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CDC A-Z Index
Public Health Genomics and Precision Health Knowledge Base (v8.9)
PHGKB
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Public Health Genomics Branch
Genomics and Precision Health Update
Genomics (A-Z)
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Last data update: Dec 08, 2023
. (Total: 62301 Documents since 2012)
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all[original query]>> Birth Defects/Child Health[Category]
Epigenome-wide association studies of prenatal maternal mental health and infant epigenetic profiles: a systematic review.
Emily Drzymalla et al. Transl Psychiatry 2023 13(1) 377
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Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders.
Chunhua Weng et al. Res Sq 2023
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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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Whole-Exome Sequencing Among School-Aged Children With High Myopia.
Xiangyi Yu et al. JAMA Netw Open 2023 6(12) e2345821
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Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications.
Eugenio Mercuri et al. Front Pediatr 2023 111276144
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The implementation and utility of clinical exome sequencing in a South African infant cohort.
L Campbell et al. Front Genet 2023 141277948
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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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A Prospective Study of an Early Prediction Model of Attention Deficit Hyperactivity Disorder Based on Artificial Intelligence.
Gang Wang et al. J Atten Disord 2023 10870547231211360
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Incremental value of machine learning for risk prediction in tetralogy of Fallot.
Ayako Ishikita et al. Heart 2023
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Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience.
Mangalore S Shravya et al. Clin Dysmorphol 2023
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Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.
Roberta Onesimo et al. Int J Lang Commun Disord 2023
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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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Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Elena Bacchelli et al. Res Sq 2023
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Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.
Xiaorui Xie et al. BMC Med Genomics 2023 16(1) 298
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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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Down Syndrome in a New Era for Alzheimer Disease.
Michael S Rafii et al. JAMA 2023
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Public Health Genetics, Gene Therapy, and Duchenne Muscular Dystrophy
CDC Webinar, December 18, 2023
Gene therapy-based strategies for spinal muscular atrophy-an Asia-Pacific perspective.
Michelle A Farrar et al. Mol Cell Pediatr 2023 10(1) 17
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Research participants' perspectives regarding the feedback of secondary findings-A cohort from the DDD-Africa study, South Africa.
Barry Shingwenyana et al. J Genet Couns 2023
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Screening results and mutation frequency analysis of G6PD deficiency in 1,291,274 newborns in Huizhou, China: a twenty-year experience.
Zhiqiang Zhang et al. Ann Hematol 2023
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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak et al. Am J Med Genet A 2023
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"We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia.
Jacintha Luermans et al. Am J Med Genet A 2023
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A decision-making framework for genomic testing in paediatric nephrology.
Inez Beadell et al. J Paediatr Child Health 2023
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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for rare disease patients in a publicly-funded healthcare system: a prospective cohort study.
Taila Hartley et al. Genet Med 2023 101012
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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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The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders.
Shenouda Abdallah et al. Cureus 2023 15(10) e46860
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Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders.
Nicolas J Abreu et al. Pediatr Neurol 2023 15017-23
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Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders.
Karthika Ajit Valaparambil et al. Indian J Pediatr 2023
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Collaborative efforts to improve genetic testing in the neonatal intensive care unit.
Bryce A Schuler et al. J Perinatol 2023
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Page last reviewed:
Oct 1, 2023
Page last updated:
Dec 08, 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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