Claire Bethune
University Hospitals Plymouth NHS Trust(GB)
Publications by Year
Research Areas
Immunodeficiency and Autoimmune Disorders, SARS-CoV-2 and COVID-19 Research, COVID-19 Clinical Research Studies, Coagulation, Bradykinin, Polyphosphates, and Angioedema, Cystic Fibrosis Research Advances
Most-Cited Works
- → Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease(2016)478 cited
- → Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency(2010)424 cited
- → C1 inhibitor deficiency: consensus document(2005)411 cited
- → Whole-genome sequencing of a sporadic primary immunodeficiency cohort(2020)234 cited
- → Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans(2018)228 cited
- → HAE international home therapy consensus document(2010)162 cited
- → Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease(2018)144 cited
- → Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations(2020)122 cited
- → The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008–2012(2013)106 cited
- → Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data(2018)90 cited