المؤلفون: Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Hernandez-Garcia, A, Pedace, L, Pantaleoni, F, Liu, ZD, de Boer, E, Jackson, A, Bruselles, A, McConkey, H, Stellacci, E, Lo Cicero, S, Motta, M, Carrozzo, R, Dentici, ML, McWalter, K, Desai, M, Monaghan, KG, Telegrafi, A, Philippe, C, Vitobello, A, Au, M, Grand, K, Sanchez-Lara, PA, Baez, J, Lindstrom, K, Kulch, P, Sebastian, J, Madan-Khetarpal, S, Roadhouse, C, MacKenzie, JJ, Monteleone, B, Saunders, CJ, Cuevas, JKJ, Cross, L, Zhou, DH, Hartley, T, Sawyer, SL, Monteiro, FP, Secches, TV, Kok, F, Schultz-Rogers, LE, Macke, EL, Morava, E, Klee, EW, Kemppainen, J, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Pais, L, Gallacher, L, Turnpenny, PD, Stals, K, Ellard, S, Cabet, S, Lesca, G, Pascal, J, Steindl, K, Ravid, S, Weiss, K, Castle, AMR, Carter, MT, Kalsner, L, de Vries, BBA, van Bon, BW, Wevers, MR, Pfundt, R, Stegmann, APA, Kerr, B, Kingston, HM, Chandler, KE, Sheehan, W, Elias, AF, Shinde, DN, Towne, MC, Robin, NH, Goodloe, D, Vanderver, A, Sherbini, O, Bluske, K, Hagelstrom, RT, Zanus, C, Faletra, F, Musante, L, Kurtz-Nelson, EC, Earl, RK, Anderlid, BM, Morin, G, van Slegtenhorst, M, Diderich, KEM, Brooks, AS, Gribnau, J, Boers, RG, Finestra, TR, Carter, LB, Rauch, A, Gasparini, P, Boycott, KM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Eichler, EE, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M

المصدر: American journal of human genetics. 108(3):502-516

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146295590

المؤلفون: Carlsson, A, Shepherd, M, Ellard, S, Weedon, M, Lernmark, A, Forsander, G, Colclough, K, Brahimi, Q, Valtonen-Andre, C, Ivarsson, SA, Elding Larsson, H, Samuelsson, U, Ortqvist, E, Groop, L, Ludvigsson, J, Marcus, C, Hattersley, AT

المصدر: Diabetes care. 43(1):82-89

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142770102

المؤلفون: Ellard, S. D., WgComdr

المصدر: Royal Air Force Air Power Review. 2005 8(3):46-70

مصطلحات موضوعية: WORLD WAR II - Great Britain, AIR EXPEDITIONARY FORCE, LOGISTICS - Air Force - Great Britain

URL الوصول: http://www.dtic.mil/dtic/aulimp/citations/gsa/2005_118877/122240.html

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: Van Haute L, Palenikova P, Tang JX, Nash PA, Simon MT, Pyle A, Olahova M, Powell CA, Rebelo-Guiomar P, Stover A, Champion M, Deshpande C, Baple EL, Stals KL, Ellard S, Anselem O, Molac C, Petrilli G, Loeuillet L, Grotto S, Attie-Bitach T, Abdenur JE, Taylor RW, Minczuk M

المصدر: EMBO Molecular Medicine, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/302757; https://eprints.ncl.ac.uk/fulltext.aspx?url=302757/75CC4A37-2848-4B84-9207-BAD31BDC4443.pdf&pub_id=302757

الاتاحة: https://eprints.ncl.ac.uk/302757

المؤلفون: Garrett, Alice, Allen, Sophie, Durkie, Miranda, Burghel, George J., Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Palmer-Smith, Sheila, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, Rowlands, Charlie F., McVeigh, Terri, Hanson, Helen, Turnbull, Clare, Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A.

