Institution
Cardiff University
Education•Cardiff, United Kingdom•
About: Cardiff University is a education organization based out in Cardiff, United Kingdom. It is known for research contribution in the topics: Population & Context (language use). The organization has 34188 authors who have published 82643 publications receiving 3046531 citations. The organization is also known as: University of Cardiff & University College of South Wales and Monmouthshire.
Topics: Population, Context (language use), Catalysis, Galaxy, Poison control
Papers published on a yearly basis
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University College London1, London Research Institute2, University of Leicester3, Francis Crick Institute4, University of Manchester5, University of Birmingham6, Glenfield Hospital7, Middlesex University8, Princess Alexandra Hospital NHS Trust9, Cardiff University10, University of Oxford11, Max Delbrück Center for Molecular Medicine12, Katholieke Universiteit Leuven13
TL;DR: Intratumor heterogeneity mediated through chromosome instability was associated with an increased risk of recurrence or death, a finding that supports the potential value of chromosome instability as a prognostic predictor.
Abstract: BackgroundAmong patients with non–small-cell lung cancer (NSCLC), data on intratumor heterogeneity and cancer genome evolution have been limited to small retrospective cohorts. We wanted to prospectively investigate intratumor heterogeneity in relation to clinical outcome and to determine the clonal nature of driver events and evolutionary processes in early-stage NSCLC. MethodsIn this prospective cohort study, we performed multiregion whole-exome sequencing on 100 early-stage NSCLC tumors that had been resected before systemic therapy. We sequenced and analyzed 327 tumor regions to define evolutionary histories, obtain a census of clonal and subclonal events, and assess the relationship between intratumor heterogeneity and recurrence-free survival. ResultsWe observed widespread intratumor heterogeneity for both somatic copy-number alterations and mutations. Driver mutations in EGFR, MET, BRAF, and TP53 were almost always clonal. However, heterogeneous driver alterations that occurred later in evolution w...
1,679 citations
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Stephan Ripke1, Alan R. Sanders2, Kenneth S. Kendler3, Douglas F. Levinson4 +207 more•Institutions (71)
TL;DR: The authors examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects.
Abstract: We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded genome-wide significant associations with schizophrenia for seven loci, five of which are new (1p21.3, 2q32.3, 8p23.2, 8q21.3 and 10q24.32-q24.33) and two of which have been previously implicated (6p21.32-p22.1 and 18q21.2). The strongest new finding (P = 1.6 x 10(-11)) was with rs1625579 within an intron of a putative primary transcript for MIR137 (microRNA 137), a known regulator of neuronal development. Four other schizophrenia loci achieving genome-wide significance contain predicted targets of MIR137, suggesting MIR137-mediated dysregulation as a previously unknown etiologic mechanism in schizophrenia. In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 x 10(-9)), ANK3 (rs10994359, P = 2.5 x 10(-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 x 10(-9)).
1,671 citations
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TL;DR: Proposed MIC values are not the final answer but offer a common starting point for future research and facilitate the use of these measures in clinical practice and the comparability of future studies.
Abstract: Study Design. Literature review, expert panel, and a workshop during the "VIII International Forum on Primary Care Research on Low Back Pain" (Amsterdam, June 2006). Objective. To develop practical guidance regarding the minimal important change (MIC) on frequently used measures of pain and functional status for low back pain. of Background Data. Empirical studies have tried to determine meaningful changes for back pain, using different methodologies. This has led to confusion about what change is clinically important for commonly used back pain outcome measures. Methods. This study covered the Visual Analogue Scale (0-100) and the Numerical Rating Scale (0-10) for pain and for function, the Roland Disability Questionnaire (0-24), the Oswestry Disability Index (0-100), and the Quebec Back Pain Disability Questionnaire (0-100). The literature was reviewed for empirical evidence. Additionally, experts and participants of the VIII International Forum on Primary Care Research on Low Back Pain were consulted to develop international consensus on clinical interpretation. Results. There was wide variation in study design and the methods used to estimate MICs, and in values found for MIC, where MIC is the improvement in clinical status of an individual patient. However, after discussion among experts and workshop participants a reasonable consensus was achieved. Proposed MIC values are: 15 for the Visual Analogue Scale, 2 for the Numerical Rating Scale, 5 for the Roland Disability Questionnaire, 10 for the Oswestry Disability Index, and 20 for the QBDQ. When the baseline score is taken into account, a 30% improvement was considered a useful threshold for identifying clinically meaningful improvement on each of these measures. Conclusion. For a range of commonly used back pain outcome measures, a 30% change from baseline may be considered clinically meaningful improvement when comparing before and after measures for individual patients. It is hoped that these proposals facilitate the use of these measures in clinical practice and the comparability of future studies. The proposed MIC values are not the final answer but offer a common starting point for future research.
1,651 citations
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TL;DR: Analysis of outcomes of 5876 patients treated in Medical Research Council trials allows more reliable prediction of outcome for patients with rarer abnormalities and may facilitate the development of consensus in reporting of karyotypic information in clinical trials involving younger adults with AML.
1,651 citations
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TL;DR: Pathway analysis implicates immunity, lipid metabolism, tau binding proteins, and amyloid precursor protein (APP) metabolism, showing that genetic variants affecting APP and Aβ processing are associated not only with early-onset autosomal dominant Alzheimer’s disease but also with LOAD.
Abstract: Risk for late-onset Alzheimer’s disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer’s or dementia. Fine-mapping of the human leukocyte antigen (HLA) region confirms the neurological and immune-mediated disease haplotype HLA-DR15 as a risk factor for LOAD. Pathway analysis implicates immunity, lipid metabolism, tau binding proteins, and amyloid precursor protein (APP) metabolism, showing that genetic variants affecting APP and Aβ processing are associated not only with early-onset autosomal dominant Alzheimer’s disease but also with LOAD. Analyses of risk genes and pathways show enrichment for rare variants (P = 1.32 × 10−7), indicating that additional rare variants remain to be identified. We also identify important genetic correlations between LOAD and traits such as family history of dementia and education.
1,641 citations
Authors
Showing all 34629 results
Name | H-index | Papers | Citations |
---|---|---|---|
Rob Knight | 201 | 1061 | 253207 |
Stephen V. Faraone | 188 | 1427 | 140298 |
John J.V. McMurray | 178 | 1389 | 184502 |
David R. Williams | 178 | 2034 | 138789 |
John Hardy | 177 | 1178 | 171694 |
Dorret I. Boomsma | 176 | 1507 | 136353 |
Kay-Tee Khaw | 174 | 1389 | 138782 |
Anders Björklund | 165 | 769 | 84268 |
Edward T. Bullmore | 165 | 746 | 112463 |
Peter A. R. Ade | 162 | 1387 | 138051 |
Michael John Owen | 160 | 1110 | 135795 |
Gavin Davies | 159 | 2036 | 149835 |
Suvadeep Bose | 154 | 960 | 129071 |
Todd Adams | 154 | 1866 | 143110 |
John R. Hodges | 149 | 812 | 82709 |