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DateNumber of items: 359.
Book Chapter
Duncan, Emma L. & Brown, Matthew A.
(2018)
Genome-wide association studies.
In
Thakker, Rajesh V., Whyte, Michael, Eisman, John A., & Igarashi, Takashi (Eds.) Genetics of Bone Biology and Skeletal Disease [2nd Ed.].
Elsevier, pp. 33-41.
van der Linden, Sjef, Brown, Matthew, Kenna, Tony, Maksymowych, Walter, & Robinson, Philip
(2017)
Ankylosing spondylitis.
In
Firestein, Gary S., Budd, Ralph C., Gabriel, Sherine E., McInnes, Iain B., & O'Dell, James R. (Eds.) Kelley and Firestein's Textbook of Rheumatology [10th Ed.].
Elsevier, Philadelphia, PA, 1256-1279.e5.
Duncan, Emma L. & Brown, Matthew A.
(2013)
Genome-wide association studies.
In
Thakker, Rajesh V., Whyte, Michael P., Eisman, John A., & Igarashi, Takashi (Eds.) Genetics of Bone Biology and Skeletal Disease.
Elsevier, Toyko, pp. 93-100.
Reveille, John D. & Brown, Matthew A.
(2006)
The Pathogenesis of Ankylosing Spondylitis.
In
Weisman, Michael H., van der Heijde, Desiree, & Reveille, John D. (Eds.) Ankylosing Spondylitis and the Spondyloarthropathies.
Elsevier, pp. 21-37.
5
Journal Article
Asquith, Mark, Sternes, Peter R., Costello, Mary‐Ellen, Karstens, Lisa, Diamond, Sarah, Martin, Tammy M., et al.
(2019)
HLA alleles associated with risk of ankylosing spondylitis and rheumatoid arthritis influence the gut microbiome.
Arthritis & Rheumatology, 71(10), pp. 1642-1650.
2
Periyasamy, Sathish, John, Sujit, Padmavati, Raman, Rajendren, Preeti, Thirunavukkarasu, Priyadarshini, Gratten, Jacob, et al.
(2019)
Association of schizophrenia risk with disordered niacin metabolism in an Indian Genome-wide association study.
JAMA Psychiatry.
(In Press)
7
1
Gorvin, Caroline M., Ahmad, Bushra N., Stechman, Michael J., Loh, Nellie Y., Hough, Tertius A., Leo, Paul, et al.
(2019)
An N-ethyl-N-nitrosourea (ENU)-induced Tyr265Stop mutation of the DNA polymerase accessory subunit gamma 2 (Polg2) is associated with renal calcification in mice.
Journal of Bone and Mineral Research, 34(3), pp. 497-507.
13
González-Serna, David, López-Isac, Elena, Yilmaz, Neslihan, Gharibdoost, Farhad, Jamshidi, Ahmadreza, Kavosi, Hoda, et al.
(2019)
Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study.
Rheumatology, 58(2), pp. 289-298.
2
2
Johnson, Stephanie R., Ellis, Jonathan J., Leo, Paul J., Anderson, Lisa K., Ganti, Uma, Harris, Jessica E., et al.
(2019)
Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.
Pediatric Diabetes, 20(1), pp. 57-64.
2
2
Reveille, John D., Zhou, Xiaodong, Lee, MinJae, Weisman, Michael H., Yi, Lin, Gensler, Lianne S., et al.
(2019)
HLA class I and II alleles in susceptibility to ankylosing spondylitis.
Annals of the Rheumatic Diseases, 78(1), pp. 66-73.
Whyte, Jessica M., Ellis, Jonathan J., Brown, Matthew A., & Kenna, Tony J.
(2019)
Best practices in DNA methylation: Lessons from inflammatory bowel disease, psoriasis and ankylosing spondylitis.
Arthritis Research & Therapy, 21(1), Article number-133.
Li, Zhixiu, Akar, Servet, Yarkan, Handan, Lee, Sau Kuen, Cetin, Pinar, Can, Gercek, 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), Article number- e1008038.
5
Gregson, Celia L., Newell, Felicity, Leo, Paul J., Clark, Graeme R., Paternoster, Lavinia, Marshall, Mhairi, 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.
Brown, Matthew A., Bird, Paul A., Robinson, Philip C., Mease, Philip J., van den Bosch, Filip, Surian, Christine, et al.
(2018)
Evaluation of the effect of baseline MRI sacroiliitis and C reactive protein status on etanercept treatment response in non-radiographic axial spondyloarthritis: a post hoc analysis of the EMBARK study.