المساهمون: Cancer Research UK

المصدر: Genetics in Medicine ; page 101305 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2024.101305
https://api.elsevier.com/content/article/PII:S1098360024002399?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024002399?httpAccept=text/plain

المؤلفون: Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC

المصدر: American Journal of Human Genetics, 6 June 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/299014; https://eprints.ncl.ac.uk/fulltext.aspx?url=299014/15D7E4DB-4F7E-49BB-8741-1F8BAF055BAC.pdf&pub_id=299014

الاتاحة: https://eprints.ncl.ac.uk/299014

المؤلفون: Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy E-J, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW, Baty D, Berg J, Blair E, Bowdin S, Bownass L, Bradley T, Campbell J, Charlton R, Clouston P, Constantinou P, Cooper N, Delon I, Downes K, Ellis D, Elmslie F, Ghali N, Hagan R, Heggarty S, Higgs J, Hunt D, Jenkins L, McAnulty C, McCann E, McDevitt T, McMullan D, Miedzybrodzka Z, Moore D, Newman W, O'Sullivan D, Parker M, Porteous M, Ramsden S, Rea G, Ruddy D, Ryan G, Sarkar A, Sheridan E, Short J, Thomas E, Thomas S, Varghese V, Vasudevan P, Wakeling E, Williams A, Wright M

المصدر: Journal of Medical Genetics, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/301579; https://eprints.ncl.ac.uk/fulltext.aspx?url=301579/293258B2-88BF-418F-9A6C-4E0F9F01F96E.pdf&pub_id=301579

الاتاحة: https://eprints.ncl.ac.uk/301579

المؤلفون: Baple, EL, Scott, RH, Banka, S, Buchanan, J, Fish, L, Wynn, S, Wilkinson, D, Ellard, S, MacArthur, DG, Stark, Z

الاتاحة: https://doi.org/10.1038/s41591-024-03055-x
https://ora.ox.ac.uk/objects/uuid:5fb5b046-e08b-4cd8-8488-a2de73d76517

المؤلفون: Tolonen, JP, Parolin Schnekenberg, R, McGowan, S, Sims, D, McEntagart, M, Elmslie, F, Shears, D, Stewart, H, Tofaris, GK, Dabir, T, Morrison, PJ, Johnson, D, Hadjivassiliou, M, Ellard, S, Shaw-Smith, C, Znaczko, A, Dixit, A, Suri, M, Sarkar, A, Harrison, RE, Jones, G, Houlden, H, Ceravolo, G, Jarvis, J, Williams, J, Shanks, ME, Clouston, P, Rankin, J, Blumkin, L, Lerman-Sagie, T, Ponger, P, Raskin, S, Granath, K, Uusimaa, J, Conti, H, McCann, E, Joss, S, Blakes, AJM, Metcalfe, K, Kingston, H, Bertoli, M, Kneen, R, Lynch, SA, Martínez Albaladejo, I, Moore, AP, Jones, WD, Genomics England Research Consortium, Becker, EBE, Németh, AH

