Research Topics
Genomes and GenesSpecies | Elizabeth GoldmuntzSummaryAffiliation: The Children's Hospital of Philadelphia Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)Nadja Muncke
Institut fur Humangenetik, Universitat Heidelberg, INF 366, 69120 Heidelberg, Germany
BMC Med Genet 6:20. 2005..TGA accounts for 5-7% of all congenital heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent cyanotic heart defect diagnosed in the neonatal period...- Frequency of 22q11 deletions in patients with conotruncal defectsE Goldmuntz
The Children s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, 19104, USA
J Am Coll Cardiol 32:492-8. 1998.... - Variants of folate metabolism genes and the risk of conotruncal cardiac defectsElizabeth Goldmuntz
Division of Cardiology, Department of Pediatrics, The Children s Hospital of Philadelphia, PA 19104 4318, USA
Circ Cardiovasc Genet 1:126-32. 2008..However, efforts to establish the relationships between these factors and CHD risk have been hampered by a number of factors including small study sample sizes and phenotypic heterogeneity... - DiGeorge syndrome: new insightsElizabeth Goldmuntz
Division of Cardiology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Abramson Research Center 702A, 3615 Civic Center Boulevard, Philadelphia, PA 19104 4318, USA
Clin Perinatol 32:963-78, ix-x. 2005..Routine testing for a 22q11 deletion in this subset of patients should be considered to provide anticipatory medical intervention and appropriate family counseling... - The genetic contribution to congenital heart diseaseElizabeth Goldmuntz
The University of Pennsylvania School of Medicine, The Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA
Pediatr Clin North Am 51:1721-37, x. 2004..This article reviews the more recent findings on the genetic basis of congenital cardiovascular disease and highlights the clinical applications of these discoveries... - Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosisRobert C Bauer
Department of Pediatrics, The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
Hum Mutat 31:594-601. 2010..Patients with right-sided cardiac defects should be carefully screened for features of AGS or a family history of cardiac defects that might suggest the presence of a JAG1 mutation... - Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndromeDoff B McElhinney
Division of Cardiology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104 4318, USA
Circulation 106:2567-74. 2002.... - NKX2.5 mutations in patients with congenital heart diseaseDoff B McElhinney
The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
J Am Coll Cardiol 42:1650-5. 2003..The purpose of this study was to estimate the frequency of NKX2.5 mutations in specific cardiovascular anomalies and investigate genotype-phenotype correlations in individuals with NKX2.5 mutations... - Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndromeElizabeth Goldmuntz
Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
Birth Defects Res A Clin Mol Teratol 85:125-9. 2009..2 deletion... - Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomaliesElizabeth Goldmuntz
Divisions of Cardiology Human Genetics Oncology Center for Applied Genomics Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
Congenit Heart Dis 6:592-602. 2011.... - Aortic root dilation in patients with 22q11.2 deletion syndromeAnitha S John
Division of Cardiology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet A 149:939-42. 2009..2 deletion that may be of clinical importance. Further long-term study is warranted to assess the need for echocardiographic screening in the 22q11.2 deleted population for aortic root dilation into adolescence and adulthood... - The cardiovascular manifestations of Alagille syndrome and JAGI mutationsElizabeth Goldmuntz
The Division of Cardiology, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA
Methods Mol Med 126:217-31. 2006.... - Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletionTiffanie R Johnson
Division of Pediatric Cardiology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Am J Cardiol 96:1726-30. 2005..All MRI findings were abnormal, and in 16 of 17 cases, echocardiography was unable to define aortic arch anomalies correctly compared with MRI... - Adults with genetic syndromes and cardiovascular abnormalities: clinical history and managementAngela E Lin
Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
Genet Med 10:469-94. 2008..New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome... - Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndromeDoff B McElhinney
Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Medical Center, 3516 Civic Center Boulevard, Philadelphia, PA 19104, USA
