My group's research uses large-scale genomic data to address knowledge gaps in disease and health, with a particular focus on cardiovascular disease.
Research programme
1. Using genomic data to improve understanding, prevention and treatment of cardiovascular disease. My research aims to:
· Improve our understanding of heart failure biology. From 2016-2020 I was the lead analyst for the HERMES Consortium, co-leading one of the largest genetic studies of heart failure at the time of publication
· Improve our understanding sex-specific cardiovascular risk
· Improve our understanding cardiovascular comorbidity, particular in psychiatric disorders
· Improve cardiovascular risk assessment in the Australian South Asian population. This pilot study is funded MRFF and aims to lay the foundations for closing the diversity gap in genomics research. See saghaus.org for further details.
2. Pharmacogenomics
· Using genomics to identify drug repurposing opportunities as well as identifying unknown adverse effects of medication
· Developing a genomics pipeline aimed at understanding the mechanism of action of new compounds to facilitate drug discovery.
3. Improving liver transplant outcomes
· Using genomics to understand the effect of normo-thermic perfusion (a new organ storage method) on liver function.
· Using genomics to improve prediction of short and long-term liver transplant outcomes
Career summary: I was awarded my PhD from University College London (UK) in cardiovascular genetics. I began my post-doctoral fellowship under the mentorship of Prof Peter Visscher at the Queensland Brain Institute in 2013. In 2018, I was awarded an NHMRC Early Career Researcher Fellowship to investigate the relationship between cardiovascular and brain-related disorders using large-scale genetic and genomic data, under the mentorship of Prof Naomi Wray. I currently hold a National Heart Foundation Future Leader Fellowship.
I am the recipient of:
2020 Genetic Society of Australasia Early Career Award
2020 Women in Technology Rising Star Science Award
2021/2022 Australian Superstar of STEM,
2022 UQ Foundation Research Excellence Award
2022 Queensland Young Tall Poppy Award
Advancing knowledge in cardiovascular disease
Familial Hypercholesterolemia (FH) is a preventable cause of premature disease and death and is relatively common in the general population (~ 1 in 250). FH is considered a monogenic disease, though a monogenic mutation is only identified in ~30% of FH patients. This paradigm-shifting research on FH demonstrated a polygenic contribution to FH (Talmud P et al Lancet 2013;381:1293-301; FWCI 34.8), as a result of which the UK NICE guidelines on FH management were updated, and several UK Diagnostic Laboratories have implemented an additional polygenic test in FH patients, with reports of positive psychosocial impact on patients (Futema et al 2021, Journal of Lipid Research 62:100139). This research is cited in a patent (WO2014181107A1 - Genetic Method of Aiding The Diagnosis and Treatment of Familial Hypercholesterolemia). It has been used to develop a new disease category, termed ‘Polygenic Hypercholesterolemia’, https://www.heartuk.org.uk/genetic-conditions/polygenic-hypercholesterolaemia), cited in the NHS Chief Medical Officer 2016 annual report focused on how genomics can improve health.
I was part of the executive committee for the largest international heart failure consortium (HERMES https://www.hermesconsortium.org/) and co-led the largest (published) genome-wide association study on heart failure (Shah S et al Nat Commun 2020;11:296; FWCI 15.3) at the time, identifying novel disease biology. Our heart failure study has been cited >280 times in 3 years since publication, and has led to new avenues for drug development (e.g. Schmidt AF et al Nat Commun 2020:11:3255).
Demonstrating potential clinical application of genomic data
We demonstrated for the first time that genome-wide DNA methylation data may be useful for predicting human phenotypes over and above genetic data (Shah S et al Am J Hum Genet 2015;97:1; FWCI 2.8), as well as future health outcomes including mortality and (Marioni R et al Genome Biology 2015;16:25; FWCI 27.4). This research has been cited in 3 patents (e.g. WO-2018150042- A1 - DNA methylation signatures for determining a survival probability, which is using the findings to develop tests for clinical use), in two books (Handbook of Epigenetics (3rd Edition) and Aging: From Fundamental Biology to Societal Impact), highlighted in the online media site “The Conversation” and cited in the Wikipedia page on ‘Epigenetic Clock’.
Journal Article: Investigating the potential anti-depressive mechanisms of statins: a transcriptomic and Mendelian randomization analysis
Jiang, Jiayue-Clara, Hu, Chenwen, McIntosh, Andrew M. and Shah, Sonia (2023). Investigating the potential anti-depressive mechanisms of statins: a transcriptomic and Mendelian randomization analysis. Translational Psychiatry, 13 (1) 110. doi: 10.1038/s41398-023-02403-8
Journal Article: Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease
Cadby, Gemma, Giles, Corey, Melton, Phillip E., Huynh, Kevin, Mellett, Natalie A., Duong, Thy, Nguyen, Anh, Cinel, Michelle, Smith, Alex, Olshansky, Gavriel, Wang, Tingting, Brozynska, Marta, Inouye, Mike, McCarthy, Nina S., Ariff, Amir, Hung, Joseph, Hui, Jennie, Beilby, John, Dubé, Marie-Pierre, Watts, Gerald F., Shah, Sonia, Wray, Naomi R., Lim, Wei Ling Florence, Chatterjee, Pratishtha, Martins, Ian, Laws, Simon M., Porter, Tenielle, Vacher, Michael, Bush, Ashley I. ... Moses, Eric K. (2022). Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease. Nature Communications, 13 (1) 3124, 1-17. doi: 10.1038/s41467-022-30875-7
Journal Article: The genomics of heart failure: design and rationale of the HERMES consortium
Lumbers, R. Thomas, Shah, Sonia, Lin, Honghuang, Czuba, Tomasz, Henry, Albert, Swerdlow, Daniel I., Mälarstig, Anders, Andersson, Charlotte, Verweij, Niek, Holmes, Michael V., Ärnlöv, Johan, Svensson, Per, Hemingway, Harry, Sallah, Neneh, Almgren, Peter, Aragam, Krishna G., Asselin, Geraldine, Backman, Joshua D., Biggs, Mary L., Bloom, Heather L., Boersma, Eric, Brandimarto, Jeffrey, Brown, Michael R., Brunner‐La Rocca, Hans‐Peter, Carey, David J., Chaffin, Mark D., Chasman, Daniel I., Chazara, Olympe, Chen, Xing ... Regeneron Genetics Center (2021). The genomics of heart failure: design and rationale of the HERMES consortium. ESC Heart Failure, 8 (6) ehf2.13517, 5531-5541. doi: 10.1002/ehf2.13517
DEVELOPING UQ's FIRST HIGH-THROUGHPUT GENOMICS PIPELINE FOR DRUG DISCOVERY
(2023) UQ Foundation Research Excellence Awards
(2022–2027) University of New South Wales
TRIAGE: A disease agnostic computational and modelling platform to accelerate variant classification
(2022–2026) NHMRC MRFF Genomics Health Futures Mission
Using Transcriptomics technologies in health-related research: Applications and Challenges
Doctor Philosophy
Using genomics to predict the mechanism-of-action of a chemical entity
Doctor Philosophy
Using statistical genomics analyses to improve our understanding of heart failure
Doctor Philosophy
Jiang, Jiayue-Clara, Hu, Chenwen, McIntosh, Andrew M. and Shah, Sonia (2023). Investigating the potential anti-depressive mechanisms of statins: a transcriptomic and Mendelian randomization analysis. Translational Psychiatry, 13 (1) 110. doi: 10.1038/s41398-023-02403-8
