Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis-Reference-Cited by-同舟云学术

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

Published:2020-11-17 Issue:1 Volume:62 Page:143-151
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Stefanski Arthur¹²^ORCID,Calle‐López Yamile²³^ORCID,Leu Costin¹⁴⁵^ORCID,Pérez‐Palma Eduardo¹²,Pestana‐Knight Elia²,Lal Dennis¹²⁴⁶

Affiliation:

1. Genomic Medicine InstituteLerner Research InstituteCleveland Clinic Cleveland OH USA

2. Epilepsy Center Neurological InstituteCleveland Clinic Cleveland OH USA

3. Epilepsy ProgramNeuroclinicaUniversity of Antioquia Medellín CO USA

4. Stanley Center for Psychiatric ResearchBroad Institute of Harvard and M.I.T. Cambridge MA USA

5. Department of Clinical and Experimental Epilepsy Institute of Neurology University College London London UK

6. Cologne Center for Genomics (CCG) University of Cologne Cologne Germany

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.16755

Reference35 articles.

1. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

2. De novo variants in neurodevelopmental disorders with epilepsy

3. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

4. Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

5. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

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1. Categorizing Monogenic Epilepsies by Genetic Mechanisms May Predict Efficacy of the Ketogenic Diet;Pediatric Neurology;2024-11

2. High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study;International Journal of Molecular Sciences;2024-09-06

3. Clinical use of whole exome sequencing in children with developmental delay/intellectual disability;Pediatrics & Neonatology;2024-09

4. A retrospective review of reclassification of Variants of Uncertain Significance in a pediatric epilepsy cohort undergoing genetic panel testing.;Pediatric Neurology;2024-09

5. Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis;Molecular Syndromology;2024-08-29

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