Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. حسب Mirza, G, Williams, R, Mohammed, S, Clark, R, Newbury-Ecob, R, Baldinger, S, Flinter, F, Ragoussis, J

The phenotype of Floating-Harbor syndrome in 10 patients. حسب White, S, Morgan, A, Da Costa, A, Lacombe, D, Knight, S, Houlston, R, Whiteford, M, Newbury-Ecob, R, Hurst, J

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. حسب Robertson, S, Twigg, SR, Sutherland-Smith, A, Biancalana, V, Gorlin, R, Horn, D, Kenwrick, S, Kim, C, Morava, E, Newbury-Ecob, R, Orstavik, K, Quarrell, O, Schwartz, C, Shears, D, Suri, M, Kendrick-Jones, J, Wilkie, A

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. حسب Toutain, A, Dessay, B, Ronce, N, Ferrante, M, Tranchemontagne, J, Newbury-Ecob, R, Wallgren-Pettersson, C, Burn, J, Kaplan, J, Rossi, A, Russo, S, Walpole, I, Hartsfield, J, Oyen, N, Nemeth, A, Bitoun, P, Trump, D, Moraine, C, Franco, B

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. حسب Robertson, S, Jenkins, Z, Morgan, T, Adès, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Miñaur, S, Grix, A, Green, A, Der Kaloustian, V, Lewkonia, R, McInnes, B, Haelst, v, Mancini, G, Macini, G, Illés, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C, Ochman, K, Brozek, I, Shears, D, Superti-Furga, A

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome حسب Menke, LA, Gardeitchik, T, Hammond, P, Heimdal, KR, Houge, G, Hufnagel, SB, Ji, J, Johansson, S, Kant, SG, Kinning, E, Leon, EL, Newbury-Ecob, R, Paolacci, S, Pfundt, R, Ragge, NK, Rinne, T, Ruivenkamp, C, Saitta, SC, Sun, Y, Tartaglia, M, Terhal, PA, van Essen, AJ, Vigeland, MD, Xiao, B, Hennekam, RC

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (vol 140A, pg 1726, 2006) حسب Robertson, S, Jenkins, Z, Morgan, T, Ades, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Minaur, S, Grix, A, Green, A, Kalouistian, V, Lewkonia, R, McInnes, B, Haelst, v, Macini, G, Illes, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C, Ochman, K, Brozek, I, Shears, D, Superti-Furga, A, Suri, M

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome حسب Pagnamenta, A, Kaisaki, P, Bennett, F, Burkitt-Wright, E, Martin, H, Ferla, M, Taylor, J, Gompertz, L, Lahiri, N, Tatton-Brown, K, Newbury-Ecob, R, Henderson, A, Joss, S, Weber, A, Carmichael, J, Turnpenny, P, McKee, S, Forzano, F, Ashraf, T, Bradbury, K, Shears, D, Kini, U, De Burca, A, The DDD Study, Blair, E, Taylor, J, Stewart, H

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients حسب Moortgat, S, Berland, S, Maystadt, I, Baker, I, Wilkie, A, Benoit, V, Caro-Llopis, A, Cooper, N, Debray, F, Faivre, L, Gardeitchik, T, Haukanes, B, Houge, G, Kivuva, E, Martinez, F, Mehta, S, Nassogne, M, Powell-Hamilton, N, Pfundt, R, Rosello, M, Prescott, T, Vasudevan, P, van Loon, B, Verellen-Dumoulin, C, Verloes, A, von der Lippe, C, Wakeling, E, Wilson, L, Yuen, A, Low, K, Newbury-Ecob, R

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. حسب Sifrim, A, Hitz, M, Wilsdon, A, Breckpot, J, Al Turki, S, Thienpont, B, McRae, J, Fitzgerald, T, Singh, T, Swaminathan, G, Prigmore, E, Rajan, D, Abdul-Khaliq, H, Banka, S, Bauer, U, Bentham, J, Berger, F, Bhattacharya, S, Bu'Lock, F, Canham, N, Colgiu, I, Cosgrove, C, Cox, H, Daehnert, I, Daly, A, Danesh, J, Fryer, A, Gewillig, M, Hobson, E, Hoff, K, Homfray, T, Kahlert, A, Ketley, A, Kramer, H, Lachlan, K, Lampe, A, Louw, J, Manickara, A, Manase, D, McCarthy, K, Metcalfe, K, Moore, C, Newbury-Ecob, R, Omer, S, Ouwehand, W, Park, S, Parker, M, Pickardt, T, Pollard, M, Robert, L, Roberts, D, Sambrook, J, Setchfield, K, Stiller, B, Thornborough, C, Toka, O, Watkins, H, Williams, D, Wright, M, Mital, S, Daubeney, P, Keavney, B, Goodship, J, Abu-Sulaiman, R, Klaassen, S, Wright, C, Firth, H, Barrett, J, Devriendt, K, FitzPatrick, D, Brook, J, Hurles, M

Changes in health in England, with analysis by English regions and areas of deprivation, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013 حسب Newton, J, Briggs, A, Murray, C, Dicker, D, Foreman, K, Wang, H, Naghavi, M, Forouzanfar, M, Ohno, S, Barber, R, Vos, T, Stanaway, J, Schmidt, J, Hughes, A, Fay, D, Ecob, R, Gresser, C, McKee, M, Rutter, H, Abubakar, I, Ali, R, Anderson, H, Banerjee, A, Bennett, D, Bernabé, E, Bhui, K, Biryukov, S, Bourne, R, Brayne, C, Bruce, N, Brugha, T, Burch, M, Capewell, S, Casey, D, Chowdhury, R, Coates, M, Cooper, C, Critchley, J, Dargan, P, Dherani, M, Elliott, P, Ezzati, M, Fenton, K, Fraser, M, Fürst, T, Greaves, F, Green, M, Gunnell, D, Hannigan, B, Hay, R, Hay, S, Hemingway, H, Larson, H, Looker, K, Lunevicius, R, Lyons, R, Marcenes, W, Mason-Jones, A, Matthews, F, Moller, H, Murdoch, M, Newton, C, Pearce, N, Piel, F, Pope, D, Rahimi, K, Rodriguez, A, Scarborough, P, Schumacher, A, Shiue, I, Smeeth, L, Tedstone, A, Valabhji, J, Williams, H, Wolfe, C, Woolf, A, Davis, A