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://openaccess.sgul.ac.uk/id/eprint/116007/1/Movement%20Disorders%20-%202023%20-%20Tolonen%20-%20Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides%20Diagnostics%20and%20Therapeutic.pdf; https://openaccess.sgul.ac.uk/id/eprint/116007/6/mds29651-sup-0001-figures.docx; https://openaccess.sgul.ac.uk/id/eprint/116007/8/mds29651-sup-0002-tables.docx; Tolonen, JP; Parolin Schnekenberg, R; McGowan, S; Sims, D; McEntagart, M; Elmslie, F; Shears, D; Stewart, H; Tofaris, GK; Dabir, T; et al. Tolonen, JP; Parolin Schnekenberg, R; McGowan, S; Sims, D; McEntagart, M; Elmslie, F; Shears, D; Stewart, H; Tofaris, GK; Dabir, T; Morrison, PJ; Johnson, D; Hadjivassiliou, M; Ellard, S; Shaw-Smith, C; Znaczko, A; Dixit, A; Suri, M; Sarkar, A; Harrison, RE; Jones, G; Houlden, H; Ceravolo, G; Jarvis, J; Williams, J; Shanks, ME; Clouston, P; Rankin, J; Blumkin, L; Lerman-Sagie, T; Ponger, P; Raskin, S; Granath, K; Uusimaa, J; Conti, H; McCann, E; Joss, S; Blakes, AJM; Metcalfe, K; Kingston, H; Bertoli, M; Kneen, R; Lynch, SA; Martínez Albaladejo, I; Moore, AP; Jones, WD; Genomics England Research Consortium; Becker, EBE; Németh, AH (2024) Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design. Mov Disord, 39 (1). pp. 141-151. ISSN 1531-8257 https://doi.org/10.1002/mds.29651 SGUL Authors: Elmslie, Frances

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116007/
https://openaccess.sgul.ac.uk/id/eprint/116007/1/Movement%20Disorders%20-%202023%20-%20Tolonen%20-%20Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides%20Diagnostics%20and%20Therapeutic.pdf
https://openaccess.sgul.ac.uk/id/eprint/116007/6/mds29651-sup-0001-figures.docx
https://openaccess.sgul.ac.uk/id/eprint/116007/8/mds29651-sup-0002-tables.docx
https://doi.org/10.1002/mds.29651

المؤلفون: Pagnamenta, A.T., Yu, J., Walker, S., Noble, A.J., Lord, J., Dutta, P., Hashim, M., Camps, C., Green, H., Devaiah, S., Nashef, L., Parr, J., Fratter, C., Ibnouf Hussein, R., Lindsay, S.J., Lalloo, F., Banos-Pinero, B., Evans, D., Mallin, L., Waite, A., Evans, J., Newman, A., Allen, Z., Perez-Becerril, C., Ryan, G., Hart, R., Taylor, J., Bedenham, T., Clement, E., Blair, E., Hay, E., Forzano, F., Higgs, J., Canham, N., Majumdar, A., McEntagart, M., Lahiri, N., Stewart, H., Smithson, S., Calpena, E., Jackson, A., Banka, S., Titheradge, H., McGowan, R., Rankin, J., Shaw-Smith, C., Evans, D.G., Burghel, G.J., Smith, M.J., Anderson, E., Madhu, R., Firth, H., Ellard, S., Brennan, P., Anderson, C., Taupin, D., Rogers, M.T., Cook, J.A., Durkie, M., East, J.E., Fowler, D., Wilson, L., Igbokwe, R., Gardham, A., Tomlinson, I., Baralle, D., Uhlig, H.H., Taylor, J.C.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/214063/1/The%20impact%20of%20inversions%20across%2033,924%20families%20with%20rare%20disease%20from%20a%20national%20genome%20sequencing%20project.pdf; Pagnamenta, A.T. orcid.org/0000-0001-7334-0602 , Yu, J., Walker, S. et al. (65 more authors) (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6). pp. 1140-1164. ISSN 0002-9297

الاتاحة: https://eprints.whiterose.ac.uk/214063/
https://eprints.whiterose.ac.uk/214063/1/The%20impact%20of%20inversions%20across%2033,924%20families%20with%20rare%20disease%20from%20a%20national%20genome%20sequencing%20project.pdf

المؤلفون: Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martinez Albaladejo I, Moore AP, Jones WD, Becker EBE, Nemeth AH

المصدر: Movement Disorders, 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/295228; https://eprints.ncl.ac.uk/fulltext.aspx?url=295228/3FC297C5-F4D4-4CA8-9930-3A5BFE8E65D1.pdf&pub_id=295228

