Article

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability A systematic review and meta-analysis

2020-05-08

Abstract excerpt

Importance: Clinical genetic sequencing is frequently utilized to diagnose individuals with neurodevelopmental disorders (NDDs). Several reviews have been published regarding clinical genetic testing in various NDD subtypes. However, there is no systematic review and meta-analysis – in accordance with the PRISMA guidelines – which compares the genetic testing yield across neurodevelopmental disorder subtypes...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 779ca48f-2199-5d7a-800d-35227a264ca5
DOI: 10.1101/2020.05.04.20089896

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability A systematic review and meta-analysisDOI 10.1101/2020.05.04.20089896Read

Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental DelaySemantic proximity Read

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing GuidelinesSemantic proximity Read

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset EpilepsySemantic proximity Read

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individualsSemantic proximity Read

Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.Semantic proximity Read

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsySemantic proximity Read

Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experienceSemantic proximity Read

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta-Analysis.Semantic proximity Read

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital HydrocephalusSemantic proximity Read

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.Semantic proximity Read

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsySemantic proximity Read

Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.Semantic proximity Read