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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)
Reproductive and Child Health
Last data update: Apr 18, 2024
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all[original query]>>Evidence Synthesis [Product Type]
Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review.
Sameerah Wahab et al. Cureus 2024 16(3) e56089
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A scoping review exploring cure definitions and language for inherited hemoglobinopathies.
Marilyn S Baffoe-Bonnie et al. Genet Med Open 2024 2
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Artificial intelligence in imaging in the first trimester of pregnancy: a systematic review.
Emma Umans et al. Fetal Diagn Ther 2024
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Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.
Enrica Marchionni et al. Eur J Hum Genet 2024
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Diagnostic Accuracy of Creatine Kinase Isoenzyme-MM Test in Newborn Screening for Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
Liang Tang et al. Pediatr Neurol 2024 15384-91
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The Psychological Impact on Parents of Children who Receive an Inconclusive Diagnosis for Cystic Fibrosis following Newborn Screening: A Systematic Mini-Review.
Ioanna Loukou et al. Children (Basel) 2024 11(1)
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Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.
Zohreh Talebizadeh et al. Int J Neonatal Screen 2024 10(1)
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The psychological impact of genetic testing in childhood cancer: A systematic review.
Sophie Van Hoyweghen et al. Psychooncology 2024 33(1) e6279
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Gene Therapy Versus Common Care for Eligible Individuals With Sickle Cell Disease in the United States : A Cost-Effectiveness Analysis.
Anirban Basu et al. Ann Intern Med 2024
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Image analysis-based machine learning for the diagnosis of retinopathy of prematurity: A meta-analysis and systematic review.
Yihang Chu et al. Ophthalmol Retina 2024
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Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium.
Tamara Dangouloff et al. Neuromuscul Disord 2023 3461-67
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A cost-effectiveness analysis of pre-pregnancy genetic screening for deafness: an empirical study in China.
Yipeng Lv et al. Front Public Health 2023 111081339
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Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Emanuele Monda et al. Circ Genom Precis Med 2023 e004252
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The past, current, and future of neonatal intensive care units with artificial intelligence: a systematic review.
Elif Keles et al. NPJ Digit Med 2023 6(1) 220
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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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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 18, 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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