Publications

• Chuah, A, Walters, G, Christiadi, D et al. 2022, 'Machine Learning Improves Upon Clinicians' Prediction of End Stage Kidney Disease', Frontiers in Medicine, vol. 9, pp. 1-9.
• Chuah, A, Li, X, Do, N et al. 2022, 'StabilitySort: assessment of protein stability changes on a genome-wide scale to prioritize potentially pathogenic genetic variation', Bioinformatics, vol. 38, no. 17, pp. 4220-4222.
• Sutton, H, Aye, R, Aye, R et al. 2021, 'Atypical B cells are part of an alternative lineage of B cells that participates in responses to vaccination and infection in humans', Cell Reports, vol. 34, no. 6, pp. 1-22.
• McConnell, H, Andrews, D & Field, M 2021, 'Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants', PeerJ, vol. 9, pp. 1-15.
• Kayagaki, N, Kornfeld, O, Stowe, I et al. 2021, 'NINJ1 mediates plasma membrane rupture during lytic cell death', Nature, vol. 591, no. 7848, pp. 131-136.
• Lea-Henry, T, Chuah, A, Stanley, M et al. 2021, 'Increased burden of rare variants in genes of the endosomal Toll-like receptor pathway in patients with systemic lupus erythematosus', LUPUS, vol. 30, no. 11, pp. 1756-1763.
• Howson, L, Awad, W, von Borstel, A et al. 2020, 'Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in MR1', Science Immunology, vol. 5, no. 49.
• Kayagaki, N, Lee, B, Stowe, I et al. 2019, 'IRF2 transcriptionally induces GSDMD expression for pyroptosis', Science Signaling, vol. 12, no. 582.
• Jiang, S, Athanasopoulos, V, Ellyard, J et al. 2019, 'Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus', Nature Communications, vol. 10, no. 2201, pp. 1-12.
• Arsov, T, Xie, C, Shen, N et al. 2019, 'Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones', Thyroid Research, vol. 12, no. 7, pp. 1-5.
• Field, M, Burgio, G, Chuah, A et al. 2019, 'Recurrent miscalling of missense variation from short-read genome sequence data', BMC Genomics, vol. 20, no. 8, pp. 1-9.
• Andrews, D, Jeelall, Y, Talaulikar, D et al. 2016, 'DeepSNVMiner: A sequence analysis tool to detect emergent, rare mutations in subsets of cell populations', PeerJ, vol. 4, no. 5, pp. -.
• Wu, Z, Liang, R, Ohnesorg, T et al. 2016, 'Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion', PLoS Genetics, vol. 12, no. 5, pp. e1006067-e1006067.
• Sabouri-Thompson, Z, Perotti, S, Spierings, E, Humburg P, Yabas M, Bergmann H, Horikawa K, Roots C, Lambe S, Young C, Andrews TD, Field M, Enders A*, Reed JH*, Goodnow CC* (*Equal contribution) 2016, 'IgD attenuates the IgM-induced anergy response in transitional and mature B cells', Nature Communications, vol. 7, p. 13381.
• Wu, Z, Liang, R, Ohnesorg, T et al 2016, 'Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion', PLoS Genetics, vol. 12, no. 5, pp. -.
• Johar, A, Anaya, J, Andrews, D et al. 2015, 'Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture', Autoimmunity Reviews, vol. 14, no. 3, pp. 204-209.
• Johar, A, Mastronardi, C, Rojas-Villarraga, A et al. 2015, 'Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome', Journal of Translational Medicine, vol. 13, no. 173, pp. 173-173.
• Taupin, D, Lam, W, Rangiah, D et al. 2015, 'A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred', Human Genome Variation, vol. 2, pp. 15013 (3 pp).
• Field, M, Cho, E, Andrews, D et al. 2015, 'Reliably detecting clinically important variants requires both combined variant calls and optimized filtering strategies', PLOS ONE (Public Library of Science), vol. 10, no. 11, pp. e0143199-e0143199.
• Field, M.A., Cho, V., Cook, M.A., Enders, A., Vinuesa, C.G., Whittle, B., Andrews, T.D. and C.C. Goodnow 2015, 'Reducing the search space for causal genetic variants with VASP', Bioinformatics, pp. 1-3.
• Miosge, L. A., M. A. Field, Y. Sontani, V. Cho, S. Johnson, A. Palkova, B. Balakishnan, R. Liang, Y. Zhang, S. Lyon, B. Beutler, B. Whittle, E. M. Bertram, A. Enders, C. C, Goodnow and T. D. Andrews. 2015, 'Comparison of predicted and actual consequences of missense mutations', PNAS - Proceedings of the National Academy of Sciences of the United States of America, vol. 112, no. 37, pp. E5189-E5198.
• Ellyard, J, Jerjen, R, Martin, J et al. 2014, 'Identification of a Pathogenic Variant in TREX1 in Early-Onset Cerebral Systemic Lupus Erythematosus by Whole-Exome Sequencing', Arthritis & Rheumatism, vol. 66, no. 12, pp. 3382-3386.
• Alic, N, Giannakou, M, Papatheodorou, I et al. 2014, 'Interplay of dFOXO and Two ETS-Family Transcription Factors Determines Lifespan in Drosophila melanogaster', PLoS Genetics, vol. 10, no. 9, pp. e1004619-e1004619.
• Lee, E, Fulcher, D, Whittle, B et al. 2014, 'Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100', Blood, vol. 124, no. 19, pp. 2964-2972.
• Cho, V., Mei, Y., Sanny, A., Chan, S., Enders, A., Bertram, E. M., Tan, A., Goodnow, C. C. & Andrews, T. D. 2014, 'The RNA-binding protein hnRNPLL induces a T cell alternative splicing program delineated by differential intron retention in polyadenylated RNA', Genome Biology, vol. 15, no. 1, pp. R26/1-17.
