Publications

Results for: biotechnology

  1. Published

    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    ITALSGEN Consortium, 2018, In: Neuron. 97, 6, p. 1268-1283.e6

    Research output: Contribution to journalArticlepeer-review

  2. Published

    Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

    NBCS Collaborators, 16 Jun 2020, In: Scientific Reports. 10, 1, p. 9688

    Research output: Contribution to journalArticlepeer-review

  3. Published

    Untargeted Molecular Analysis of Exhaled Breath as a Diagnostic Test for Ventilator-Associated Lower Respiratory Tract Infections (BreathDx)

    BreathDx Consortium, 4 Jun 2021, In: Thorax. 217362.

    Research output: Contribution to journalArticlepeer-review

  4. Published

    Mapping atopic dermatitis and anti-IL-22 response signatures to type 2-low severe neutrophilic asthma

    U-BIOPRED Study Group, 19 Apr 2021, In: The Journal of allergy and clinical immunology.

    Research output: Contribution to journalArticlepeer-review

  5. Published

    Associations of obesity and circulating insulin and glucose with breast cancer risk: A Mendelian randomization analysis

    Breast Cancer Association Consortium, Evans, D. G. & Howell, A., 2018, In: International Journal of Epidemiology.

    Research output: Contribution to journalLetterpeer-review

  6. Published

    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

    The International Consortium for Blood Pressure Genome-Wide Association Studies, 11 Sep 2011, In: Nature. 478, 7367, p. 103-109 7 p.

    Research output: Contribution to journalLetterpeer-review

  7. Published

    The RA-MAP Consortium: a working model for academic-industry collaboration

    The RA-MAP Consortium, Symmons, D. & Sergeant, J., 2017, In: Nature Reviews Rheumatology. 14, p. 53-60

    Research output: Contribution to journalArticlepeer-review

  8. Published

    Indirect measurement of sin2θW (or MW) using μ+μ- pairs from γ* /Z bosons produced in p p ̄ collisions at a center-of-momentum energy of 1.96 TeV

    CDF Collaboration, 4 Apr 2014, In: Physical Review D (Particles, Fields, Gravitation and Cosmology). 89, 7, 21 p.

    Research output: Contribution to journalArticlepeer-review

  9. Published

    Guidance on allergenicity assessment of genetically modified plants

    European Food Safety Authority GMO Panel, EFSA Self-task group, Naegeli, H., Birch, A. N., Casacuberta, J., De Schrijver, A., Gralak, M. A., Guerche, P., Javier Moreno, F. & Selb, R., 2017, 48 p. John Wiley & Sons Ltd.

    Research output: Other contribution

  10. Published

    A correction for sample overlap in genome-wide association studies in a polygenic pleiotropy-informed framework

    Schizophrenia and Bipolar Disorder Working Groups of the Psychiatric Genomics Consortium, 2018, In: BMC Genomics. 19, 1, p. 494 494.

    Research output: Contribution to journalArticlepeer-review

  11. Published

    Brentuximab vedotin with chemotherapy for CD30-positive peripheral T-cell lymphoma (ECHELON-2): a global, double-blind, randomised, phase 3 trial

    ECHELON-2 Study Group, 19 Jan 2019, In: Lancet (London, England). 393, 10168, p. 229-240 12 p.

    Research output: Contribution to journalArticlepeer-review

  12. Published

    Chest electrical impedance tomography examination, data analysis, terminology, clinical use and recommendations: Consensus statement of the TRanslational EIT developmeNt stuDy group

    TREND study group, 1 Jan 2017, In: Thorax. 72, 1, p. 83-93 11 p.

    Research output: Contribution to journalReview articlepeer-review

  13. Published

    Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

    EGG Consortium & Morris, A. P., 2019, In: Nature Genetics. 51, 5, p. 804-814 11 p.

    Research output: Contribution to journalArticlepeer-review

  14. Published

    Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes

    PCAWG Evolution and Heterogeneity Working Group, PCAWG Consortium & Wedge, D. C., 15 Apr 2021, In: Cell. 184, 8, p. 2239-2254.e39

    Research output: Contribution to journalArticlepeer-review

  15. Published

    Pan-cancer analysis of whole genomes

    The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Bristow, R., Hayes, S., Wedge, D. & et al., 5 Feb 2020, In: Nature..

    Research output: Contribution to journalArticlepeer-review

  16. Published

    Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

    Genomics England Research Consortium, 9 Jul 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics.

    Research output: Contribution to journalArticlepeer-review

  17. Published

    Scientific Business Abstracts of the 113th Annual Meeting of the Association of Physicians of Great Britain and Ireland

    DDD Study & CHANGE Study Collaborators, CheartED Study Collaborators, 1 Sep 2019, In: QJM : monthly journal of the Association of Physicians. 112, 9, p. 724-729 6 p.

    Research output: Contribution to journalArticlepeer-review

  18. Published

    IEEE Standard for Bioinformatics Analyses Generated by High-Throughput Sequencing (HTS) to Facilitate Communication: IEEE Std 2791-2020

    IEEE P2791 BioCompute Working Group (BCOWG), Mazumder, R. (ed.) & Simonyan, V. (ed.), 11 May 2020, IEEE. 16 p.

    Research output: Book/ReportOther reportpeer-review

  19. Accepted/In press

    A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations

    Genomics England Research Consortium, Jayadev, R., Paiva Teixeira Morais, M., Ellingford, J., Srinivasan, S., Naylor, R., Lawless, C., Li, A. S., Ingham, J. F., Hastie, E., Chi, Q., Fresquet, M., Koudis, N-M., Thomas, H., O'Keefe, R., Williams, E., Adamson, A., Stuart, H., Banka, S., Smedley, D. & 2 others, Sherwood, D. R. & Lennon, R., 22 Feb 2022, (Accepted/In press) In: Science Advances.

    Research output: Contribution to journalArticlepeer-review

  20. Published

    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

    Deciphering Developmental Disorders (DDD) Study, 2019, In: European journal of human genetics : EJHG.

    Research output: Contribution to journalArticlepeer-review

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