Publications by Rachel Thompson - ePrints

Browsing publications by Rachel Thompson.

Newcastle Authors	Title	Year
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
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
Sebastian Kohler Rachel Thompson	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources	2019
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
Rachel Thompson Professor Paolo Missier Professor Hanns Lochmuller	Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome	2019
Rachel Thompson Professor Hanns Lochmuller	A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era	2018
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
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
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
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
Professor Patrick Chinnery Professor Hanns Lochmuller Professor Volker Straub Rachel Thompson Catherine Turner et al.	The Human Phenotype Ontology in 2017	2017
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
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
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
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
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
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
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
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