Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

Publikováno v: American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015

Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic inf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8438162f307fa6cb5836ae7a28494148
https://doi.org/10.1016/j.ajhg.2019.09.015

Subject Index Vol. 102, 2003

Autor: P.H. Nissen, I. Edfors-Lilja, J. Aerts, R. Thomas, X. Guo, M.A. Ferguson-Smith, L. Molteni, M. Fredholm, B. Koop, P.J. Venta, H. Bird, J.N. Derr, T. Zharkikh, J. Quackenbush, M. Marra, R.W. Dunstan, H.A. Lewin, G. Pielberg, L. Chemnick, L.A. Clark, Y. Lahbib-Mansais, N. Ramlachan, Noelle E. Cockett, A. Fu, H. Hayes, G.Q. Fitch, H. Fiegler, A.T. Bowling, E.P. Cribiu, D. Gallagher, R. Rullo, B. Backofen, J.-T. Jeon, C.W. Ernst, H.P. Klinger, R.P.M.A. Crooijmans, H. Yasue, J.L. Williams, V.D. Rilington, B. Fu, G. Rohrer, H.B. Park, V.A. David, F. Kasai, D.E. Harry, M. Zanotti, V. Amarger, R. Fries, Terje Raudsepp, V. Russo, D. Incarnato, Loren C. Skow, I.R. Franklin, C. Marchitelli, S. Cirera, S.S. Moore, M.C. Savarese, K. Sandberg, S. Kubickova, J.F. Taylor, S. Cornelissen, L. Krejci, B.J. Ostroski, A.A. Schäffer, Thomas Faraut, K. Osoegawa, J. Klukowska, M. Gautier, C. Elduque, S. Mikawa, S. Marklund, Samodha C. Fernando, G. Guérin, Donald Miller, F.A. Ponce de León, A. Jaadar, F. Martins-Wess, C.E. Rexroad, Udaya DeSilva, L. Ferretti, K.L. Tsai, L.B. Madsen, E. Bailey, J. Schläpfer, E.A. Ostrander, G.P. Di Meo, J. van der Poel, Bruce A. Roe, J.L. Myka, E. Scotti, H.H. Cheng, E.G. Cothran, G. Bongioni, L. Andersson, A. Winter, M.E. Delany, W.J. Murphy, D. Zudova, T.L. Ward, C. Baiocco, A. Crisà, Rebecca L. Tallmadge, W. Rens, J. Aldenhoven, Bhanu P. Chowdhary, K.E. Murphy, M.F. Rothschild, R.D. Schnabel, M.L. Cox, J.R. Mickelson, A. Valentini, M. Niikura, V. Fillon, M.V. Arruga, C.M. Seabury, M. van Eckeveld, C. Schelling, C. Genêt, J.W. Keele, B.W. Kirkpatrick, M. Schmid, E. Cribiu, C.R. Farber, C. Li, N. Rogalska-Niznik, Y. Chen, J.A. Price, C. Drögemüller, O.R.P. Bininda-Emonds, L.D. Chaves, M.L. Houck, N.E. Raney, C. Penado, K.M. Credille, Alan Archibald, B. Lama, S.J. Valberg, O. Rezacova, B.S.D. Urquhart, A. Eggen, M. Van Poucke, J.A.M. Graves, L. Iannuzzi, K. Benke, L.M. Daniels, B.P. Chowdhary, G. Brown, M. Yerle, Y. Da, F. Yang, S. Braglia, B. Brenig, M .A.M. Groenen, D. Milenkovic, I. Szczerbal, M. Mattheeuws, A.H. Petersen, Jillian F. Maddox, B. van Hest, W. Zimmermann, J.R. Garbe, R. Stephens, J. Rubes, Y. Lee, J. Schein, L. Alexander, H.-C. Liu, M.N. Romanov, M.M. Binns, M. Dunø, P.J. de Jong, A.L. Gustafson, S. Kiuchi, S.E. Swanberg, Y. Palti, B. Benkel, A. Van Zeveren, Y. Meng, C.B. Jørgensen, A. Galli, K.M. Reed, H. Uenishi, N.P. Carter, V.H. Nielsen, J.B. Dodgson, A.T.V. Pillai, C.W. Beattie, K. Hemmatian, R. Guyon, J.E. Fulton, N. Bosak, R. Erlandsson, A. Vignal, C. Moran, J. Womack, K. Jacobs, O. Ryder, Doris M. Kupfer, S. So, David L. Adelson, Y. Zhang, L. Harman, R. Voß-Nemitz, C. Garcia, K.A. Greer, L.J. Peelman, V. Cantegrel, T. Veenendaal, M. Longeri, S.I. Anderson, A. Robic, S. Karamycheva, R. Middleton, B. Thomsen, N. Iannuccelli, L. Buttazzoni, J.E. Swinburne, L. Fontanesi, L. Nanni Costa, C.A. Gill, H. Hiraiwa, S.A. Gahr, G. Dolf, S. Peto, L. Skow, T.L. Lear, L.D. Lieto, M. Breen, E.J. Cargill, T. Bønsdorff, R. Agarwala, M. Menotti-Raymond, N. Yasinetskaya, P. Chardon, W.-S. Liu, O.A. Ryder, S. Mashima, L. Schibler, C. Hansen, Douglas F. Antczak, S.J. O’Brien, T. Hayashi, F.A. Habermann, A. Perucatti, Fares Z. Najar, T. Lear, C. Bendixen, W. Bridge, D. Milan, R. Davoli, T.J. Robinson, H. Fairclough, P.C.M. O’Brien, M. Switonski, F. Galibert, T. Leeb

Publikováno v: Cytogenetic and Genome Research. 102:364-366

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d4ad625a167ab9c2d06986a804ba3aae
https://doi.org/10.1159/000076896

Human extravillous trophoblast MHC Class I expression is resistant to regulation by interferon-α

Autor: Yung Wai Loke, Gill Chumbley, N.P. Carter, Sasha Hawley

Publikováno v: Journal of Reproductive Immunology. 20:289-296

We have shown that MHC Class I antigen expression by first trimester human extravillous trophoblast cells is resistant to upregulation by IFN-alpha while embryonic fibroblasts of the same gestational age are responsive. This is in contrast to our pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::223ac5cf9ddd446ad285815d5c2d0e3a
https://doi.org/10.1016/0165-0378(91)90053-s

The M-Machine multicomputer

Autor: M. Fillo, S.W. Keckler, W.J. Dally, N.P. Carter, A. Chang, Y. Gurevich, W.S. Lee

Publikováno v: Proceedings of the 28th Annual International Symposium on Microarchitecture.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::acccf9f0ffafb1e9e57884bd015cc766
https://doi.org/10.1109/micro.1995.476822

Cytotoxic T cell recognition of the influenza nucleoprotein and hemagglutinin expressed in transfected mouse L cells

Autor: George G. Brownlee, N.P. Carter, J.A. Huddleston, Andrew J. McMichael, Alain Townsend

Publikováno v: Cell. 39(1)

L cells expressing either the A/NT/60/68 nucleoprotein or the A/PR/8/34 (H1) hemagglutinin by DNA mediated gene transfer were used to investigate recognition by influenza A specific cytotoxic T lymphocytes (CTL). A subpopulation of CTL that recognize

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d7a70e3e180757f1648010eb76aa732
https://pubmed.ncbi.nlm.nih.gov/6091906