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Rare variants in NR2F2 cause congenital heart defects in humans. by Al Turki, S, Manickaraj, A, Mercer, C, Gerety, S, Hitz, M, Lindsay, S, D'Alessandro, L, Swaminathan, G, Bentham, J, Arndt, A, Low, J, Breckpot, J, Gewillig, M, Thienpont, B, Abdul-Khaliq, H, Harnack, C, Hoff, K, Kramer, H, Schubert, S, Siebert, R, Toka, O, Cosgrove, C, Watkins, H, Lucassen, A, O'Kelly, I, Salmon, A, Bu'lock, F, Granados-Riveron, J, Setchfield, K, Thornborough, C, Brook, J, Mulder, B, Klaassen, S, Bhattacharya, S, Devriendt, K, Fitzpatrick, D, Wilson, D, Mital, S, Hurles, M
Published 2014Journal article -
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Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative by Nellåker, C, Alkuraya, FS, Baynam, G, Bernier, RA, Bernier, FPJ, Boulanger, V, Brudno, M, Brunner, HG, Clayton-Smith, J, Cogné, B, Dawkins, HJS, Devries, BBA, Douzgou, S, Dudding-Byth, T, Eichler, EE, Ferlaino, M, Fieggen, K, Firth, HV, Fitzpatrick, DR, Gration, D, Groza, T, Haendel, M, Hallowell, N, Hamosh, A, Hehir-Kwa, J, Hitz, M-P, Hughes, M, Kini, U, Kleefstra, T, Kooy, RF, Krawitz, P, Küry, S, Lees, M, Lyon, GJ, Lyonnet, S, Marcadier, JL, Meyn, S, Moslerová, V, Politei, JM, Poulton, CC, Raymond, FL, Reijnders, MRF, Robinson, PN, Romano, C, Rose, CM, Sainsbury, DCG, Schofield, L, Sutton, VR, Turnovec, M, Van Dijck, A, Van Esch, H, Wilkie, AOM
Published 2019Journal article -
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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
Published 2016Journal article