Dr Kerrin Small Academics Supervisors Reader in Genomics School Academic Lead, Research and Impact, School of Life Course Sciences. Contact details kerrin.small@kcl.ac.uk
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution Koprulu, M., Zhao, Y., Wheeler, E., Dong, L., Rocha, N., Li, C., Griffin, J. D., Patel, S., Van De Streek, M., Glastonbury, C. A., Stewart, I. D., Day, F. R., Luan, J., Bowker, N., Wittemans, L. B. L., Kerrison, N. D., Cai, L., Lucarelli, D. M. E., Barroso, I., McCarthy, M. I. & 10 others, Scott, R. A., Saudek, V., Small, K. S., Wareham, N. J., Semple, R. K., Perry, J. R. B., O'Rahilly, S., Lotta, L. A., Langenberg, C. & Savage, D. B., 1 Apr 2022, In: Journal of Clinical Endocrinology and Metabolism. 107, 4, p. 1065-1077 13 p. Research output: Contribution to journal › Article › peer-review. DOIs: https://doi.org/10.1210/clinem/dgab877 Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes AMP-T2D-GENES Consortia, Dec 2021, In: Nature Communications. 12, 1, 3505. Research output: Contribution to journal › Article › peer-review. DOIs: https://doi.org/10.1038/s41467-021-23556-4 Further evidence supporting a potential role for ADH1B in obesity Morales, L. D., Cromack, D. T., Tripathy, D., Fourcaudot, M., Kumar, S., Curran, J. E., Carless, M., Göring, H. H. H., Hu, S. L., Lopez-Alvarenga, J. C., Garske, K. M., Pajukanta, P., Small, K. S., Glastonbury, C. A., Das, S. K., Langefeld, C., Hanson, R. L., Hsueh, W. C., Norton, L., Arya, R. & 5 others, Mummidi, S., Blangero, J., DeFronzo, R. A., Duggirala, R. & Jenkinson, C. P., Dec 2021, In: Scientific Reports. 11, 1, 1932. Research output: Contribution to journal › Article › peer-review. DOIs: https://doi.org/10.1038/s41598-020-80563-z Current smoking and COVID-19 risk: results from a population symptom app in over 2.4 million people Hopkinson, N. S., Rossi, N., El-Sayed Moustafa, J., Laverty, A. A., Quint, J. K., Freidin, M., Visconti, A., Murray, B., Modat, M., Ourselin, S., Small, K., Davies, R., Wolf, J., Spector, T. D., Steves, C. J. & Falchi, M., 1 Jul 2021, In: Thorax. 76, 7, p. 714-722 9 p. Research output: Contribution to journal › Article › peer-review. DOIs: https://doi.org/10.1136/thoraxjnl-2020-216422 Novel DNA methylation signatures of tobacco smoking with trans-ethnic effects Christiansen, C., Bell, J., Small, K., Castillo Fernandez, J., El-Sayed Moustafa, J., Maddock, J., Tsai, P-C., Molokhia, M., Suderman, M., Power, C., Relton, C., Wong, A., Kuh, D., Goodman, A., Ploubidis, G. B., Hardy, R., Domingo-Relloso, A., Smith, J. A., Wei, Z., Kardia, S. L. R. & 4 others, Haack, K., Cole, S., Tellez-Plaza, M. & Navas-Acien, A., 24 Jan 2021, (Accepted/In press) In: Clinical Epigenetics . Research output: Contribution to journal › Article › peer-review Probable delirium is a presenting symptom of COVID-19 in frail, older adults: a cohort study of 322 hospitalised and 535 community-based older adults Zazzara, M. B., Penfold, R. S., Roberts, A. L., Lee, K. A., Dooley, H., Sudre, C. H., Welch, C., Bowyer, R. C. E., Visconti, A., Mangino, M., Freidin, M. B., El-sayed Moustafa, J. S., Small, K. S., Murray, B., Modat, M., Graham, M. S., Wolf, J., Ourselin, S., Martin, F. C., Steves, C. J. & 1 others, Lochlainn, M. N., 8 Jan 2021, In: Age and Ageing. 50, 1, p. 40-48 9 p. Research output: Contribution to journal › Article › peer-review. DOIs: https://doi.org/10.1093/ageing/afaa223 RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro Loh, N. Y., Minchin, J. E. N., Pinnick, K. E., Verma, M., Todorčević, M., Denton, N., Moustafa, J. E. S., Kemp, J. P., Gregson, C. L., Evans, D. M., Neville, M. J., Small, K. S., McCarthy, M. I., Mahajan, A., Rawls, J. F., Karpe, F. & Christodoulides, C., 1 Dec 2020, In: Nature Communications. 11, 1, 2797. Research output: Contribution to journal › Article › peer-review. DOIs: https://doi.org/10.1038/s41467-020-16592-z 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 › peer-review. DOIs: https://doi.org/10.1038/s41467-020-14483-x X chromosome dosage of histone demethylase KDM5C determines sex differences in adiposity Link, J. C., Wiese, C. B., Chen, X., Avetisyan, R., Ronquillo, E., Ma, F., Guo, X., Yao, J., Allison, M., Chen, Y. D. I., Rotter, J. I., El-Sayed Moustafa, J. S., Small, K. S., Iwase, S., Pellegrini, M., Vergnes, L., Arnold, A. P. & Reue, K., 2 Nov 2020, In: The Journal of clinical investigation. 130, 11, p. 5688-5702 15 p. Research output: Contribution to journal › Article › peer-review. DOIs: https://doi.org/10.1172/JCI140223 Cell type-specific genetic regulation of gene expression across human tissues GTEx Consortium, 11 Sep 2020, In: Science (New York, N.Y.). 369, 6509, eaaz8528. Research output: Contribution to journal › Article › peer-review. DOIs: https://doi.org/10.1126/science.aaz8528 View all publications
17 August 2020 Molecule in fat tissue could be linked to severe COVID-19, study finds Low levels of a key molecule in fat tissue are linked with health conditions that are risk factors…