Lorne Lonie
Centre for Human Genetics(GB)University of Oxford(GB)
Publications by Year
Research Areas
SARS-CoV-2 and COVID-19 Research, SARS-CoV-2 detection and testing, COVID-19 Clinical Research Studies, COVID-19 epidemiological studies, Cancer Genomics and Diagnostics
Most-Cited Works
- → Identification and Characterization of Enhancers Controlling the Inflammatory Gene Expression Program in Macrophages(2010)652 cited
- → Factors influencing success of clinical genome sequencing across a broad spectrum of disorders(2015)386 cited
- → Severity of disease and risk of malignant change in hereditary multiple exostoses(2004)215 cited
- → Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families(2002)212 cited
- → Prevalence of persistent SARS-CoV-2 in a large community surveillance study(2024)139 cited
- → Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden(2014)113 cited
- → Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses(2000)86 cited
- → Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes(2013)75 cited
- → Erythrocytosis associated with a novel missense mutation in the BPGM gene(2014)58 cited
- → Determination of the mutation spectrum of theEXT1/EXT2genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes inEXTnegative cases(2006)52 cited