Showing 1 - 14 results of 14 for search 'Sweeney, E. T.', query time: 0.03s
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Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in C. elegans by Kim, S, Twigg, S, Scanlon, V, Chandra, A, Hansen, T, Alsubait, A, Fenwick, A, McGowan, S, Lord, H, Lester, T, Sweeney, E, Weber, A, Cox, H, Wilkie, A, Golden, A, Corsi, A
Published 2017Journal article -
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The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. by Twigg, SR, Matsumoto, K, Kidd, A, Goriely, A, Taylor, I, Fisher, R, Hoogeboom, A, Mathijssen, I, Lourenco, M, Morton, J, Sweeney, E, Wilson, L, Brunner, H, Mulliken, J, Wall, SA, Wilkie, A
Published 2006Journal article -
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RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. by Jenkins, D, Seelow, D, Jehee, F, Perlyn, C, Alonso, L, Bueno, D, Donnai, D, Josifova, D, Josifiova, D, Mathijssen, I, Morton, J, Orstavik, K, Sweeney, E, Wall, SA, Marsh, J, Nurnberg, P, Passos-Bueno, MR, Wilkie, A
Published 2007Journal article -
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Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis by Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, O, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, Donnelly, P, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R
Published 2013Conference item -
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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. by Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, N, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R, Twigg, SR
Published 2013Journal article -
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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis by Schwerd, T, Twigg, SRF, Aschenbrenner, D, Manrique, S, Miller, KA, Taylor, IB, Capitani, M, McGowan, SJ, Sweeney, E, Weber, A, Chen, L, Bowness, P, Riordan, A, Cant, A, Freeman, AF, Milner, JD, Holland, SM, Frede, N, Müller, M, Schmidt-Arras, D, Grimbache, B, Wall, SA, Jones, EY, Wilkie, AOM, Uhlig, HH
Published 2017Journal article -
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Diagnostic value of exome and whole genome sequencing in craniosynostosis by Miller, K, Twigg, S, McGowan, S, Phipps, J, Fenwick, A, Johnson, D, Wall, S, Noons, P, Rees, K, Tidey, E, Craft, J, Taylor, J, Taylor, J, Goos, J, Swagemakers, S, Mathijssen, I, van der Spek, P, Lord, H, Lester, T, Abid, N, Cilliers, D, Hurst, J, Morton, J, Sweeney, E, Weber, A, Wilson, L, Wilkie, A
Published 2016Journal article -
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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. by Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, N, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, 500 Whole-Genome Sequences (WGS500) Consortium, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R
Published 2013Journal article -
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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis by Justice, CM, Cuellar, A, Bala, K, Sabourin, JA, Cunningham, ML, Crawford, K, Phipps, JM, Zhou, Y, Cilliers, D, Byren, JC, Johnson, D, Wall, SA, Morton, JEV, Noons, P, Sweeney, E, Weber, A, Rees, KEM, Wilson, LC, Simeonov, E, Kaneva, R, Yaneva, N, Georgiev, K, Bussarsky, A, Senders, C, Zwienenberg, M, Boggan, J, Roscioli, T, Tamburrini, G, Barba, M, Conway, K, Sheffield, VC, Brody, L, Mills, JL, Kay, D, Sicko, RJ, Langlois, PH, Tittle, RK, Botto, LD, Jenkins, MM, LaSalle, JM, Lattanzi, W, Wilkie, AOM, Wilson, AF, Romitti, PA, Boyadjiev, SA, National Birth Defects Prevention Study
Published 2020Journal article -
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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 -
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Ethics in supply chains: an illustrated survey by New, S
Published 2021Other Authors: “…Sweeney, E…”
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