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E. Goldmuntz · SciRah

Researcher profile · Semantic Scholar

E. Goldmuntz

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E. Goldmuntz — researcher profile on SciRah

h-index: 63
Works: 278
Citations: 15K

Most-cited papers

Genomic analyses implicate noncoding de novo variants in congenital heart disease
Felix Richter, S. Morton, Seong Won Kim, A. Kitaygorodsky +31 more
2020Nature Genetics145 citations Open access
Semantic Scholar
22q11.2 deletion syndrome and congenital heart disease
E. Goldmuntz
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics126 citations
Semantic Scholar
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
W. Watkins, E. Hernandez, S. Wesołowski, Brent W. Bisgrove +16 more
2019Nature Communications75 citations Open access
Semantic Scholar
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Yun Li, J. Glessner, Bradley P. Coe, Jin Li +37 more
2020Nature Communications74 citations Open access
Semantic Scholar
Two-Year Outcomes after Complete or Staged Procedure for Tetralogy of Fallot in Neonates
J. Savla, J. Faerber, Yuan-Shung V. Huang, T. Zaoutis +3 more
2019Journal of the American College of Cardiology61 citations Open access
Semantic Scholar
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Yingjie Zhao, Alexander Diacou, H. R. Johnston, Fadi I Musfee +47 more
2019American Journal of Human Genetics59 citations Open access
Semantic Scholar
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease
S. Morton, A. Shimamura, P. Newburger, A. Opotowsky +19 more
2020JAMA cardiology51 citations Open access
Semantic Scholar
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm
Arun Sharma, Lauren K. Wasson, Jon A. L. Willcox, S. Morton +23 more
2020eLife44 citations Open access
Semantic Scholar
Robust identification of mosaic variants in congenital heart disease
K. B. Manheimer, Felix Richter, L. Edelmann, S. D'Souza +14 more
2018Human Genetics44 citations Open access
Semantic Scholar
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency
Tarsha L. Ward, Warren Tai, S. Morton, F. Impens +28 more
2021Circulation Research42 citations Open access
Semantic Scholar
De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease
Marko T. Boskovski, Jason Homsy, Meena Nathan, L. Sleeper +29 more
2020Circulation Genomic and Precision Medicine38 citations Open access
Semantic Scholar
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Rosalind Verheije, G. Kupchik, B. Isidor, H. Kroes +41 more
2018European Journal of Human Genetics38 citations Open access
Semantic Scholar
Staged versus Complete Repair in the Symptomatic Neonate with Tetralogy of Fallot
J. Bailey, O. Elci, C. Mascio, L. Mercer-Rosa +1 more
2019Annals of Thoracic Surgery33 citations Open access
Semantic Scholar
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles
Alejandro Martin-Trujillo, N. Patel, Felix Richter, Bharati Jadhav +17 more
2020PLoS Genetics29 citations Open access
Semantic Scholar
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
Alexander Hsieh, S. Morton, Jon A. L. Willcox, J. Gorham +20 more
2020Genome Medicine29 citations Open access
Semantic Scholar
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
M. Sierant, Sheng-Chih Jin, K. Bilguvar, S. Morton +42 more
2025Proceedings of the National Academy of Sciences of the United States of America25 citations Open access
Semantic Scholar
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries
Doris Škorić-Milosavljević, R. Tadros, F. Bosada, F. Tessadori +76 more
2021Circulation Research25 citations Open access
Semantic Scholar
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects
J. Edwards, Andrew D. Rouillard, Nicolas F. Fernandez, Zi-Chen Wang +22 more
2020JACC: Basic to Translational Science25 citations Open access
Semantic Scholar
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
J. Meester, Silke Peeters, Lotte J. F. Van Den Heuvel, G. Vandeweyer +23 more
2022Genetics in Medicine24 citations Open access
Semantic Scholar
Identifying Risk Factors for Complicated Post-operative Course in Tetralogy of Fallot Using a Machine Learning Approach
J. Faerber, Jing Huang, Xue-Mei Zhang, Lihai Song +8 more
2021Frontiers in Cardiovascular Medicine20 citations Open access
Semantic Scholar
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
Cristina E. Trevino, Aaron M. Holleman, Holly Corbitt, C. Maslen +22 more
2020Scientific Reports20 citations Open access
Semantic Scholar
Resource 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
M. O'Byrne, G. DeCost, H. Katcoff, J. Savla +6 more
2020Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease20 citations Open access
Semantic Scholar
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study
Emily L. Griffin, S. Nees, S. Morton, J. Wynn +26 more
2023Circulation Genomic and Precision Medicine19 citations Open access
Semantic Scholar
Late effects in survivors of high‐risk neuroblastoma following stem cell transplant with and without total body irradiation
W. Hobbie, Yi-Mei Li, Claire Carlson, S. Goldfarb +9 more
2021Pediatric Blood & Cancer18 citations
Semantic Scholar
Trichothiodystrophy
Satish R. Raj, S. R. Wayne Chen, R. Sheldon, A. Shah +114 more
2020Definitions17 citations Open access
Semantic Scholar
Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects
Anshuman Sewda, A J Agopian, E. Goldmuntz, H. Hakonarson +3 more
2019PLoS ONE17 citations Open access
