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List of works by Rachel Thompson

222nd ENMC International Workshop:

scientific article published on 12 February 2018

Adult care for Duchenne muscular dystrophy in the UK.

scientific article

Critical points for an accurate human genome analysis.

scientific article published on 4 May 2017

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

scientific article

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

scientific article published in January 2017

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

scientific article published on 23 June 2019

Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.

scientific article published on 23 October 2017

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

scientific article published on 11 January 2016

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

scientific article published on 29 October 2017

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

scientific article published on 27 October 2013

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.

scientific article published in January 2017

Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report

scientific article published on 20 October 2009

Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries

scientific article published on 7 February 2017

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

scientific article published on 27 February 2018

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

scientific article

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

scientific article published on 28 April 2018

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

scientific article

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