الاتاحة: https://eprints.ncl.ac.uk/295228

المؤلفون: De Franco, E, Owens, NDL, Montaser, H, Wakeling, MN, Saarimäki-Vire, J, Triantou, A, Ibrahim, H, Balboa, D, Caswell, RC, Jennings, RE, Kvist, JA, Johnson, MB, Muralidharan, S, Ellard, S, Wright, CF, Maddirevula, S, Alkuraya, FS, Hanley, NA, Flanagan, SE, Otonkoski, T, Hattersley, AT, Imbeault, M

Relation: https://www.diabetesgenes.org/current-research/genetic-beta-cell-research-bank/; https://github.com/owensnick/ZNF808Genomics.jl; https://doi.org/10.5281/zenodo.8375708; orcid:0000-0002-1437-7891 (De Franco, Elisa); Vol. 55, pp. 2075–2081; 224600/Z/21/Z; WT098395/Z/12/Z; 105636/Z/14/Z; 19/005971; 20/0006263; 206688/Z/17/Z; MR/000638/1; MR/S036121/1; 312437; 0057286; ALTF 295-2019; RG-2022-010; http://hdl.handle.net/10871/133654; Nature Genetics

الاتاحة: http://hdl.handle.net/10871/133654
https://doi.org/10.1038/s41588-023-01565-x

المؤلفون: Ververi, A, Zagaglia, S, Menzies, L, Baptista, J, Caswell, R, Baulac, S, Ellard, S, Lynch, S, Consortium, GER, Jacques, TS, Chawla, MS, Heier, M, Kulseth, MA, Mero, I-L, Våtevik, AK, Kraoua, I, Rhouma, HB, Younes, TB, Miladi, Z, Turki, IBY, Jones, WD, Clement, E, Eltze, C, Mankad, K, Merve, A, Parker, J, Hoskins, B, Pressler, R, Sudhakar, S, DeVile, C, Homfray, T, Kaliakatsos, M, Ponnudas, PP, Robinson, R, Keim, SMB, Habibi, I, Reymond, A, Sisodiya, SM, Hurst, JA

وصف الملف: application/pdf; application/vnd.ms-excel; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://openaccess.sgul.ac.uk/id/eprint/115070/1/ddac225.pdf; https://openaccess.sgul.ac.uk/id/eprint/115070/6/supplemental_table_1_tiered_variants_from_wgs_of_patient_1_ddac225.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115070/7/supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115070/8/supplemental_table_3-roh_comparison_patients_1_2_3_and_4-revised_ddac225.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115070/9/supplement_1_ddac225.docx; https://openaccess.sgul.ac.uk/id/eprint/115070/11/supplement_2_revised_ddac225.docx; Ververi, A; Zagaglia, S; Menzies, L; Baptista, J; Caswell, R; Baulac, S; Ellard, S; Lynch, S; Consortium, GER; Jacques, TS; et al. Ververi, A; Zagaglia, S; Menzies, L; Baptista, J; Caswell, R; Baulac, S; Ellard, S; Lynch, S; Consortium, GER; Jacques, TS; Chawla, MS; Heier, M; Kulseth, MA; Mero, I-L; Våtevik, AK; Kraoua, I; Rhouma, HB; Younes, TB; Miladi, Z; Turki, IBY; Jones, WD; Clement, E; Eltze, C; Mankad, K; Merve, A; Parker, J; Hoskins, B; Pressler, R; Sudhakar, S; DeVile, C; Homfray, T; Kaliakatsos, M; Ponnudas, PP; Robinson, R; Keim, SMB; Habibi, I; Reymond, A; Sisodiya, SM; Hurst, JA (2023) Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. Hum Mol Genet, 32 (4). pp. 580-594. ISSN 1460-2083 https://doi.org/10.1093/hmg/ddac225 SGUL Authors: Homfray, Tessa

