Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

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

(2010) Heng Li et al.   BIOINFORMATICS

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

(2010) Jun Ling Wang et al.   BRAIN

Molecular genetics of attention-deficit/hyperactivity disorder: an overview

(2010) Tobias Banaschewski et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families

(2010) X. Wang et al.   EUROPEAN JOURNAL OF NEUROLOGY

De novo assembly of human genomes with massively parallel short read sequencing

(2009) R. Li et al.   GENOME RESEARCH

Candidate gene studies of ADHD: a meta-analytic review

(2009) Ian R. Gizer et al.   HUMAN GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

SOAP: short oligonucleotide alignment program

(2008) R. Li et al.   BIOINFORMATICS