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De novo variants in neurodevelopmental disorders with epilepsy.
Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.
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Clinical and genetic spectrum of a large cohort of children with epilepsy in China.
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A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
Epilepsia. 2018 Jun;59(6):1177-1187. doi: 10.1111/epi.14087. Epub 2018 May 11.
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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Mol Genet Genomic Med. 2018 Mar;6(2):186-199. doi: 10.1002/mgg3.355. Epub 2018 Jan 4.
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Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
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The contribution of next generation sequencing to epilepsy genetics.
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Copy number variation plays an important role in clinical epilepsy.
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