St James's University Hospital

Pan-cancer analysis of whole genomes

EAU-EANM-ESTRO-ESUR-SIOG Guidelines on Prostate Cancer—2020 Update. Part 1: Screening, Diagnosis, and Local Treatment with Curative Intent

ECCO-ESGAR Guideline for Diagnostic Assessment in IBD Part 1: Initial diagnosis, monitoring of known IBD, detection of complications

This new diagnostic consensus guideline is a joint project of the European Crohn’s and Colitis Organisation [ECCO] and the European Society of Gastrointestinal and Abdominal Rad...

EANO guidelines on the diagnosis and treatment of diffuse gliomas of adulthood

iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL

Abstract The previous edition of the consensus guidelines of the International Workshop on Chronic Lymphocytic Leukemia (iwCLL), published in 2008, has found broad acceptance by...

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Multifactorial Analysis of Differences Between Sporadic Breast Cancers and Cancers Involving BRCA1 and BRCA2 Mutations

Our study has identified key features of the histologic phenotypes of breast cancers in carriers of mutant BRCA1 and BRCA2 genes. This information may improve the classification...

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Abstract Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (...

[¹⁸F]flutemetamol amyloid positron emission tomography in preclinical and symptomatic Alzheimer's disease: Specific detection of advanced phases of amyloid‐β pathology

Abstract Background Amyloid positron emission tomography (PET) has become an important tool to identify amyloid‐β (Aβ) pathology in Alzheimer's disease (AD) patients. Here, we d...

The differentiation of anxiety and depression by rating scales