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Browsing publications by Rachel Thompson

Newcastle AuthorsTitleYearFull text
Sebastian Kohler
Rachel Thompson
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources2019
Rachel Thompson
Dr Ana Topf
Dr Paolo Missier
Professor Hanns Lochmuller
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder2019
Rachel Thompson
Dr Paolo Missier
Professor Hanns Lochmuller
Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome2019
Rachel Thompson
Professor Hanns Lochmuller
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era2018
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 Diseases2018
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 diseases2018
Dr David Owen
Dr Ana Topf
Daniel Cox
Dr Teresinha Evangelista
Rachel Thompson
et al.
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness2018
Professor Hanns Lochmuller
Professor Katherine Bushby
Rachel Thompson
Victoria Hedley
Improved diagnosis and care for rare diseases through implementation of precision public health framework2017
Professor Patrick Chinnery
Professor Hanns Lochmuller
Professor Volker Straub
Rachel Thompson
Catherine Turner
et al.
The Human Phenotype Ontology in 20172017
Libby Wood
Dr Isabell Cordts
Dr Jose Atalaia
Dr Chiara Marini Bettolo
Professor Volker Straub
et al.
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research2017
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