Cadby, Gemma, Giles, Corey, Melton, Phillip E., Huynh, Kevin, Mellett, Natalie A., Duong, Thy, Nguyen, Anh, Cinel, Michelle, Smith, Alex, Olshansky, Gavriel, Wang, Tingting, Brozynska, Marta, Inouye, Mike, McCarthy, Nina S., Ariff, Amir, Hung, Joseph, Hui, Jennie, Beilby, John, Dubé, Marie-Pierre, Watts, Gerald F., Shah, Sonia, Wray, Naomi R., Lim, Wei Ling Florence, Chatterjee, Pratishtha, Martins, Ian, Laws, Simon M., Porter, Tenielle, Vacher, Michael, Bush, Ashley I. ... Moses, Eric K. (2022). Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease. Nature Communications, 13 (1) 3124, 1-17. doi: 10.1038/s41467-022-30875-7
The genomics of heart failure: design and rationale of the HERMES consortium
Lumbers, R. Thomas, Shah, Sonia, Lin, Honghuang, Czuba, Tomasz, Henry, Albert, Swerdlow, Daniel I., Mälarstig, Anders, Andersson, Charlotte, Verweij, Niek, Holmes, Michael V., Ärnlöv, Johan, Svensson, Per, Hemingway, Harry, Sallah, Neneh, Almgren, Peter, Aragam, Krishna G., Asselin, Geraldine, Backman, Joshua D., Biggs, Mary L., Bloom, Heather L., Boersma, Eric, Brandimarto, Jeffrey, Brown, Michael R., Brunner‐La Rocca, Hans‐Peter, Carey, David J., Chaffin, Mark D., Chasman, Daniel I., Chazara, Olympe, Chen, Xing ... Regeneron Genetics Center (2021). The genomics of heart failure: design and rationale of the HERMES consortium. ESC Heart Failure, 8 (6) ehf2.13517, 5531-5541. doi: 10.1002/ehf2.13517
Chauquet, Solal, Zhu, Zhihong, O'Donovan, Michael C., Walters, James T. R., Wray, Naomi R. and Shah, Sonia (2021). Association of antihypertensive drug target genes with psychiatric disorders: a Mendelian randomization study. JAMA Psychiatry, 78 (6), 623-631. doi: 10.1001/jamapsychiatry.2021.0005
A genetic model of ivabradine recapitulates results from randomized clinical trials
Legault, Marc-André, Sandoval, Johanna, Provost, Sylvie, Barhdadi, Amina, Lemieux Perreault, Louis-Philippe, Shah, Sonia, Lumbers, R. Thomas, de Denus, Simon, Tyl, Benoit, Tardif, Jean-Claude and Dubé, Marie-Pierre (2020). A genetic model of ivabradine recapitulates results from randomized clinical trials. PLOS ONE, 15 (7) e0236193, e0236193. doi: 10.1371/journal.pone.0236193
Shah, Sonia, Henry, Albert, Roselli, Carolina, Lin, Honghuang, Sveinbjörnsson, Garðar, Fatemifar, Ghazaleh, Hedman, Åsa K., Wilk, Jemma B., Morley, Michael P., Chaffin, Mark D., Helgadottir, Anna, Verweij, Niek, Dehghan, Abbas, Almgren, Peter, Andersson, Charlotte, Aragam, Krishna G., Ärnlöv, Johan, Backman, Joshua D., Biggs, Mary L., Bloom, Heather L., Brandimarto, Jeffrey, Brown, Michael R., Buckbinder, Leonard, Carey, David J., Chasman, Daniel I., Chen, Xing, Chen, Xu, Chung, Jonathan, Chutkow, William ... Lumbers, R. Thomas (2020). Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure. Nature Communications, 11 (1) 163, 163. doi: 10.1038/s41467-019-13690-5
Identification of 55,000 replicated DNA methylation QTL
McRae, Allan F., Marioni, Riccardo E., Shah, Sonia, Yang, Jian, Powell, Joseph E., Harris, Sarah E., Gibson, Jude, Henders, Anjali K., Bowdler, Lisa, Painter, Jodie N., Murphy, Lee, Martin, Nicholas G., Starr, John M., Wray, Naomi R., Deary, Ian J., Visscher, Peter M. and Montgomery, Grant W. (2018). Identification of 55,000 replicated DNA methylation QTL. Scientific Reports, 8 (1) 17605, 17605. doi: 10.1038/s41598-018-35871-w
Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu ... Fan, Dongsheng (2017). Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nature Communications, 8 (1) 611, 611. doi: 10.1038/s41467-017-00471-1
Ballantyne, Christie M., Shah, Sukrut, Sapre, Aditi, Ashraf, Tanya B., Tobias, Sandra C., Sahin, Tayfun, Ye, Ping, Dong, Yugang, Sheu, Wayne Huey-Heng, Kang, Duk-Hyun, Ferreira Rossi, Paulo Roberto, Moiseeva, Yulia, Briones, Ignacio Rodriguez, Johnson-Levonas, Amy O. and Mitchel, Yale B. (2017). A multiregional, randomized evaluation of the lipid-modifying efficacy and tolerability of anacetrapib added to ongoing statin therapy in patients with hypercholesterolemia or low high-density lipoprotein cholesterol. American Journal of Cardiology, 120 (4), 569-576. doi: 10.1016/j.amjcard.2017.03.255
Garton, Fleur C., Benyamin, Beben, Zhao, Qiongyi, Liu, Zhijun, Gratten, Jacob, Henders, Anjali K., Zhang, Zong-Hong, Edson, Janette, Furlong, Sarah, Morgan, Sarah, Heggie, Susan, Thorpe, Kathryn, Pfluger, Casey, Mather, Karen A., Sachdev, Perminder S., McRae, Allan F., Robinson, Matthew R., Shah, Sonia, Visscher, Peter M., Mangelsdorf, Marie, Henderson, Robert D., Wray, Naomi R. and McCombe, Pamela A. (2017). Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. Molecular Genetics and Genomic Medicine, 5 (4), 418-428. doi: 10.1002/mgg3.302
A genomic atlas of human adrenal and gonad development
Del Valle, Ignacio, Buonocore, Federica, Duncan, Andrew J., Lin, Lin, Barenco, Martino, Parnaik, Rahul, Shah, Sonia, Hubank, Mike, Gerrelli, Dianne and Achermann, John C. (2017). A genomic atlas of human adrenal and gonad development. Wellcome Open Research, 2 25, 1-42. doi: 10.12688/wellcomeopenres.11253.2
Hedman, Åsa K., Mendelson, Michael M., Marioni, Riccardo E., Gustafsson, Stefan, Joehanes, Roby, Irvin, Marguerite R., Zhi, Degui, Sandling, Johanna K., Yao, Chen, Liu, Chunyu, Liang, Liming, Huan, Tianxiao, McRae, Allan F., Demissie, Serkalem, Shah, Sonia, Starr, John M., Cupples, L. Adrienne, Deloukas, Panos, Spector, Timothy D., Sundstrom, Johan, Krauss, Ronald M., Arnett, Donna K., Deary, Ian J., Lind, Lars, Levy, Daniel and Ingelsson, Erik (2017). Epigenetic patterns in blood associated with lipid traits predict incident coronary heart disease events and are enriched for results from genome-wide association studies. Circulation: Cardiovascular Genetics, 10 (1) 001487. doi: 10.1161/CIRCGENETICS.116.001487
Prasher, Bhavana, Varma, Binuja, Kumar, Arvind, Khuntia, Bharat Krushna, Pandey, Rajesh, Narang, Ankita, Tiwari, Pradeep, Kutum, Rintu, Guin, Debleena, Kukreti, Ritushree, Dash, Debasis, Mukerji, Mitali, Aggarwal, S., Natarajan, V., Salvi, S., Aatreya, P., Unni, S., Mishra, N., Mudgal, N., Dutta, P. B., Rani, R., Choudhury, S., Gupta, V., Sahni, S., Ghirase, B., Prasad, B. S., Harti, S., Vedantam, G., Mulla, A. ... Makhija, N. (2017). Ayurgenomics for stratified medicine: TRISUTRA consortium initiative across ethnically and geographically diverse Indian populations. Journal of Ethnopharmacology, 197, 274-293. doi: 10.1016/j.jep.2016.07.063
Ballantyne, Christie M., Shah, Sukrut, Kher, Uma, Hunter, John A., Gill, Geraldine G., Cressman, Michael D., Ashraf, Tanya B., Johnson-Levonas, Amy O. and Mitchel, Yale B. (2017). Lipid-modifying efficacy and tolerability of anacetrapib added to ongoing statin therapy in patients with hypercholesterolemia or low high-density lipoprotein cholesterol. American Journal of Cardiology, 119 (3), 388-396. doi: 10.1016/j.amjcard.2016.10.032
Mendelson, Michael M., Marioni, Riccardo E., Joehanes, Roby, Liu, Chunyu, Hedman, Åsa K., Aslibekyan, Stella, Demerath, Ellen W., Guan, Weihua, Zhi, Degui, Yao, Chen, Huan, Tianxiao, Willinger, Christine, Chen, Brian, Courchesne, Paul, Multhaup, Michael, Irvin, Marguerite R., Cohain, Ariella, Schadt, Eric E., Grove, Megan L., Bressler, Jan, North, Kari, Sundstrom, Johan, Gustafsson, Stefan, Shah, Sonia, McRae, Allan F., Harris, Sarah E., Gibson, Jude, Redmond, Paul, Corley, Janie ... Deary, Ian J. (2017). Association of body mass index with DNA methylation and gene expression in blood cells and relations to cardiometabolic disease: a Mendelian randomization approach. PLoS Medicine, 14 (1) e1002215, e1002215. doi: 10.1371/journal.pmed.1002215
DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases
Ligthart, Symen, Marzi, Carola, Aslibekyan, Stella, Mendelson, Michael M., Conneely, Karen N., Tanaka, Toshiko, Colicino, Elena, Waite, Lindsay L., Joehanes, Roby, Guan, Weihua, Brody, Jennifer A., Elks, Cathy, Marioni, Riccardo, Jhun, Min A., Agha, Golareh, Bressler, Jan, Ward-Caviness, Cavin K., Chen, Brian H., Huan, Tianxiao, Bakulski, Kelly, Salfati, Elias L., Fiorito, Giovanni, Wahl, Simone, Schramm, Katharina, Sha, Jin, Hernandez, Dena G., Just, Allan C., Smith, Jennifer A., Sotoodehnia, Nona ... Dehghan, Abbas (2016). DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases. Genome Biology, 17 (1) 255, 255-255. doi: 10.1186/s13059-016-1119-5
A DNA methylation biomarker of alcohol consumption
Liu, C., Marioni, R. E., Hedman, K., Pfeiffer, L., Tsai, P. -C., Reynolds, L. M., Just, A. C., Duan, Q., Boer, C. G., Tanaka, T., Elks, C. E., Aslibekyan, S., Brody, J. A., Kuhnel, B., Herder, C., Almli, L. M., Zhi, D., Wang, Y., Huan, T., Yao, C., Mendelson, M. M., Joehanes, R., Liang, L., Love, S. -A., Guan, W., Shah, S., McRae, A. F., Kretschmer, A., Prokisch, H. ... Levy, D. (2016). A DNA methylation biomarker of alcohol consumption. Molecular Psychiatry, 23 (2), 422-433. doi: 10.1038/mp.2016.192
Epigenetic signatures of cigarette smoking
Joehanes, Roby, Just, Allan C., Marioni, Riccardo E., Pilling, Luke C., Reynolds, Lindsay M., Mandaviya, Pooja R., Guan, Weihua, Xu, Tao, Elks, Cathy E., Aslibekyan, Stella, Moreno-Macias, Hortensia, Smith, Jennifer A., Brody, Jennifer A., Dhingra, Radhika, Yousefi, Paul, Pankow, James S., Kunze, Sonja, Shah, Sonia H., McRae, Allan F., Lohman, Kurt, Sha, Jin, Absher, Devin M., Ferrucci, Luigi, Zhao, Wei, Demerath, Ellen W., Bressler, Jan, Grove, Megan L., Huan, Tianxiao, Liu, Chunyu ... London, Stephanie J. (2016). Epigenetic signatures of cigarette smoking. Circulation: Cardiovascular Genetics, 9 (5), 436-447. doi: 10.1161/CIRCGENETICS.116.001506
Selecting instruments for Mendelian randomization in the wake of genome-wide association studies
Swerdlow, Daniel I., Kuchenbaecker, Karoline B., Shah, Sonia, Sofat, Reecha, Holmes, Michael V., White, Jon, Mindell, Jennifer S., Kivimaki, Mika, Brunner, Eric J., Whittaker, John C., Casas, Juan P. and Hingorani, Aroon D. (2016). Selecting instruments for Mendelian randomization in the wake of genome-wide association studies. International Journal of Epidemiology, 45 (5), 1600-1616. doi: 10.1093/ije/dyw088
Ehret, G.B., Ferreira, T., Chasman, D.I., Jackson, A.U., Schmidt, E.M., Johnson, T., Thorleifsson, G., Luan, J., Donnelly, L.A., Kanoni, S., Petersen, A.-K., Pihur, V., Strawbridge, R.J., Shungin, D., Hughes, M.F., Meirelles, O., Kaakinen, M., Bouatia-Naji, N., Kristiansson, K., Shah, S., Kleber, M.E., Guo, X., Lyytikainen, L.-P., Fava, C., Eriksson, N., Nolte, I.M., Magnusson, P.K., Salfati, E.L., Rallidis, L.S. ... Munroe, P.B. (2016). The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nature Genetics, 48 (10), 1171-1184. doi: 10.1038/ng.3667
McLachlan, Stela, Giambartolomei, Claudia, White, Jon, Charoen, Pimphen, Wong, Andrew, Finan, Chris, Engmann, Jorgen, Shah, Tina, Hersch, Micha, Podmore, Clara, Cavadino, Alana, Jefferis, Barbara J., Dale, Caroline E., Hypponen, Elina, Morris, Richard W., Casas, Juan P., Kumari, Meena, Ben-Shlomo, Yoav, Gaunt, Tom R., Drenos, Fotios, Langenberg, Claudia, Kuh, Diana, Kivimaki, Mika, Rueedi, Rico, Waeber, Gerard, Hingorani, Aroon D., Price, Jacqueline F., Walker, Ann P., Cooper, Jackie ... Zabaneh, Delilah (2016). Replication and characterization of association between ABO SNPs and red blood cell traits by meta-analysis in Europeans. PLoS ONE, 11 (6) e0156914, e0156914. doi: 10.1371/journal.pone.0156914
Thorne, Natasha, Malik, Nasir, Shah, Sonia, Zhao, Jean, Class, Bradley, Aguisanda, Francis, Southall, Noel, Xia, Menghang, McKew, John C., Rao, Mahendra and Zheng, Wei (2016). High-throughput phenotypic screening of human astrocytes to identify compounds that protect against oxidative stress. Stem Cells Translational Medicine, 5 (5), 613-627. doi: 10.5966/sctm.2015-0170
Marioni, Riccardo E., Harris, Sarah E., Shah, Sonia, McRae, Allan F., von Zglinicki, Thomas, Martin-Ruiz, Carmen, Wray, Naomi R., Visscher, Peter M. and Deary, Ian J. (2016). Corrigendum: The epigenetic clock and telomere length are independently associated with chronological age and mortality [Int J Epidemiol., 45, 2, (424-432)(2016)] DOI: 10.1093/ije/dyw041. International Journal of Epidemiology, 47 (1) dyx217, 356-356. doi: 10.1093/ije/dyx233
Marioni, Riccardo E., Harris, Sarah E., Shah, Sonia, McRae, Allan F., von Zglinicki, Thomas, Martin-Ruiz, Carmen, Wray, Naomi R., Visscher, Peter M. and Deary, Ian J. (2016). The epigenetic clock and telomere length are independently associated with chronological age and mortality. International Journal of Epidemiology, 45 (2), 424-432. doi: 10.1093/ije/dyw041
Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis
White, Jon, Sofat, Reecho, Hemani, Gibran, Shah, Tina, Engmann, Jorgen, Dale, Caroline, Shah, Sonia, Kruger, Felix A., Giambartolomei, Claudio, Swerdlow, Daniel I., Palmer, Tom, McLachlan, Stela, Langenberg, Claudia, Zabaneh, Delilah, Lovering, Ruth, Cavadino, Alana, Jefferis, Barbara, Finan, Chris, Wong, Andrew, Amuzu, Antoinette, Ong, Ken, Gaunt, Tom R., Warren, Helen, Davies, Teri-Louise, Drenos, Fotios, Cooper, Jackie, Ebrahim, Shah, Lawlor, Debbie A., Talmud, Philippa J. ... Hingorani, Aroon D. (2016). Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis. The Lancet Diabetes and Endocrinology, 4 (4), 327-336. doi: 10.1016/S2213-8587(15)00386-1
DNA methylation-based measures of biological age: meta-analysis predicting time to death
Chen, Brian H., Marioni, Riccardo E., Colicino, Elena, Peters, Marjolein J., Ward-Caviness, Cavin K., Tsai, Pei-Chien, Roetker, Nicholas S., Just, Allan C., Demerath, Ellen W., Guan, Weihua, Bressler, Jan, Fornage, Myriam, Studenski, Stephanie, Vandiver, Amy R., Moore, Ann Zenobia, Tanaka, Toshiko, Kiel, Douglas P., Liang, Liming, Vokonas, Pantel, Schwartz, Joel, Lunetta, Kathryn L., Murabito, Joanne M., Bandinelli, Stefania, Hernandez, Dena G., Melzer, David, Nalls, Michael, Pilling, Luke C., Price, Timothy R., Singleton, Andrew B. ... Horvath, Steve (2016). DNA methylation-based measures of biological age: meta-analysis predicting time to death. Aging, 8 (9), 1844-1865. doi: 10.18632/aging.101020
Bui, Masato, Benyamin, Beben, Shah, Sonia, Henders, Anjali K., Martin, Nicholas G., Montgomery, Grant W. and McRae, Allan F. (2015). Sharing a placenta is associated with a greater similarity in DNA methylation in monochorionic versus dichorionic twin pars in blood at age 14. Twin Research and Human Genetics, 18 (6), 680-685. doi: 10.1017/thg.2015.87
Persson, Jonas, Strawbridge, Rona J., McLeod, Olga, Gertow, Karl, Silveira, Angela, Baldassarre, Damiano, Van Zuydam, Natalie, Shah, Sonia, Fava, Cristiano, Gustafsson, Stefan, Veglia, Fabrizio, Sennblad, Bengt, Larsson, Malin, Sabater-Lleal, Maria, Leander, Karin, Gigante, Bruna, Tabak, Adam, Kivimaki, Mika, Kauhanen, Jussi, Rauramaa, Rainer, Smit, Andries J., Mannarino, Elmo, Giral, Philippe, Humphries, Steve E., Tremoli, Elena, de Faire, Ulf, Lind, Lars, Ingelsson, Erik, Hedblad, Bo ... Soderberg, Stefan (2015). Sex-Specific Effects of Adiponectin on Carotid Intima-Media Thickness and Incident Cardiovascular Disease. Journal of the American Heart Association, 4 (8), 1-13. doi: 10.1161/JAHA.115.001853