Annals of the Rheumatic Diseases (ARD), 77(7), pp. 1090-1093.
Roberts, Rebecca L., Wallace, Mary C., Harrison, Andrew A., White, Douglas, Dalbeth, Nicola, Stamp, Lisa K., et al.
(2018)
Association of Crohn’s disease-related chromosome 1q32 with ankylosing spondylitis is independent of bowel symptoms and faecal calprotectin.
PeerJ, 6(e5088).
2
Esapa, Christopher T., Piret, Sian E., Nesbit, M. Andrew, Thomas, Gethin P., Coulton, Leslie A., Gallagher, Orla M., et al.
(2018)
An N-ethyl-N-nitrosourea (ENU) mutagenized mouse model for autosomal dominant nonsyndromic kyphoscoliosis due to vertebral fusion.
JBMR Plus, 2(3), pp. 154-163.
3
Dau, Jonathan D., Lee, MinJae, Ward, Michael M., Gensler, Lianne S., Brown, Matthew A., Learch, Thomas J., et al.
(2018)
Opioid analgesic use in patients with ankylosing spondylitis: An analysis of the prospective study of outcomes in an ankylosing spondylitis cohort.
Journal of Rheumatology, 45(2), pp. 188-194.
Hanson, Aimee L., Cuddihy, Thomas, Haynes, Katelin, Loo, Dorothy, Morton, Craig J., Oppermann, Udo, 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.
Johnson, Stephanie R., Leo, Paul, Conwell, Louise S., Harris, Mark, Brown, Matthew A., & Duncan, Emma L.
(2018)
Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family.
Journal of Diabetes, 10(9), pp. 764-767.
2
2
Mullaney, Jane A., Stephens, Juliette E., Costello, Mary-Ellen, Fong, Cai, Geeling, Brooke E., Gavin, Patrick G., et al.
(2018)
Correction to: Type 1 diabetes susceptibility alleles are associated with distinct alterations in the gut microbiota.
Microbiome, 6, Article number-51.
Leo, Paul J., Madeleine, Margaret M., Wang, Sophia, Schwartz, Stephen M., Newell, Felicity, Pettersson-Kymmer, Ulrika, et al.
(2018)
Correction: Defining the genetic susceptibility to cervical neoplasia—A genome-wide association study.
PLoS Genetics, 14(3), e1007257-e1007257.
1
Bradbury, Linda A., Hollis, Kelly A., Gautier, Benoît, Shankaranarayana, Sateesh, Robinson, Philip C., Saad, Nivene, et al.
(2018)
Diffusion-weighted imaging is a sensitive and specific magnetic resonance sequence in the diagnosis of ankylosing spondylitis.
The Journal of Rheumatology, 45(6), pp. 771-778.
9
9
Vecellio, Matteo, Cortes, Adrian, Roberts, Amity R., Ellis, Jonathan, Cohen, Carla Jayne, Knight, Julian C., et al.
(2018)
Evidence for a second ankylosing spondylitis-associated RUNX3 regulatory polymorphism.
RMD Open, 4(1), Article number-e000628.
Mantick, Neal, Bachman, Eric, Baujat, Genevieve, Brown, Matthew, Collins, Oliver, De Cunto, Carmen, et al.
(2018)
The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.
Bone, 109, pp. 285-290.
1
Graham, Patricia S., Kaidonis, Georgia, Abhary, Sotoodeh, Gillies, Mark C., Daniell, Mark, Essex, Rohan W., et al.
(2018)
Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.
BMC Medical Genetics, 19, Article number-71.
Blum, Stefan, Ji, Ying, Pennisi, David, Li, Zhixiu, Leo, Paul, McCombe, Pamela, et al.
(2018)
Genome-wide association study in Guillain-Barré syndrome.
Journal of Neuroimmunology, 323, pp. 109-114.
6
Rahbar, Mohammad H., Lee, MinJae, Hessabi, Manouchehr, Tahanan, Amirali, Brown, Matthew A., Learch, Thomas J., et al.
(2018)
Harmonization, data management, and statistical issues related to prospective multicenter studies in Ankylosing spondylitis (AS): Experience from the Prospective Study Of Ankylosing Spondylitis (PSOAS) cohort.
Contemporary Clinical Trials Communications, 11, pp. 127-135.
