Takip et
Rachel Thompson
Rachel Thompson
Lochmüller Lab, CHEO Research Institute
cheo.on.ca üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
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
7422019
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
6512017
The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...
3722017
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
2322020
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
1902014
Assessing competencies of counselors‐in‐training: Complexities in evaluating personal and professional development
LG Hensley, SL Smith, RW Thompson
Counselor Education and Supervision 42 (3), 219-230, 2003
1582003
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
1192014
Limb-girdle muscular dystrophies - international collaborations for translational research
R Thompson, V Straub
Nature Reviews Neurology, 2016
1162016
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
912021
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
812016
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
722018
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
L Matalonga, C Hernández-Ferrer, D Piscia, R Schüle, M Synofzik, A Töpf, ...
European Journal of Human Genetics 29 (9), 1337-1347, 2021
642021
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
612019
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
612015
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
592020
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
S Laurie, D Piscia, L Matalonga, A Corvó, M Fernández‐Callejo, ...
Human mutation 43 (6), 717-733, 2022
492022
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 (1), 8327980, 2017
492017
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
442009
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
432017
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
412018
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