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An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
Am J Hum Genet. 2012 Oct 5;91(4):646-59. doi: 10.1016/j.ajhg.2012.08.017.
Am J Hum Genet. 2012.
PMID: 23040494
Free PMC article.
Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects.
Redig JK, Fouad GT, Babcock D, Reshey B, Feingold E, Reeves RH, Maslen CL.
Redig JK, et al. Among authors: reshey b.
AIMS Genet. 2014;1(1):1-19. doi: 10.3934/genet.2014.1.1#sthash.jksuJTeC.dpuf.
AIMS Genet. 2014.
PMID: 25328912
Free PMC article.
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Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.
Li H, Cherry S, Klinedinst D, DeLeon V, Redig J, Reshey B, Chin MT, Sherman SL, Maslen CL, Reeves RH.
Li H, et al. Among authors: reshey b.
Circ Cardiovasc Genet. 2012 Jun;5(3):301-8. doi: 10.1161/CIRCGENETICS.111.960872. Epub 2012 Apr 20.
Circ Cardiovasc Genet. 2012.
PMID: 22523272
Free PMC article.
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ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.
Joziasse IC, Smith KA, Chocron S, van Dinther M, Guryev V, van de Smagt JJ, Cuppen E, Ten Dijke P, Mulder BJ, Maslen CL, Reshey B, Doevendans PA, Bakkers J.
Joziasse IC, et al. Among authors: reshey b.
Eur J Hum Genet. 2011 Apr;19(4):389-93. doi: 10.1038/ejhg.2010.224. Epub 2011 Jan 19.
Eur J Hum Genet. 2011.
PMID: 21248739
Free PMC article.
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