24
Bao, Xiao, Hanson, Aimee L., Madeleine, Margaret M., Wang, Sophia S., Schwartz, Stephen M., Newell, Felicity, et al.
(2018)
HLA and KIR associations of cervical neoplasia.
Journal of Infectious Diseases, 218(12), pp. 2006-2015.
2
2
Alonso, Nerea, Estrada, Karol, Albagha, Omar M.E., Herrera, Lizbeth, Reppe, Sjur, Olstad, Ole K., et al.
(2018)
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.
Annals of the Rheumatic Diseases, 77(3), pp. 378-385.
Cortes, Adrian, Gladman, Dafna, Raychaudhuri, Soumya, Cui, Jing, Wheeler, Lawrie, & Brown, Matthew A.
(2018)
Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis.
Annals of the Rheumatic Diseases, 77(11), pp. 1691-1692.
De Smit, Elisabeth, Lukowski, Samuel W., Anderson, Lisa, Senabouth, Anne, Dauyey, Kaisar, Song, Sharon, et al.
(2018)
Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis.
BMC Medical Genomics, 11(1).
Lee, MinJae, Rahbar, Mohammad H., Brown, Matthew A., Gensler, Lianne, Weisman, Michael, Diekman, Laura, et al.
(2018)
A multiple imputation method based on weighted quantile regression models for longitudinal censored biomarker data with missing values at early visits.
BMC Medical Research Methodology, 18, Article number-8.
Santos, Margarida Rodrigues, Couto, Ana Rita, Foroni, Iris, Bettencourt, Bruno Filipe, Li, Zhixiu, Meneses, Raquel, et al.
(2018)
Non-classical human leucocyte antigens in ankylosing spondylitis: Possible association with HLA-E and HLA-F.
RMD Open, 4(1), Article number-e000677.
Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., et al.
(2018)
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
Nature Communications, 9, Article number-4774.
McInerney-Leo, A.M., Wheeler, L., Sturm, R.A., Tan, J.-M., Harris, J.E., Anderson, L.K., et al.
(2018)
Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma.
British Journal Of Dermatology.
(In Press)
Maung, Kyaw Ze Ya, Leo, Paul J., Bassal, Mahmoud, Casolari, Debora A., Gray, James X., Bray, Sarah C., et al.
(2018)
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Blood Cancer Journal, 8, Article number-50.
Hsiao, Edward C., Di Rocco, Maja, Cali, Amanda, Zasloff, Michael, Al Mukaddam, Mona, Pignolo, Robert J., et al.
(2018)
Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP).
British Journal of Clinical Pharmacology.
(In Press)
Mullaney, Jane A., Stephens, Juliette E., Costello, Mary-Ellen, Fong, Cai, Geeling, Brooke E., Gavin, Patrick G., et al.
(2018)
Type 1 diabetes susceptibility alleles are associated with distinct alterations in the gut microbiota.
Microbiome, 6, Article number-35.
Visscher, Peter M., Wray, Naomi R., Zhang, Qian, Sklar, Pamela, McCarthy, Mark I., Brown, Matthew A., et al.
(2017)
10 Years of GWAS Discovery: Biology, Function, and Translation.
American Journal of Human Genetics, 101(1), pp. 5-22.
466
435
Li, Z., Haynes, K., Pennisi, D.J., Anderson, L.K., Song, X., Thomas, G.P., et al.
(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.
9
8
Yin, Jian, He, Dongyi, Jiang, Lei, Cheng, Fang, Guo, Qian, Huang, Shaolan, et al.
(2017)
Influence of cigarette smoking on rheumatoid arthritis risk in the Han Chinese population.
Frontiers in Medicine, 4, Article number-76.
McInerney-Leo, Aideen M., Wheeler, Lawrie, Marshall, Mhairi S., Anderson, Lisa K., Zankl, Andreas, Brown, Matthew A., et al.
(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.
4
4
Roberts, Amity R., Appleton, Louise H., Cortes, Adrian, Vecellio, Matteo, Lau, Jonathan, Brown, Matthew A., et al.
(2017)
ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations.
Proceedings of the National Academy of Sciences of the United States of America (PNAS) ISSN 1091-6490, 114(3), pp. 558-561.
12
14
Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul, et al.
(2017)
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
Nature Communications, 8, p. 611.
Bowes, John, Ashcroft, James, Dand, Nick, Jalali-Najafabadi, Fariedh, Bellou, Eftychia, Ho, Pauline, et al.
(2017)
Cross-phenotype association mapping of the MHC identifies genetic variants that differentiate psoriatic arthritis from psoriasis.
