Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
- 23 March 2020
- journal article
- review article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 22 (6), 986-1004
- https://doi.org/10.1038/s41436-020-0771-z
Abstract
No abstract availableThis publication has 54 references indexed in Scilit:
- Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disordersScience Translational Medicine, 2014
- The usefulness of whole-exome sequencing in routine clinical practiceGenetics in Medicine, 2014
- Clinical whole exome sequencing in child neurology practiceAnnals of Neurology, 2014
- Diagnosis and Management of Epileptic Encephalopathies in ChildrenEpilepsy Research and Treatment, 2013
- Consolidated Health Economic Evaluation Reporting Standards (CHEERS) statementBMJ, 2013
- Exome Sequencing Can Improve Diagnosis and Alter Patient ManagementScience Translational Medicine, 2012
- Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalitiesGenetics in Medicine, 2010
- Effect of Kasai Procedure on Hepatic Outcome in Alagille SyndromeJournal of Pediatric Gastroenterology and Nutrition, 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
- Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the NetherlandsEuropean Journal of Medical Genetics, 2009