Concepedia

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy Schneider, Georgie Hollingsworth, Dylan H. Holder,

The American Journal of Human Genetics · 2018 · 122 citations · 34 references

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34

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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ClinVar: public archive of relationships among sequence variation and human phenotype

Melissa Landrum, Jennifer M. Lee, Wonhee Jang et al. · Nucleic Acids Research · 2013 · 3.7K citations · Full text

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Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

Eugene Davydov, David L. Goode, Marina Sirota et al. · PLoS Computational Biology · 2010 · 1.9K citations · Full text

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De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.6K citations · Full text

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Distribution and intensity of constraint in mammalian genomic sequence

Gregory M. Cooper, Eric A. Stone, George Asimenos et al. · Genome Research · 2005 · 1.4K citations · Full text

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