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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Last data update: May 02, 2024
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Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing.
Benjamin M Helm et al. Genes (Basel) 2024 15(4)
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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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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
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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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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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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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
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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
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Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects.
Cao Y et al. Prenatal diagnosis 2022
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It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.
Westphal Dominik Sebastian et al. Journal of cardiovascular development and disease 2022 9(2)
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Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.
Dar Pe'er et al. American journal of obstetrics and gynecology 2022
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Assessing genetic counselors' graduate school education and training in congenital heart defects.
Ahmad Aaliya et al. Journal of genetic counseling 2021
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The current state of prenatal detection of genetic conditions in congenital heart defects.
Findley Tina O et al. Translational pediatrics 2021 10(8) 2157-2170
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Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature.
Helm Benjamin M et al. Genes 2021 12(8)
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High Familial Recurrence of Congenital Heart Defects in Laterality Defects Patients: An Evaluation of 184 Families.
Hu Huifang et al. Pediatric cardiology 2021
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The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal NIPS.
Sagi-Dain Lena et al. American journal of obstetrics and gynecology 2021
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Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.
Miletic Aleksandra et al. European journal of pediatrics 2021
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World Birth Defects Day, March 3, 2021
CDC, March 2021
Genetics in congenital heart disease. Are we ready for it?
De Backer Julie et al. Revista espanola de cardiologia (English ed.) 2020 Jul
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[Noonan syndrome: genetic and clinical update and treatment options].
Carcavilla Atilano et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 May
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The rate of undetectable genetic causes by Cell-free DNA test in congenital heart defects.
Asoglu Mehmet Resit et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2020 Apr 1-7
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The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
Nisselrooij Amber E L van et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
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Genetic Contribution to Congenital Heart Disease (CHD).
Shabana N A et al. Pediatric cardiology 2020 Jan 41(1) 12-23
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Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk.
Crawford Christopher A et al. Cardiology in the young 2020 Jan 1-8
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Genome-wide association studies of structural birth defects: A review and commentary.
Lupo Philip J et al. Birth defects research 2019 Oct
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Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing.
Huang Caiyi et al. Journal of assisted reproduction and genetics 2019 Sep
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CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH
ClinGen Actionability Working Group
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.
Evans Carey-Anne et al. American journal of medical genetics. Part A 2019 Jul
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Genetic counselling and testing in congenital heart defects and hereditary thoracic aortic disease: Complex but essential.
Breckpot Jeroen et al. European journal of preventive cardiology 2019 Jun 2047487319860296
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Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.
De Backer Julie et al. European journal of preventive cardiology 2019 Jun 2047487319854552
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 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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