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Public Health Genomics and Precision Health Knowledge Base (v8.8)
PHGKB
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Public Health Genomics Branch
Genomics and Precision Health Update
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Reproductive and Child Health
Last data update: Dec 02, 2023
. (Total: 62228 Documents since 2012)
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all[original query]>>Evidence Synthesis [Product Type]
The Lived Experience of Pediatric Gene Therapy - A Scoping Review.
Laura Kimberly et al. Hum Gene Ther 2023
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Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Ana B W Greenberg et al. JAMA Netw Open 2023 6(11) e2343384
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Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.
Mario Cesare Nurchis et al. Eur J Health Econ 2023
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Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review.
Sunu Kim et al. Clin Genet 2023
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Effectiveness of preconceptional and prenatal cystic fibrosis carrier screening: a systematic review.
Rita Banzi et al. Epidemiol Prev 2023 47(4-5) 243-256
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A systematic review and meta-analysis: clinical outcomes of recurrent pregnancy failure resulting from preimplantation genetic testing for aneuploidy.
Zhuo Liang et al. Front Endocrinol (Lausanne) 2023 141178294
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Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in Arab Countries: Insights from a Systematic Review.
Abdulaziz S Alangari et al. J Clin Med 2023 12(20)
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Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Justin K Kirkham et al. JAMA Netw Open 2023 6(10) e2337484
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Machine Learning Models for Predicting Sudden Sensorineural Hearing Loss Outcome: A Systematic Review.
Amirhossein Aghakhani et al. Ann Otol Rhinol Laryngol 2023 34894231206902
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Participant characteristics in the prevention of gestational diabetes as evidence for precision medicine: a systematic review and meta-analysis
S Lim et al, Comm Medicine, October 5, 2023
Augmented intelligence facilitates concept mapping across different electronic health records.
Tariq A Dam et al. Int J Med Inform 2023 179105233
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Genetic literacy and attitude towards genetic testing in patients with Parkinson's disease and their caregivers: A review of literature.
Sneha D Kamath et al. Parkinsonism Relat Disord 2023 105853
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Preimplantation genetic testing for sickle cell disease: a cost-effectiveness analysis.
Joshua C Combs et al. F S Rep 2023 4(3) 300-307
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Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
et al. Ont Health Technol Assess Ser 2023 23(4) 1-398
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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Sarah L Stenton et al. medRxiv 2023
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Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis.
Andrea Busnelli et al. Genet Med 2023 100943
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The Minimum Data Set for Rare Diseases: Systematic Review.
Filipe Andrade Bernardi et al. J Med Internet Res 2023 25e44641
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Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis
A Busnelli et al, Genet Med, July 2023
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)
AD Adams et al, Genetics in Medicine, July 20, 2023
Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000-2021: a systematic analysis from the Global Burden of Disease Study 2021.
et al. Lancet Haematol 2023
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The impacts of adrenoleukodystrophy newborn screening on the evaluation of adrenal dysfunction in male children: An integrative literature review.
Leslie Pitts et al. J Pediatr Nurs 2023
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Knowledge, attitudes and experiences of genetic testing for autism spectrum disorders among caregivers, patients, and health providers: A systematic review.
Meng Zhou et al. World J Psychiatry 2023 13(5) 247-261
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Prediction Models for Intrauterine Growth Restriction Using Artificial Intelligence and Machine Learning: A Systematic Review and Meta-Analysis.
Riccardo Rescinito et al. Healthcare (Basel) 2023 11(11)
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The genetic background of female reproductive disorders: a systematic review.
Triada Doulgeraki et al. Curr Opin Obstet Gynecol 2023
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Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
Mario Cesare Nurchis et al. Arch Public Health 2023 81(1) 93
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Distributional Cost-Effectiveness of Equity-Enhancing Gene Therapy in Sickle Cell Disease in the United States.
George Goshua et al. Ann Intern Med 2023
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Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England.
Diana Weidlich et al. Neurol Ther 2023
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Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations.
Claudia Ching Yan Chung et al. Genet Med 2023 100896
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The effectiveness and value of gene therapy for hemophilia: A Summary from the Institute for Clinical and Economic Review's California Technology Assessment Forum.
Jeffrey A Tice et al. J Manag Care Spec Pharm 2023 29(5) 576-581
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The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders.
Hannes Runheim et al. Sci Rep 2023 13(1) 6904
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Page last reviewed:
Oct 1, 2023
Page last updated:
Dec 02, 2023
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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