Rachel Thompson
Rachel Thompson
Lochmüller Lab, CHEO Research Institute
Verified email at cheo.on.ca - Homepage
TitleCited byYear
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2016
3932016
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
R Thompson, L Johnston, D Taruscio, L Monaco, C Béroud, IG Gut, ...
Journal of general internal medicine 29 (3), 780-787, 2014
1132014
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2018
682018
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
CL Bladen, R Thompson, JM Jackson, C Garland, C Wegel, A Ambrosini, ...
Journal of neurology 261 (1), 152-163, 2014
572014
Limb-girdle muscular dystrophies - international collaborations for translational research
R Thompson, V Straub
Nature Reviews Neurology, 2016
542016
Patient registries and trial readiness in myotonic dystrophy–TREAT-NMD/marigold international workshop report
R Thompson, B Schoser, DG Monckton, K Blonsky, H Lochmüller
Neuromuscular Disorders 19 (12), 860-866, 2009
392009
Adult care for Duchenne muscular dystrophy in the UK
S Rodger, KL Woods, CL Bladen, A Stringer, J Vry, K Gramsch, ...
Journal of neurology 262 (3), 629-641, 2015
352015
European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences
J Vry, K Gramsch, S Rodger, R Thompson, BF Steffensen, J Rahbek, ...
Journal of neuromuscular diseases 3 (4), 517-527, 2016
282016
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
H Lochmüller, DM Badowska, R Thompson, NV Knoers, A Aartsma-Rus, ...
European Journal of Human Genetics 26 (6), 778-785, 2018
182018
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research
L Wood, I Cordts, A Atalaia, C Marini-Bettolo, P Maddison, M Phillips, ...
Journal of neurology 264 (5), 979-988, 2017
172017
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
D Natera-de Benito, A Nascimento, A Abicht, C Ortez, C Jou, JS Müller, ...
Journal of neurology 263 (3), 517-523, 2016
172016
Predictors of health-related quality of life in boys with Duchenne muscular dystrophy from six European countries
C Otto, BF Steffensen, AL Højberg, C Barkmann, J Rahbek, ...
Journal of neurology 264 (4), 709-723, 2017
132017
Intersection of proteomics and genomics to “solve the unsolved” in rare disorders such as neurodegenerative and neuromuscular diseases
A Roos, R Thompson, R Horvath, H Lochmüller, A Sickmann
PROTEOMICS–Clinical Applications 12 (2), 1700073, 2018
92018
Improved diagnosis and care for rare diseases through implementation of precision public health framework
G Baynam, F Bowman, K Lister, CE Walker, N Pachter, J Goldblatt, ...
Rare Diseases Epidemiology: Update and Overview, 55-94, 2017
92017
’t Hoen, P.-BA, Patrinos, GP, Dawkins, H. et al.(2014) RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare …
R Thompson, L Johnston, D Taruscio, L Monaco, C Béroud, IG Gut, ...
J. Gen. Intern. Med 29, S780-S787, 0
9
Natural history, trial readiness and gene discovery: advances in patient registries for neuromuscular disease
R Thompson, A Robertson, H Lochmüller
Rare Diseases Epidemiology: Update and Overview, 97-124, 2017
82017
Critical points for an accurate human genome analysis
SJ White, JFJ Laros, E Bakker, A Cambon‐Thomsen, M Eden, S Leonard, ...
Human mutation 38 (8), 912-921, 2017
72017
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
D Owen, A Töpf, V Preethish‐Kumar, PJ Lorenzoni, B Vroling, RH Scola, ...
American Journal of Medical Genetics Part A 176 (7), 1594-1601, 2018
62018
Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide
E López, R Thompson, S Gainotti, CM Wang, Y Rubinstein, D Taruscio, ...
Expert Opinion on Orphan Drugs 4 (7), 729-739, 2016
52016
The impact of integrated omics technologies for patients with rare diseases
L Johnston, R Thompson, C Turner, K Bushby, H Lochmüller, V Straub
Expert Opinion on Orphan Drugs 2 (11), 1211-1219, 2014
52014
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Articles 1–20