Annals of the Rheumatic Diseases (ARD), 76(10), pp. 1774-1779.
Leo, Paul J., Madeleine, Margaret M., Wang, Sophia, Schwartz, Stephen M., Newell, Felicity, Kymmer, Ulrika, et al.
(2017)
Defining the genetic susceptibility to cervical neoplasia: A genome-wide association study.
PLoS Genetics, 13(8), e1006866.
Tseng, Hsu-Wen, Glant, Tibor T., Brown, Matthew A., Kenna, Tony J., Thomas, Gethin P., & Pettit, Allison R.
(2017)
Early anti-inflammatory intervention ameliorates axial disease in the proteoglycan-induced spondylitis mouse model of ankylosing spondylitis.
BMC Musculoskeletal Disorders, 18, Article number-228.
Jamalyaria, Farokh, Ward, Michael, Assassi, Shervin, Learch, Thomas, Lee, MinJae, Gensler, Lianne, et al.
(2017)
Ethnicity and disease severity in ankylosing spondylitis a cross-sectional analysis of three ethnic groups.
Clinical Rheumatology, 36(10), pp. 2359-2364.
3
4
Thomas, G.P., Willner, D., Robinson, P.C., Cortes, A., Duan, R., Rudwaleit, M., et al.
(2017)
Genetic diagnostic profiling in axial spondyloarthritis: a real world study.
Clinical and Experimental Rheumatology, 35(2), 0229-0233.
9
Bukhari, Wajih, Prain, Kerri, Waters, Patrick, Woodhall, Mark, O'Gorman, Cullen, Clarke, Laura, et al.
(2017)
Incidence and prevalence of NMOSD in Australia and New Zealand.
Journal of Neurology, Neurosurgery and Psychiatry, 88(8), pp. 632-638.
15
14
Di Rocco, Maja, Bertamino, Marta, Brown, Matt, De Cunto, Carmen, Delai, Patricia, Eekhoff, Elisabeth, et al.
(2017)
International physician survey on management of FOP: A modified Delphi study.
Orphanet Journal of Rare Diseases, 12(1), pp. 1-5.
3
2
Shi, Hongjun, Enriquez, Annabelle, Rapadas, Melissa, Martin, Ella M.M.A., Wang, Roni, Moreau, Julie, et al.
(2017)
NAD deficiency, congenital malformations, and niacin supplementation.
New England Journal of Medicine, 377(6), pp. 544-552.
Lucas, Sionne, Zhou, Tiger, Blackburn, Nicholas, Mills, Richard, Ellis, Jonathan, Leo, Paul, et al.
(2017)
Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent.
Investigative Ophthalmology and Visual Science, 58(14), pp. 6248-6256.
4
4
Yang, Xinyu, Lin, Ke, Ni, Shanmin, Wang, Jianmin, Tian, Qingqing, Chen, Huaijun, et al.
(2017)
Serum connective tissue growth factor is a highly discriminatory biomarker for the diagnosis of rheumatoid arthritis.
Arthritis Research and Therapy, 19, pp. 1-9.
4
3
Wang, Xiaobing, Ellis, Jonathan, Pennisi, David J., Song, Xiaoxia, Batra, Jyotsna, Hollis, Kelly, et al.
(2017)
Transcriptome Analysis of Ankylosing Spondylitis Patients Before and After TNF-α Inhibitor Therapy Reveals the Pathways Affected.
Genes and Immunity, 18(3), pp. 184-190.
5
6
Gratten, Jake, Zhao, Qiongyi, Benyamin, Beben, Garton, Fleur, He, Ji, Leo, Paul, et al.
(2017)
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.
Genome Medicine, 9, pp. 1-9.
4
3
Truong, Steven L., Saad, Nivene F., Robinson, Philip C., Cowderoy, Greg, Lim, Irwin, Schachna, Lionel, et al.
(2016)
Consensus statements on the imaging of axial spondyloarthritis in Australia and New Zealand.
Journal of Medical Imaging and Radiation Oncology, 61(1), pp. 58-69.
2
4
Okada, Y., Suzuki, A., Ikari, K., Terao, C., Kochi, Y., Ohmura, K., et al.
(2016)
Contribution of a non-classical HLA gene, HLA-DOA, to the risk of rheumatoid arthritis.
The American Journal of Human Genetics, 99(2), pp. 366-374.
27
26
McInerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, et al.
