Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy

(2015) David G. Ousterout et al.   Nature Communications

Precise Correction of the Dystrophin Gene in Duchenne Muscular Dystrophy Patient Induced Pluripotent Stem Cells by TALEN and CRISPR-Cas9

(2015) Hongmei Lisa Li et al.   Stem Cell Reports

Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients

(2014) Chen Chen et al.   PLoS One

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

(2014) Berivan Baskin et al.   Molecular Genetics & Genomic Medicine

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy

(2013) Gabriella Esposito et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

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

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

(2011) A. Ankala et al.   GENOME RESEARCH

Induction and repair of DNA double strand breaks: The increasing spectrum of non-homologous end joining pathways

(2011) Emil Mladenov et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines

(2010) Jun Mitsui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms

(2010) Jeffrey M. Kidd et al.   CELL

Aminotransferases and muscular diseases: A disregarded lesson. Case reports and review of the literature

(2010) Claudio Veropalumbo et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Regional genomic instability predisposes to complex dystrophin gene rearrangements

(2009) Junko Oshima et al.   HUMAN GENETICS

Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45–55 of the Duchenne muscular dystrophy (DMD) gene

(2009) Daigo Miyazaki et al.   JOURNAL OF HUMAN GENETICS