Recessive LAMC3 mutations cause malformations of occipital cortical development

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Laminins

(2009) Madeleine Durbeej   CELL AND TISSUE RESEARCH

Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis

(2009) Matthew B. Johnson et al.   NEURON

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome

(2008) Althea A. Stillman et al.   JOURNAL OF COMPARATIVE NEUROLOGY

A locus for bilateral occipital polymicrogyria maps to chromosome 6q16–q22

(2008) Bouchra Ouled Amar Ben Cheikh et al.   NEUROGENETICS