Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Disulfide bonds in ER protein folding and homeostasis

(2010) Matthias J Feige et al.   CURRENT OPINION IN CELL BIOLOGY

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

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

(2009) Prateek Kumar et al.   Nature Protocols

Autosomal recessive Bethlem myopathy

(2009) F. Gualandi et al.   NEUROLOGY

Autosomal recessive inheritance of classic Bethlem myopathy

(2009) A. Reghan Foley et al.   NEUROMUSCULAR DISORDERS

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

(2008) Rishika A. Pace et al.   ANNALS OF NEUROLOGY

Mechanical Strain Increases Expression of Type XII Collagen in Murine Osteoblastic MC3T3-E1 Cells

(2008) Katsuhiko Arai et al.   CELL STRUCTURE AND FUNCTION

A refined diagnostic algorithm for Bethlem myopathy

(2008) D. Hicks et al.   NEUROLOGY