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

Li, Zhixiu, Akar, Servet, Yarkan, Handan, Lee, Candice, Cetin, Pinar, Can, Gerçek, Kenar, Gokce, Capa, Fernur, Pamuk, Omer Nuri, Pehlivan, Yavuz, et al. (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), pp.Article number: e1008038 1-18.
6 citations on Scopus
HLA alleles associated with risk of ankylosing spondylitis and rheumatoid arthritis influence the gut microbiome

Asquith, Mark, Sternes, Peter, Costello, Mary-Ellen, Karstens, Lisa, Diamond, Sarah, Martin, Tammy, Li, Zhixiu, Clout, Mhairi, Spector, Timothy, Le Cao, Kim-Anh, et al. (2019) HLA alleles associated with risk of ankylosing spondylitis and rheumatoid arthritis influence the gut microbiome. Arthritis and Rheumatology, 71 (10), pp.1642-1650.
22 citations on Web of Science
15 citations on Scopus
HLA class I and II alleles in susceptibility to ankylosing spondylitis

Reveille, John, Zhou, Xiaodong, Lee, MinJae, Weisman, Michael, Yi, Lin, Gensler, Lianne, Zou, Hejian, Ward, Michael, Ishimori, Mariko, Learch, Thomas, et al. (2019) HLA class I and II alleles in susceptibility to ankylosing spondylitis. Annals of the Rheumatic Diseases, 78 (1), pp.66-73.
10 citations on Web of Science
10 citations on Scopus
Genetic Variants in ERAP1 and ERAP2 Associated With Immune-Mediated Diseases Influence Protein Expression and the Isoform Profile

Hanson, Aimee, Cuddihy, Thomas, Haynes, Katelin, Loo, Dorothy, Morton, Craig, Oppermann, Udo, Leo, Paul, Thomas, Gethin, Le Cao, Kim-Anh, Kenna, Tony, et al. (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.
22 citations on Web of Science
18 citations on Scopus
CDKN2A mutations causing familial melanoma and astrocytoma

McInerney-Leo, Aideen, Wheeler, Lawrie, Sturm, Richard, Tan, Jean-Marie, Harris, Jessica, Anderson, Lisa, Jagirdar, Kasturee, Brown, Matt, Leo, Paul, Soyer, H. Peter, et al. (2018) Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma. British Journal of Dermatology, 178 (4), pp.e263-e264.
citations on Web of Science
citations on Scopus
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, Newell, Felicity, Leo, Paul, Clark, Graeme, Paternoster, Lavinia, Clout, Mhairi, Forgetta, Vincenzo, Morris, John, Ge, Bing, Bao, Xiao, et al. (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.
7 citations on Web of Science
8 citations on Scopus
HLA and KIR Associations of Cervical Neoplasia.

Bao, Xiao, Hanson, Aimee, Madeleine, Margaret, Wang, Sophia, Schwartz, Stephen, Newell, Felicity, Pettersson-Kymmer, Ulrika, Hemminki, Kari, Tiews, Sven, Steinberg, Winfried, et al. (2018) HLA and KIR associations of cervical neoplasia. Journal of Infectious Diseases, 218 (12), pp.2003-2015.
5 citations on Web of Science
4 citations on Scopus
Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis

Cortes, Adrian, Gladman, Dafna, Raychaudhuri, Soumya, Cui, Jing, Wheeler, Lawrie, Brown, Matt (2018) Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis. Annals of the Rheumatic Diseases, 77 (11), pp.1691-1692.
6 citations on Web of Science
5 citations on Scopus
Genome-wide association study in Guillain-Barré syndrome

Blum, Stefan, Ji, Ying, Pennisi, David, Li, Zhixiu, Leo, Paul, McCombe, Pamela, Brown, Matt (2018) Genome-wide association study in Guillain-Barré syndrome. Journal of Neuroimmunology, 323, pp.109-114.
3 citations on Web of Science
3 citations on Scopus
The genetic susceptibility to cervical neoplasia

Leo, Paul, Madeleine, Margaret, Wang, Sophia, Schwartz, Stephen, Newell, Felicity, Brown, Matt, other, and (2017) Defining the genetic susceptibility to cervical neoplasia: A genome-wide association study. PLoS Genetics, 13 (8), pp.Article number: e1006866 1-20.
28 citations on Web of Science
28 citations on Scopus
Epigenetic and gene expression analysis of ankylosing spondylitis-associated loci

Li, Zhixiu, Haynes, Katelin, Pennisi, David, Anderson, Lisa, Song, Xiaoxia, Thomas, Gethin, Kenna, Tony, Leo, Paul, Brown, Matt (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 (3), pp.135-143.
11 citations on Web of Science
12 citations on Scopus
Genetic association of ankylosing spondylitis with TBX21

Lau, Max, Keith, Patricia, Costello, Mary-Ellen, Bradbury, Linda, Hollis, Kelly, Thomas, Ranjeny, Thomas, Gethin, Brown, Matt, Kenna, Tony (2017) 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.
16 citations on Web of Science
15 citations on Scopus
Homozygous variant in C21orf2 in a case of Jeune syndrome

McInerney-Leo, Aideen, Wheeler, Lawrie, Marshall, Mhairi, Anderson, Lisa, Zankl, Andreas, Brown, Matt, Leo, Paul, Wicking, Carol, Duncan, Emma (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, 173 (6), pp.1698-1704.
4 citations on Web of Science
4 citations on Scopus
Transcriptome Analysis of Ankylosing Spondylitis Patients Before and After TNF-α Inhibitor Therapy

