Dr Katherine Johnson Dr Ana Topf Rachel Thompson Professor Hanns Lochmuller Professor Volker Straub et al. | Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies | 2020 |
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Dr Ana Topf Sunitha Balaraju Rachel Thompson Dr Andreas Roos Professor Hanns Lochmuller et al. | Severe neurodevelopmental disease caused by a homozygous TLK2 variant | 2020 |
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Sebastian Kohler Rachel Thompson
| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources | 2019 |
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Rachel Thompson Dr Ana Topf Professor Paolo Missier Professor Hanns Lochmuller
| Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder | 2019 |
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Rachel Thompson Professor Paolo Missier Professor Hanns Lochmuller
| Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome | 2019 |
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Rachel Thompson Professor Hanns Lochmuller
| A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era | 2018 |
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Dr Andreas Roos Rachel Thompson Professor Rita Horvath Professor Hanns Lochmuller
| Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases | 2018 |
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Professor Hanns Lochmuller Dr Dorota Badowska Rachel Thompson Professor Annemieke Aartsma-Rus Libby Wood et al. | RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases | 2018 |
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Dr David Owen Dr Ana Topf Daniel Cox Dr Teresinha Evangelista John Dawson et al. | Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness | 2018 |
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Professor Hanns Lochmuller Emerita Professor Katherine Bushby Rachel Thompson Victoria Hedley
| Improved diagnosis and care for rare diseases through implementation of precision public health framework | 2017 |
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Professor Patrick Chinnery Professor Hanns Lochmuller Professor Volker Straub Rachel Thompson Catherine Turner et al. | The Human Phenotype Ontology in 2017 | 2017 |
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Libby Wood Dr Isabell Cordts Dr Jose Atalaia Professor Chiara Marini Bettolo Professor Volker Straub et al. | The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research | 2017 |
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Rachel Thompson Professor Hanns Lochmuller
| Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide | 2016 |
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Dr Andreas Roos Rachel Thompson Professor Volker Straub Professor Hanns Lochmuller
| RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange | 2016 |
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Catherine Turner Emerita Professor Katherine Bushby Dr Louise Johnston Professor Hanns Lochmuller Professor Volker Straub et al. | Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease | 2015 |
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Olav Veldhuizen Dr Claire Wood Dr Alex Murphy Rachel Thompson Professor Volker Straub et al. | ScanBank - The development of an online database for neuromuscular MRI scans | 2015 |
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Dr Catherine Bladen Rachel Thompson Dr Karen Rafferty Professor Volker Straub Emerita Professor Katherine Bushby et al. | Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe | 2014 |
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Rachel Thompson Dr Louise Johnston Dr Monica Ensini Emma Heslop Emerita Professor Katherine Bushby et al. | RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research | 2014 |
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Dr Louise Johnston Rachel Thompson Catherine Turner Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al. | The impact of integrated omics technologies for patients with rare diseases | 2014 |
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