Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

A more efficient method to generate integration-free human iPS cells

(2011) Keisuke Okita et al.   NATURE METHODS

Cell-Surface Marker Signatures for the Isolation of Neural Stem Cells, Glia and Neurons Derived from Human Pluripotent Stem Cells

(2011) Shauna H. Yuan et al.   PLoS One

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

(2010) Hsiao-Tuan Chao et al.   NATURE

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease

(2009) W. J. Zinnanti et al.   BRAIN

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols