Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

(2015) Ruolan Guo et al.   JOURNAL OF HUMAN GENETICS

Duchenne muscular dystrophy

(2015) Eppie M Yiu et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Disease-proportional proteasomal degradation of missense dystrophins

(2015) Dana M. Talsness et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

(2015) Jonas Juan-Mateu et al.   PLoS One

Preimplantational Genetic Diagnosis and Mutation Detection in a Family with Duplication Mutation of DMD Gene

(2014) Yinghui Ye et al.   GYNECOLOGIC AND OBSTETRIC INVESTIGATION

Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches

(2013) Rebecca J. Fairclough et al.   NATURE REVIEWS GENETICS

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

(2012) Aliya Ishmukhametova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recurrent GNAS Mutations Define an Unexpected Pathway for Pancreatic Cyst Development

(2011) J. Wu et al.   Science Translational Medicine

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

(2010) A. McKenna et al.   GENOME RESEARCH

MagicViewer: integrated solution for next-generation sequencing data visualization and genetic variation detection and annotation

(2010) H. Hou et al.   NUCLEIC ACIDS RESEARCH

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS