The UK10K project identifies rare variants in health and disease von Walter, K, Min, JL, Huang, J, Crooks, L, McCarthy, S, Xu, C, Futema, M, Lawson, D, Iotchkova, V, Schiffels, S, Danecek, P, Wain, LV, Humphries, SE, Barrett, JC, Plagnol, V, Richards, JB, Soranzo, N, Bala, S, Cox, T, Du, Y, Ellis, P, Flicek, P, Huang, L, Keane, T, Li, Y, Liang, J, Maslen, J, Muddyman, D, Tian, J, Wang, G, Wang, J, Wong, K, Zhang, P, Boustred, C, Chen, L, Clement, G, Cocca, M, Geihs, M, Howie, B, Jamshidi, Y, Karczewski, KJ, Kemp, JP, Lopes, M, Mathieson, I, Metrustry, S, Quaye, L, Shin, S-Y, Small, KS, Artigas, MS, Spector, TD, St Pourcain, B, Tachmazidou, I, Valdes, AM, Yang, J, Craddock, N, Curtis, D, Gallagher, L, Geschwind, D, Gurling, H, Lee, I, McGuffin, P, McKechanie, AG, O'Donovan, MC, Pietilainen, O, Rehnstrom, K, Skuse, D, Bochukova, E, Farooqi, IS, Keogh, J, Wheeler, E, Al Turki, S, Anderson, CA, Beales, P, Carss, K, Cirak, S, Foley, AR, Franklin, CS, Grozeva, D, Roberts, N, Schmidts, M, Spasic-Boskovic, O, Stevens, E, Van Kogelenberg, M, Vijayarangakannan, P, Whyte, T, Oualkacha, K, Kent, A, Khawaja, F, Lopes, LR, Migone, N, Pollitt, RC, Scott, RH, Chambers, JC, Dedoussis, G, Gasparini, P, Isaacs, A, Langenberg, C, Luan, J, Benn, M, Toniolo, D

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Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis von He, Y, Saito, K, Hinton, A, Yan, X, Mistry, V, Farooqi, IS, Xu, Y, Balasubramanian, S, Daly, A, Danecek, P, Du, Y, Ellis, P, Flicek, P, Huang, L, Keane, T, Li, Y, Maslen, J, Stalker, J, Tian, J, Wang, J, Birney, E, Boustred, C, Brion, M-J, Day, INM, Day-Williams, A, Gaunt, TR, Huang, J, Hubbard, T, Hysi, P, Jamshidi, Y, Kemp, JP, Lachance, G, Lopes, M, Mathieson, I, Metrustry, S, Perry, JRB, Ritchie, GRS, Schiffels, S, Shihab, HA, Small, KS, Artigas, MS, Southam, L, St Pourcain, B, Tachmazidou, I, Timpson, NJ, Tobin, MD, Wain, LV, Ward, K, Wilson, SG, Anney, R, Barrett, JC, Craddock, N, Crooks, L, Curran, S, Curtis, D, Gallagher, L, Lee, I, McGuffin, P, McKechanie, AG, Palotie, A, Pietilainen, O, Suvisaari, J, Bochukova, E, Porteous, DJ, Wheeler, E, Antony, D, Cosgrove, C, Grozeva, D, Humphries, SE, Hurles, ME, Mitchison, HM, Muntoni, F, Onoufriadis, A, Parker, V, Raymond, FL, Savage, DB, Serra, E, Whyte, T, Xu, C, Kaye, J, Ekong, R, Khawaja, F, Lopes, LR, Pollitt, RC, Povey, S, Robinson, RL, Shaw, A, Cocca, M, Dedoussis, G, Isaacs, A, Langenberg, C, Luan, J, Malerba, G, Marz, W, Matchan, A, Toniolo, D, Traglia, M, van Duijn, CM, van Leeuwen, EM, Zhang, W

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Low-frequency variation in TP53 has large effects on head circumference and intracranial volume von Hayward, C, Felix, JF, Wang, C, Ahluwalia, TS, Sunyer, J, Walter, K, Cleal, L, Huffmann, J, Sass, L, Antony, D, Artigas, MS, Bala, S, Bentham, J, Blackwood, D, Cirak, S, Clapham, P, Coates, G, Cocca, M, Cox, T, Crooks, L, Curran, S, Curtis, D, Daly, A, Day, INM, Day-Williams, A, Dunham, I, Evans, DM, Franklin, CS, Geihs, M, Geschwind, D, Greenwood, CMT, Guo, X, Gurling, H, Huang, L, Hubbard, T, Humphries, SE, Hysi, P, Kent, A, van Kogelenberg, M, Kolb-Kokocinski, A, Langford, C, Li, Y, Lonnqvist, J, Lopes, LR, Lopes, M, MacArthur, DG, McCarthy, S, McGuffin, P, McIntosh, AM, McKechanie, AG, Metrustry, S, Mitchison, HM, Morris, A, Muddyman, D, Oualkacha, K, Palotie, A, Parker, V, Parr, JR, Paunio, T, Perry, JRB, Pietilainen, O, Quail, MA, Raymond, FL, Richards, JB, Ridout, CK, Robinson, RL, Savage, DB, Scambler, P, Schoenmakers, N, Serra, E, Shaw, A, Shin, S-Y, Small, KS, Smith, BH, Soranzo, N, Stevens, E, Suvisaari, J, Taylor, R, Tian, J, Tobin, MD, Valdes, AM, Vijayarangakannan, P, Visscher, PM, Wain, LV, Ward, K, Wheeler, E, Whyte, T, Williams, HJ, Williamson, KA, Wilson, C, Wilson, SG, Zhang, P, Cole, TJ, Bisgaard, H, Pennell, CE, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V, St Pourcain, B

