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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)
Heart, Lung, Blood and Sleep Disorders
Last data update: Apr 23, 2024
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Congenital Heart Defects[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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A machine learning model for predicting congenital heart defects from administrative data.
Haoming Shi et al. Birth Defects Res 2023
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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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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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From Heart Murmur to Echocardiography - Congenital Heart Defects Diagnostics Using Machine-Learning Algorithms.
Begic Edin et al. Psychiatria Danubina 2022 33(Suppl 13) 236-246
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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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Artificial Intelligence Supports Decision Making during Open-Chest Surgery of Rare Congenital Heart Defects.
Lo Muzio Francesco Paolo et al. Journal of clinical medicine 2021 10(22)
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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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Improving preoperative risk-of-death prediction in surgery congenital heart defects using artificial intelligence model: A pilot study.
Chang Junior João et al. PloS one 2020 15(9) e0238199
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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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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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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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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: a retrospective, nationwide, multicenter study in France.
Hureaux M et al. Prenatal diagnosis 2019 Mar
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Lessons from exome sequencing in prenatally diagnosed heart defects: a basis for prenatal testing.
Westphal Dominik S et al. Clinical genetics 2019 Mar
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The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
Engwerda Aafke et al. European journal of human genetics : EJHG 2018 26(10) 1478-1489
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Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina.
Groisman Boris et al. Birth defects research 2019 Feb
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Attitudes of clinicians toward cardiac surgery and trisomy 18.
Kaulfus Meagan E et al. Journal of genetic counseling 2019 Jan
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Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.
Lamont Ryan E et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Nov 40(11) 1417-1423
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 23, 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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