Pitfalls of clinical exome and gene panel testing: alternative transcripts
- 1 May 2019
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 21 (5), 1240-1245
- https://doi.org/10.1038/s41436-018-0319-7
Abstract
No abstract availableThis publication has 19 references indexed in Scilit:
- Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizuresCold Spring Harbor Molecular Case Studies, 2018
- De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathyGenetics in Medicine, 2018
- Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism—MAGEL2 as an exampleGenetics in Medicine, 2017
- Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathyCold Spring Harbor Molecular Case Studies, 2017
- Imprinting: the Achilles heel of trio-based exome sequencingGenetics in Medicine, 2016
- Analysis of protein-coding genetic variation in 60,706 humansNature, 2016
- Developmental regulation of human cortex transcription and its clinical relevance at single base resolutionNature Neuroscience, 2014
- Diagnosis of an imprinted‐gene syndrome by a novel bioinformatics analysis of whole‐genome sequences from a family trioMolecular Genetics & Genomic Medicine, 2014
- ENCODE Data in the UCSC Genome Browser: year 5 updateNucleic Acids Research, 2012
- Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencingNature Genetics, 2008