Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

(2013) Johann Böhm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Pablo Cingolani et al.   FLY

In pursuit of the glycogen-[Ca2+] connection

(2011) D. G. Stephenson   JOURNAL OF PHYSIOLOGY-LONDON

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Tubular aggregates in skeletal muscle: Just a special type of protein aggregates?

(2011) Stefano Schiaffino   NEUROMUSCULAR DISORDERS

Auto-inhibitory role of the EF-SAM domain of STIM proteins in store-operated calcium entry

(2011) L. Zheng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

STIM1 as a key regulator for Ca2+ homeostasis in skeletal-muscle development and function

(2011) Santeri Kiviluoto et al.   Skeletal Muscle

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