Diagnostic yield and treatment impact of whole‐genome sequencing in paediatric neurological disorders-Reference-Cited by-同舟云学术

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Diagnostic yield and treatment impact of whole‐genome sequencing in paediatric neurological disorders

Published:2020-11-26 Issue:8 Volume:63 Page:934-938
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

Lee Hsiu‐Fen¹²³,Chi Ching‐Shiang²³⁴⁵^ORCID,Tsai Chi‐Ren¹

Affiliation:

1. Division of Paediatric Neurology Children’s Medical Center Taichung Veterans General Hospital TaichungTaiwan

2. School of Medicine Chung Shan Medical University TaichungTaiwan

3. Division of Nursing Jen‐Teh Junior College of Medicine, Nursing and Management MiaoliTaiwan

4. Division of Paediatric Neurology Department of Paediatrics Tungs’ Taichung Metroharbor Hospital TaichungTaiwan

5. College of Life Sciences National Chung Hsing University Taichung Taiwan

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.14722

Reference24 articles.

1. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

2. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

3. Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy

4. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

5. New diagnostic pathways for mitochondrial disease;Watson E;J Transl Genet Genom,2020

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1. Comprehensive evaluation of the child with global developmental delays or intellectual disability;Clinical and Experimental Pediatrics;2024-09-15

2. Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32;European Journal of Human Genetics;2024-09-10

3. 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

4. SpliceVarDB: A comprehensive database of experimentally validated human splicing variants;The American Journal of Human Genetics;2024-09

5. Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study;Diagnostics;2024-08-02

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