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The UK10K project identifies rare variants in health and disease von Walter, K, Min, JL, Huang, J, Crooks, L, McCarthy, S, Xu, C, Futema, M, Lawson, D, Iotchkova, V, Schiffels, S, Danecek, P, Wain, LV, Humphries, SE, Barrett, JC, Plagnol, V, Richards, JB, Soranzo, N, Bala, S, Cox, T, Du, Y, Ellis, P, Flicek, P, Huang, L, Keane, T, Li, Y, Liang, J, Maslen, J, Muddyman, D, Tian, J, Wang, G, Wang, J, Zhang, P, Boustred, C, Chen, L, Clement, G, Cocca, M, Geihs, M, Howie, B, Jamshidi, Y, Karczewski, KJ, Kemp, JP, Lopes, M, Mathieson, I, Metrustry, S, Quaye, L, Shin, S-Y, Small, KS, Artigas, MS, Spector, TD, St Pourcain, B, Tachmazidou, I, Valdes, AM, Yang, J, Craddock, N, Curtis, D, Gallagher, L, Geschwind, D, Gurling, H, Lee, I, McGuffin, P, McKechanie, AG, O'Donovan, MC, Pietilainen, O, Rehnstrom, K, Skuse, D, Bochukova, E, Farooqi, IS, Keogh, J, Wheeler, E, Al Turki, S, Anderson, CA, Beales, P, Carss, K, Cirak, S, Foley, AR, Franklin, CS, Grozeva, D, Roberts, N, Schmidts, M, Spasic-Boskovic, O, Stevens, E, Vijayarangakannan, P, Whyte, T, Oualkacha, K, Kent, A, Khawaja, F, Lopes, LR, Migone, N, Pollitt, RC, Scott, RH, Chambers, JC, Dedoussis, G, Gasparini, P, Isaacs, A, Langenberg, C, Luan, J, Benn, M, Toniolo, D, van Duijn, CM, van Leeuwen, EM

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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms von Boldt, Karsten, van Reeuwijk, Jeroen, Lu, Qianhao, Koutroumpas, Konstantinos, Nguyen, Thanh-Minh T., Texier, Yves, van Beersum, Sylvia E. C., Horn, Nicola, Willer, Jason R., Mans, Dorus A., Dougherty, Gerard, Lamers, Ideke J. C., Coene, Karlien L. M., Arts, Heleen H., Betts, Matthew J., Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J. F., Marcelis, Carlo L., Mitic, Dragana, Morleo, Manuela, Oud, Machteld M., Riemersma, Moniek, Rix, Susan, Terhal, Paulien A., Toedt, Grischa, van Dam, Teunis J. P., de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L., Blacque, Oliver E., Gibson, Toby J., Huynen, Martijn A., Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E., Franco, Brunella, Giles, Rachel H., Ueffing, Marius, Russell, Robert B., Roepman, Ronald

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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 von Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J., Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean- François, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M.

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Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity von Hendricks, Audrey E., Bochukova, Elena G., Marenne, Gaëlle, Keogh, Julia M., Atanassova, Neli, Bounds, Rebecca, Wheeler, Eleanor, Mistry, Vanisha, Henning, Elana, Körner, Antje, Muddyman, Dawn, McCarthy, Shane, Hinney, Anke, Hebebrand, Johannes, Scott, Robert A., Langenberg, Claudia, Wareham, Nick J., Surendran, Praveen, Howson, Joanna M., Butterworth, Adam S., Danesh, John, Nordestgaard, Børge G, Nielsen, Sune F, Afzal, Shoaib, Papadia, Sofia, Ashford, Sofie, Garg, Sumedha, Millhauser, Glenn L., Palomino, Rafael I., Kwasniewska, Alexandra, Tachmazidou, Ioanna, O’Rahilly, Stephen, Zeggini, Eleftheria, Barroso, Inês, Farooqi, I. Sadaf

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