Marioni, Riccardo E., Shah, Sonia, McRae, Allan F., Ritchie, Stuart J., Muniz-Terrera, Graciela, Harris, Sarah E., Gibson, Jude, Redmond, Paul, Cox, Simon R., Pattie, Alison, Corley, Janie, Taylor, Adele, Murphy, Lee, Starr, John M., Horvath, Steve, Visscher, Peter M., Wray, Naomi R. and Deary, Ian J. (2015). The epigenetic clock is correlated with physical and cognitive fitness in the Lothian Birth Cohort 1936. International Journal of Epidemiology, 44 (4), 1388-1396. doi: 10.1093/ije/dyu277
Improving phenotypic prediction by combining genetic and epigenetic associations
Shah, Sonia, Bonder, Marc J., Marioni, Riccardo E., Zhu, Zhihong, McRae, Allan F., Zhernakova, Alexandra, Harris, Sarah E., Liewald, Dave, Henders, Anjali K., Mendelson, Michael M., Liu, Chunyu, Joehanes, Roby, Liang, Liming, Levy, Daniel, Martin, Nicholas G., Starr, John M., Wijmenga, Cisca, Wray, Naomi R., Yang, Jian, Montgomery, Grant W., Franke, Luke, Deary, Ian J., Visscher, Peter M. and BIOS Consortium (2015). Improving phenotypic prediction by combining genetic and epigenetic associations. American Journal of Human Genetics, 97 (1), 75-85. doi: 10.1016/j.ajhg.2015.05.014
C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis
He, Ji, Tang, Lu, Benyamin, Beben, Shah, Sonia, Hemani, Gib, Liu, Rong, Ye, Shan, Liu, Xiaolu, Ma, Yan, Zhang, Huagang, Cremin, Katie, Leo, Paul, Wray, Naomi R., Visscher, Peter M., Xu, Huji, Brown, Matthew A., Bartlett, Perry F., Mangelsdorf, Marie and Fan, Dongsheng (2015). C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis. Neurobiology of Aging, 36 (9), 2660.e1-2660.e8. doi: 10.1016/j.neurobiolaging.2015.06.002
Mendelian randomization of blood lipids for coronary heart disease
Holmes, Michael V., Asselbergs, Folkert W., Palmer, Tom M., Drenos, Fotios, Lanktree, Matthew B., Nelson, Christopher P., Dale, Caroline E., Padmanabhan, Sandosh, Finan, Chris, Swerdlow, Daniel I., Tragante, Vinicius, van Iperen, Erik P. A., Sivapalaratnam, Suthesh, Shah, Sonia, Elbers, Clara C., Shah, Tina, Engmann, Jorgen, Giambartolomei, Claudia, White, Jon, Zabaneh, Delilah, Sofat, Reecha, McLachlan, Stela, Doevendans, Pieter A., Balmforth, Anthony J., Hall, Alistair S., North, Kari E., Almoguera, Berta, Hoogeveen, Ron C., Cushman, Mary ... Casas, Juan P. (2015). Mendelian randomization of blood lipids for coronary heart disease. European Heart Journal, 36 (9), 539-550. doi: 10.1093/eurheartj/eht571
Genetic studies of body mass index yield new insights for obesity biology
Locke, Adam E., Kahali, Bratati, Berndt, Sonja I., Justice, Anne E., Pers, Tune H., Day, Felix R., Powell, Corey, Vedantam, Sailaja, Buchkovich, Martin L., Yang, Jian, Croteau-Chonka, Damien C., Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gustafsson, Stefan, Kutalik, Zoltán, Luan, Jian'an, Mägi, Reedik, Randall, Joshua C., Winkler, Thomas W., Wood, Andrew R., Workalemahu, Tsegaselassie, Faul, Jessica D., Smith, Jennifer A., Zhao, Jing Hua, Zhao, Wei, Chen, Jin, Fehrmann, Rudolf, Hedman, Asa K. ... Shah, Sonia (2015). Genetic studies of body mass index yield new insights for obesity biology. Nature, 518 (7538), 197-206. doi: 10.1038/nature14177
New genetic loci link adipose and insulin biology to body fat distribution
Shungin, Dmitry, Winkler, Thomas W, Croteau-Chonka, Damien C, Ferreira, Teresa, Locke, Adam E, Magi, Reedik, Strawbridge, Rona J, Pers, Tune H, Fischer, Krista, Justice, Anne E, Workalemahu, Tsegaselassie, Wu, Joseph M.W, Buchkovich, Martin L, Heard-Costa, Nancy L, Roman, Tamara S, Drong, Alexander W, Song, Ci, Gustafsson, Stefan, Day, Felix R, Esko, Tonu, Fall, Tove, Kutalik, Zoltan, Luan, Jian'an, Randall, Joshua C, Scherag, Andre, Vedantam, Sailaja, Wood, Andrew R, Chen, Jin, Fehrmann, Rudolf ... Shah, Sonia (2015). New genetic loci link adipose and insulin biology to body fat distribution. Nature, 518 (7538), 187-196. doi: 10.1038/nature14132
DNA methylation age of blood predicts all-cause mortality in later life
Marioni, Riccardo E., Shah, Sonia, McRae, Allan F., Chen, Brian H., Colicino, Elena, Harris, Sarah E., Gibson, Jude, Henders, Anjali K., Redmond, Paul, Cox, Simon R., Pattie, Alison, Corley, Janie, Murphy, Lee, Martin, Nicholas G., Montgomery, Grant W., Feinberg, Andrew P., Fallin, M. Daniele, Multhaup, Michael L., Jaffe, Andrew E., Joehanes, Roby, Schwartz, Joel, Just, Allan C., Lunetta, Kathryn L., Murabito, Joanne M., Starr, John M., Horvath, Steve, Baccarelli, Andrea A., Levy, Daniel, Visscher, Peter M. ... Deary, Ian J. (2015). DNA methylation age of blood predicts all-cause mortality in later life. Genome Biology, 16 (1) 25, 25.1-25.12. doi: 10.1186/s13059-015-0584-6
Brinton, Eliot A., Kher, Uma, Shah, Sukrut, Cannon, Christopher P., Davidson, Michael, Gotto, Antonio M., Ashraf, Tanya B., Sisk, Christine McCrary, Dansky, Hayes, Mitchel, Yale, Barter, Philip and DEFINE Investigators (2015). Effects of anacetrapib on plasma lipids in specific patient subgroups in the DEFINE (Determining the efficacy and tolerability of CETP INhibition with AnacEtrapib) trial. Journal of Clinical Lipidology, 9 (1), 65-71. doi: 10.1016/j.jacl.2014.10.005
Herder, Christian, Nuotio, Marja-Liisa, Shah, Sonia, Blankenberg, Stefan, Brunner, Eric J., Carstensen, Maren, Gieger, Christian, Grallert, Harald, Jula, Antti, Kahonen, Mika, Kettunen, Johannes, Kivimaki, Mika, Koenig, Wolfgang, Kristiansson, Kati, Langenberg, Claudia, Lehtimaki, Terho, Luotola, Kari, Marzi, Carola, Mueller, Christian, Peters, Annette, Prokisch, Holger, Raitakari, Olli, Rathmann, Wolfgang, Roden, Michael, Salmi, Marko, Schramm, Katharina, Swerdlow, Daniel, Tabak, Adam G., Thorand, Barbara ... Salomaa, Veikko (2014). Genetic determinants of circulating interleukin-1 receptor antagonist levels and their association with glycemic traits. Diabetes, 63 (12), 4343-4359. doi: 10.2337/db14-0731
Futema, Marta, Shah, Sonia, Cooper, Jackie A., Li, KahWa, Whittall, Ros A., Sharifi, Mahtab, Goldberg, Olivia, Drogari, Euridiki, Mollaki, Vasilik, Wiegman, Albert, Defesche, Joep, D'Agostino, Maria N., D'Angelo, Antonietta, Rubba, Paolo, Fortunato, Giuliana, Walus-Miarka, Malgorzata, Hegele, Robert A., Aderayo Bamimore, Mary, Durst, Ronen, Leitersdorf, Eran, Mulder, Monique T., Roeters van Lennep, Jeanine E., Sijbrands, Eric J., Whittaker, John C., Talmud, Philippa J. and Humphries, Steve E. (2014). Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries. Clinical Chemistry, 61 (1), 231-238. doi: 10.1373/clinchem.2014.231365
Genetic and environmental exposures constrain epigenetic drift over the human life course
Shah, Sonia, McRae, Allan F., Marioni, Riccardo E., Harris, Sarah E., Gibson, Jude, Henders, Anjali K., Redmond, Paul, Cox, Simon R., Pattie, Alison, Corley, Janie, Murphy, Lee, Martin, Nicholas G., Montgomery, Grant W., Starr, John M., Wray, Naomi R., Deary, Ian J. and Visscher, Peter M. (2014). Genetic and environmental exposures constrain epigenetic drift over the human life course. Genome Research, 24 (11), 1725-1733. doi: 10.1101/gr.176933.114
