The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

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

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The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov, Brian J. O’Roak, Stephan Sanders et al. · Nature · 2014 · 2.8K citations · Full text

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals

G Yeo, Christopher B. Burge · Journal of Computational Biology · 2004 · 2.1K citations · Full text

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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