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List of works by Elizabeth Goldmuntz

2-Year Outcomes After Complete or Staged Procedure for Tetralogy of Fallot in Neonates

scientific article published on 01 September 2019

22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels

scientific article published on 08 March 2018

22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch

scientific article

22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

scientific article published on 11 January 2013

22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot

scientific article

22q11.2 deletion syndrome and congenital heart disease

scientific article published on 12 February 2020

22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot ⬇️

scientific article published on April 10, 2013

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases

scientific article

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome

scientific article published on 10 January 2013

Adrenergic receptor genotype influences heart failure severity and β-blocker response in children with dilated cardiomyopathy

scientific article

Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options

scientific article published on 7 July 2016

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

scientific article published on July 2008

Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome

scientific article published on 01 November 2002

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.

scientific article published on 26 July 2014

Aortic root dilation in patients with 22q11.2 deletion syndrome.

scientific article published in May 2009

Association between cardiac tumors and tuberous sclerosis in the fetus and neonate

scientific article

Association of Habitual Activity and Body Mass Index in Survivors of Congenital Heart Surgery: A Study of Children and Adolescents With Tetralogy of Fallot, Transposition of the Great Arteries, and Fontan Palliation.

scientific article published in March 2018

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome

scientific article published on 01 October 2018

CANOES: detecting rare copy number variants from whole exome sequencing data

scientific article

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

scientific article

Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion

scientific article published on 02 November 2005

Cerebrovascular Malformations in a Pediatric Hereditary Hemorrhagic Telangiectasia Cohort

scientific article published on 25 May 2020

Chromosomal and cardiovascular anomalies associated with congenital laryngeal web

scientific article published on 01 October 2002

Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies

scientific article published on 01 December 2003

Clinical research careers: reports from a NHLBI pediatric heart network clinical research skills development conference

scientific article (publication date: 2011)

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

scholarly article

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

scientific article published on 20 December 2019

Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis ⬇️

scientific article published on September 10, 2012

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

scientific article published on 16 April 2018

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome

scientific article

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

scientific article published on 9 October 2017

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

scientific article published on 20 June 2019

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

scientific article

Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome

scientific article published on 01 December 2002

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

scientific article

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

scientific article (publication date: February 2016)

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

scientific article published on 17 October 2019

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

scientific article published on December 2015

De novo mutations in histone-modifying genes in congenital heart disease.

scientific article

Deficits in bone density and structure in children and young adults following Fontan palliation

scientific article

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

scientific article

Determinants of Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Using Stress Echocardiography

scientific article published on 18 August 2018

DiGeorge syndrome: new insights

scientific article

Diastolic dysfunction in tetralogy of Fallot: Comparison of echocardiography with catheterization

scientific article published on 13 August 2018

Differential Branch Pulmonary Artery Regurgitant Fraction Is a Function of Differential Pulmonary Arterial Anatomy and Pulmonary Vascular Resistance ⬇️

scientific article published on May 1, 2011

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

scientific article published on 29 April 2020

Early postoperative remodelling following repair of tetralogy of Fallot utilising unsedated cardiac magnetic resonance: a pilot study.

scientific article published on 15 February 2018

Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models ⬇️

scientific article published on October 1, 2011

Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: Conotruncal and left-sided cardiac defects ⬇️

scientific article published on August 24, 2011

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

scientific article

Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot

scientific article

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

scientific article published on 15 October 2020

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects

scientific article published on 09 June 2020

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects

scientific article published on 17 July 2019

Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects

scientific 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 Pedia

scientific article published on 22 May 2007

Genetic counseling for congenital heart disease: new approaches for a new decade

scientific article

Genetic testing in congenital heart disease: ethical considerations

scientific article published in January 2013

Genetic variants of HIF1α are associated with right ventricular fibrotic load in repaired tetralogy of Fallot patients: a cardiovascular magnetic resonance study

scientific article published on 19 August 2019

Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association

scientific article published on 02 December 2013

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

scientific article published on June 2017

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

scientific article published on October 2017

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

scientific article

Genome-wide association study of maternal and inherited loci for conotruncal heart defects

scientific article

Genomic analyses implicate noncoding de novo variants in congenital heart disease

scientific article published on 29 June 2020

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

scientific article

Habitual Exercise Correlates With Exercise Performance in Patients With Conotruncal Abnormalities ⬇️

scientific article published on October 27, 2012

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

scientific article published on 05 October 2018

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

scientific article published on 10 July 2009

Images in cardiovascular medicine. Partial anomalous left pulmonary artery

scientific article published on 01 May 2009

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

scientific article

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis

scientific article

Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma

scientific article

Lean mass deficits, vitamin D status and exercise capacity in children and young adults after Fontan palliation

scientific article

Longitudinal Changes in Right Ventricular Function in Tetralogy of Fallot in the Initial Years after Surgical Repair

scientific article published on 04 April 2018

Longitudinal Validation of the Diastolic to Systolic Time-Velocity Integral Ratio as a Doppler-Derived Measure of Pulmonary Regurgitation in Patients with Repaired Tetralogy of Fallot

scientific article published on 11 November 2016

Longitudinal changes in adolescents with TOF: implications for care

scientific article published on March 2017

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

scientific article published on 27 September 2016

MESP1 Mutations in Patients with Congenital Heart Defects

scientific article published on 23 December 2015

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

scientific article

Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

scientific article published on 24 November 2003

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

scientific article

Morbidity in children and adolescents after surgical correction of interrupted aortic arch

scientific article published on 15 September 2013

Morbidity in children and adolescents after surgical correction of truncus arteriosus communis

scientific article published on 16 July 2013

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation

scientific article published in February 2015

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)

scientific article

Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease

scientific article

NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac defects.