(2016)
Fryns syndrome associated with recessive mutations in PIGN in two separate families.
Human Mutation, 37(7), pp. 695-702.
16
15
Bodea, C. A., Neale, B. M., Ripke, S., Barclay, M., Peyrin-Biroulet, L., Chamaillard, M., et al.
(2016)
A method to exploit the structure of genetic ancestry space to enhance case-control studies.
American Journal of Human Genetics, 98(5), pp. 857-868.
4
4
Cortes, Claudio R., McInerney-Leo, Aideen M., Vogel, Ida, Rondon Galeano, Maria C., Leo, Paul J., Harris, Jessica E., et al.
(2016)
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.
Scientific Reports, 6, Article Number-24083.
McInerney-Leo, Aideen M., Le Goff, Carine, Leo, Paul J., Kenna, Tony J., Keith, Patricia, Harris, Jessica E., et al.
(2016)
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
Journal of Medical Genetics, 53(7), pp. 457-464.
12
11
Lester, Susan, Hewitt, Alex W, Ruediger, Carlee D, Bradbury, Linda, De Smit, Elisabeth, Wiese, Michael D, et al.
(2016)
PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis.
RMD Open, 2(1), e000246.
Ellinghaus, David, Jostins, Luke, Spain, Sarah L., Cortes, Adrian, Bethune, Jörn, Han, Buhm, et al.
(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.
Binder, M. D., Fox, A. D., Merlo, D., Johnson, L. J., Giuffrida, L., Calvert, S. E., et al.
(2016)
Common and low frequency variants in MERTK are independently associated with Multiple Sclerosis susceptibility with discordant association dependent upon HLA-DRB1*15:01 status.
PLoS ONE, 12(3), e1005853.
Gregson, Celia L., Wheeler, Lawrie, Hardcastle, Sarah A., Appleton, Louise H., Addison, Kathryn A., Brugmans, Marieke, 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.
Niu, Tianhua, Liu, Ning, Yu, Xun, Zhao, Ming, Choi, Hyung Jin, Leo, Paul J., et al.
(2016)
Identification of IDUA and WNT16 phosphorylation-related non-synonymous polymorphisms for bone mineral density in meta-analyses of genome-wide association studies.
Journal of Bone and Mineral Research, 31(2), pp. 358-368.
Robinson, P.C., Leo, P.J., Pointon, J.J., Harris, J., Cremin, K., Bradbury, L.A., et al.
(2016)
The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis.
Genes and Immunity, 17(1), pp. 46-51.
12
12
Robinson, Philip C., Leo, Paul J., Pointon, Jennifer J., Harris, Jessica, Cremin, Katie, Bradbury, Linda A., et al.
(2016)
Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease.
Genomic Medicine, 1, Article number-16008.
Lau, Max C., Keith, Patricia, Costello, Mary-Ellen, Bradbury, Linda, Hollis, Kelly A., Thomas, Ranjeny, et al.
(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.
12
11
Tseng, Hsu-Wen, Pitt, Miranda E., Glant, Tibor T., McRae, Allan F., Kenna, Tony J., Brown, Matthew A., et al.
(2016)
Inflammation-driven bone formation in a mouse model of ankylosing spondylitis: Sequential not parallel processes.
Arthritis Research & Therapy, 18, Article Number: 35.
Esapa, Christopher T., Piret, Sian E., Nesbit, M. Andrew, Loh, Nellie Y., Thomas, Gethin P., Croucher, Peter I., et al.
(2016)
Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.
PLOS ONE, 11(12).
Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, et al.
(2016)
Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia.
The American Journal of Human Genetics, 99(2), pp. 392-406.
15
15
Rautanen, Anna, Pirinen, Matti, Mills, Tara C., Rockett, Kirk A., Strange, Amy, Ndungu, Anne W., et al.
(2016)
Polymorphism in a lincRNA associates with a doubled risk of pneumococcal bacteremia in Kenyan children.
American Journal of Human Genetics, 98(6), pp. 1092-1100.
Zhou, Tiger, Souzeau, E., Sharma, S, Siggs, O.M., Goldberg, I., Healey, PR, et al.
(2016)
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma., 4(6), pp. 624-633.
Wang, Yunpeng, Reppe, Sjur, Thompson, Wesley K., McEvoy, Linda K., Schork, Andrew J., Zuber, Verena, et al.
(2015)
Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci.
PLOS ONE, 10(12), e0144531-e0144531.
