Elizabeth Goldmuntz

Pediatric Cardiology

3401 Civic Center Blvd
Philadelphia,, PA 19104

Last Updated: 09/26/2026

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Found 154 publications

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: March 27, 2026

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: March 27, 2026

ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element.

ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element.

Journal: Circulation. Genomic and precision medicine

Published: February 16, 2026

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.

Journal: Clinical genetics

Published: October 06, 2025

Corrigendum to Surgical resection of diffuse pulmonary arteriovenous malformations (PAVMs) [JTCVS Open Volume 23, February 2025, Pages 309-317].

Corrigendum to Surgical resection of diffuse pulmonary arteriovenous malformations (PAVMs) [JTCVS Open Volume 23, February 2025, Pages 309-317].

Journal: JTCVS open

Published: September 09, 2025

Circulating Biomarkers are Associated with Impaired Right Ventricular Circumferential and Longitudinal Strain Measured by Cardiac Magnetic Resonance Imaging in Children and Adolescents with Repaired Tetralogy of Fallot.

Circulating Biomarkers are Associated with Impaired Right Ventricular Circumferential and Longitudinal Strain Measured by Cardiac Magnetic Resonance Imaging in Children and Adolescents with Repaired Tetralogy of Fallot.

Journal: Pediatric cardiology

Published: June 06, 2025

Clinical Outcome Prediction Model in Tetralogy of Fallot Without Pulmonary Valve Replacement Using Contraction Fraction From the SCOUT-TOF Registry.

Clinical Outcome Prediction Model in Tetralogy of Fallot Without Pulmonary Valve Replacement Using Contraction Fraction From the SCOUT-TOF Registry.

Journal: Journal of the American Heart Association

Published: May 13, 2025

A novel spliceosomopathy caused by de novo SF3B3 variants.

A novel spliceosomopathy caused by de novo SF3B3 variants.

Journal: Genome medicine

Published: April 26, 2025

Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia.

Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia.

Journal: Journal of clinical medicine

Published: April 02, 2025

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: March 24, 2025

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: March 03, 2025

A pilot study of device-assessed physical activity and ecological momentary assessment among adolescent and young adult survivors of childhood cancer.

A pilot study of device-assessed physical activity and ecological momentary assessment among adolescent and young adult survivors of childhood cancer.

Journal: Annals of behavioral medicine : a publication of the Society of Behavioral Medicine

Published: February 03, 2025

Showing 1-12 of 154

Last Updated: 09/26/2026