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Publications:  Dr Loukas Moutsianas

Croft N(2020). Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nature Communications vol. 11, Article 995,
10.1038/s41467-019-14275-y
https://qmro.qmul.ac.uk/xmlui/handle/123456789/62971
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H et al.(2020). Human and mouse essentiality screens as a resource for disease gene discovery. Nature Communications vol. 11, (1)
10.1038/s41467-020-14284-2
https://qmro.qmul.ac.uk/xmlui/handle/123456789/63299
Sazonovs A, Kennedy NA, Moutsianas L, Heap GA, Rice DL, Reppell M, Bewshea CM, Chanchlani N et al.(2019). HLA-DQA1*05 Carriage Associated With Development of Anti-Drug Antibodies to Infliximab and Adalimumab in Patients With Crohn's Disease. Gastroenterology vol. 158, (1) 189-199.
10.1053/j.gastro.2019.09.041
https://qmro.qmul.ac.uk/xmlui/handle/123456789/62124
Wheway G, Mitchison HM, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR et al.(2019). Corrigendum: Opportunities and challenges for molecular understanding of ciliopathies - The 100,000 Genomes Project (Frontiers in Genetics DOI: 10.3389/fgene.2019.00127). Frontiers in Genetics vol. 10, (MAY)
10.3389/fgene.2019.00569
Wheway G, Mitchison HM, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR et al.(2019). Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project. Frontiers in Genetics vol. 10, (MAR)
10.3389/fgene.2019.00127
Weersma RK, Xavier RJ, Weersma RK, Barrett JC, Vermeire S, Xavier RJ, Anderson CA, Wijmenga C et al.(2018). Multiomics Analyses to Deliver the Most Effective Treatment to Every Patient With Inflammatory Bowel Disease. Gastroenterology vol. 155, (5) e1-e4.
10.1053/j.gastro.2018.07.039
Sazonovs A, Kennedy NA, Bewshea C, Moutsianas L, Walker GJ, De lange K, Goodhand JR, Anderson C et al. (2018). HLA-DQA1 CONTRIBUTES TO THE DEVELOPMENT OF ANTIBODIES TO ANTI-TNF THERAPY IN CROHN'S DISEASE. GUT. vol. 67, A52-A53.
10.1136/gutjnl-2018-BSGAbstracts.105
Sazonovs A, Kennedy NA, Bewshea CM, Moutsianas L, Walker GJ, De Lange K, Goodhand J, Anderson C et al. (2018). HLA-DQA1 CONTRIBUTES TO THE DEVELOPMENT OF ANTIBODIES TO ANTI-TNF THERAPY IN CROHN'S DISEASE. GASTROENTEROLOGY. vol. 154, S124-S125.
Goode E, Moutsianas L, Soranzo N, Rushbrook S, Raine T, Anderson C (2018). Fine-mapping and colocalisation analysis of GWAS risk loci in Primary Sclerosing Cholangitis suggests role for proto-oncogene ETS2 in disease pathogenesis. JOURNAL OF HEPATOLOGY. vol. 68, S457-S457.
10.1016/S0168-8278(18)31157-7
Sazonovs A, Kennedy NA, Bewshea C, Moutsianas L, Walker GJ, De lange K, Goodhand J, Anderson C et al. (2018). HLA-DQA1 contributes to the development of antibodies to anti-TNF therapy in Crohn's disease. JOURNAL OF CROHNS & COLITIS. vol. 12, S9-S10.
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R et al.(2018). Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific data vol. 5,
10.1038/sdata.2018.2
Moutsianas L, Gutierrez-Achury J(2018). Genetic association in the HLA region. vol. 1793, 111-134.
10.1007/978-1-4939-7868-7_8
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R et al.(2017). Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data vol. 4, 170179-170179.
10.1038/sdata.2017.179
Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA et al.(2017). A low-frequency inactivating AKT2 variant enriched in the finnish population is associated with fasting insulin levels and type 2 diabetes risk. Diabetes vol. 66, (7) 2019-2032.
10.2337/db16-1329
Moutsianas L, De Lange K, Luo Y, Lee J, Jostins L, Lamb C, Kennedy N, Mansfield J et al. (2017). Whole genome sequencing and imputation in inflammatory bowel disease identifies 26 novel loci and offers therapeutically-relevant mechanistic insights. JOURNAL OF CROHNS & COLITIS. vol. 11, S1-S1.
Luo Y, De Lange KM, Jostins L, Moutsianas L, Randall J, Kennedy NA, Lamb CA, McCarthy S et al.(2017). Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7. Nature Genetics vol. 49, (2) 186-192.
10.1038/ng.3761
De Lange KM, Moutsianas L, Lee JC, Lamb CA, Luo Y, Kennedy NA, Jostins L, Rice DL et al.(2017). Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. Nature Genetics vol. 49, (2) 256-261.
10.1038/ng.3760
Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P et al.(2016). The genetic architecture of type 2 diabetes. Nature vol. 536, (7614) 41-47.
