Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

(2012) Rudolf A. Kley et al.   BRAIN

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies

(2012) L. ten Dam et al.   NEUROLOGY

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

(2011) Matthew B. Harms et al.   ANNALS OF NEUROLOGY

Limb girdle muscular dystrophies

(2011) Vincenzo Nigro et al.   CURRENT OPINION IN NEUROLOGY

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

The Cargo-Binding Domain of Transportin 3 Is Required for Lentivirus Nuclear Import

(2011) E. C. Logue et al.   JOURNAL OF VIROLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

(2011) K. D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Neuromuscular imaging in inherited muscle diseases

(2010) Mike P. Wattjes et al.   EUROPEAN RADIOLOGY

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

(2010) D. L. Goode et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis

(2010) Gideon M Hirschfield et al.   NATURE GENETICS

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

(2009) M. Fanin et al.   NEUROLOGY