The Lancet Neurology · 2017 · 234 citations · 18 references
Life SciencesGeneticsMolecular GeneticsEpilepsyHuman GeneticsMedical GeneticsEpilepsy GeneticsGenetic EpilepsiesRare Disease GeneticsRare Disease GenomicsRare Variant AnalysisVariant InterpretationCase-control Study DesignHereditary EpilepsiesInheritance Patterns In EpilepsyPathomechanisms Of Genetic EpilepsyRare Genetic VariantsSingle-gene EpilepsiesUltra-rare Variant Analysis
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FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Jennifer C. Darnell, Sarah J. Van Driesche, Chaolin Zhang et al. · Cell · 2011 · 2.1K citations · Full text
De novo mutations in epileptic encephalopathies
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Elizabeth T. Cirulli, Brittany N. Lasseigne, Slavé Petrovski et al. · Science · 2015 · 981 citations · Full text
Common Genetic Variation and Human Traits
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