A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy

(2013) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

(2012) Y. Jane Tavyev Asher et al.   European Journal of Medical Genetics

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

(2012) Degui Zhi et al.   PLoS One

ENCODE Project Writes Eulogy for Junk DNA

(2012) E. Pennisi   SCIENCE

EX-HOM (EXome HOMozygosity): A Proof of Principle

(2011) Tommaso Pippucci et al.   HUMAN HEREDITY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Neurological channelopathies: new insights into disease mechanisms and ion channel function

(2010) Dimitri M. Kullmann et al.   JOURNAL OF PHYSIOLOGY-LONDON

Towards a knowledge-based Human Protein Atlas

(2010) Mathias Uhlen et al.   NATURE BIOTECHNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Early Forebrain Wiring: Genetic Dissection Using Conditional Celsr3 Mutant Mice

(2008) L. Zhou et al.   SCIENCE