Virginie Bros‐Facer

Recommendations for Improving the Quality of Rare Disease Registries

Yllka Kodra, Jérôme Weinbach, Manuel Posada de la Paz et al. · International Journal of Environmental Research and Public Health · 2018 · 185 citations · Full text

Rare Disease Registries, Pathology, Disease Classification +16

Optical Control of Muscle Function by Transplantation of Stem Cell–Derived Motor Neurons in Mice

J. Barney Bryson, Carolina Barcellos Machado, Martin Crossley et al. · Science · 2014 · 166 citations · Full text

Muscle Function, Peripheral Nerve Injury, Peripheral Nerve +24

Share and protect our health data: an evidence based approach to rare disease patients’ perspectives on data sharing and data protection - quantitative survey and recommendations

Sandra Courbier, Rebecca Dimond, Virginie Bros‐Facer · Orphanet Journal of Rare Diseases · 2019 · 136 citations · Full text

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy

Francesca Achilli, Virginie Bros‐Facer, Hazel P. Williams et al. · Disease Models & Mechanisms · 2009 · 99 citations · Full text