Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Conditional Deletion of NRSF in Forebrain Neurons Accelerates Epileptogenesis in the Kindling Model

(2011) Xiao-Ling Hu et al.   CEREBRAL CORTEX

Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families

(2011) Shinji Ono et al.   MOVEMENT DISORDERS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

The diploid genome sequence of an Asian individual

(2008) Jun Wang et al.   NATURE