Rachel Thompson

Ontology type: schema:Person     

Person Info





Publications in SciGraph latest 50 shown

  • 2021-03-22 Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome in ORPHANET JOURNAL OF RARE DISEASES
  • 2020-08-12 A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome in ORPHANET JOURNAL OF RARE DISEASES
  • 2020-02-27 Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis in EUROPEAN JOURNAL OF EPIDEMIOLOGY
  • 2019-09-26 Severe neurodevelopmental disease caused by a homozygous TLK2 variant in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-01-09 An ontological foundation for ocular phenotypes and rare eye diseases in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-11-26 A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-02-27 RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12-07 Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease in RARE DISEASES EPIDEMIOLOGY: UPDATE AND OVERVIEW
  • 2017-12-07 Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework in RARE DISEASES EPIDEMIOLOGY: UPDATE AND OVERVIEW
  • 2017-04-10 The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research in JOURNAL OF NEUROLOGY
  • 2017-02-07 Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries in JOURNAL OF NEUROLOGY
  • 2016-04-01 Limb-girdle muscular dystrophies — international collaborations for translational research in NATURE REVIEWS NEUROLOGY
  • 2016-01-11 KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors in JOURNAL OF NEUROLOGY
  • 2014-12-24 Adult care for Duchenne muscular dystrophy in the UK in JOURNAL OF NEUROLOGY
  • 2014-07-17 RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research in JOURNAL OF GENERAL INTERNAL MEDICINE
  • 2013-10-27 Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe in JOURNAL OF NEUROLOGY
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