Application of whole exome sequencing in undiagnosed inherited polyneuropathies

Inherited neuropathies: Clinical overview and update

(2013) Christopher J. Klein et al.   MUSCLE & NERVE

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

(2012) Christian Beetz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tests and Expenditures in the Initial Evaluation of Peripheral Neuropathy

(2012) Brian Callaghan   ARCHIVES OF INTERNAL MEDICINE

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Whole-genome and whole-exome sequencing in neurological diseases

(2012) Jia-Nee Foo et al.   Nature Reviews Neurology

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

(2012) G. Landoure et al.   NEUROLOGY

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

(2011) Gladys Montenegro et al.   ANNALS OF NEUROLOGY

TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data

(2011) Yan W. Asmann et al.   BIOINFORMATICS

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

(2011) Christopher J Klein et al.   NATURE GENETICS

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

(2010) Christian Guelly et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

(2010) Magdalena Zimoń et al.   BRAIN

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

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

(2009) Han-Xiang Deng et al.   NATURE GENETICS

DCTN1 mutations in Perry syndrome

(2009) Matthew J Farrer et al.   NATURE GENETICS

Diagnostic moléculaire des formes axonales de la maladie de Charcot-Marie-Tooth

(2009) P. Latour et al.   REVUE NEUROLOGIQUE

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

(2008) Christian Beetz et al.   BRAIN

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

Identification of genetic variants using bar-coded multiplexed sequencing

(2008) David W Craig et al.   NATURE METHODS