• Enders, A., Short, A., Miosge, L. A., Bergmann, H., Sontani, Y., Bertram, E. M., Whittle, B., Balakishnan, B., Yoshida, K., Sjollema, G., Field, M. A., Andrews, T. D., Hagiwara, H. & Goodnow, C. C. 2014. 'Zinc-finger protein ZFP318 is essential for expression of IgD, the alternatively spliced Igh product made by mature B lymphocytes', PNAS - Proceedings of the National Academy of Sciences of the United States of America, vol. 111, no. 12, pp. 4513-4518.
• Andrews, D, Sjollema, G & Goodnow, C 2013, 'Understanding the immunological impact of the human mutation explosion', Trends in Immunology, vol. 34, no. 3, pp. 99-106.
• Bergmann, H., Yabas, M., Short, A., Miosge, L., Barthel, N., Teh, C.E., Roots, C.M., Bull, K.R., Jeelall, Y., Horikawa, K., Whittle, B., Balakishnan, B., Sjollema, G., Bertram, E.M. Mackay, F., Rimmer, A.J., Cornall, R.J., Field, M.A., Andrews, T.D., Goodnow, C.C. and A. Enders 2013, 'B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPl2A', Journal of Experimental Medicine, vol. 210, no. 1, pp. 31-40.
• Myers, D. R., Polakos, N. K., Enders, A., Roots, C. M., Balakishnan, B., Miosge, L. A., Sjollema, G., Bertram, E. M., Field, M. A., Shao, Y., Andrews, T. D., Whittle, B., Barnes, S. W., Walker, J. R., Cyster, J. G., Goodnow, C. C. & Roose, J. P. 2013, 'Rasgrp1 mutation increases naive T-cell CD44 expression and drives mTOR-dependent accumulation of Helios⁺ T cells and autoantibodies', eLife, vol. 2013, no. 2, pp. 1-26.
• Andrews, T. D., Whittle, B., Field, M. A., Balakishnan, B., Zhang, Y., Shao, Y., Cho, V., Kirk, M., Singh, M., Xia, Y., Hager, J., Winslade, S., Sjollema, G., Beutler, B., Enders, A. & Goodnow, C. C. 2012. Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models. Open biology, 2, 120061.
• Alic, N, Andrews, D, Giannakou, M et al. 2011, 'Genome-wide dFOXO targets and topology of the transcriptomic response to stress and insulin signalling', Molecular Systems Biology, vol. 7, pp. 1-17.
• Yabas, M., Teh, C. E., Frankenreiter, S., Lal, D., Roots, C. M., Whittle, B., Andrews, D. T., Zhang, Y., Teoh, N. C., Sprent, J., Tze, L. E., Kucharska, E. M., Kofler, J., Farell, G. C., Bröer, S., Goodnow, C. C. & Enders, A. 2011. ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes. Nature Immunology, 12, 441-449.
• Conrad, D, Pinto, D, Redon, R et al. 2010, 'Origins and functional impact of copy number variation in the human genome', Nature, vol. 464, no. 7289, pp. 704-712.
• Gronke, S, Clarke, D, Broughton, S et al. 2010, 'Molecular Evolution and Functional Characterization of Drosophila Insulin-Like Peptides', PLoS Genetics, vol. 6, no. 2, pp. e1000857-e1000857.
• Craddock, N, Hurles, M, Cardin, N et al. 2010, 'Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls', Nature, vol. 464, no. 7289, pp. 713-U86.
• Marioni, J, Thorne, N, Valsesia, A et al. 2007, 'Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization', Genome Biology, vol. 8, pp. r228.
• Fiegler, H, Redon, R, Andrews, D et al. 2006, 'Accurate and reliable high-throughput detection of copy number variation in the human genome', Genome Research, vol. 16, pp. 1566-1574.
• Gregory, S, Barlow, K, McLay, K et al. 2006, 'The DNA sequence and biological annotation of human chromosome 1', Nature, vol. 441, pp. 315-321.
• Birney, E, Andrews, D, Caccamo, M et al. 2006, 'Ensembl 2006', Nucleic Acids Research, vol. 34, pp. D447-453.
• Conrad, D, Andrews, D, Carter, N et al. 2006, 'A high-resolution survey of deletion polymorphism in the human genome', Nature Genetics, vol. 38, no. 1, pp. 75-81.
• Redon, R, Ishikawa, S, Fitch, K et al. 2006, 'Global variation in copy number in the human genome', Nature, vol. 444, pp. 444-454.
• Ross, M, Grafham, D, Coffey, A et al. 2005, 'The DNA sequence of the human X chromosome', Nature, vol. 434, pp. 325-337.

Projects and Grants

Grants information is drawn from ARIES. To add or update Projects or Grants information please contact your College Research Office.

• Improving genetic diagnosis of autoimmune and autoinflammatory disease through an integrated multi-omics approach (Secondary Investigator)
• Personalised medicine in the treatment of complex autoimmunity and autoinflammatory disease (Secondary Investigator)
• Enhanced data assets for Genomic Medicine - Integrating clinical and experimental genotype-phenotype data for biomedical discovery and disease management. (Secondary Investigator)
• AUTO-CHECK study: Molecular determinants of autoimmunity and immune related adverse events in advanced cancer patients treated with immune checkpoint inhibitors (Secondary Investigator)
• The identification of new epilepsy genes by whole genome sequencing (Secondary Investigator)
• How BANK1 pathway defects in B cells cause human lupus (Secondary Investigator)
• De novo mutations and the pathogenesis of childhood-onset autoimmune disease (Secondary Investigator)