Elizabeth Goldmuntz, BA, MD
Associate Professor of Pediatrics at the Children's Hospital of Philadelphia
Department: Pediatrics
Contact information
Abramson Research Center, 702A
Division of Cardiology
Children's Hospital of Philadelphia
3516 Civic Center Boulevard
Philadelphia, PA 19104-4318
Division of Cardiology
Children's Hospital of Philadelphia
3516 Civic Center Boulevard
Philadelphia, PA 19104-4318
Office: 215-590-5820
Email:
goldmuntz@email.chop.edu
goldmuntz@email.chop.edu
Publications
Education:
B.A. (History)
Yale University, 1983.
M.D.
University of Pennsylvania School of Medicine, 1987.
Permanent linkB.A. (History)
Yale University, 1983.
M.D.
University of Pennsylvania School of Medicine, 1987.
Description of CVI Expertise
CVI Program Unit(s):Cardiovascular Development / Congenital Heart Disease
Myocyte Biology / Heart Failure
CVI Research Description:
My research focuses on the genetic basis and modifiers of congenital heart disease, cardiomyopathy and heart failure. We have ascertained a large cohort of patients with congenital heart defects with particular emphasis on patients with conotruncal or left sided defects. Our goal is to identify genetic alterations conferring a risk for CHD and to correlate these findings with clinical outcome. To this end, we are also performing clinical translational studies.
Selected Publications
Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL: Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 72: 1047-1052, 2003.Goldmuntz E: The epidemiology and genetics of hypoplastic left heart syndrome. Cpt 1. The Hypoplastic Left Heart Syndrome. Rychik J and Wernovsky G (eds.). Kluwer Academic Publishers, Page: 1-8, 2003 Notes: Published in Norwell, MA.
Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M: CFC1 mutations in patients with transposition of the great arteries and double outlet right ventricle. Am J Hum Genet 70: 776-780, 2002.
McElhinney DB, Straka M, Goldmuntz E*, Zackai EH*: Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet 113: 238-241, 2002 Notes: (*listed as co-senior authors).
McElhinney DB, Jacobs I, McDonald-McGinn D, Zackai E, Goldmuntz E: Chromosomal and cardiovascular anomalies associated with congenital laryngeal web. Int J Ped Otorhin 66(1): 23-27, 2002.
McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E: Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 106: 2567-2574, 2002.
McDonald-McGinn DM, Driscoll DA, Saitta S, Jawad A, Tonnesen M, Ming JE, Goldmuntz E, Canning D, Spinner N, Emanuel BS, Zackai EH: Guidelines for prenatal detection of the 22q11.2 deletion. Am J Hum Genet 71(4): 198, 2002 Notes: Presented at The American Society of Human Genetics 52nd Annual Meeting, Baltimore, MD, October 2002.
Karkera JD, Roessler E, Ouspenskaia MV, Dela Cruz J, Goldmuntz E, Bowers P, Towbin J, Belmont J, Shen MM, Muenka M: Mutations in the EGF-CFC genes, CFC1 and TDGF1, cause congenital cardiovascular malformations in humans. Am J Hum Genet 71(4): 313, 2002 Notes: Presented at The American Society of Human Genetics 52nd Annual Meeting, Baltimore, MD, October 2002.
Mez JB, Karkera JD, Roessler E, Goldmuntz E, Bowers P, Towbin JA, Belmont J, Ekker SC, Muenka M: Mutations in GDF1 are associated with congenital cardiovascular malformations in humans. Am J Hum Genet 71(4): 318, 2002 Notes: Presented at The American Society of Human Genetics 52nd Annual Meeting, Baltimore, MD, October 2002.
Russell KL, Wernovsky G, Goldmuntz E, Gaynor JW, Krantz ID, Ming JE, Saitta S, McDonald-McGinn DM, Celle L, Spinner NB, Zackai EH: The utility of subtelomeric and chromosome testing in patients with congenital heart defects. Am J Hum Genet 71(4): 340, 2002 Notes: Presented at The American Society of Human Genetics 52nd Annual Meeting, Baltimore, MD, October 2002.
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