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A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability. by Davies, B, Brown, L, Cais, O, Watson, J, Clayton, A, Chang, V, Biggs, D, Preece, C, Hernandez-Pliego, P, Krohn, J, Bhomra, A, Twigg, S, Rimmer, A, Kanapin, A, WGS500 Consortium, Sen, A, Zaiwalla, Z, McVean, G, Foster, R, Donnelly, P, Taylor, J, Blair, E, Nutt, D, Aricescu, A, Greger, I, Peirson, S, Flint, J, Martin, H
Published 2017Journal article -
2
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. by Taylor, J, Martin, H, Lise, S, Broxholme, J, Cazier, J, Rimmer, A, Kanapin, A, Lunter, G, Fiddy, S, Allan, C, Aricescu, A, Attar, M, Babbs, C, Becq, J, Beeson, D, Bento, C, Bignell, P, Blair, E, Buckle, V, Bull, K, Cais, O, Cario, H, Chapel, H, Copley, R, Cornall, R, Craft, J, Dahan, K, Davenport, E, Dendrou, C, Devuyst, O, Fenwick, A, Flint, J, Fugger, L, Gilbert, R, Goriely, A, Green, A, Greger, I, Grocock, R, Gruszczyk, A, Hastings, R, Hatton, E, Higgs, D, Hill, A, Holmes, C, Howard, M, Hughes, L, Humburg, P, Johnson, D, Karpe, F, Kingsbury, Z, Kini, U, Knight, J, Krohn, J, Lamble, S, Langman, C, Lonie, L, Luck, J, McCarthy, D, McGowan, S, McMullin, M, Miller, K, Murray, L, Németh, A, Nesbit, A, Nutt, D, Ormondroyd, E, Oturai, A, Pagnamenta, A, Patel, S, Percy, M, Petousi, N, Piazza, P, Piret, S, Polanco-Echeverry, G, Popitsch, N, Powrie, F, Pugh, C, Quek, L, Robbins, P, Robson, K, Russo, A, Sahgal, N, van Schouwenburg, P, Schuh, A, Silverman, E, Simmons, A, Sørensen, P, Sweeney, E, Taylor, J, Thakker, R, Tomlinson, I, Trebes, A, Twigg, S, Uhlig, H, Vyas, P, Vyse, T, Wall, S, Watkins, H, Whyte, M, Witty, L, Wright, B, Yau, C, Buck, D, Humphray, S, Ratcliffe, P, Bell, J, Wilkie, A, Bentley, D, Donnelly, P, McVean, G
Published 2015Journal article