Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Genetic bases of hypertriglyceridemic phenotypes

(2011) Christopher T. Johansen et al.   CURRENT OPINION IN LIPIDOLOGY

Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11

(2011) Sanjeev Rajakulendran et al.   Journal of Clinical Neurology

Exome sequencing: a transformative technology

(2011) Andrew B Singleton   LANCET NEUROLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Autosomal recessive spastic ataxia of Charlevoix–Saguenay: An overview

(2011) Yosr Bouhlal et al.   PARKINSONISM & RELATED DISORDERS

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

(2010) Christopher T Johansen et al.   NATURE GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Cerebellar ataxias

(2009) Mario Manto et al.   CURRENT OPINION IN NEUROLOGY

A Novel SACS Gene Mutation in a Tunisian Family

(2009) Yosr Bouhlal et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia

(2008) Amir Boukhris et al.   ARCHIVES OF NEUROLOGY

Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion

(2008) Paola S. Denora et al.   HUMAN MUTATION

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

(2008) Sascha Vermeer et al.   NEUROGENETICS