Publications

Recent and Notable Publications

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.
View on ePrints

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)
View on ePrints

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.
View on ePrints

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.
View on ePrints

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.
View on ePrints

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.
View on ePrints

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)
View on ePrints

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.
View on ePrints

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.
View on ePrints

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.
View on ePrints

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.
View on ePrints

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.
View on ePrints

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.
View on ePrints

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.
View on ePrints

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.
View on ePrints

Recent Reviews

Solving the pathogenesis of ankylosing spondylitis

(2018) Solving the pathogenesis of ankylosing spondylitis. Clinical Immunology, 186, pp. 46-50.
View on ePrints

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.
View on ePrints

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.
View on ePrints

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.
View on ePrints