Gigante, Bruna, Leander, Karin, Vikström, Max, Baldassarre, Damiano, Veglia, Fabrizio, Strawbridge, Rona J., McLeod, Olga, Gertow, Karl, Sennblad, Bengt, Shah, Sonia, Zabaneh, Delilah, Humphries, Steve E., Kauhanen, Jussi, Rauramaa, Rainer, Smit, Andries J., Mannarino, Elmo, Giral, Philippe, Tremoli, Elena, Hamsten, Anders, Frostegård, Johan and de Faire, Ulf (2014). Low levels of IgM antibodies against phosphorylcholine are associated with fast carotid intima media thickness progression and cardiovascular risk in men. Atherosclerosis, 236 (2), 394-399. doi: 10.1016/j.atherosclerosis.2014.07.030
Holmes, Michael V., Dale, Caroline E., Zuccolo, Luisa, Silverwood, Richard J., Guo, Yiran, Ye, Zheng, Prieto-Merino, David, Dehghan, Abbas, Trompet, Stella, Wong, Andrew, Cavadino, Alana, Drogan, Dagmar, Padmanabhan, Sandosh, Li, Shanshan, Yesupriya, Ajay, Leusink, Maarten, Sundstrom, Johan, Hubacek, Jaroslav A., Pikhart, Hynek, Swerdlow, Daniel I., Panayiotou, Andrie G., Borinskaya, Svetlana A., Finan, Chris, Shah, Sonia, Kuchenbaecker, Karoline B., Shah, Tina, Engmann, Jorgen, Folkersen, Lasse, Eriksson, Per ... Casas, Juan P. (2014). Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data. BMJ - British Medical Journal, 349 (jul10 6) g4164, g4164-g4164. doi: 10.1136/bmj.g4164
Contribution of genetic variation to transgenerational inheritance of DNA methylation
McRae, Allan F., Powell, Joseph E., Henders, Anjali K., Bowdler, Lisa, Hemani, Gibran, Shah, Sonia, Painter, Jodie N., Martin, Nicholas G., Visscher, Peter M. and Montgomery, Grant W. (2014). Contribution of genetic variation to transgenerational inheritance of DNA methylation. Genome Biology, 15 (5), 1-10. doi: 10.1186/gb-2014-15-5-r73
Malik, Nasir, Wang, Xiantao, Shah, Sonia, Efthymiou, Anastasia G., Yan, Bin, Heman-Ackah, Sabrina, Zhan, Ming and Rao, Mahendra (2014). Comparison of the gene expression profiles of human fetal cortical astrocytes with pluripotent stem cell derived neural stem cells identifies human astrocyte markers and signaling pathways and transcription factors active in human astrocytes. PLoS ONE, 9 (5) e96139. doi: 10.1371/journal.pone.0096139
Gotto, Antonio M., Kher, Uma, Chatterjee, Manash Shankar, Liu, Yang, Li, Xiujiang Susie, Vaidya, Sanskruti, Cannon, Christopher P., Brinton, Eliot A., Moon, Jennifer E., Shah, Sukrut, Dansky, Hayes M., Mitchel, Yale and Barter, Philip (2014). Lipids, safety parameters, and drug concentrations after an additional 2 years of treatment with Anacetrapib in the DEFINE study. Journal of Cardiovascular Pharmacology and Therapeutics, 19 (6), 543-549. doi: 10.1177/1074248414529621
Tragante, Vinicius, Barnes, Michael R., Ganesh, Santhi K., Lanktree, Matthew B., Guo, Wei, Franceschini, Nora, Smith, Erin N., Johnson, Toby, Holmes, Michael V., Padmanabhan, Sandosh, Karczewski, Konrad J., Almoguera, Berta, Barnard, John, Baumert, Jens, Chang, Yen-Pei Christy, Elbers, Clara C., Farrall, Martin, Fischer, Mary E., Gaunt, Tom R., Gho, Johannes M. I. H., Gieger, Christian, Goel, Anuj, Gong, Yan, Isaacs, Aaron, Kleber, Marcus E., Leach, Irene Mateo, McDonough, Caitrin W., Meijs, Matthijs F. L., Melander, Olle ... Keating, Brendan J. (2014). Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. American Journal of Human Genetics, 94 (3), 349-360. doi: 10.1016/j.ajhg.2013.12.016
DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, South Asian Type 2 Diabetes (SAT2D) Consortium, Mexican American Type 2 Diabetes (MAT2D) Consortium, Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) Consortium, Shah, Sonia and Yengo, Loic (2014). Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nature Genetics, 46 (3), 234-246. doi: 10.1038/ng.2897
Gotto Jr., Antonio M., Cannon, Christopher P., Li, Xiujiang Susie, Vaidya, Sanskruti, Kher, Uma, Brinton, Eliot A., Davidson, Michael, Moon, Jennifer E., Shah, Sukrut, Dansky, Hayes M., Mitchel, Yale and Barter, Philip (2014). Evaluation of lipids, drug concentration, and safety parameters following cessation of treatment with the cholesteryl ester transfer protein inhibitor anacetrapib in patients with or at high risk for coronary heart disease. American Journal of Cardiology, 113 (1), 76-83. doi: 10.1016/j.amjcard.2013.08.041
Common variants associated with plasma triglycerides and risk for coronary artery disease
Do, Ron, Willer, Cristen J., Schmidt, Ellen M., Sengupta, Sebanti, Gao, Chi, Peloso, Gina M., Gustafsson, Stefan, Kanoni, Stavroula, Ganna, Andrea, Chen, Jin, Buchkovich, Martin L., Mora, Samia, Beckmann, Jacques S., Bragg-Gresham, Jennifer L., Chang, Hsing-Yi, Demirkan, Ayse, Den Hertog, Heleen M., Donnelly, Louise A., Ehret, Georg B., Esko, Tonu, Feitosa, Mary F., Ferreira, Teresa, Fischer, Krista, Fontanillas, Pierre, Fraser, Ross M., Freitag, Daniel F., Gurdasani, Deepti, Heikkila, Kauko, Hyppoenen, Elina ... Kathiresan, Sekar (2013). Common variants associated with plasma triglycerides and risk for coronary artery disease. Nature Genetics, 45 (11), 1345-1352. doi: 10.1038/ng.2795
Discovery and refinement of loci associated with lipid levels
Willer C.J., Schmidt E.M., Sengupta S., Peloso G.M., Gustafsson S., Kanoni S., Ganna A., Chen J., Buchkovich M.L., Mora S., Beckmann J.S., Bragg-Gresham J.L., Chang H.-Y., Demirkan A., Den Hertog H.M., Do R., Donnelly L.A., Ehret G.B., Esko T., Feitosa M.F., Ferreira T., Fischer K., Fontanillas P., Fraser R.M., Freitag D.F., Gurdasani D., Heikkila K., Hypponen E., Isaacs A. ... Abecasis G.R. (2013). Discovery and refinement of loci associated with lipid levels. Nature Genetics, 45 (11), 1274-1285. doi: 10.1038/ng.2797
Gaunt T.R., Zabaneh D., Shah S., Guyatt A., Ladroue C., Kumari M., Drenos F., Shah T., Talmud P.J., Casas J.P., Lowe G., Rumley A., Lawlor D.A., Kivimaki M., Whittaker J., Hingorani A.D., Humphries S.E. and Day I.N. (2013). Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip. Thrombosis and Haemostasis, 110 (5), 995-1003. doi: 10.1160/TH13-02-0087
Shah, Tina, Engmann, Jorgen, Dale, Caroline, Shah, Sonia, White, Jon, Giambartolomei, Claudia, McLachlan, Stela, Zabaneh, Delilah, Cavadino, Alana, Finan, Chris, Wong, Andrew, Amuzu, Antoinette, Ong, Ken, Gaunt, Tom, Holmes, Michael V., Warren, Helen, Davies, Teri-Louise, Drenos, Fotios, Cooper, Jackie, Sofat, Reecha, Caulfield, Mark, Ebrahim, Shah, Lawlor, Debbie A., Talmud, Philippa J., Humphries, Steve E., Power, Christine, Hypponen, Elina, Richards, Marcus, Hardy, Rebecca ... Hingorani, Aroon D. (2013). Population Genomics of Cardiometabolic Traits: Design of the University College London-London School of Hygiene and Tropical Medicine-Edinburgh-Bristol (UCLEB) Consortium. PLoS ONE, 8 (8) e71345, e71345. doi: 10.1371/journal.pone.0071345
Loci influencing blood pressure identified using a cardiovascular gene-centric array
Ganesh, Santhi K., Tragante, Vinicius, Guo, Wei, Guo, Yiran, Lanktree, Matthew B., Smith, Erin N., Johnson, Toby, Castillo, Berta Almoguera, Barnard, John, Baumert, Jens, Chang, Yen-Pei Christy, Elbers, Clara C., Farrall, Martin, Fischer, Mary E., Gaunt, Nora Franceschini, H. Gho, Johannes M.I., Gieger, Christian, Gong, Yan, Isaacs, Aaron, Kleber, Marcus E., Leach, Irene Mateo, McDonough, Caitrin W., Meijs, Matthijs F.L., Mellander, Olle, Molony, Cliona M., Nolte, Ilja M., Price, Sandosh Padmanabhan, Rajagopalan, Ramakrishnan, Shaffer, Jonathan ... Asselbergs, Folkert W. (2013). Loci influencing blood pressure identified using a cardiovascular gene-centric array. Human Molecular Genetics, 22 (16) ddt177, 3394-3395. doi: 10.1093/hmg/ddt177
