Publications

Recent and Notable Publications

Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis

, Akar, Servet, Yarkan, Handan, , Cetin, Pinar, Can, Gercek, Kenar, Gokce, Capa, Fernur, Pamuk, Omer Nuri, Pehlivan, Yavuz, Cremin, Katie, De Guzman, Erika, , , Jamshidi, Ahmadreza, Vojdanian, Mahdi, Farhadi, Elham, Ahmadzadeh, Nooshin, Yuce, Zeynep, Dalkılıç, Ediz, Solmaz, Dilek, Aken, Berrin, Dönmez, Salim, Sari, Ismail, , , Onen, Fatos, Mahmoudi, Mahdi, , & Akkoc, Nurullah (2019) Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis. PLoS Genetics, 15(4), Article number- e1008038.
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    HLA alleles associated with risk of ankylosing spondylitis and rheumatoid arthritis influence the gut microbiome

    Asquith, Mark, , , Karstens, Lisa, Diamond, Sarah, Martin, Tammy M., , , Spector, Timothy D., Cao, Kim‐Anh, Rosenbaum, James T., & (2019) HLA alleles associated with risk of ankylosing spondylitis and rheumatoid arthritis influence the gut microbiome. Arthritis & Rheumatology, 71(10), pp. 1642-1650.
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    HLA class I and II alleles in susceptibility to ankylosing spondylitis

    Reveille, John D., Zhou, Xiaodong, Lee, MinJae, Weisman, Michael H., Yi, Lin, Gensler, Lianne S., Zou, Hejian, Ward, Michael M., Ishimori, Mariko L., Learch, Thomas J., He, Dongyi, Rahbar, Mohammad H., Wang, Jiucun, & (2019) HLA class I and II alleles in susceptibility to ankylosing spondylitis. Annals of the Rheumatic Diseases, 78(1), pp. 66-73.
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    Genetic Variants in ERAP1 and ERAP2 Associated With Immune-Mediated Diseases Influence Protein Expression and the Isoform Profile

    Hanson, Aimee L., Cuddihy, Thomas, Haynes, Katelin, Loo, Dorothy, Morton, Craig J., Oppermann, Udo, , Thomas, Gethin P., Lê Cao, Kim-Anh, , & (2018) Genetic variants in ERAP1 and ERAP2 associated with immune-mediated diseases influence protein expression and the isoform profile. Arthritis and Rheumatology, 70(2), pp. 255-265.
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    CDKN2A mutations causing familial melanoma and astrocytoma

    , , Sturm, R.A., Tan, J.-M., Harris, J.E., , Jagirdar, K., , , Soyer, H.P., & (2018) Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma. British Journal Of Dermatology. (In Press)
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    Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes

    Gregson, Celia L., , , , Paternoster, Lavinia, , Forgetta, Vincenzo, Morris, John A., Ge, Bing, , Duncan Bassett, J.H., Williams, Graham R., Youlten, Scott E., Croucher, Peter I., Davey Smith, George, Evans, David M., Kemp, John P., , Tobias, Jon H., & (2018) Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes. Bone, 114, pp. 62-71.
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    HLA and KIR Associations of Cervical Neoplasia.

    , Hanson, Aimee L., Madeleine, Margaret M., Wang, Sophia S., Schwartz, Stephen M., Newell, Felicity, Pettersson-Kymmer, Ulrika, Hemminki, Kari, Tiews, Sven, Steinberg, Winfried, Rader, Janet S., Castro, Felipe, Safaeian, Mahboobeh, Franco, Eduardo L., Coutlée, François, Ohlsson, Claes, Cortes, Adrian, , Mukhopadhyay, Pamela, Cremin, Katie, Johnson, Lisa G., Garland, Suzanne M., Tabrizi, Sepehr N., Wentzensen, Nicolas, Sitas, Freddy, Trimble, Cornelia, Little, Julian, Cruickshank, Maggie, Frazer, Ian H., Hildesheim, Allan, , , Sun, Ying Pu, & (2018) HLA and KIR associations of cervical neoplasia. Journal of Infectious Diseases, 218(12), pp. 2006-2015.
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    Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis

    Cortes, Adrian, Gladman, Dafna, Raychaudhuri, Soumya, Cui, Jing, , & (2018) Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis. Annals of the Rheumatic Diseases, 77(11), pp. 1691-1692.
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    The genetic susceptibility to cervical neoplasia