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115070/
https://openaccess.sgul.ac.uk/id/eprint/115070/1/ddac225.pdf
https://openaccess.sgul.ac.uk/id/eprint/115070/6/supplemental_table_1_tiered_variants_from_wgs_of_patient_1_ddac225.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115070/7/supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115070/8/supplemental_table_3-roh_comparison_patients_1_2_3_and_4-revised_ddac225.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115070/9/supplement_1_ddac225.docx
https://openaccess.sgul.ac.uk/id/eprint/115070/11/supplement_2_revised_ddac225.docx
https://doi.org/10.1093/hmg/ddac225

المؤلفون: Adamo, C. S., Beyens, A., Schiavinato, A., Keene, D. R., Tufa, S. F., Mörgelin, M., Brinckmann, J., Sasaki, T., Niehoff, A., Dreiner, M., Pottie, L., Muiño-Mosquera, L., Gulec, E. Y., Gezdirici, A., Braghetta, P., Bonaldo, P., Wagener, R., Paulsson, M., Bornaun, H., De Rycke, R., De Bruyne, M., Baeke, F., Devine, W. P., Gangaram, B., Tam, A., Balasubramanian, M., Ellard, S., Moore, S., Symoens, S., Shen, J., Cole, S., Schwarze, U., Holmes, K. W., Hayflick, S. J., Wiszniewski, W., Nampoothiri, S., Davis, E. C., Sakai, L. Y., Sengle, G., Callewaert, B.

مصطلحات موضوعية: Humans, Mice, Animals, Cutis Laxa/genetics, Elastin/metabolism, Extracellular Matrix Proteins/metabolism, Collagen/genetics, Bone Diseases, Metabolic, Efemp2, Emilin1, Lox, aortic aneurysm, arterial tortuosity, collagen, cutis laxa, elastic fiber, extracellular matrix, fracture

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(22)00458-X; Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi:10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8.; https://rde.dspace-express.com/handle/11287/622695; American journal of human genetics

الاتاحة: https://doi.org/10.1016/j.ajhg.2022.10.010
https://rde.dspace-express.com/handle/11287/622695

المؤلفون: Flanagan, SE, Haapaniemi, E, Russell, MA, Caswell, R, Allen, HL, De Francol, E, McDonald, TJ, Rajala, H, Ramelius, A, Barton, J, Heiskanen, K, Heiskanen-Kosmal, T, Kajosaari, M, Murphyli, NP, Milenkovic, T, Seppanen, M, Lemmark, A, Mustjoki, S, Otonkoski, T, Kere, J, Morgan, NG, Ellard, S, Hattersley, AT

المصدر: Nature genetics. 46(8):812-814

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129508643

المؤلفون: Ellingford, J. M., Ahn, J. W., Bagnall, R. D., Baralle, D., Barton, S., Campbell, C., Downes, K., Ellard, S., Duff-Farrier, C., FitzPatrick, D. R., Greally, J. M., Ingles, J., Krishnan, N., Lord, J., Martin, H. C., Newman, W. G., O'Donnell-Luria, A., Ramsden, S. C., Rehm, H. L., Richardson, E., Singer-Berk, M., Taylor, J. C., Williams, M., Wood, J. C., Wright, C. F., Harrison, S. M., Whiffin, N.

مصطلحات موضوعية: Genetic Variation, Genome, Genome-Wide Association Study, Open Reading Frames, Regulatory Sequences, Nucleic Acid, Gene regulation, Non-coding variation, Variant interpretation

Relation: https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01073-3; Genome Med. 2022 Jul 19;14(1):73. doi:10.1186/s13073-022-01073-3.; Genome medicine; PMC9295495; https://hdl.handle.net/11287/622684

الاتاحة: https://hdl.handle.net/11287/622684
https://doi.org/10.1186/s13073-022-01073-3