Shah T., Zabaneh D., Gaunt T., Swerdlow D.I., Shah S., Talmud P.J., Day I.N., Whittaker J., Holmes M.V., Sofat R., Humphries S.E., Kivimaki M., Kumari M., Hingorani A.D. and Casas J.P. (2013). Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers. Circulation: Cardiovascular Genetics, 6 (2), 163-170. doi: 10.1161/CIRCGENETICS.112.964254
Shah S., Casas J.P., Gaunt T.R., Cooper J., Drenos F., Zabaneh D., Swerdlow D.I., Shah T., Sofat R., Palmen J., Kumari M., Kivimaki M., Ebrahim S., Smith G.D., Lawlor D.A., Talmud P.J., Whittaker J., Day I.N.M., Hingorani A.D. and Humphries S.E. (2013). Influence of common genetic variation on blood lipid levels, cardiovascular risk, and coronary events in two British prospective cohort studies. European Heart Journal, 34 (13), 972-981. doi: 10.1093/eurheartj/ehs243
Loci influencing blood pressure identified using a cardiovascular gene-centric array
Ganesh, S.K., Tragante, V., Guo, W., Guo, Y., Lanktree, M.B., Smith, E.N., Johnson, T., Castillo, B.A., Barnard, J., Baumert, J., Chang, Y.-P.C., Elbers, C.C., Farrall, M., Fischer, M.E., Franceschini, N., Gaunt, T.R., Gho, J.M.I.H., Gieger, C., Gong, Y., Isaacs, A., Kleber, M.E., Leach, I.M., McDonough, C.W., Meijs, M.F., Mellander, O., Molony, C.M., Nolte, I.M., Padmanabhan, S., Price, T.S. ... Asselbergs, F.W. (2013). Loci influencing blood pressure identified using a cardiovascular gene-centric array. Human Molecular Genetics, 22 (8), 1663-1678. doi: 10.1093/hmg/dds555
Talmud, Philippa J., Shah, Sonia, Whittall, Ros, Futema, Marta, Howard, Philip, Cooper, Jackie A., Harrison, Seamus C., Li, KaWah, Drenos, Fotios, Karpe, Frederik, Neil, H. Andrew W., Descamps, Olivier S., Langenberg, Claudia, Lench, Nicholas, Kivimaki, Mika, Whittaker, John, Hingorani, Aroon D., Kumari, Meena and Humphries, Steve E. (2013). Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet, 381 (9874), 1293-1301. doi: 10.1016/S0140-6736(12)62127-8
A gene-centric study of common carotid artery remodelling
Harrison S.C., Zabaneh D., Asselbergs F.W., Drenos F., Jones G.T., Shah S., Gertow K., Sennblad B., Strawbridge R.J., Gigante B., Holewijn S., De Graaf J., Vermeulen S., Folkersen L., van Rij A.M., Baldassarre D., Veglia F., Talmud P.J., Deanfield J.E., Agu O., Kivimaki M., Kumari M., Bown M.J., Nyyssonen K., Rauramaa R., Smit A.J., Franco-Cereceda A., Giral P., Mannarino E. ... Humphries S.E. (2013). A gene-centric study of common carotid artery remodelling. Atherosclerosis, 226 (2), 440-446. doi: 10.1016/j.atherosclerosis.2012.11.002
Shah S., Casas J.-P., Drenos F., Whittaker J., Deanfield J., Swerdlow D.I., Holmes M.V., Kivimaki M., Langenberg C., Wareham N., Gertow K., Sennblad B., Strawbridge R.J., Baldassarre D., Veglia F., Tremoli E., Gigante B., De Faire U., Kumari M., Talmud P.J., Hamsten A., Humphries S.E. and Hingorani A.D. (2013). Causal relevance of blood lipid fractions in the development of carotid atherosclerosis mendelian randomization analysis. Circulation: Cardiovascular Genetics, 6 (1), 63-72. doi: 10.1161/CIRCGENETICS.112.963140
Integration of genetics into a systems model of electrocardiographic traits using humancvd beadchip
Gaunt, Tom R, Shah, Sonia, Nelson, Christopher P, Drenos, Fotios, Braund, Peter S., Adeniran, Ismail, Folkersen, Lasse, Lawlor, Debbie A., Casas, Juan-Pablo, Amuzu, Antoinette, Kivimaki, Mika, Whittaker, John, Eriksson, Per, Zhang, Henggui, Hancox, Jules C., Tomaszewski, Maciej, Burton, Paul R., Tobin, Martin D., Humphries, Steve E., Talmud, Philippa J., Macfarlane, Peter W., Hingorani, Aroon D., Samani, Nilesh J., Kumari, Meena and Day, Ian N.M. (2012). Integration of genetics into a systems model of electrocardiographic traits using humancvd beadchip. Circulation: Cardiovascular Genetics, 5 (6), 630-638. doi: 10.1161/CIRCGENETICS.112.962852
Morris, Andrew P., Voight, Benjamin F., Teslovich, Tanya M., Ferreira, Teresa, Segre, Ayellet V., Steinthorsdottir, Valgerdur, Strawbridge, Rona J., Khan, Hassan, Grallert, Harald, Mahajan, Anubha, Prokopenko, Inga, Kang, Hyun Min, Dina, Christian, Esko, Tonu, Fraser, Ross M., Kanoni, Stavroula, Kumar, Ashish, Lagou, Vasiliki, Langenberg, Claudia, Luan, Jian'an, Lindgren, Cecilia M., Mueller-Nurasyid, Martina, Pechlivanis, Sonali, Rayner, N. William, Scott, Laura J., Wiltshire, Steven, Yengo, Loic, Kinnunen, Leena, Rossin, Elizabeth J. ... Shah, Sonia (2012). Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nature Genetics, 44 (9), 981-990. doi: 10.1038/ng.2383
Lanktree, Matthew B., Guo, Yiran, Murtaza, Muhammed, Glessner, Joseph T., Bailey, Swneke D., Onland-Moret, N. Charlotte, Lettre, Guillaume, Ongen, Halit, Rajagopalan, Ramakrishnan, Johnson, Toby, Shen, Haiqing, Nelson, Christopher P., Klopp, Norman, Baumert, Jens, Padmanabhan, Sandosh, Pankratz, Nathan, Pankow, James S., Shah, Sonia, Taylor, Kira, Barnard, John, Peters, Bas J., Maloney, Cliona M., Lobmeyer, Maximilian T., Stanton, Alice, Zafarmand, M. Hadi, Romaine, Simon P.R., Mehta, Amar, Van Iperen, Erik P.A., Gong, Yan ... Keating, Brendan J. (2012). Erratum: Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height ((The American Journal of Human Genetics (2010) 88 (6-18)). American Journal of Human Genetics, 90 (6), 1116-1117. doi: 10.1016/j.ajhg.2012.05.017
Saxena, Richa, Elbers, Clara C., Guo, Yiran, Peter, Inga, Gaunt, Tom R., Mega, Jessica L., Lanktree, Matthew B., Tare, Archana, Castillo, Berta Almoguera, Li, Yun R., Johnson, Toby, Bruinenberg, Marcel, Gilbert-Diamond, Diane, Rajagopalan, Ramakrishnan, Voight, Benjamin F., Balasubramanyam, Ashok, Barnard, John, Bauer, Florianne, Baumert, Jens, Bhangale, Tushar, Boehm, Bernhard O., Braund, Peter S., Burton, Paul R., Chandrupatla, Hareesh R., Clarke, Robert, Cooper-DeHoff, Rhonda M., Crook, Errol D., Davey-Smith, George, Day, Ian N. ... Keating, Brendan J. (2012). Erratum: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci (American Journal of Human Genetics (2012) 90 (410-425)). American Journal of Human Genetics, 90 (4), 753-753. doi: 10.1016/j.ajhg.2012.03.001
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci
Saxena, Richa, Elbers, Clara C., Guo, Yiran, Peter, Inga, Gaunt, Tom R., Mega, Jessica L., Lanktree, Matthew B., Tare, Archana, Castillo, Berta A., Li, Yun R., Johnson, Toby, Bruinenberg, Marcel, Gilbert-Diamond, Diane, Rajagopalan, Ramakrishnan, Voight, Benjamin F., Balasubramanyam, Ashok, Barnard, John, Bauer, Florianne, Baumert, Jens, Bhangale, Tushar, Bohm, Bernhard O., Braund, Peter S., Burton, Paul R., Chandrupatla, Hareesh R., Clarke, Robert, Cooper-Dehoff, Rhonda M., Crook, Errol D., Davey-Smith, George, Day, Ian N. ... Keating, Brendan J. (2012). Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. American Journal of Human Genetics, 90 (3), 410-425. doi: 10.1016/j.ajhg.2011.12.022
Papp, Audrey C., Pinsonneault, Julia K., Wang, Danxin, Newman, Leslie C., Gong, Yan, Johnson, Julie A., Pepine, Carl J., Kumari, Meena, Hingorani, Aroon D., Talmud, Philippa J., Shah, Sonia, Humphries, Steve E. and Sadee, Wolfgang (2012). Cholesteryl ester transfer protein (CETP) polymorphisms affect mRNA splicing, HDL levels, and sex-dependent cardiovascular risk. PLoS ONE, 7 (3) e31930, e31930.1-e31930.9. doi: 10.1371/journal.pone.0031930
Anacetrapib, a novel CETP inhibitor: pursuing a new approach to cardiovascular risk reduction
