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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 18, 2024
. (Total: 63623 Documents since 2012)
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Congenital heart[original query]>>Original Studies[Product Type]
Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Dinali M Ranaweera et al. Clin Lab 2024 70(3)
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The Impact of Integration of a Genetic Clinic Into a Pediatric Cardiac Unit.
Ayman Elfky et al. Cureus 2024 15(12) e50941
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Incremental value of machine learning for risk prediction in tetralogy of Fallot.
Ayako Ishikita et al. Heart 2023
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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak et al. Am J Med Genet A 2023
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Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility.
Sara M Fitzgerald-Butt et al. J Genet Couns 2023
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Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease.
Nephi A Walton et al. Biology (Basel) 2023 12(10)
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Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.
Drayton C Harvey et al. Front Cardiovasc Med 2023 101249605
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Prenatal diagnosis of hypoplastic left heart syndrome on ultrasound using artificial intelligence: How does performance compare to a current screening programme?
Thomas G Day et al. Prenat Diagn 2023
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A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
Benjamin J Landis et al. J Am Heart Assoc 2023 e029340
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A machine learning model for predicting congenital heart defects from administrative data.
Haoming Shi et al. Birth Defects Res 2023
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Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.
Hang Zhou et al. Mol Cytogenet 2023 16(1) 22
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Fetal electrocardiography and artificial intelligence for prenatal detection of congenital heart disease.
Ivar R de Vries et al. Acta Obstet Gynecol Scand 2023
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A Cardiac Deep Learning Model (CDLM) to Predict and Identify the Risk Factor of Congenital Heart Disease.
Prabu Pachiyannan et al. Diagnostics (Basel) 2023 13(13)
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Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Thomas Hays et al. Circ Genom Precis Med 2023 e004050
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Predictors of Human Milk Feeding and Direct Breastfeeding for Infants with Single Ventricle Congenital Heart Disease: Machine Learning Analysis of the National Pediatric Cardiology Quality Improvement Collaborative Registry.
Kristin M Elgersma et al. J Pediatr 2023 113562
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A Multicenter Cross-Sectional Study in Infants with Congenital Heart Defects Demonstrates High Diagnostic Yield of Genetic Testing but Variable Evaluation Practices
MD Durbin et al, Genet in Med Open, May 2023
Classification of normal and abnormal fetal heart ultrasound images and identification of ventricular septal defects based on deep learning.
Yiru Yang et al. J Perinat Med 2023
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Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
Sikha Singh et al. Int J Neonatal Screen 9(2)
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Preterm birth and maternal heart disease: A machine learning analysis using the Korean national health insurance database.
Jue Seong Lee et al. PloS one 2023 18(3) e0283959
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The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Aafke Engwerda et al. Orphanet journal of rare diseases 2023 18(1) 59
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Co-occurring conditions in children with Down syndrome and autism: a retrospective study.
Noemi A Spinazzi et al. Journal of neurodevelopmental disorders 2023 15(1) 9
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Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD.
Hager Jaouadi et al. Journal of translational medicine 2023 21(1) 160
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Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Emily L Griffin et al. Circulation. Genomic and precision medicine 2023 e003791
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Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.
Martin M C Chui et al. Journal of the American Heart Association 2023 e028226
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Sudden arrhythmic death and cardiomyopathy are important causes of sudden cardiac death in the UK: results from a national coronial autopsy database.
Mary N Sheppard et al. Histopathology 2023
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22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.
Maiara A Floriani et al. Molecular syndromology 2023 14(1) 1-10
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Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.
Sarah U Morton et al. JAMA network open 2023 6(1) e2253191
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Association Between Proton Pump Inhibitor Use During Early Pregnancy and Risk of Congenital Malformations.
Choi Ahhyung et al. JAMA network open 2023 6(1) e2250366
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Associated factors with parental pregnancy decision-making and use of consultation after a prenatal congenital heart disease diagnosis.
Chih Wan-Ling et al. Pediatrics and neonatology 2022
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Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease.
Spendlove Sarah J et al. HGG advances 2022 3(3) 100112
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
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