Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Rachel Soemedi, Ana Topf, Ian J. Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya, Catherine Cosgrove, J. David Brook, Javier Granados-riveron, Kerry Setchfield, Frances Bu'Lock, Chris Thornborough, Koenraad Devriendt, Jeroen Breckpot, Michael Hofbeck, Mark LathropAnita Rauch, Gillian M. Blue, David S. Winlaw, Matthew Hurles, Mauro Santibanez-koref, Heather J. Cordell, Judith A. Goodship, Bernard D. Keavney

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    Biochemistry, Genetics and Molecular Biology