Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Tom Walsh, Ming K. Lee, Silvia Casadei et al. · Proceedings of the National Academy of Sciences · 2010 · 491 citations

Life Sciences, Genetics, Oncology +17

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq et al. · Human Mutation · 2009 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

Shu C. Yau, Martin Bobrow, Christopher G. Mathew et al. · Journal of Medical Genetics · 1996 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

Nathalie Deburgrave, Fatma Daoud, S. Llense et al. · Human Mutation · 2006 · 122 citations

Medicine, Genetics, Molecular Genetics +15

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

Stephen Abbs, Sylvie Tuffery‐Giraud, Egbert Bakker et al. · Neuromuscular Disorders · 2010 · 112 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +16