The UK10K project identifies rare variants in health and disease by UK10K Consortium, Palotie, Aarno

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Whole genome sequencing coupled to imputation discovers genetic signals for anthropometric traits by Tachmazidou, I, Süveges, D, Min, J, Rayner, N, Southam, L, McCarthy, M, Lindgren, C, Morris, A, SpiroMeta consortium, GoT2D consortium, arcOGEN consortium, Understanding Society Scientific Group, UK10K consortium

Human Semaphorin 3 variants link melanocortin circuit development and energy balance by Van Der Klaauw, AA, Croizier, S, De Oliveira, E, Stadler, LKJ, Park, S, Kong, Y, Banton, MC, Tandon, P, Hendricks, AE, Keogh, JM, Riley, SE, Papadia, S, Henning, E, Bounds, R, Bochukova, EG, Mistry, V, O'Rahilly, S, Simerly, RB, Interval, Uk10K Consortium, Minchin, JEN, Barroso, I, Jones, EY, Bouret, SG, Farooqi, IS

Clinical and molecular consequences of disease-associated de novo mutations in SATB2 by Bengani, H, Handley, M, Alvi, M, Ibitoye, R, Lees, M, Lynch, S, Lam, W, Fannemel, M, Nordgren, A, Malmgren, H, Kvarnugn, M, Mehta, S, McKee, S, Whiteford, M, Stewart, F, Connell, F, Clayton-Smith, J, Mansour, S, Mohammed, S, Fryer, A, Morton, J, UK10K Consortium, Grozeva, D, Asam, T, Moore, D, Sifrim, A, McRae, J, Hurles, M, Firth, H, Raymond, F, Kini, U, Nellaker, C, DDD Study, FitzPatrick, D

Rare variant analysis of human and rodent obesity genes in individuals with severe childhood obesity by Hendricks, AE, Bochukova, EG, Marenne, G, Keogh, JM, Atanassova, N, Bounds, R, Wheeler, E, Mistry, V, Henning, E, Körner, A, Muddyman, D, McCarthy, S, Hinney, A, Hebebrand, J, Scott, RA, Langenberg, C, Wareham, NJ, Surendran, P, Howson, JM, Butterworth, AS, Danesh, J, Nordestgaard, BG, Nielsen, SF, Afzal, S, Papadia, S, Ashford, S, Garg, S, Millhauser, GL, Palomino, RI, Kwasniewska, A, Tachmazidou, I, O'Rahilly, S, Zeggini, E, Barroso, I, Farooqi, IS, Understanding Society Scientific Group, Epic-Cvd Consortium, Uk10K Consortium

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume by Haworth, S, Shapland, CY, Hayward, C, Prins, BP, Felix, JF, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, TS, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, JL, Sass, L, Timmers, PRHJ, Smith, G, Fisher, SE, Wilson, JF, Cole, TJ, Fernandez-Orth, D, Bønnelykke, K, Bisgaard, H, Pennell, CE, Jaddoe, VWV, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V, St Pourcain, B, UK10K consortium, Bhattacharya, S

Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia by Gorman, KM, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, KJ, Bryant, E, Reich, A, Schneider, AL, Pressler, RM, Simpson, MA, Debelle, GD, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, AR, King, MD, Cross, JH, Poduri, A, Mefford, HC, Scheffer, IE, Haack, TB, McCullagh, G, Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Rue-Albrecht, K, Millichap, JJ, Carvill, GL, Clayton-Smith, J, Maher, ER, Raymond, FL, Kurian, MA

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals by Iotchkova, V, Ritchie, G, Geihs, M, Morganella, S, Min, J, Walter, K, Timpson, N, Dunham, I, Birney, E, Soranzo, N

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