| 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, 2017 | 799 | 2017 |
| 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, 2019 | 666 | 2019 |
| 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, 780-787, 2014 | 188 | 2014 |
| Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis E Landfeldt, R Thompson, T Sejersen, HJ McMillan, J Kirschner, ... European journal of epidemiology 35, 643-653, 2020 | 171 | 2020 |
| 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, 152-163, 2014 | 108 | 2014 |
| Limb-girdle muscular dystrophies - international collaborations for translational research R Thompson, V Straub Nature Reviews Neurology, 2016 | 104 | 2016 |
| 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 | 76 | 2016 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 67 | 2021 |
| 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 | 63 | 2018 |
| 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, 629-641, 2015 | 58 | 2015 |
| Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome R Thompson, G Bonne, P Missier, H Lochmüller Emerging topics in life sciences 3 (1), 19-37, 2019 | 51 | 2019 |
| 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 | 43 | 2009 |
| Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development R Thompson, S Spendiff, A Roos, PR Bourque, JW Chardon, J Kirschner, ... The Lancet Neurology 19 (6), 522-532, 2020 | 42 | 2020 |
| 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, 709-723, 2017 | 41 | 2017 |
| 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 | 37 | 2018 |
| Linked registries: connecting rare diseases patient registries through a semantic web layer P Sernadela, L González-Castro, C Carta, E Van Der Horst, P Lopes, ... BioMed research international 2017, 2017 | 37 | 2017 |
| 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, 517-523, 2016 | 36 | 2016 |
| 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 | 29 | 2018 |
| 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, 979-988, 2017 | 29 | 2017 |
| 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 | 29 | 2017 |
Hanns Lochmüller, MD, FAANCHEO Research Institute and The Ottawa HospitalVerified email at toh.ca
