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Links from MedGen

Items: 5

1.
Exome Sequencing Identifies Rare Variants in Multiple Genes in Atrioventricular Septal Defect
Lisa C.A. D’Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, Dorin Manase, Barbara J.M. Mulder, Lynn Bergin, Herschel C. Rosenberg, Tapas Mondal, Elaine Gordon, Jane Lougheed, John Smythe, Koen Devriendt, UK10K Consortium, Shoumo Bhattacharya, Hugh Watkins, Jamie Bentham, Sarah Bowdin, Matthew E. Hurles, Seema Mital
Genet Med. Author manuscript; available in PMC 2018 Jun 5.
Published in final edited form as: Genet Med. 2016 Feb; 18(2): 189–198. Published online 2015 May 21. doi: 10.1038/gim.2015.60
PMCID:
PMC5988035
AbstractArticlePDF–280K
2.
Human gene copy number spectra analysis in congenital heart malformations
Aoy Tomita-Mitchell, Donna K. Mahnke, Craig A. Struble, Maureen E. Tuffnell, Karl D. Stamm, Mats Hidestrand, Susan E. Harris, Mary A. Goetsch, Pippa M. Simpson, David P. Bick, Ulrich Broeckel, Andrew N. Pelech, James S. Tweddell, Michael E. Mitchell
Physiol Genomics. 2012 May 1; 44(9): 518–541. Published online 2012 Feb 7. doi: 10.1152/physiolgenomics.00013.2012
PMCID:
PMC3426426
AbstractArticle
3.
A Genetic Contribution to Risk for Postoperative Junctional Ectopic Tachycardia in Children Undergoing Surgery for Congenital Heart Disease
Kristie Y. Borgman, Andrew H. Smith, Jill P. Owen, Frank A. Fish, Prince J. Kannankeril
Heart Rhythm. Author manuscript; available in PMC 2012 Dec 1.
Published in final edited form as: Heart Rhythm. 2011 Dec; 8(12): 1900–1904. Published online 2011 Jul 6. doi: 10.1016/j.hrthm.2011.06.033
PMCID:
PMC3215859
AbstractArticlePDF–59K
4.
Identification of GATA6 sequence variants in patients with congenital heart defects
Meenakshi Maitra, Sara N. Koenig, Deepak Srivastava, Vidu Garg
Pediatr Res. Author manuscript; available in PMC 2011 Oct 1.
Published in final edited form as: Pediatr Res. 2010 Oct; 68(4): 281–285. doi: 10.1203/PDR.0b013e3181ed17e4
PMCID:
PMC2940936
AbstractArticlePDF–3.0M
5.
Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study
C Tennstedt, R Chaoui, H Korner, M Dietel
Heart. 1999 Jul; 82(1): 34–39. doi: 10.1136/hrt.82.1.34
PMCID:
PMC1729082
SummaryPDF–97K

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