Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. by 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. by 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. by 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. by 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. by 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 by 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) by 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 by 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 by 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. by 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 by 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