المؤلفون: Wakeling, MN, Owens, NDL, Hopkinson, JR, Johnson, MB, Houghton, JAL, Dastamani, A, Flaxman, CS, Wyatt, RC, Hewat, TI, Hopkins, JJ, Laver, TW, van Heugten, R, Weedon, MN, De Franco, E, Patel, KA, Ellard, S, Morgan, NG, Cheesman, E, Banerjee, I, Hattersley, AT, Dunne, MJ, Richardson, SJ, Flanagan, SE

Relation: https://www.ncbi.nlm.nih.gov/pubmed/36333503; https://www.diabetesgenes.org/current‐research/genetic‐ beta‐cell‐research‐bank/; Nat Genet; orcid:0000-0002-6542-9241 (Wakeling, Matthew N); orcid:0000-0002-2151-9923 (Owens, Nick DL); orcid:0000-0002-5330-760X (Hewat, Thomas I); orcid:0000-0001-6399-0089 (Laver, Thomas W); orcid:0000-0002-1437-7891 (De Franco, Elisa); orcid:0000-0003-1537-8113 (Morgan, Noel G); orcid:0000-0001-5620-473X (Hattersley, Andrew T); orcid:0000-0002-1160-6062 (Richardson, Sarah J); orcid:0000-0002-8670-6340 (Flanagan, Sarah E); Vol. 54, pp. 1615–1620; https://doi.org/10.1038/s41588-022-01204-x; 105636/Z/14/Z; http://hdl.handle.net/10871/132283; Nature Genetics

الاتاحة: http://hdl.handle.net/10871/132283
https://doi.org/10.1038/s41588-022-01204-x

المؤلفون: Wyatt, RC, Hagopian, WA, Roep, BO, Patel, KA, Resnick, B, Dobbs, R, Hudson, M, EXE-T1D Consortium, De Franco, E, Ellard, S, Flanagan, SE, Hattersley, AT, Oram, RA, Johnson, MB

مصطلحات موضوعية: ER stress, HLA, Islet autoantibodies, Monogenic, Neonatal diabetes

وصف الملف: 1-6; Print-Electronic

Relation: https://www.ncbi.nlm.nih.gov/pubmed/35501400; https://www.diabetesgenes.org/current-research/genetic-beta-cell-research-bank/; Diabetologia; orcid:0000-0002-1437-7891 (De Franco, Elisa); orcid:0000-0003-3581-8980 (Oram, Richard A); orcid:0000-0002-6519-6687 (Johnson, Matthew B); ScopusID: 57191429364 (Johnson, Matthew B); Published online 30 April 2022; https://doi.org/10.1007/s00125-022-05697-3; 098395/Z/12/Z; DK063829; DK017047; 3-SRA-2019-827-S-B; 2-SRA-2020-964-S-B; 219606/Z/19/Z; 19/005971; 105636/Z/14/Z; 16/0005529; http://hdl.handle.net/10871/129797

الاتاحة: http://hdl.handle.net/10871/129797
https://doi.org/10.1007/s00125-022-05697-3

المؤلفون: Laver, TW, Wakeling, MN, Knox, O, Colclough, K, Wright, CF, Ellard, S, Hattersley, AT, Weedon, MN, Patel, KA

وصف الملف: Print-Electronic

Relation: https://www.ncbi.nlm.nih.gov/pubmed/35108381; https://gnomad.broadinstitute.org/; Diabetes; orcid:0000-0001-6399-0089 (Laver, Thomas W); ScopusID: 6506037245 (Laver, Thomas W); orcid:0000-0001-5620-473X (Hattersley, Andrew T); orcid:0000-0002-6174-6135 (Weedon, Michael N); orcid:0000-0002-9240-8104 (Patel, Kashyap A); ScopusID: 57188657944 (Patel, Kashyap A); Published online 2 February 2022; https://doi.org/10.2337/db21-0844; MR/T00200X/1; 19/0005994; 219606/Z/19/Z; WT098395/Z/12/Z; http://hdl.handle.net/10871/129140

الاتاحة: http://hdl.handle.net/10871/129140
https://doi.org/10.2337/db21-0844