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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Last data update: May 03, 2024
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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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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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Integrated multiomic characterization of congenital heart disease.
Hill Matthew C et al. Nature 2022
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Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Debiec Radoslaw Marek et al. Heart (British Cardiac Society) 2022
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22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation.
Xue Jiangyang et al. Translational pediatrics 2022 10(12) 3273-3281
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Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.
Reuter Miriam S et al. Circulation. Genomic and precision medicine 2021
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The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Reuter Miriam S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb
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Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis.
Peng Ruan et al. Cardiovascular ultrasound 2019 May 17(1) 8
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Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.
Fotiou Elisavet, et al. Circulation. Genomic and precision medicine 2019 10 0. (10) 442-451
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CLINGEN Actionability Report for Glycogen Storage Disease V - PYGM
ClinGen Actionability Working Group
Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.
Thomford Nicholas Ekow et al. Omics : a journal of integrative biology 2018 May 22(5) 301-321
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Effect of Concomitant Birth Defects and Genetic Anomalies on Infant Mortality in Tetralogy of Fallot.
Jernigan Eric G et al. Birth defects research 2017 Aug 109(14) 1154-1165
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Clinical application of targeted next-generation sequencing on fetuses with congenital heart defects.
Hu Ping et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Mar
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Genetic Origins of Tetralogy of Fallot.
Morgenthau Ari et al. Cardiology in review 26(2) 86-92
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Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.
LaHaye Stephanie et al. Circulation. Cardiovascular genetics 2016 Aug 9(4) 320-9
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Outcome after prenatal and postnatal diagnosis of complex congenital heart defects and the influence of genetic anomalies.
De Groote Katya et al. Prenatal diagnosis 2017 Jul
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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