    , Madeleine, Margaret M., Wang, Sophia, Schwartz, Stephen M., , Kymmer, Ulrika, Hemminki, Kari, Hallmans, Goran, Tiews, Sven, Steinberg, Winfried, Rader, Janet S., Castro, Filipe, Safaeian, Mahboobeh, Franco, Eduardo L., Coutlee, Francois, Ohlsson, Claes, , , Mukhopadhyay, Pamela, , Johnson, Lisa G., Garland, Suzanne, Tarbrizi, Sepehr, Wentzensen, Nicolas, Sitas, Freddy, Little, Julian, Cruickshank, Maggie, Frazer, Ian H., Hildesheim, Allan, & (2017) Defining the genetic susceptibility to cervical neoplasia: A genome-wide association study. PLoS Genetics, 13(8), e1006866.
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    Epigenetic and gene expression analysis of ankylosing spondylitis-associated loci

    , Haynes, K., , , , Thomas, G.P., , , & (2017) Epigenetic and gene expression analysis of ankylosing spondylitis-associated loci implicate immune cells and the gut in the disease pathogenesis. Genes and Immunity, 18, pp. 135-143.
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    Homozygous variant in C21orf2 in a case of Jeune syndrome

    , , , , Zankl, Andreas, , , Wicking, Carol, & (2017) Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. American Journal of Medical Genetics Part A, 173A(6), pp. 1698-1704.
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    Transcriptome Analysis of Ankylosing Spondylitis Patients Before and After TNF-α Inhibitor Therapy

    Wang, Xiaobing, , , , , , , , , & (2017) Transcriptome Analysis of Ankylosing Spondylitis Patients Before and After TNF-α Inhibitor Therapy Reveals the Pathways Affected. Genes and Immunity. (In Press)
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    NAD Deficiency, Congenital Malformations, and Niacin Supplementation

    Shi, Hongjun, Enriquez, Annabelle, Rapadas, Melissa, Martin, Ella M.M.A., Wang, Roni, Moreau, Julie, Lim, Chai K., Szot, Justin O., Ip, Eddie, Hughes, James N., Sugimoto, Kotaro, Humphreys, David T., , , Maghzal, Ghassan J., Halliday, Jake, Smith, Janine, Colley, Alison, Mark, Paul R., Collins, Felicity, Sillence, David O., Winlaw, David S., Ho, Joshua W.K., Guillemin, Gilles J., , Kikuchi, Kazu, Thomas, Paul Q., Stocker, Roland, Giannoulatou, Eleni, Chapman, Gavin, , Sparrow, Duncan B., & Dunwoodie, Sally L. (2017) NAD deficiency, congenital malformations, and niacin supplementation. New England Journal of Medicine, 377(6), pp. 544-552.
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    Analysis of five chronic inflammatory diseases identifies 27 new associations

    Ellinghaus, David, Jostins, Luke, Spain, Sarah L., Cortes, Adrian, Bethune, Jörn, Han, Buhm, Park, Yu Rang, Raychaudhuri, Soumya, Pouget, Jennie G., Hubenthal, Matthias, Folseraas, Trine, Wang, Yunpeng, Esko, Tonu, Metspalu, Andres, Westra, Harm-Jan, Franke, Lude, Pers, Tune H., Weersma, Rinse K., Collij, Valerie, D'Amato, Mauro, Halfvarson, Jonas, Jensen, Anders Boeck, Lieb, Wolfgang, Degenhardt, Franziska, Forstner, Andreas J., Hofmann, Andreas, Schreiber, Stephan, Mrowietz, Ulrich, Juran, Brian D., Lazaridis, Konstantinos N., Brunak, Søren, Dale, Anders M., Trembath, Richard C., Weidinger, Stephan, Weichenthal, Michael, Ellinghaus, Eva, Elder, James T., Barker, Jonathan N.W.N., Andreassen, Ole A., McGovern, Dermot P., Karlsen, Tom H., Barrett, Jeffrey C., Parkes, Miles, , & Franke, Andre (2016) Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. Nature Genetics, 48(5), pp. 510-518.
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    Fryns syndrome associated with recessive mutations in PIGN in two separate families

    , , Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher P., , , , , Wicking, Carol, & (2016) Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37(7), pp. 695-702.
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    Exome-wide study of ankylosing spondylitis

    Robinson, Philip C., Leo, Paul J., Pointon, Jennifer J., , Cremin, Katie, , Stebbings, Simon, , , Evans, David M., Wordsworth, Paul B., & (2016) Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease. Genomic Medicine, 1, Article number-16008.
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    Genetic association of ankylosing spondylitis with TBX21

    , , , , , Thomas, Ranjeny, Thomas, Gethin P., , & (2016) Genetic association of ankylosing spondylitis with TBX21 influences T-bet and pro-inflammatory cytokine expression in humans and SKG mice as a model of spondyloarthritis. Annals of the Rheumatic Diseases, 76(1), pp. 261-269.
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    Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

    , Le Goff, Carine, , , , , Steer, Ruth, Bole-Feysot, Christine, Nitschke, Patrick, Kielty, Cay, , Zankl, Andreas, , & Cormier-Daire, Valerie (2016) Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics, 53(7), pp. 457-464.
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    Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases

