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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)
Last data update: Apr 18, 2024
. (Total: 63623 Documents since 2012)
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Copy number variants[original query]>>Evidence Synthesis [Product Type]
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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Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature.
Luca Soliani et al. Mov Disord Clin Pract 2023 10(4) 547-557
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Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.
Gang Peng et al. Molecular genetics & genomic medicine 2023 e2181
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A comprehensive list of human microdeletion and microduplication syndromes.
Wetzel Alyssa S et al. BMC genomic data 2022 23(1) 82
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Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
Srivastava Siddharth et al. JAMA neurology 2022
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Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center.
Su Meng et al. Journal of genetic counseling 2021
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Cell-free fetal DNA screening for detection of microdeletion syndromes: A cost-effectiveness analysis.
Avram Carmen M 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 2019 Jul 1-251
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Added value of Chromosomal Microarray Analysis (CMA) over karyotyping in Early Pregnancy Loss - a Systematic Review and Meta-Analysis.
Pauta Montse et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017 Oct
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Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.
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Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.
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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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