Stephen Abbs

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

Sebahattin Çirak, Virginia Arechavala‐Gomeza, Michela Guglieri et al. · The Lancet · 2011 · 862 citations · Full text

Medicine, Neurology, Pharmacotherapy +13

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

Maria Kinali, Virginia Arechavala‐Gomeza, Lucy Feng et al. · The Lancet Neurology · 2009 · 639 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 440 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 280 citations

Life Sciences, Genetics, Molecular Genetics +14