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Precision Health Database


Precision Health Database|Search|PHGKB

Last data update: Oct 03, 2023. (Total: 61706 Documents since 2012)
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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
Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.
Hang Zhou et al. Mol Cytogenet 2023 16(1) 22
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Thomas Hays et al. Circ Genom Precis Med 2023 e004050
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
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)
Genetic Testing in Patients With Congenital Heart Disease: You Do No Harm When Using the Right Tools!
Julie De Backer et al. Circulation. Genomic and precision medicine 2023 e004104
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
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
Impact of Genetic Disorders in the Surgical Management of Congenital Heart Disease.
Elizabeth H Stephens et al. World journal for pediatric & congenital heart surgery 2023 21501351221139837
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
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
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
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
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
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
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
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
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
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
Ranza Emmanuelle et al. American journal of medical genetics. Part A 2022
A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America.
Rickman Allison F et al. Journal of genetic counseling 2022
Copy-number variation in congenital heart disease.
Ehrlich Laurent et al. Current opinion in genetics & development 2022 77101986
Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation.
Emms Alexandra et al. Genes 2022 13(9)
Periconception Red Blood Cell Folate and Offspring Congenital Heart Disease : Nested Case-Control and Mendelian Randomization Studies.
Chen Hongyan et al. Annals of internal medicine 2022
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
Okashah Sarah et al. Genes 2022 13(8)
CHDbase: A comprehensive knowledgebase for congenital heart disease-related genes and clinical manifestations.
Zhou Wei-Zhen et al. Genomics, proteomics & bioinformatics 2022
Integrated multiomic characterization of congenital heart disease.
Hill Matthew C et al. Nature 2022
Experiences of athletes with arrhythmogenic cardiac conditions in returning to play.
Shapero Kayle et al. Heart rhythm O2 2022 3(2) 133-140
Congenital Heart Disease Gene: a Curated Database for Congenital Heart Disease Genes
A Yang et al, CIrc Gen Prec Medicine, May 6, 20222
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects.
Cao Y et al. Prenatal diagnosis 2022
Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations.
Shi Jia-Wei et al. Prenatal diagnosis 2022
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