Am J Med Genet 113:238-41. 2002..In the newborn with Down syndrome, the potential benefits of early diagnosis, in the context of physical examination findings, should be considered in determining whether an echocardiogram should be performed in the neonatal period... - Chromosomal and cardiovascular anomalies associated with congenital laryngeal webDoff B McElhinney
Division of Pediatric Cardiology, The Children's Hospital of Philadelphia, Abramson Research Center 702A, 3516 Civic Center Blvd, Philadelphia, PA 19104-4318, USA
Int J Pediatr Otorhinolaryngol 66:23-27. 2002..Particular attention should be paid to identifying patients with the triad of a congenital laryngeal web, a chromosome 22q11 deletion, and cardiovascular anomalies, particularly a vascular ring... - The 22q11.2 deletion in African-American patients: an underdiagnosed population?Donna M McDonald-McGinn
Division of Human Genetics and Molecular Biology, The Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA
Am J Med Genet A 134:242-6. 2005..We, therefore, suggest that the clinician's threshold of suspicion should be lower in African-American patients... - Differential branch pulmonary artery regurgitant fraction is a function of differential pulmonary arterial anatomy and pulmonary vascular resistanceMatthew A Harris
University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
JACC Cardiovasc Imaging 4:506-13. 2011..We sought to investigate whether differential branch pulmonary artery (BPA) regurgitation correlates with differences in BPA anatomy and physiology... - CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricleElizabeth Goldmuntz
Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
Am J Hum Genet 70:776-80. 2002..In addition, these results demonstrate that the molecular pathway involving CFC1 plays a critical role in normal and abnormal cardiovascular development... - Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysisKathryn C Chatfield
Department of Pediatrics, Section of Pediatric Cardiology, The Children s Hospital of Colorado, Denver, Colorado Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
Am J Med Genet A 158:2499-505. 2012..This study evaluates the trends of CHD seen in the CdLS population and correlates these findings with genotype. © 2012 Wiley Periodicals, Inc... - High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applicationsTamim H Shaikh
Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Genome Res 19:1682-90. 2009..Together, this analysis and annotation provides a useful resource to assist with the assessment of CNVs in the contexts of human variation, disease susceptibility, and clinical molecular diagnostics... - Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries)Nadja Muncke
Institut fur Humangenetik, Universitat Heidelberg, Heidelberg, Germany
Circulation 108:2843-50. 2003..TGA represents a septation defect of the common outflow tract of the heart, manifesting around the fifth week during embryonic development. Despite its high prevalence, very little is known about the pathogenesis of this disease... - Genetic counseling for congenital heart disease: new approaches for a new decadeKaty Hoess
Maloney 538, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA
Curr Cardiol Rep 4:68-75. 2002..The practicing cardiologist needs to continue to stay abreast of genetic discoveries in the field of CHD in order to provide proper management, including genetic counseling, to patients and their families... - Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomaliesDoff B McElhinney
Cardiology, Children's Hospital of Philadelphia, Pennsylvania 19104-4318, USA
Pediatrics 112:e472. 2003..Testing of patients with these types of VSD but a normal aortic arch and pulmonary arteries may be performed routinely or guided by the presence of associated noncardiovascular features of chromosome 22q11 deletion syndrome... - Spectrum of heart disease associated with murine and human GATA4 mutationSatish K Rajagopal
Department of Cardiology, Children s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA
J Mol Cell Cardiol 43:677-85. 2007..Additional studies will be required to determine the degree to which GATA4 mutation contributes to human CHD characterized by ECD or RV hypoplasia...
Research Grants
- The Genetic Etiology of Conotruncal Cardiac DefectsElizabeth Goldmuntz; Fiscal Year: 2007..With this data, the impact of genotype on clinical outcome can be assessed and improved management strategies devised for the future. ..
- The Genetic Etiology of Left-Sided Cardiac DefectsElizabeth Goldmuntz; Fiscal Year: 2007..In addition, these investigations will lead to future studies that assess the relationship of genotype to clinical outcome, and allow us to improve upon our clinical management accordingly. ..