Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information International Parkinson's Disease Genomics Consortium (IPDGC) & UK Brain Expression Consortium (UKBEC), 1 Dec 2020, In : Nature Communications. 11, 1, 1041. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1038/s41467-020-14483-x Concordance for clonal hematopoiesis is limited in elderly twins Fabre, M. A., McKerrell, T., Zwiebel, M., Vijayabaskar, M. S., Park, N. R., Wells, P. M., Rad, R., Deloukas, P., Small, K. S., Steves, C. J. & Vassiliou, G. S., 23 Jan 2020, In : Blood. 135, 4, p. 269-273 5 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1182/blood.2019001807 TwinsUK: The UK Adult Twin Registry Update Verdi, S., Abbasian, G., Bowyer, R. C. E., Lachance, G., Yarand, D., Christofidou, P., Mangino, M., Menni, C., Bell, J. T., Falchi, M., Small, K. S., Williams, F. M. K., Hammond, C. J., Hart, D. J., Spector, T. D. & Steves, C. J., 17 Sep 2019, In : TWIN RESEARCH AND HUMAN GENETICS. p. 1-7 7 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1017/thg.2019.65 TwinsUK: The UK Adult Twin Registry Update Steves, C. J., Menni, C., Spector, T. D., Small, K. S., Christofidou, P., Williams, F. M. K., Hammond, C. J., Hart, D. J. & Bowyer, R. C. E., 26 Jun 2019, (Accepted/In press) In : TWIN RESEARCH AND HUMAN GENETICS. Research output: Contribution to journal - Article Cell-type heterogeneity in adipose tissue is associated with complex traits and reveals disease-relevant cell-specific eQTLs Glastonbury, C. A., Couto Alves, A., El-Sayed Moustafa, J. S. & Small, K. S., 6 Jun 2019, In : American Journal of Human Genetics. 104, 6, p. 1013-1024 12 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1016/j.ajhg.2019.03.025 Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls Broad Genomics Platform, DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES & AMP-T2D-GENES, 6 Jun 2019, In : Nature. 570, 7759, p. 71-76 6 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1038/s41586-019-1231-2 Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (Nature Genetics, (2018), 50, 1, (26-41), 10.1038/s41588-017-0011-x) CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC-InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-GENES Consortium, The MAGIC Investigators & Understanding Society Scientific Group, 3 Jun 2019, In : Nature Genetics. 2 p. Research output: Contribution to journal - Comment/debate. DOIs: https://doi.org/10.1038/s41588-019-0447-2 Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Simpson, M. A., Prigmore, E., Jones, P., Armstrong, R., Bennett, C., Berg, J., Bernhard, B., Cooper, N., Cox, H., Flinter, F., Fry, A., Gill, H., Gray, E., Harrison, V., Irving, M., Josifova, D., Langman, C. & 44 others, Mohammed, S., Moore, D., Murphy, H., Roberts, J., Tischkowitz, M., Wright, M., Bolton, P., Breen, G., Clement, G., Collier, D., Curran, S., Ellis, P., Evans, D., Hart, D., Hubbard, T., Hysi, P., Jamshidi, Y., Lachance, G., Lopes, M., McGuffin, P., Metrustry, S., Moayyeri, A., Onoufriadis, A., Parr, J. R., Quaye, L., Sharp, S. I., Small, K., Spasic-Boskovic, O., Stevens, E., Valdes, A., Walters, J. T. R., Wang, Y., Bennett, D., Bradley, J. R., Davis, J., Koziell, A., Machado, R., Richards, M., Smith, K., Southgate, L., Thomas, E., Trembath, R., Williamson, C. & Yong, P., 2 May 2019, In : American Journal of Human Genetics. 104, 5, p. 948-956 9 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1016/j.ajhg.2019.03.005 Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution T2D-GENES Consortium, The MAGIC Investigators, CHD Exome+ Consortium, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, InterAct & ReproGen Consortium, 1 Mar 2019, In : Nature Genetics. 51, 3, p. 452-469 18 p. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1038/s41588-018-0334-2 Epigenetic findings in periodontitis in UK twins: a cross sectional study Kurushima, Y., Tsai, P-C., Castillo-Fernandez, J., Couto Alves, A., El-Sayed Moustafa, J. S., Le Roy, C., Ide, M., Hughes, F. J., Glastonbury, C. A., Small, K. S., Steves, C. J. & Bell, J. T., 2019, In : Clinical Epigenetics . 11, 27. Research output: Contribution to journal - Article. DOIs: https://doi.org/10.1186/s13148-019-0614-4 View all publications
25 November 2019 X chromosome differences in women could affect accuracy of genetic tests for health risk Researchers have found that the X chromosome in women shows up differently in different parts of the…