts P, Ross A, Rosser E, Saggar A, Samant S, Sandford R, Schweiger S, Scott C, Scott R, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Simonic I, Simpkin D, Singzon R, Skitt Z, Smith A, Smith B, Smith K, Smithson S, Sneddon L, Squires M, Stewart F, Stewart H, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple IK, Thomson J, Tolmie J, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Vasudevan P, Vogt J, Wakeling E, Walker D, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Williams D, Williams N, Woods G, Wragg C, Wright M, Yang F, Yau M, Carter NP, Parker M, Barrett JC

المصدر: American Journal of Human Genetics, 7 November 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/261535; https://eprints.ncl.ac.uk/fulltext.aspx?url=261535/5CC6CD84-D300-4747-8732-1CB46ED4463B.pdf&pub_id=261535

الاتاحة: https://eprints.ncl.ac.uk/261535

المؤلفون: Nellaker C, Alkuraya FS, Baynam G, Bernier R, Bernier FP, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogne B, Dawkins HJ, DeVries B, Douzgou S, Dudding T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel MA, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz M-P, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz PM, Kury S, Lees M, Lyon GJ, Lyonnet S, Marcadier J, Meyn S, Moslerova V, Politei JM, Poulton CC, Raymond FL, Reijnders M, Robinson PN, Romano C, Rose CM, Sainsbury DC, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AO

المصدر: Frontiers in Genetics, 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/258952; https://eprints.ncl.ac.uk/fulltext.aspx?url=258952/2A1A30B3-C52B-4B4B-AEEE-8EF38CC32920.pdf&pub_id=258952

الاتاحة: https://eprints.ncl.ac.uk/258952

المؤلفون: Wright, C, Prigmore, E, Rajan, D, Handsaker, J, McRae, J, Kaplanis, J, Fitzgerald, TW, FitzPatrick, DR, Firth, HV, Hurles, ME

Relation: Vol. 10, article 2985; HICF-1009–003; WT098051; http://hdl.handle.net/10871/37957; Nature Communications

الاتاحة: http://hdl.handle.net/10871/37957
https://doi.org/10.1038/s41467-019-11059-2