Last Updated: 09/26/2026
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Found 22 publications
Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers.
Journal: American journal of medical genetics. Part A
Published: December 19, 2025
Genome-wide association studies of Down syndrome associated congenital heart defects.
Journal: medRxiv : the preprint server for health sciences
Published: September 16, 2024
Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS.
Journal: Genetic epidemiology
Published: September 06, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Journal: American journal of medical genetics. Part A
Published: October 17, 2023
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
Journal: Journal of the American Heart Association
Published: September 08, 2023
A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices.
Journal: Genetics in medicine open
Published: March 29, 2023
Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.
Journal: American journal of medical genetics. Part A
Published: March 07, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: October 28, 2021
Thirty-Year Survival after Cardiac Surgery for Patients with Turner Syndrome.
Journal: The Journal of pediatrics
Published: May 10, 2021
Frequency of Ventricular Arrhythmias and Other Rhythm Abnormalities in Children and Young Adults With the Marfan Syndrome.
Journal: The American journal of cardiology
Published: April 16, 2018
Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome.
Journal: Pediatric cardiology
Published: December 22, 2017
PRKAG2 mutations presenting in infancy.
Journal: Journal of inherited metabolic disease
Published: April 30, 2017
Last Updated: 09/26/2026