Gutstein, D. E., Krishna, R., Johns, D., Surks, H. K., Dansky, H. M., Shah, S., Mitchel, Y. B., Arena, J. and Wagner, J. A. (2012). Anacetrapib, a novel CETP inhibitor: pursuing a new approach to cardiovascular risk reduction. Clinical Pharmacology and Therapeutics, 91 (1), 109-122. doi: 10.1038/clpt.2011.271
Angelakopoulou, Aspasia, Shah, Tina, Sofat, Reecha, Shah, Sonia, Berry, Diane J., Cooper, Jackie, Palmen, Jutta, Tzoulaki, Ioanna, Wong, Andrew, Jefferis, Barbara J., Maniatis, Nikolas, Drenos, Fotios, Gigante, Bruna, Hardy, Rebecca, Laxton, Ross C., Leander, Karin, Motterle, Anna, Simpson, Iain A., Smeeth, Liam, Thomson, Andy, Verzilli, Claudio, Kuh, Diana, Ireland, Helen, Deanfield, John, Caulfield, Mark, Wallace, Chris, Samani, Nilesh, Munroe, Patricia B., Lathrop, Mark ... Hingorani, Aroon D. (2012). Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration. European Heart Journal, 33 (3), 393-407. doi: 10.1093/eurheartj/ehr225
IRS1 gene variants, dysglycaemic metabolic changes and type-2 diabetes risk
Yiannakouris, N., Cooper, J. A., Shah, S., Drenos, F., Ireland, H. A., Stephens, J. W., Li, K.-W., Elkeles, R., Godsland, I. F., Kivimaki, M., Hingorani, A. D., Kumari, M., Talmud, P. J. and Humphries, S. E. (2012). IRS1 gene variants, dysglycaemic metabolic changes and type-2 diabetes risk. Nutrition, Metabolism and Cardiovascular Diseases, 22 (12), 1024-1030. doi: 10.1016/j.numecd.2011.05.009
Gertow, Karl, Sennblad, Bengt, Strawbridge, Rona J., Ohrvik, John, Zabaneh, Delilah, Shah, Sonia, Veglia, Fabrizio, Fava, Cristiano, Kavousi, Maryam, McLachlan, Stela, Kivimaki, Mika, Bolton, Jennifer L., Folkersen, Lasse, Gigante, Bruna, Leander, Karin, Vikstrom, Max, Larsson, Malin, Silveira, Angela, Deanfield, John, Voight, Benjamin F., Fontanillas, Pierre, Sabater-Lleal, Maria, Colombo, Gualtiero I., Kumari, Meena, Langenberg, Claudia, Wareham, Nick J., Uitterlinden, André G., Gabrielsen, Anders, Hedin, Ulf ... Hamsten, Anders (2012). Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk. Circulation: Cardiovascular Genetics, 5 (6), 656-665. doi: 10.1161/CIRCGENETICS.112.963660
Scott, Robert A., Lagou, Vasiliki, Welch, Ryan P., Wheeler, Eleanor, Montasser, May E., Luan, Jian’an, Mägi, Reedik, Strawbridge, Rona J., Rehnberg, Emil, Gustafsson, Stefan, Kanoni, Stavroula, Rasmussen-Torvik, Laura J., Yengo, Loïc, Lecoeur, Cecile, Shungin, Dmitry, Sanna, Serena, Sidore, Carlo, Johnson, Paul C. D., Jukema, J. Wouter, Johnson, Toby, Mahajan, Anubha, Verweij, Niek, Thorleifsson, Gudmar, Hottenga, Jouke-Jan, Shah, Sonia, Smith, Albert V., Sennblad, Bengt, Gieger, Christian, Salo, Perttu ... Barroso, Inês (2012). Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nature Genetics, 44 (9), 991-1005. doi: 10.1038/ng.2385
Smith, Andrew J. P., Howard, Philip, Shah, Sonia, Eriksson, Per, Stender, Stefan, Giambartolomei, Claudia, Folkersen, Lasse, Tybjaerg-Hansen, Anne, Kumari, Meena, Palmen, Jutta, Hingorani, Aroon D., Talmud, Philippa J. and Humphries, Steve E. (2012). Use of Allele-Specific FAIRE to Determine Functional Regulatory Polymorphism Using Large-Scale Genotyping Arrays. PLoS Genetics, 8 (8) e1002908, e1002908.1-e1002908.10. doi: 10.1371/journal.pgen.1002908
Transcriptomic analyses of murine resolution-phase macrophages
Stables, Melanie J., Shah, Sonia, Camon, Evelyn B., Lovering, Ruth C., Newson, Justine, Bystrom, Jonas, Farrow, Stuart and Gilroy, Derek W. (2011). Transcriptomic analyses of murine resolution-phase macrophages. Blood, 118 (26), e192-e208. doi: 10.1182/blood-2011-04-345330
Blood pressure loci identified with a gene-centric array
Johnson, Toby, Gaunt, Tom R., Newhouse, Stephen J., Padmanabhan, Sandosh, Tomaszewski, Marciej, Kumari, Meena, Morris, Richard W., Tzoulaki, Ioanna, O'Brien, Eoin T., Poulter, Neil R., Sever, Peter, Shields, Denis C., Thom, Simon, Wannamethee, Sasiwarang G., Whincup, Peter H., Brown, Morris J., Connell, John M., Dobson, Richard J., Howard, Philip J., Mein, Charles A., Onipinla, Abiodun, Shaw-Hawkins, Sue, Zhang, Yun, Smith, George Davey, Day, Ian N. M., Lawlor, Debbie A., Goodall, Alison H.., Fowkes, F. Gerald, Abecasis, Goncalo R. ... Munroe, Patricia B. (2011). Blood pressure loci identified with a gene-centric array. American Journal of Human Genetics, 89 (6), 688-700. doi: 10.1016/j.ajhg.2011.10.013
Lanktree, Matthew B., Guo, Yiran, Murtaza, Muhammed, Glessner, Joseph T., Bailey, Swneke D., Onland-Moret, N. Charlotte, Lettre, Guillaume, Ongen, Halit, Rajagopalan, Ramakrishnan, Johnson, Toby, Shen, Haiqing, Nelson, Christopher P., Klopp, Norman, Baumert, Jens, Padmanabhan, Sandosh, Pankratz, Nathan, Pankow, James S., Shah, Sonia, Taylor, Kira, Barnard, John, Peters, Bas J., Maloney, Cliona M., Lobmeyer, Maximilian T., Stanton, Alice, Zafarmand, M. Hadi, Romaine, Simon P. R., Mehta, Amar, van Iperen, Erik P. A., Gong, Yan ... Keating, Brendan J. (2011). Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. American Journal of Human Genetics, 88 (1), 6-18. doi: 10.1016/j.ajhg.2010.11.007
Ferraz-de-Souza, Bruno, Lin, Lin, Shah, Sonia, Jina, Nipurna, Hubank, Mike, Dattani, Mehul T. and Achermann, John C. (2011). ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland. FASEB Journal, 25 (4), 1166-1175. doi: 10.1096/fj.10-170522
Four genetic loci influencing electrocardiographic indices of left ventricular hypertrophy
Shah, Sonia, Nelson, Christopher P., Gaunt, Tom R., van der Harst, Pim, Barnes, Timothy, Braund, Peter S., Lawlor, Debbie A., Casas, Juan-Pablo, Padmanabhan, Sandosh, Drenos, Fotios, Kivimaki, Mika, Talmud, Philippa J., Humphries, Steve E., Whittaker, John, Morris, Richard W., Whincup, Peter H., Dominiczak, Anna, Munroe, Patricia B., Johnson, Toby, Goodall, Alison H., Cambien, Francois, Diemert, Patrick, Hengstenberg, Christian, Ouwehand, Willem H., Felix, Janine F., Glazer, Nicole L., Tomaszewski, Maciej, Burton, Paul R., Tobin, Martin D. ... Samani, Nilesh J. (2011). Four genetic loci influencing electrocardiographic indices of left ventricular hypertrophy. Circulation: Cardiovascular Genetics, 4 (6), 626-635. doi: 10.1161/CIRCGENETICS.111.960203
Zabaneh, Delilah, Gaunt, Tom R., Kumari, Meena, Drenos, Fotios, Shah, Sonia, Berry, Diane, Power, Chris, Hypponen, Elina, Shah, Tina, Palmen, Jutta, Pallas, Jacky, Talmud, Philippa J., Casas, Juan Pablo, Sofat, Reecha, Lowe, Gordon, Rumley, Ann, Morris, Richard W., Whincup, Peter H., Rodriguez, Santiago, Ebrahim, Shah, Marmot, Michael G., Smith, George Davey, Lawlor, Debbie A., Kivimaki, Mika, Whittaker, John, Hingorani, Aroon D., Day, Ian N. and Humphries, Steve E. (2011). Genetic Variants Associated with von Willebrand Factor Levels in Healthy Men and Women Identified Using the HumanCVD BeadChip. Annals of Human Genetics, 75 (4), 456-467. doi: 10.1111/j.1469-1809.2011.00654.x
Zabaneh, Delilah, Kumari, , Meena, Sandhu, Manj, Wareham, Nick, Wainwright, Nick, Papamarkou, Theodore, Hopewell, Jemma, Clarke, Robert, Li, KaWah, Palmen, Jutta, Talmud, Philippa J., Kronenberg, Florian, Lamina, Claudia, Summerer, Monika, Paulweber, Bernhard, Price, Jackie, Fowkes, Gerry, Stewart, Marlene, Drenos, Fotios, Shah, Sonia, Shah, Tina, Casas, Juan-Pablo, Kivimaki, Mika, Whittaker, John, Hingorani, Aroon D. and Humphries, Steve E. (2011). Meta analysis of candidate gene variants outside the LPA locus with Lp(a) plasma levels in 14,500 participants of six White European cohorts. Atherosclerosis, 217 (2), 447-451. doi: 10.1016/j.atherosclerosis.2011.04.015