Wang, Xiaobing, Ellis, Jonathan, Pennisi, David, Song, Sharon, Batra, Jyotsna, Hollis, Kelly, Bradbury, Linda, Li, Zhixiu, Kenna, Tony, Brown, Matt (2017) Transcriptome Analysis of Ankylosing Spondylitis Patients Before and After TNF-α Inhibitor Therapy Reveals the Pathways Affected. Genes and Immunity, 18, pp.184-190.
10 citations on Web of Science
10 citations on Scopus
NAD Deficiency, Congenital Malformations, and Niacin Supplementation

Shi, Hongjun, Enriquez, Annabelle, Rapadas, Melissa, Martin, Ella, Wang, Roni, McInerney-Leo, Aideen, Leo, Paul, Brown, Matt, Duncan, Emma, other, and (2017) NAD deficiency, congenital malformations, and niacin supplementation. The New England Journal of Medicine, 377 (6), pp.544-552.
58 citations on Web of Science
56 citations on Scopus
Analysis of five chronic inflammatory diseases identifies 27 new associations

Ellinghaus, David, Jostins, Luke, Spain, Sarah, Cortes, Adrian, Bethune, Jorn, Brown, Matt, other, and (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.
229 citations on Web of Science
215 citations on Scopus
Fryns syndrome associated with recessive mutations in PIGN in two separate families

McInerney-Leo, Aideen, Harris, Jessica, Gattas, Michael, Peach, Elizabeth, Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher, Wheeler, Lawrie, Anderson, Lisa, et al. (2016) Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37 (7), pp.695-702.
19 citations on Web of Science
21 citations on Scopus
Exome-wide study of ankylosing spondylitis

Robinson, Philip, Leo, Paul, Pointon, Jennifer, Harris, Jessica, Cremin, Katie, Bradbury, Linda, Stebbings, Simon, Harrison, Andrew, Duncan, Emma, Evans, David, et al. (2016) Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease. npj Genomic Medicine, 1, pp.Article number: 16008 1-6.
12 citations on Web of Science
9 citations on Scopus
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

McInerney-Leo, Aideen, Le Goff, Carine, Leo, Paul, Kenna, Tony, Keith, Patricia, Harris, Jessica, Steer, Ruth, Bole-Feysot, Christine, Nitschke, Patrick, Kielty, Cay, et al. (2016) Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics, 53 (7), pp.457-464.
18 citations on Web of Science
15 citations on Scopus
Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases

Gregson, Celia, Wheeler, Lawrie, Hardcastle, Sarah, Appleton, Louise, Addison, Kathryn, Brugmans, Marieke, Clark, Graeme, Ward, Kate, Paggiosi, Margaret, Stone, Mike, et al. (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.
16 citations on Web of Science
17 citations on Scopus
Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1

Cortes, Adrian, Pulit, Sara, Leo, Paul, Pointon, Jennifer, Robinson, Philip, Weisman, Michael, Ward, Michael, Gensler, Lianne, Zhou, Xiaodong, Brown, Matthew, et al. (2015) Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1. Nature Communications, 6, pp.Article number: 7146 1-8.
115 citations on Web of Science
110 citations on Scopus
Identification of multiple risk variants for ankylosing spondylitis

Cortes, Adrian, Hadler, Johanna, Pointon, Jennifer, Robinson, Philip, Karaderi, Tugce, Leo, Paul, Cremin, Katie, Pryce, Karena, Harris, Jessica, Brown, Matthew, et al. (2013) Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nature Genetics, 45 (7), pp.730-738.
405 citations on Web of Science
408 citations on Scopus
Recent Reviews
Best practices in DNA methylation: Lessons from inflammatory bowel disease, psoriasis and ankylosing spondylitis

Whyte, Jessica, Ellis, Jonathan, Brown, Matt, Kenna, Tony (2019) Best practices in DNA methylation: Lessons from inflammatory bowel disease, psoriasis and ankylosing spondylitis. Arthritis Research and Therapy, 21 (1), pp.Article number: 133 1-14.
7 citations on Scopus
Solving the pathogenesis of ankylosing spondylitis

Brown, Matt (2018) Solving the pathogenesis of ankylosing spondylitis. Clinical Immunology, 186, pp.46-50.
4 citations on Web of Science
3 citations on Scopus
Genetics and the Causes of Ankylosing Spondylitis

Hanson, Aimee, Brown, Matt (2017) Genetics and the causes of ankylosing spondylitis. Rheumatic Disease Clinics of North America, 43 (3), pp.401-414.
24 citations on Web of Science
24 citations on Scopus
Genetics of ankylosing spondylitis - Insights into pathogenesis

Brown, Matthew, Kenna, Tony, Wordsworth, Paul (B.P.) (2016) Genetics of ankylosing spondylitis - Insights into pathogenesis. Nature Reviews Rheumatology, 12 (2), pp.81-91.
120 citations on Web of Science
118 citations on Scopus
The intestinal microbiome in human disease

Costello, Mary-Ellen, Robinson, Philip, Benham, Helen, Brown, Matthew (2015) The intestinal microbiome in human disease and how it relates to arthritis and spondyloarthritis. Best Practice and Research in Clinical Rheumatology, 29 (2), pp.202-212.
13 citations on Web of Science
12 citations on Scopus