Advancing epilepsy genetics in the genomic era von Myers, Candace T, Mefford, Heather C

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Recent advances in epilepsy genomics and genetic testing [version 1; peer review: 2 approved] von Hebbar, Malavika, Mefford, Heather C

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The Genetics of Microdeletion and Microduplication Syndromes: An Update von Watson, Corey T, Tomas, Marques-Bonet, Sharp, Andrew J, Mefford, Heather C

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Poison exons in neurodevelopment and disease von Carvill, Gemma L, Mefford, Heather C

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Expanding role of GABA A receptors in generalised epilepsies von Mefford, Heather C

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Epilepsy and the new cytogenetics von Mulley, John C., Mefford, Heather C.

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Diagnostic Considerations in the Epilepsies—Testing Strategies, Test Type Advantages, and Limitations von Chen, Wei-Liang, Mefford, Heather C.

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Editorial overview: Congenital cardiovascular disease von Hanchard, Neil A., Mefford, Heather C

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Duplication hotspots, rare genomic disorders, and common disease von Mefford, Heather C, Eichler, Evan E

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Mosaicism in clinical genetics von Mefford, Heather C

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Diagnostic Exome Sequencing — Are We There Yet? von Mefford, Heather C

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Phenotype to Genotype and Back Again von Mefford, Heather C.

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A de novo in‐frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient von Bozarth, Xiuhua, Foss, Kimberly, Mefford, Heather C.

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The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy von Mefford, Heather C.

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Antiepileptic Drugs as Teratogens: The Mechanism Remains a Mystery von Mefford, Heather C.

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Microdeletion syndromes von Carvill, Gemma L, Mefford, Heather C

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Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families von Jeffrey, Jennifer S., Leathem, Janet, King, Chontelle, Mefford, Heather C., Ross, Kirsty, Sadleir, Lynette G.

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Genotype to phenotype—discovery and characterization of novel genomic disorders in a “genotype-first” era von Mefford, Heather C

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Thinking about cognition and epilepsy von Mefford, Heather C

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Clinical Genetic Testing in Epilepsy: Clinical Genetic Testing in Epilepsy von Mefford, Heather C.

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