A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
- 1 January 2019
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 21 (1), 161-172
- https://doi.org/10.1038/s41436-018-0044-2
Abstract
No abstract availableThis publication has 31 references indexed in Scilit:
- Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisGenetics in Medicine, 2018
- Lessons learned from additional research analyses of unsolved clinical exome casesGenome Medicine, 2017
- Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providersGenetics in Medicine, 2017
- Successful Application of Whole Genome Sequencing in a Medical Genetics ClinicJournal of Pediatric Genetics, 2016
- Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsyEuropean Journal of Paediatric Neurology, 2016
- The Matchmaker Exchange: A Platform for Rare Disease Gene DiscoveryHuman Mutation, 2015
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian DisordersJAMA, 2014
- Molecular Findings Among Patients Referred for Clinical Whole-Exome SequencingJAMA, 2014
- Unlocking Mendelian disease using exome sequencingGenome Biology, 2011
- Distribution and intensity of constraint in mammalian genomic sequenceGenome Research, 2005