    Gregson, Celia L., Wheeler, Lawrie, Hardcastle, Sarah A., Appleton, Louise H., Addison, Kathryn A., Brugmans, Marieke, Clark, Graeme R., Ward, Kate A., Paggiosi, Margaret, Stone, Mike, Thomas, Joegi, Agarwal, Rohan, Poole, Kenneth E.S., McCloskey, Eugene, Fraser, William D., Williams, Eleanor, Bullock, Alex N., Davey Smith, George, , Tobias, Jon H., & (2016) Mutations in known monogenic high bone mass loci only explain a small proportion of high bone mass cases. Journal of Bone and Mineral Research, 31(3), pp. 640-649.
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    Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1

    Cortes, Adrian, Pulit, Sara L., Leo, Paul J., Pointon, Jenny J., Robinson, Philip C., Weisman, Michael H., Ward, Michael, Gensler, Lianne S., Zhou, Xiaodong, Garchon, Henri-Jean, Chiocchia, Gilles, Nossent, Johannes, Lie, Benedicte A., Førre, Øystein, Tuomilehto, Jaakko, Laiho, Kari, , Elewaut, Dirk, Burgos-Vargas, Ruben, Stebbings, Simon, Appleton, Louise, Farrah, Claire, Lau, Jonathan, Haroon, Nigil, Mulero, Juan, Blanco, Francisco J., Gonzalez-Gay, Miguel A., Lopez-Larrea, C, Bowness, Paul, Gaffney, Karl, Gaston, Hill, Gladman, Dafna D., Rahman, Proton, Maksymowych, Walter P., Crusius, J. Bart A., van der Horst-Bruinsma, Irene E., Valle-Oñate, Raphael, Romero-Sánchez, Consuelo, Hansen, Inger Myrnes, Pimentel-Santos, Fernando M., Inman, Robert D., Martin, Javier, Breban, Maxime, Wordsworth, Bryan Paul, Reveille, John D., Evans, David M., de Bakker, Paul I.W., & (2015) Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1. Nature Communications, 6, Article number-7146.
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    Identification of multiple risk variants for ankylosing spondylitis

    Cortes, A., Hadler, J., Pointon, J.P., Robinson, P.C., Karaderi, T., Leo, P., Cremin, K., Pryce, K., Harris, J., Lee, S., Joo, K.B., Shim, S.C., Weisman, M., Ward, M., Zhou, X., Garchon, H.J., Chiocchia, G., Nossent, J., Lie, B.A., Førre, O., Tuomilehto, J., Laiho, K., Jiang, L., Liu, Y., Wu, X., , Elewaut, D., Burgos-Vargas, R., Stebbings, S., Appleton, L., Farrah, C., Lau, J., , Haroon, N., Ferreira, M.A., Yang, J., Mulero, J., Fernandez-Sueiro, J.L., Gonzalez-Gay, M.A., Lopez-Larrea, C., Deloukas, P., Donnelly, P., Bowness, P., Gafney, K., Gaston, H., Gladman, D.D., Rahman, P., Maksymowych, W.P., Xu, H., Crusius, J.B.A., Van Der Horst-Bruinsma, I.E., Chou, C.T., Valle-Oñate, R., Romero-Sánchez, C., Hansen, I.M., Pimentel-Santos, F.M., Inman, R.D., Videm, V., Martin, J., Breban, M., Reveille, J.D., Evans, D.M., Kim, T.H., Wordsworth, B.P., & (2013) Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nature Genetics, 45(7), pp. 730-738.
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    Recent Reviews

    Best practices in DNA methylation: Lessons from inflammatory bowel disease, psoriasis and ankylosing spondylitis

    , , , & (2019) Best practices in DNA methylation: Lessons from inflammatory bowel disease, psoriasis and ankylosing spondylitis. Arthritis Research & Therapy, 21(1), Article number-133.
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      Solving the pathogenesis of ankylosing spondylitis

      (2018) Solving the pathogenesis of ankylosing spondylitis. Clinical Immunology, 186, pp. 46-50.
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      Genetics and the Causes of Ankylosing Spondylitis

      Hanson, Aimee & (2017) Genetics and the causes of ankylosing spondylitis. Rheumatic Disease Clinics of North America, 43(3), pp. 401-414.
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      Genetics of ankylosing spondylitis - Insights into pathogenesis

      , , & Wordsworth, B. Paul (2016) Genetics of ankylosing spondylitis - Insights into pathogenesis. Nature Reviews Rheumatology, 12(2), pp. 81-91.
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      The intestinal microbiome in human disease

      Costello, Mary-Ellen, Robinson, Philip C., Benham, Helen, & (2015) The intestinal microbiome in human disease and how it relates to arthritis and spondyloarthritis. Best Practice and Research: Clinical Rheumatology, 29(2), pp. 202-212.
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