10.1038/nature18642
https://qmro.qmul.ac.uk/xmlui/handle/123456789/23544
Moutsianas L, Jostins L, Beecham AH, Dilthey AT, Xifara DK, Ban M, Shah TS, Patsopoulos NA et al.(2015). Class II HLA interactions modulate genetic risk for multiple sclerosis. Nature Genetics vol. 47, (10) 1107-1113.
10.1038/ng.3395
Kavvoura FK, Moutsianas L, Bennett A, Mahajan A, Robertson N, Rayner NW, Groves CJ, Owen KR et al. (2015). Using genomic information to differentiate diabetes aetiology in young-adult onset diabetes. DIABETOLOGIA. vol. 58, S22-S22.
Kavvoura FK, Moutsianas L, Bennett AJ, Mahajan A, Robertson N, Rayner NW, Groves CJ, Owen KR et al. (2015). Can Genomic Information Aid in Establishing Aetiology of Young Adult Onset Diabetes?. DIABETES. vol. 64, A452-A453.
Tajes JF, Gaulton K, Van De Bunt M, Moutsianas L, Thomsen S, Rayner W, Thurner M, Mccarthy MI et al. (2015). Casual Gene Prediction at Type 2 Diabetes Loci through Integration of Genetic Association and Functional Annotation. DIABETES. vol. 64, A463-A463.
Moutsianas L, Agarwala V, Fuchsberger C, Flannick J, Rivas MA, Gaulton KJ, Albers PK, McVean G et al.(2015). The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease. PLoS Genetics vol. 11, (4)
10.1371/journal.pgen.1005165
Kavvoura FK, Moutsianas L, Bennett AJ, Mahajan A, Robertson N, Rayner NW, Groves CJ, Owen KR et al. (2015). Using genomic information to differentiate aetiology in young adult onset diabetes. DIABETIC MEDICINE. vol. 32, 18-18.
Mahajan A, Sim X, Ng HJ, Manning A, Rivas MA, Highland HM, Locke AE, Grarup N et al.(2015). Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus. PLoS Genetics vol. 11, (1)
10.1371/journal.pgen.1004876
Valli A, Rodriguez M, Moutsianas L, Fischer R, Fedele V, Huang HL, Van Stiphout R, Jones D et al.(2015). Hypoxia induces a lipogenic cancer cell phenotype via HIF1α-dependent and -independent pathways. Oncotarget vol. 6, (4) 1920-1941.
10.18632/oncotarget.3058
Rivas MA, Moutsianas L(2015). Power of rare variant aggregate tests. Assessing Rare Variation in Complex Traits: Design and Analysis of Genetic Studies,
Thurner M, Mahajan A, Robertson N, Kumar A, Rayner W, Moutsianas L, Fernandez J, Karpe F et al. (2014). Identification of Gene Loss of Function Deletions from Dense Exome Array Data and Their Role in Type 2 Diabetes. DIABETES. vol. 63, A413-A413.
Wang SR, Agarwala V, Flannick J, Chiang CWK, Altshuler D, GoT2D Consortium, Hirschhorn JN(2014). Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. Am J Hum Genet vol. 94, (5) 710-720.
10.1016/j.ajhg.2014.03.019
Damotte V, Guillot-Noel L, Patsopoulos NA, Madireddy L, El Behi M, International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, De Jager PL et al.(2014). A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility. Genes Immun vol. 15, (2) 126-132.
10.1038/gene.2013.70
Ayub Q, Moutsianas L, Chen Y, Panoutsopoulou K, Colonna V, Pagani L, Prokopenko I, Ritchie GRS et al.(2014). Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes. American Journal of Human Genetics vol. 94, (2) 176-185.
10.1016/j.ajhg.2013.12.010
Moutsianas L, Morris AP(2014). Methodology for the analysis of rare genetic variation in genome-wide association and re-sequencing studies of complex human traits. Briefings in Functional Genomics vol. 13, (5) 362-370.
10.1093/bfgp/elu012
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB, Manning AK et al.(2014). Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proceedings of the National Academy of Sciences of the United States of America vol. 111, (36) 13127-13132.
10.1073/pnas.1410428111
Tachmazidou I, Dedoussis G, Southam L, Farmaki AE, Ritchie GRS, Xifara DK, Matchan A, Hatzikotoulas K et al.(2013). A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates. Nature Communications vol. 4,
10.1038/ncomms3872
Mechelli R, Umeton R, Policano C, Annibali V, Coarelli G, Ricigliano VAG, Vittori D, Fornasiero A et al.(2013). A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis. PLoS ONE vol. 8, (5)
10.1371/journal.pone.0063300
Dilthey A, Leslie S, Moutsianas L, Shen J, Cox C, Nelson MR, McVean G(2013). Multi-Population Classical HLA Type Imputation. PLoS Computational Biology vol. 9, (2)
10.1371/journal.pcbi.1002877
Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C et al.(2013). Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nature Genetics vol. 45, (11) 1353-1362.
