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Author Details

Elizabeth Goldmuntz
1993
189
52
PMIDPaper TitleJournal TitlePublished Year
37717890Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.Am J Obstet Gynecol2024
38009418Association of genetic and sulcal traits with executive function in congenital heart disease.Ann Clin Transl Neurol2024
37165897Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.Circ Genom Precis Med2023
37758840Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease.Commun Med (Lond)2023
36701153Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.JAMA Netw Open2023
36866680Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease.Circ Genom Precis Med2023
36803080Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.Circ Genom Precis Med2023
36797379Biomarkers, Socioeconomic Factors, and Right Ventricular Function After Surgical Repair for Tetralogy of Fallot.2023
35345810Maternal effect genes as risk factors for congenital heart defects.HGG Adv2022
35397206Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.Am J Hum Genet2022
35487317Comparison of serum biomarkers of myocardial fibrosis with cardiac magnetic resonance in patients operated for tetralogy of Fallot.International Journal of Cardiology2022
35917284Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox.Circulation. Genomic and precision medicine2022
36672801Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.Genes (Basel)2022
34971017Late effects in survivors of high-risk neuroblastoma following stem cell transplant with and without total body irradiation.Pediatr Blood Cancer2022
35151364Gene-Interaction-Sensitive enrichment analysis in congenital heart disease.BioData Min2022
34886679Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.Circ Res2022
35130025Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.Circ Genom Precis Med2022
35058154Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.Genet Med2022
35086170Right Ventricular Strain Is Associated With Increased Length of Stay After Tetralogy of Fallot Repair.Journal of Cardiovascular Imaging2022
34368247Identifying Risk Factors for Complicated Post-operative Course in Tetralogy of Fallot Using a Machine Learning Approach.Front Cardiovasc Med2021
34128123Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies.Pediatr Cardiol2021
34285246Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.Sci Rep2021
33684002Invited Commentary: The Hunt for Mechanistic Origins of Liver Fibrosis in the Fontan Circulation.World journal for pediatric & congenital heart surgery2021
33568240Marked skeletal muscle deficits are associated with 6-minute walk distance in paediatric pulmonary hypertension.Cardiol Young2021
33557580Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.Circ Res2021
33925651Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects.Genes (Basel)2021
34356046Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.Genes (Basel)2021
33369133Cardiac evaluation of patients with 22q11.2 duplication syndrome.Am J Med Genet A2021
34776030Reported practice patterns in the ambulatory care setting for patients with CHD.Cardiology in the Young2021
34537310Exercise is medicine in the Fontan circulation.International Journal of Cardiology2021
32718529Cerebrovascular Malformations in a Pediatric Hereditary Hemorrhagic Telangiectasia Cohort.Pediatr Neurol2020
32198970NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.American Journal of Medical Genetics, Part A2020
32368696Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.JACC Basic Transl Sci2020
31783017Staged Versus Complete Repair in the Symptomatic Neonate With Tetralogy of Fallot.Annals of Thoracic Surgery2020
31729158X-chromosome association studies of congenital heart defects.Am J Med Genet A2020
31937769Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.Nat Commun2020
3204943322q11.2 deletion syndrome and congenital heart disease.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics2020
31870554Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.Am J Hum Genet2020
32601476Genomic analyses implicate noncoding de novo variants in congenital heart disease.Nat Genet2020
32812804De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.Circ Genom Precis Med2020
32586526Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome.J Pediatr2020
32691679Resource Utilization in the First 2 Years Following Operative Correction for Tetralogy of Fallot: Study Using Data From the Optum's De-Identified Clinformatics Data Mart Insurance Claims Database.J Am Heart Assoc2020
32516339Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.PLoS One2020
33216750Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.PLoS Genet2020
33054971<i>GATA6</i> mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.Elife2020
315372672-Year Outcomes After Complete or Staged Procedure for Tetralogy of Fallot in Neonates.Journal of the American College of Cardiology2019
30269912Right Ventricular Contractile Reserve Is Impaired in Children and Adolescents With Repaired Tetralogy of Fallot: An Exercise Strain Imaging Study.J Am Soc Echocardiogr2019
30121867Determinants of Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Using Stress Echocardiography.Pediatr Cardiol2019
30291340Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.Eur J Hum Genet2019
31141530The association of elevated maternal genetic risk scores for hypertension, type 2 diabetes and obesity and having a child with a congenital heart defect.PLoS ONE2019
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