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References
- Molecular findings among patients referred for clinical whole-exome sequencing.JAMA. 2014; 312: 1870-1879
- Molecular diagnostic experience of whole-exome sequencing in adult patients.Genet Med. 2016; 18: 678-685
- Lynch syndrome.(Available at:)
- Genetic diagnosis of Mendelian disorders via RNA sequencing.Nat Commun. 2017; 8: 1-11
- RNA mis-splicing in disease.Nat Rev Genet. 2016; 17: 19-32
- Splicing mutations in human genetic disorders: examples, detection, and confirmation.J Appl Genet. 2018; 59: 253-268
- Dystrophinopathies.(Available at:)
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med. 2015; 17: 405-424
- Deep intronic mutations and human disease.Hum Genet. 2017; 136: 1093-1111
- Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.Nature. 2003; 423: 293-298
- Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.Nat Genet. 1997; 16: 328-329
- Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.J Mol Diagn. 2013; 15: 380-390
- Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.Nat Med. 2019; 25: 911-919
- ESEfinder: a web resource to identify exonic splicing enhancers.Nucleic Acids Res. 2003; 31: 3568-3571
- Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.J Comput Biol. 2004; 11: 377-394
- Human splicing finder: an online bioinformatics tool to predict splicing signals.Nucleic Acids Res. 2009; 37: e67
- Assessment of diagnostic outcomes of RNA genetic testing for hereditary cancer.JAMA Netw Open. 2019; 2: e1913900
- Predicting splicing from primary sequence with deep learning.Cell. 2019; 176: 535-548.e24
- Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.Genet Med. 2019; https://doi.org/10.1038/s41436-019-0672-1
- Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.Genet Med. 2014; 16: 830-837
- Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer.J Clin Oncol. 2016; 34: 1460-1468
- Perceptions of genetic variant reclassification in patients with inherited cardiac disease.Eur J Hum Genet. 2019; 27: 1134-1142
- Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.Genet Med. 2018; 20: 234-239
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Sci Transl Med. 2017; 9: 1-25
- The Genotype-Tissue Expression (GTEx) project.Nat Genet. 2013; 45: 580-585
- Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease.Am J Hum Genet. 2019; 104: 466-483
- Forward engineering neuronal diversity using direct reprogramming.EMBO J. 2015; 34: 1445-1455
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