Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

(2012) Cristina Dias et al.   HUMAN MUTATION

Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects

(2012) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

(2012) Asli Sirmaci et al.   PLoS One

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

(2011) Steven A. Greenberg et al.   ANNALS OF NEUROLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Exome sequencing reveals SPG11 mutations causing juvenile ALS

(2011) Hussein Daoud et al.   NEUROBIOLOGY OF AGING

Exome sequencing: the expert view

(2011) Leslie G Biesecker et al.   GENOME BIOLOGY

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing

(2010) Andrew P. Landstrom et al.   AMERICAN HEART JOURNAL

DNA sequencing errors in molecular diagnostics of filamin myopathy

(2010) Zagaa Odgerel et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

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

(2010) A. McKenna et al.   GENOME RESEARCH

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

(2010) Steven E. Boyden et al.   NEUROGENETICS

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

A New Era in Clinical Genetic Testing for Hypertrophic Cardiomyopathy

(2009) Matthew Wheeler et al.   Journal of Cardiovascular Translational Research