10.1038/ng.2770
Rivas MA, Pirinen M, Neville MJ, Gaulton KJ, Moutsianas L, Lindgren CM, Karpe F, McCarthy MI et al.(2013). Assessing association between protein truncating variants and quantitative traits. Bioinformatics vol. 29, (19) 2419-2426.
10.1093/bioinformatics/btt409
Manning AK, Sim X, Locke AE, Agarwala V, Moutsianas L, Weyant R, McCarthy MI, Altshuler D et al. (2012). Comparing Power for Gene-based and Low-frequency SNP Tests in Quantitative Traits (a GoT2D Study). GENETIC EPIDEMIOLOGY. vol. 36, 761-761.
Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Deloukas P et al.(2012). Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia. Biological Psychiatry vol. 72, (8) 620-628.
10.1016/j.biopsych.2012.05.035
Dilthey AT, Leslie S, Shen J, Moutsianas L, Nelson MR, McVean G (2012). CLASSICAL HLA TYPE IMPUTATION FOR MULTI-POPULATION STUDIES. TISSUE ANTIGENS. vol. 79, 418-419.
Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C, Toneva I, Vaughan B, Preuss D et al.(2012). The 1000 Genomes Project: data management and community access. Nat Methods vol. 9, (5) 459-462.
10.1038/nmeth.1974
Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M et al.(2011). The functional spectrum of low-frequency coding variation. Genome Biol vol. 12, (9)
10.1186/gb-2011-12-9-r84
Oppermann U, Moutsianas L(2011). Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility (vol 43, pg 761, 2011). NATURE GENETICS vol. 43, (9) 919-919.
10.1038/ng0911-919a
Sawcer S, Hellenthal G, Pirinen M, Spencer CCA, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z et al.(2011). Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature vol. 476, (7359) 214-219.
10.1038/nature10251
Evans DM, Spencer CCA, Pointon JJ, Su Z, Harvey D, Kochan G, Opperman U, Dilthey A et al.(2011). Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nature Genetics vol. 43, (8) 761-767.
10.1038/ng.873
Moutsianas L, Enciso-Mora V, Ma YP, Leslie S, Dilthey A, Broderick P, Sherborne A, Cooke R et al.(2011). Multiple Hodgkin lymphoma-associated loci within the HLA region at chromosome 6p21.3. Blood vol. 118, (3) 670-674.
10.1182/blood-2011-03-339630
Dilthey AT, Moutsianas L, Leslie S, McVean G(2011). HLA<sup>*</sup>IMP-an integrated framework for imputing classical HLA alleles from SNP genotypes. Bioinformatics vol. 27, (7) 968-972.
10.1093/bioinformatics/btr061
Hosking FJ, Leslie S, Dilthey A, Moutsianas L, Wang Y, Dobbins SE, Papaemmanuil E, Sheridan E et al.(2011). MHC variation and risk of childhood B-cell precursor acute lymphoblastic leukemia. Blood vol. 117, (5) 1633-1640.
10.1182/blood-2010-08-301598
Strange A, Capon F, Spencer CCA, Knight J, Weale ME, Allen MH, Barton A, Band G et al.(2010). A genome-wide asociation study identifies new psoriasis susceptibility loci and an interaction betwEn HLA-C and ERAP1. Nature Genetics vol. 42, (11) 985-990.
10.1038/ng.694
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L et al.(2010). Diversity of human copy number variation and multicopy genes. Science vol. 330, (6004) 641-646.
10.1126/science.1197005
Altshuler DL, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Collins FS, De La Vega FM et al.(2010). A map of human genome variation from population-scale sequencing. Nature vol. 467, (7319) 1061-1073.
10.1038/nature09534
Surakka I, Kristiansson K, Anttila V, Inouye M, Barnes C, Moutsianas L, Salomaa V, Daly M et al.(2010). Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging. Genome Research vol. 20, (10) 1344-1351.
10.1101/gr.106534.110
Altshuler DM, Gibbs RA, Peltonen L, Schaffner SF, Yu F, Dermitzakis E, Bonnen PE, De Bakker PIW et al.(2010). Integrating common and rare genetic variation in diverse human populations. Nature vol. 467, (7311) 52-58.
10.1038/nature09298
Klingelhoefer JW, Moutsianas L, Holmes C(2009). Approximate Bayesian feature selection on a large meta-dataset offers novel insights on factors that effect siRNA potency. Bioinformatics vol. 25, (13) 1594-1601.
10.1093/bioinformatics/btp284
https://qmro.qmul.ac.uk/xmlui/handle/123456789/56518
Van Der Wath E, Moutsianas L, Van Der Wath R, Visagie A, Milanesi L, Liò P(2007). Grid methodology for identifying co-regulated genes and transcription factor binding sites. IEEE Transactions on Nanobioscience vol. 6, (2) 162-167.
10.1109/TNB.2007.897470
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