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Author Details

Rachel Thompson
Children's Hospital of Eastern Ontario Research Institute
2009
36
19
PMIDPaper TitleJournal TitlePublished Year
37923938Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.J Neurol2024
37721175Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Brain2024
36941504Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.Mol Neurobiol2023
37963467The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.Med2023
37503136The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.medRxiv2023
36692708A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.Mol Neurobiol2023
34749429Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.Eur J Neurol2022
33752678Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.Orphanet J Rare Dis2021
31558842Severe neurodevelopmental disease caused by a homozygous TLK2 variant.Eur J Hum Genet2020
32039858Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.J Neuromuscul Dis2020
32107739Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis.Eur J Epidemiol2020
32787960A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.Orphanet J Rare Dis2020
32470424Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development.Lancet Neurol2020
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
31416457Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.Orphanet J Rare Dis2019
31231902Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.Hum Mutat2019
30931400Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.Emerg Top Life Sci2019
30626441An ontological foundation for ocular phenotypes and rare eye diseases.Orphanet J Rare Dis2019
29059504Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.Proteomics Clin Appl2018
30477555A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.Orphanet J Rare Dis2018
29487416RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.Eur J Hum Genet2018
29704306Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.Am J Med Genet A2018
27899602The Human Phenotype Ontology in 2017.Nucleic Acids Res2017
28471515Critical points for an accurate human genome analysis.Hum Mutat2017
28397002The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.J Neurol2017
28175989Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries.J Neurol2017
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
29214567Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.Adv Exp Med Biol2017
29214177Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.Biomed Res Int2017
26754003KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.J Neurol2016
27911335European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences.J Neuromuscul Dis2016
27033376Limb-girdle muscular dystrophies - international collaborations for translational research.Nat Rev Neurol2016
25536903Adult care for Duchenne muscular dystrophy in the UK.J Neurol2015
24162038Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.J Neurol2014
25029978RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.J Gen Intern Med2014
19846307Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report.Neuromuscul Disord2009
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Collaborators

Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 33
School of Clinical Medicine, University of Cambridge
Co-authored papers 7
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 7
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 6
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 5
INSERM
Co-authored papers 5
The University of Notre Dame Australia
Co-authored papers 5
Center for the Science of Therapeutics, Broad Institute of MIT and Harvard
Co-authored papers 5
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Co-authored papers 5
Co-authored papers 5
Vall d'Hebron University Hospital and VHIR (Euro-NMD
Co-authored papers 5
Hospital Universitari Vall d'Hebron
Co-authored papers 5
INSERM
Co-authored papers 5
Critical Path Institute
Co-authored papers 4
University of Manchester
Co-authored papers 4
International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences
Co-authored papers 4
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 3
The Barcelona Institute of Science and Technology
Co-authored papers 3
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Co-authored papers 3
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Co-authored papers 3
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King Edward Memorial Hospital
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University of California san francisco
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Institute of Epidemiology, Research Unit Molecular Epidemiology
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