Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
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Open Access
- 1 November 2019
- journal article
- review article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 21 (11), 2413-2421
- https://doi.org/10.1038/s41436-019-0554-6
Abstract
No abstract availableKeywords
Funding Information
- Wade Family Foundation (N/A)
This publication has 65 references indexed in Scilit:
- The impact of chromosomal microarray on clinical management: a retrospective analysisGenetics in Medicine, 2014
- The genetic basis of DOORS syndrome: an exome-sequencing studyThe Lancet Neurology, 2013
- Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic featuresEuropean Journal of Paediatric Neurology, 2013
- Chromosomal microarray impacts clinical managementClinical Genetics, 2013
- Clinical Utility of Chromosomal Microarray AnalysisPEDIATRICS, 2012
- Exome Sequencing Can Improve Diagnosis and Alter Patient ManagementScience Translational Medicine, 2012
- Chromosomal microarray testing influences medical managementGenetics in Medicine, 2011
- Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalitiesGenetics in Medicine, 2010
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican Journal of Human Genetics, 2010
- Consensus methods: characteristics and guidelines for use.American Journal of Public Health, 1984