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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. Homsy J, et al. Among authors: goldmuntz e. Science. 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396. Science. 2015. PMID: 26785492 Free PMC article.
NKX2.5 mutations in patients with congenital heart disease.
McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E. McElhinney DB, et al. Among authors: goldmuntz e. J Am Coll Cardiol. 2003 Nov 5;42(9):1650-5. doi: 10.1016/j.jacc.2003.05.004. J Am Coll Cardiol. 2003. PMID: 14607454 Free article.
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
Pierpont ME, Basson CT, Benson DW Jr, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL; American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young. Pierpont ME, et al. Among authors: goldmuntz e. Circulation. 2007 Jun 12;115(23):3015-38. doi: 10.1161/CIRCULATIONAHA.106.183056. Epub 2007 May 22. Circulation. 2007. PMID: 17519398 Review.
GATA4 sequence variants in patients with congenital heart disease.
Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E. Tomita-Mitchell A, et al. Among authors: goldmuntz e. J Med Genet. 2007 Dec;44(12):779-83. doi: 10.1136/jmg.2007.052183. J Med Genet. 2007. PMID: 18055909 Free PMC article.
271 results