| 1 | ASD3, MYH6
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| Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
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| Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Özcelik C.
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| PLoS One 6(12):e28872. doi: 10.1371/journal.pone.0028872. Epub 2011 Dec 14.
2011
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| 2 | ASD3, MYH6
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| Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.
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| Granados-Riveron JT, Ghosh TK, Pope M, Bu'Lock F, Thornborough C, Eason J, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Armour JA, David Brook J.
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| Hum Mol Genet 19(20):4007-16. Epub 2010 Jul 23.
2010
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| 3 | ASD2, ASD3, GATA4, ICHD, JAG1, MYH6, NKX2-5, NOTCH1, TBX1, TBX20, TBX5, TFAP2B, THRAP2
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| The developmental genetics of congenital heart disease.
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| Bruneau BG.
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| Nature 451(7181):943-8. 2008
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| 4 | ACTA2, ACTC1, ASD3, ASD5, CMD1R, CMD1S, CMH1, CMH6, CMHNE, MYBPC3, MYH11, MYH6, MYH7, TAAD1, TAAD4
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| Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
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| Wessels MW, Willems PJ.
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| Clin Genet 74(1):16-9. Epub 2008 Apr 8. 2008
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| 5 | ASD3, MYH6
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| Mutation in myosin heavy chain 6 causes atrial septal defect.
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| Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD.
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| Nat Genet 37(4):423-8. Epub 2005 Feb 27. 2005
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| 6 | MYH6, ASD3
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| A new mutation linked to atrial septal defect.
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| Stein R.
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| Clin Genet 68(2):114-116. No abstract available. 2005
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