Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Dynamic Regulation of Synaptic Maturation State by Voltage-Gated A-Type K+ Channels in CA1 Hippocampal Pyramidal Neurons

(2012) E. Kim et al.   JOURNAL OF NEUROSCIENCE

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

(2012) C S Ku et al.   MOLECULAR PSYCHIATRY

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Observation of a NewχbState in Radiative Transitions toΥ(1S)andΥ(2S)at ATLAS

(2012) G. Aad et al.   PHYSICAL REVIEW LETTERS

Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV

(2011) Nobuhiko Okamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epilepsy in autism: features and correlates

(2011) Patrick F. Bolton et al.   BRITISH JOURNAL OF PSYCHIATRY

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

(2011) Jillian P. Casey et al.   HUMAN GENETICS

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

(2011) Marine R.-C. Kraus et al.   HUMAN MUTATION

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Bidirectional Regulation of Dendritic Voltage-Gated Potassium Channels by the Fragile X Mental Retardation Protein

(2011) Hye Young Lee et al.   NEURON

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

Frequent association of autism spectrum disorder in patients with childhood onset epilepsy

(2010) Muneaki Matsuo et al.   BRAIN & DEVELOPMENT

A novel N-terminal motif of dipeptidyl peptidase-like proteins inactivates KV4.2 channels by a pore-blocking mechanism

(2010) Henry H. Jerng et al.   Channels

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

(2010) A. McKenna et al.   GENOME RESEARCH

Mechanisms of closed-state inactivation in voltage-gated ion channels

(2010) Robert Bähring et al.   JOURNAL OF PHYSIOLOGY-LONDON

Generating linkage mapping files from Affymetrix SNP chip data

(2009) M. Bahlo et al.   BIOINFORMATICS

Dynamic Coupling of Voltage Sensor and Gate Involved in Closed-State Inactivation of Kv4.2 Channels

(2009) Jan Barghaan et al.   JOURNAL OF GENERAL PHYSIOLOGY

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

K Homology Domains of the Mouse Polycystic Kidney Disease-Related Protein, Bicaudal-C (Bicc1), Mediate RNA Binding in vitro

(2008) Denise J. Bouvrette et al.   NEPHRON EXPERIMENTAL NEPHROLOGY

The Neuronal Kv4 Channel Complex

(2008) Manuel Covarrubias et al.   NEUROCHEMICAL RESEARCH