Rachel Thompson

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 737 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +17

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Catherine L. Bladen, Rachel Thompson, J. Jackson et al. · Journal of Neurology · 2013 · 109 citations

Public Affairs, Health Sciences, Health Services Research +4

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 · 103 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +15

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

Julia Vry, K. Gramsch, Sunil Rodger et al. · Journal of Neuromuscular Diseases · 2016 · 98 citations · Full text

Medicine, Rehabilitation Medicine, Good Clinical Practice +16

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Rachel Thompson, Gisèle Bonne, Paolo Missier et al. · Emerging Topics in Life Sciences · 2019 · 86 citations · Full text

Life Sciences, Genetics, Neurology +15