Katherine D. Mathews

Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies

Daniel E. Michele, Rita Barresi, Motoi Kanagawa et al. · Nature · 2002 · 798 citations

Life Sciences, Biochemistry, Molecular Biology +14

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli et al. · The Lancet · 2017 · 455 citations · Full text

Medicine, Molecular Medicine, Neurology +9

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic approach to the congenital muscular dystrophies

Carsten G. Bönnemann, Ching H. Wang, Susana Quijano‐Roy et al. · Neuromuscular Disorders · 2014 · 343 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern et al. · Human Mutation · 2009 · 314 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16