Safety of anacetrapib in patients with or at high risk for coronary heart disease
Cannon, Christopher P., Shah, Sukrut, Dansky, Hayes M., Davidson, Michael, Brinton, Eliot A., Gotto Jr., Antonio M., Stepanavage, Michael, Liu, Sherry Xueyu, Gibbons, Patrice, Ashraf, Tanya B., Zafarino, Jennifer, Mitchel, Yale and Barter, Philip (2010). Safety of anacetrapib in patients with or at high risk for coronary heart disease. New England Journal of Medicine, 363 (25), 2406-2415. doi: 10.1056/NEJMoa1009744
Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip
Talmud, Philippa J., Drenos, Fotios, Shah, Sonia, Shah, Tina, Palmen, Jutta, Verzilli, Claudio, Gaunt, Tom R., Pallas, Jacky, Lovering, Ruth, Li, Kawah, Casas, Juan Pablo, Sofat, Reecha, Kumari, Meena, Rodriguez, Santiago, Johnson, Toby, Newhouse, Stephen J., Dominiczak, Anna, Samani, Nilesh J., Caulfield, Mark, Sever, Peter, Stanton, Alice, Shields, Denis C., Padmanabhan, Sandosh, Melander, Olle, Hastie, Claire, Delles, Christian, Ebrahim, Shah, Marmot, Michael G., Smith, George Davey ... Hingorani, Aroon D. (2009). Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. American Journal of Human Genetics, 85 (5), 628-642. doi: 10.1016/j.ajhg.2009.10.014
Prox1 maintains muscle structure and growth in the developing heart
Risebro, Catherine A., Searles, Richelle G., Melville, Athalie A. D., Ehler, Elisabeth, Jina, Nipurna, Shah, Sonia, Pallas, Jacky, Hubank, Mike, Dillard, Miriam, Harvey, Natasha L., Schwartz, Robert J., Chien, Kenneth R., Oliver, Guillermo and Riley, Paul R. (2009). Prox1 maintains muscle structure and growth in the developing heart. Development, 136 (3), 495-505. doi: 10.1242/dev.030007
Cannon, Christopher P., Dansky, Hayes M., Davidson, Michael, Gotto Jr., Antonio M., Brinton, Eliot A., Gould, A. Lawrence, Stepanavage, Michael, Liu, Sherry Xueyu, Shah, Sukrut, Rubino, Joseph, Gibbons, Patrice, Hermanowski-Vosatka, Anne, Binkowitz, Bruce, Mitchel, Yale and Barter, Philip (2009). Design of the DEFINE trial: Determining the EFficacy and Tolerability of CETP INhibition with AnacEtrapib. American Heart Journal, 158 (4), 513-519.e3. doi: 10.1016/j.ahj.2009.07.028
Identifying differential exon splicing using linear models and correlation coefficients.
Shah, Sonia H. and Pallas, Jacqueline A. (2009). Identifying differential exon splicing using linear models and correlation coefficients.. BMC bioinformatics, 10 (1) 26, 26.1-26.16. doi: 10.1186/1471-2105-10-26
Li, Charles Kwok-chong, Knopp, Paul, Moncrieffe, Halima, Singh, Bhanu, Shah, Sonia, Nagaraju, Kanneboyina, Varsani, Hemlata, Gao, Bin and Wedderburn, Lucy R. (2009). Overexpression of MHC class I heavy chain protein in young skeletal muscle leads to severe myositis: implications for juvenile myositis. American Journal of Pathology, 175 (3), 1030-1040. doi: 10.2353/ajpath.2009.090196
rHVDM: An R package to predict the activity and targets of a transcription factor
Barenco, M., Papouli, E., Shah, S., Brewer, D., Miller, C. J. and Hubank, M. (2009). rHVDM: An R package to predict the activity and targets of a transcription factor. Bioinformatics, 25 (3), 419-420. doi: 10.1093/bioinformatics/btn639
Annotation of environmental OMICS data: Application to the transcriptomics domain
Morrison N., Wood A.J., Hancock D., Shah S., Hakes L., Gray T., Tiwari B., Kille P., Cossins A., Hegarty M., Allen M.J., Wilson W.H., Olive P., Last K., Kramer C., Bailhache T., Reeves J., Pallett D., Warne J., Nashar K., Parkinson H., Sansone S.-A., Rocca-Serra P., Stevens R., Snape J., Brass A. and Field D. (2006). Annotation of environmental OMICS data: Application to the transcriptomics domain. OMICS A Journal of Integrative Biology, 10 (2), 172-178. doi: 10.1089/omi.2006.10.172
Holmes, Michael V., Shah, Sonia H., Angelakopoulou, Aspasia, Khan, Tauseef, Swerdlow, Daniel, Kuchenbaecker, Karoline, Sofat, Reecha and Shah, Tina (2010). A report on the Genetics of Complex Diseases meeting of the British Atherosclerosis Society, Cambridge, UK, 17-18 September 2009. E. Park, Shannon, Co. Clare, Ireland: Elsevier Ireland. doi: 10.1016/j.atherosclerosis.2009.11.034
Shah, S., Drenos, F., Shah, T., Palmen, J., Sofat, R., Kumari, M., Pallas, J., MacFarlane, P., Whittaker, J., Talmud, P., Humphries, S. and Hingorani, A. (2010). Identification of Genes Associated with Qt Interval Using the 50K Cardio-Metabolic Snp Chip: Results From the Whitehall II Study. 78th Congress of the European-Atherosclerosis-Society, Hamburg Germany, Jun 20-23, 2010.
Complex disease genetics: present and future translational applications
Holmes, Michael V., Shah, Sonia H., Angelakopoulou, Aspasia, Khan, Tauseef, Swerdlow, Daniel, Kuchenbaecker, Karoline, Sofat, Reecha and Tina, Tina (2009). Complex disease genetics: present and future translational applications. London, United Kingdom: BioMed Central. doi: 10.1186/gm104
Shah, S., Drenos, F., Shah, T., Palmen, J., Vezzili, C., Sofat, R., Kumari, M., Kivamaki, M., Pallas, J., MacFarlane, P., Whittaker, J., Talmud, P. J., Humphries, S. E. and Hingorani, A. D. (2009). IDENTIFICATION OF GENES ASSOCIATED WITH QT INTERVAL USING THE 50K CARDIO-METABOLIC SNP CHIP: RESULTS FROM THE WHITEHALL II STUDY. Autumn Meeting of the British-Atherosclerosis-Society, Cambridge England, Sep 17-18, 2009. CLARE: ELSEVIER IRELAND LTD. doi: 10.1016/j.atherosclerosis.2009.09.058
Humphries, S. E., Talmud, P. J., Drenos, F., Shah, S., Palmen, S., Shah, T., Kumari, M., Kivimaki, M., Pallas, J., Casas, J. P., Whittaker, J. and Hingorani, A. (2009). Exploring the Genetic Architecture of Lipid Traits in Whitehall II Healthy Men and Women Using the 50K-Snp Cardio-Metabolic Chip. 23rd Annual Medical and Scientific Meeting of HEART-UK, Liverpool England, Jun 24-26, 2009. ELSEVIER IRELAND LTD. doi: 10.1016/j.atherosclerosis.2009.07.002
Humphries, S., Talmud, P., Drenos, F., Shah, S., Palmen, J., Shah, T., Kumari, M., Pallas, J., Casas, J., Whittaker, J. and Hingorani, A. (2009). Genetic Determinants of Ldl-C Levels: Using the 50K Cardio-Metabolic Chip to Explore the Genetic Architecture of Lipid Traits in Whitehall II. ELSEVIER IRELAND LTD.
DEVELOPING UQ's FIRST HIGH-THROUGHPUT GENOMICS PIPELINE FOR DRUG DISCOVERY
(2023) UQ Foundation Research Excellence Awards
(2022–2027) University of New South Wales
TRIAGE: A disease agnostic computational and modelling platform to accelerate variant classification
(2022–2026) NHMRC MRFF Genomics Health Futures Mission
(2022–2026) National Heart Foundation Future Leader Fellowship
(2022–2024) NHMRC MRFF Genomics Health Futures Mission
(2021–2023) NHMRC IDEAS Grants
Evaluating the utility of polygenic risk scores within the Queensland Cardiac Genetics Clinic
(2021–2022) UQ Knowledge Exchange & Translation Fund
(2019–2022) Baker IDI Heart & Diabetes Institute
(2018–2021) NHMRC Early Career Fellowships
Using Transcriptomics technologies in health-related research: Applications and Challenges
Doctor Philosophy — Principal Advisor
Other advisors:
Using genomics to predict the mechanism-of-action of a chemical entity
Doctor Philosophy — Principal Advisor
Other advisors:
Using statistical genomics analyses to improve our understanding of heart failure
Doctor Philosophy — Principal Advisor
Other advisors:
Understanding genetic adaptation of the heart to extreme environments
Doctor Philosophy — Associate Advisor
Other advisors: