Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Interaction of the HIV-1 Intasome with Transportin 3 Protein (TNPO3 or TRN-SR2)

(2012) Ross Larue et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

(2012) Jaakko Sarparanta et al.   NATURE GENETICS

The GEM mapper: fast, accurate and versatile alignment by filtration

(2012) Santiago Marco-Sola et al.   NATURE METHODS

Fast Computation and Applications of Genome Mappability

(2012) Thomas Derrien et al.   PLoS One

A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1

(2012) Yan Lu et al.   PLoS One

Clinical and genetic heterogeneity in laminopathies

(2011) Anne T. Bertrand et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Limb girdle muscular dystrophies

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

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel

(2011) Zhen Zhi Tang et al.   HUMAN MOLECULAR GENETICS

Mutations affecting interaction of integrase with TNPO3 do not prevent HIV-1 cDNA nuclear import

(2011) Alexandra Cribier et al.   Retrovirology

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

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

Hereditary Inclusion Body Myopathy: A decade of progress

(2009) Marjan Huizing et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Inclusion Body Myositis: A Degenerative Muscle Disease Associated with Intra-Muscle Fiber Multi-Protein Aggregates, Proteasome Inhibition, Endoplasmic Reticulum Stress and Decreased Lysosomal Degradation

(2009) Valerie Askanas et al.   BRAIN PATHOLOGY

Specific combinations of SR proteins associate with single pre-messenger RNAs in vivo and contribute different functions

(2009) Petra Björk et al.   JOURNAL OF CELL BIOLOGY

Laminopathies and the long strange trip from basic cell biology to therapy

(2009) Howard J. Worman et al.   JOURNAL OF CLINICAL INVESTIGATION

BFAST: An Alignment Tool for Large Scale Genome Resequencing

(2009) Nils Homer et al.   PLoS One

Global Analysis of Host-Pathogen Interactions that Regulate Early-Stage HIV-1 Replication

(2008) Renate König et al.   CELL

Transportin-SR2 Imports HIV into the Nucleus

(2008) Frauke Christ et al.   CURRENT BIOLOGY

Identification of Host Proteins Required for HIV Infection Through a Functional Genomic Screen

(2008) Abraham L. Brass et al.   SCIENCE