Showing 1 - 8 results of 8 for search 'Breckpot, J', query time: 0.04s
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Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings by Louw, J, Nunes Bastos, R, Chen, X, Verdood, C, Corveleyn, A, Jia, Y, Breckpot, J, Gewillig, M, Peeters, H, Santoro, M, Barr, F, Devriendt, K
Published 2018Journal article -
2
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease by Soemedi, R, Wilson, I, Bentham, J, Darlay, R, Töpf, A, Zelenika, D, Cosgrove, C, Setchfield, K, Thornborough, C, Granados-Riveron, J, Blue, G, Breckpot, J, Hellens, S, Zwolinkski, S, Glen, E, Mamasoula, C, Rahman, T, Hall, D, Rauch, A, Devriendt, K, Gewillig, M, O'sullivan, J, Winlaw, D, Bu'lock, F, Brook, J
Published 2012Journal article -
3
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. by Soemedi, R, Wilson, I, Bentham, J, Darlay, R, Töpf, A, Zelenika, D, Cosgrove, C, Setchfield, K, Thornborough, C, Granados-Riveron, J, Blue, G, Breckpot, J, Hellens, S, Zwolinkski, S, Glen, E, Mamasoula, C, Rahman, T, Hall, D, Rauch, A, Devriendt, K, Gewillig, M, O' Sullivan, J, Winlaw, D, Bu'Lock, F, Brook, J
Published 2012Journal article -
4
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. by Cordell, H, Bentham, J, Topf, A, Zelenika, D, Heath, S, Mamasoula, C, Cosgrove, C, Blue, G, Granados-Riveron, J, Setchfield, K, Thornborough, C, Breckpot, J, Soemedi, R, Martin, R, Rahman, T, Hall, D, van Engelen, K, Moorman, A, Zwinderman, A, Barnett, P, Koopmann, T, Adriaens, M, Varro, A, George, A, dos Remedios, C
Published 2013Journal article -
5
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 by Cordell, H, Bentham, J, Topf, A, Zelenika, D, Heath, S, Mamasoula, C, Cosgrove, C, Blue, G, Granados-Riveron, J, Setchfield, K, Thornborough, C, Breckpot, J, Soemedi, R, Martin, R, Rahman, T, Hall, D, Van Engelen, K, Moorman, A, Zwinderman, A, Barnett, P, Koopmann, T, Adriaens, M, Varro, A, George, A, Dos Remedios, C
Published 2013Journal article -
6
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. by Soemedi, R, Topf, A, Wilson, I, Darlay, R, Rahman, T, Glen, E, Hall, D, Huang, N, Bentham, J, Bhattacharya, S, Cosgrove, C, Brook, J, Granados-Riveron, J, Setchfield, K, Bu'lock, F, Thornborough, C, Devriendt, K, Breckpot, J, Hofbeck, M, Lathrop, M, Rauch, A, Blue, G, Winlaw, D, Hurles, M, Santibanez-Koref, M
Published 2012Journal article -
7
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 -
8
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