scientific article published on December 2010

NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus

scientific article published on 21 March 2020

NKX2.5mutations in patients with congenital heart disease ⬇️

scientific article published on 01 November 2003

Perioperative Factors Influence the Long-Term Outcomes of Children and Adolescents with Repaired Tetralogy of Fallot

scientific article published on 06 June 2018

Preconceptual Folic Acid Use and Recurrence Risk Counseling for Congenital Heart Disease

scientific article published on 24 July 2014

Predictors of Length of Hospital Stay After Complete Repair for Tetralogy of Fallot: A Prospective Cohort Study.

scientific article published on 16 May 2018

Procollagen type III amino-terminal propeptide: a serum biomarker of left ventricular remodelling in paediatric dilated cardiomyopathy.

scientific article published on 6 November 2013

Quality of Life is Diminished in Patients with Tetralogy of Fallot with Mild Residual Disease: A Comparison of Tetralogy of Fallot and Isolated Valvar Pulmonary Stenosis.

scientific article

Quantifying pulmonary regurgitation and right ventricular function in surgically repaired tetralogy of Fallot: a comparative analysis of echocardiography and magnetic resonance imaging.

scientific article

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

scientific article published on 07 January 2016

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

scientific article published on 14 January 2020

Rare copy number variants in patients with congenital conotruncal heart defects.

scientific article published on 13 February 2017

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

scientific article published on 5 June 2008

Relationship Between Habitual Exercise and Performance on Cardiopulmonary Exercise Testing Differs Between Children With Single and Biventricular Circulations

scientific article published on 23 November 2016

Renin-Angiotensin-Aldosterone Genotype Influences Ventricular Remodeling in Infants With Single Ventricle ⬇️

scientific article published on May 16, 2011

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

scientific article published on 21 July 2020

Revisiting the End-Diastolic Forward Flow (Restrictive Physiology) in Tetralogy of Fallot: An Exercise, Echocardiographic, and Magnetic Resonance Study

scientific article published on 14 March 2018

Right Ventricular Contractile Reserve Is Impaired in Children and Adolescents With Repaired Tetralogy of Fallot: An Exercise Strain Imaging Study

scientific article published on 27 September 2018

Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families.

scientific article published on 26 March 2014

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

scientific article published on 11 March 2018

Robust identification of mosaic variants in congenital heart disease

scientific article published on 7 February 2018

Spectrum of heart disease associated with murine and human GATA4 mutation

scientific journal article

Staged Versus Complete Repair in the Symptomatic Neonate With Tetralogy of Fallot

scientific article published on 26 November 2019

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

scientific article published on 08 April 2020

T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

scientific article published on 27 September 2017

The 22q11.2 deletion in African-American patients: an underdiagnosed population?

scientific article published in April 2005

The Cardiovascular Effects of Obesity on Ventricular Function and Mass in Patients after Tetralogy of Fallot Repair

scientific article published on 29 May 2015

The Congenital Heart Disease Genetic Network Study: Cohort description

scientific article published on 19 January 2018

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results

scientific article published on February 2013

The Impact of the Right Ventricular Outflow Tract Patch on Right Ventricular Strain in Tetralogy of Fallot: A Comparison with Valvar Pulmonary Stenosis Utilizing Cardiac Magnetic Resonance

scientific article published on 31 January 2017

The association of elevated maternal genetic risk scores for hypertension, type 2 diabetes and obesity and having a child with a congenital heart defect.

scientific article published on 29 May 2019

The cardiovascular manifestations of Alagille syndrome and JAGI mutations.

scientific article

The genetic contribution to congenital heart disease

scientific article

The impact of pulmonary insufficiency on the right ventricle: a comparison of isolated valvar pulmonary stenosis and tetralogy of fallot

scientific article

The phenotypic spectrum of ZIC3 mutations includes isolated d‐transposition of the great arteries and double outlet right ventricle ⬇️

scientific article published on February 20, 2013

The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions.

scientific article

Trends in pulmonary valve replacement in children and adults with tetralogy of fallot

scientific article

Tricuspid annular plane systolic excursion in the assessment of right ventricular function in children and adolescents after repair of tetralogy of Fallot

scientific article

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit

scientific article published on 08 September 2016

Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome

scientific article published on 01 July 2020

Variants of folate metabolism genes and risk of left-sided cardiac defects

scientific article

Variants of folate metabolism genes and the risk of conotruncal cardiac defects.

scientific article

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

scientific article published in October 2018

X-chromosome association studies of congenital heart defects

scientific article published on 15 November 2019

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