Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Differential diagnosis of dystonia

(2010) A. E. Elia et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1

(2010) Yuichi Mushimoto et al.   MOLECULAR GENETICS AND METABOLISM

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

The monogenic primary dystonias

(2009) U. Muller   BRAIN

Brain injury in glutaric aciduria type I: The value of functional techniques in magnetic resonance imaging

(2009) Belén Pérez-Dueñas et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

(2009) Tania Fuchs et al.   NATURE GENETICS

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

(2008) Sarah Camargos et al.   LANCET NEUROLOGY

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms

(2008) Gabriella A. Horvath et al.   MOLECULAR GENETICS AND METABOLISM