Semantic Scholar
Determinants of Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Using Stress Echocardiography
Shivani M Bhatt, O. Elci, Yan Wang, E. Goldmuntz +3 more
2018Pediatric Cardiology17 citations Open access
Semantic Scholar
Recessive genetic contribution to congenital heart disease in 5,424 probands
W. Dong, Sheng-Chih Jin, M. Sierant, Zi-Yu Lu +35 more
2025Proceedings of the National Academy of Sciences of the United States of America16 citations Open access
Semantic Scholar
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease
S. Morton, A. Norris-Brilliant, Sean Cunningham, E. King +28 more
2023JAMA Network Open16 citations Open access
Semantic Scholar
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
L. Freud, Stephanie N. Galloway, T. Crowley, J. Moldenhauer +58 more
2023American Journal of Obstetrics and Gynecology13 citations Open access
Semantic Scholar
Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome
S. L. Van Driest, L. Sleeper, B. Gelb, S. Morris +20 more
2020Jornal de Pediatria13 citations Open access
Semantic Scholar
Cardiac evaluation of patients with 22q11.2 duplication syndrome
Adam Butensky, Chiara Pandolfi Rinaldis, Shrey Patel, Sharon Edman +7 more
2020American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
An Oligogenic Architecture of Rare Noncoding Variants Distinguishes Four Congenital Heart Disease Phenotypes
Meng-Yao Yu, Matthew Aguirre, Mei-Wen Jia, Ketrin Gjoni +24 more
2023Circulation Genomic and Precision Medicine11 citations Open access
Semantic Scholar
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Yingjie Zhao, Yu-Jue Wang, Lijie Shi, D. McDonald-McGinn +48 more
2023npj Genomic Medicine11 citations Open access
Semantic Scholar
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease
Min-Young Jang, Parth N. Patel, Alexandre C. Pereira, Jon A. L. Willcox +22 more
2023Circulation Genomic and Precision Medicine11 citations Open access
Semantic Scholar
Genetic variants of HIF1α are associated with right ventricular fibrotic load in repaired tetralogy of Fallot patients: a cardiovascular magnetic resonance study
Thanh T. Hoang, P. Manso, Sharon Edman, L. Mercer-Rosa +6 more
2019Journal of Cardiovascular Magnetic Resonance11 citations Open access
Semantic Scholar
Comparison of serum biomarkers of myocardial fibrosis with cardiac magnetic resonance in patients operated for tetralogy of Fallot
Michael P. Dilorenzo, G. DeCost, A. Mai, Nkecha Hughes +4 more
2022International Journal of Cardiology10 citations Open access
Semantic Scholar
Genome-Wide de novo Variants in Congenital Heart Disease Are Not Associated with Maternal Diabetes or Obesity
S. Morton, Alexandre C. Pereira, D. Quiat, Felix Richter +16 more
2022Circulation Genomic and Precision Medicine10 citations Open access
Semantic Scholar
Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects
Anshuman Sewda, A J Agopian, E. Goldmuntz, H. Hakonarson +4 more
2020PLoS ONE10 citations Open access
Semantic Scholar
Cerebrovascular Malformations in a Pediatric Hereditary Hemorrhagic Telangiectasia Cohort.
L. Beslow, Jake Breimann, D. Licht, J. Waldman +4 more
2020Pediatric Neurology10 citations
Semantic Scholar
The association of elevated maternal genetic risk scores for hypertension, type 2 diabetes and obesity and having a child with a congenital heart defect
M. Kaplinski, Deanne M. Taylor, L. Mitchell, Dorothy A. Hammond +2 more
2019PLoS ONE10 citations Open access
Semantic Scholar
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation
E. Goldmuntz, A. Bassett, Erik Boot, Bruno Marino +7 more
2024Prenatal Diagnosis9 citations Open access
Semantic Scholar
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study
Hayley A Ron, T. Crowley, Yi-Chuan Liu, Marta Unolt +10 more
2022Genes9 citations Open access
Semantic Scholar
Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies
Chiara Pandolfi de Rinaldis, Adam Butensky, Shrey Patel, Sharon Edman +8 more
2021Pediatric Cardiology9 citations
Semantic Scholar
Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease
Thomas A. Miller, E. J. Hernandez, J. Gaynor, M. W. Russell +19 more
2023Communications Medicine8 citations Open access
Semantic Scholar
Invited Commentary: The Hunt for Mechanistic Origins of Liver Fibrosis in the Fontan Circulation
J. Rychik, E. Goldmuntz
2021World journal for pediatric & congenital heart surgery8 citations
Semantic Scholar
Surgical resection of diffuse pulmonary arteriovenous malformations (PAVMs)
Aden R. Falk, Lindsay J. Nitsche, Colleen E. Bontrager, Sarah Bond +8 more
2024JTCVS Open7 citations Open access
Semantic Scholar
Neither cardiac mitochondrial DNA variation or copy number contribute to congenital heart disease risk.
Jon A. L. Willcox, Joshua T. Geiger, S. Morton, D. McKean +19 more
2022American Journal of Human Genetics7 citations Open access
Semantic Scholar
Marked skeletal muscle deficits are associated with 6-minute walk distance in paediatric pulmonary hypertension
C. Avitabile, Sofia Saavedra, N. Sivakumar, E. Goldmuntz +2 more
2021Cardiology in the Young7 citations
Semantic Scholar
Early Post-Operative Remodeling Following Repair of Tetralogy of Fallot Utilizing Unsedated Cardiac Magnetic Resonance: a Pilot Study
Michael P. Dilorenzo, E. Goldmuntz, S. Nicolson, M. Fogel +1 more
2018Cardiology in the Young7 citations Open access
Semantic Scholar

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