Emma Ashton

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

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Judy Savige, Helen Storey, E. Watson et al. · European Journal of Human Genetics · 2021 · 127 citations · Full text

Medicine, Genetics, Nephrology +17

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1

Sven Enerbäck, Daniel Nilsson, Noel Edwards et al. · Journal of the American Society of Nephrology · 2017 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and molecular aspects of distal renal tubular acidosis in children

Martine Besouw, Marc Bienias, Patrick R. Walsh et al. · Pediatric Nephrology · 2017 · 105 citations · Full text

Medicine, Nephrology, Pediatrics +14

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Emma Ashton, Anne Debost‐Legrand, Valérie Benoît et al. · Kidney International · 2018 · 100 citations · Full text

Medicine, Genetics, Nephrology +16