Recessive mutations in the neuronal isoforms of DST , encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

(2017) Fiore Manganelli et al.   NEUROLOGY

Inhibition of cell adhesion by phosphorylated Ezrin/Radixin/Moesin

(2015) Kouichi Tachibana et al.   Cell Adhesion & Migration

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

(2014) A. Ferrier et al.   HUMAN MOLECULAR GENETICS

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

(2012) T. Kamphans et al.   BIOINFORMATICS

Spectraplakins: Master orchestrators of cytoskeletal dynamics

(2012) Kathleen C. Suozzi et al.   JOURNAL OF CELL BIOLOGY

Mechanisms of disease in hereditary sensory and autonomic neuropathies

(2012) Annelies Rotthier et al.   Nature Reviews Neurology

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

(2010) A. McKenna et al.   GENOME RESEARCH

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

(2010) Richard W. Groves et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration

(2008) L. D. Johansen et al.   JOURNAL OF CELL SCIENCE