Haynes, KR, Tseng, HW, Kneissel, M, Glant, T. T., Brown, Matthew A., & Thomas, G. P.
(2015)
Treatment of a mouse model of ankylosing spondylitis with exogenous sclerostin has no effect on disease progression.
BMC Musculoskeletal Disorders.
Burdon, Kathryn P., Fogarty, Rhys D., Shen, Weiyong, Abhary, Sotoodeh, Kaidonis, Georgia, Appukuttan, Binoy, et al.
(2015)
Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene.
Diabetologia, 58(10), pp. 2288-2297.
30
30
Van de Bunt, Martijn, Cortes, Adrian, Brown, Matthew A., Morris, Andrew P., & McCarthy, Mark I.
(2015)
Evaluating the performance of fine-mapping strategies at common variant GWAS loci.
PLoS Genetics, 11(9), e1005535.
Cuellar-Partida, Gabriel, Springelkamp, Henriët, Lucas, Sionne E. M., Yazar, Seyhan, Hewitt, Alex W., Iglesias, Adriana I., et al.
(2015)
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness.
Human Molecular Genetics, 24(17), pp. 5060-5068.
22
21
van der Linden, S., Akkoc, N., Brown, M.A., Robinson, P.C., & Khan, M.A.
(2015)
The ASAS criteria for axial spondyloarthritis: Strengths, weaknesses, and proposals for a way forward.
Current Rheumatology Reports, 17(9).
16
20
He, Ji, Tang, Lu, Benyamin, Beben, Shah, Sonia, Hemani, Gib, Liu, Rong, et al.
(2015)
C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.
Neurobiology of Aging, 36(9), 2660.e1-2660.e8.
Cortes, A., Maksymowych, W. P., Wordsworth, B. P., Inman, R. D., Danoy, P., Rahman, P., et al.
(2015)
Association study of genes related to bone formation and resorption and the extent of radiographic change in ankylosing spondylitis.
Annals of the Rheumatic Diseases, 74(7), pp. 1387-1393.
McInerney-Leo, A. M., Duncan, E. L., Leo, P. J., Gardiner, B., Bradbury, L. A., Harris, J. E., et al.
(2015)
COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: A new cause of gnathodiaphyseal dysplasia?
Clinical Genetics, 88(1), pp. 49-55.
10
7
Field, J., Shahijanian, F., Schibeci, S., Johnson, L., Gresle, M., Laverick, L., et al.
(2015)
The MS risk allele of CD40 is associated with reduced cell-membrane bound expression in antigen presenting cells: Implications for gene function.
PLoS ONE, 10(6), e0127080.
Cortes, Adrian, Pulit, Sara L., Leo, Paul J., Pointon, Jenny J., Robinson, Philip C., Weisman, Michael H., et al.
(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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86
Bowes, J., Loehr, S, Badu-Aggrey, A, Uebe, S, Bruce, IN, Feletar, M., et al.
(2015)
PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus.
Annals of the Rheumatic Diseases, 74(10).
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Newton, J., Brown, Matthew A., Milicic, A., Ackerman, H., Darke, C., Wilson, J. N., et al.
(2003)
The effect of HLA-DR on susceptibility to rheumatoid arthritis is influenced by the associated lymphotoxin α-tumor necrosis factor haplotype.
Arthritis and Rheumatism, 48(1), pp. 90-96.
44
45
Brown, Matthew A., Brophy, S., Bradbury, L., Hamersma, J., Timms, A., Laval, S., et al.
(2003)
Identification of major loci controlling clinical manifestations of ankylosing spondylitis.
Arthritis and Rheumatism, 48(8), pp. 2234-2239.
66
59
Goedecke, V., Crane, A. M., Jaakkola, E., Kaluza, W., Laiho, K., Weeks, D. E., et al.
(2003)
Interleukin 10 polymorphisms in ankylosing spondylitis.
Genes and Immunity, 4(1), pp. 74-76.
25
20
Timms, A. E., Zhang, Y., Bradbury, L., Wordsworth, B. P., & Brown, M. A.
(2003)
Investigation of the role of ANKH in ankylosing spondylitis.
Arthritis and Rheumatism, 48(10), pp. 2898-2902.
53
47
Harney, S., Newton, J., Milicic, A., Brown, M. A., & Wordsworth, B. P.
(2003)
Non-inherited maternal HLA alleles are associated with rheumatoid arthritis.
Rheumatology, 42(1), pp. 171-174.
36
31
Jevon, M., Hirayama, T., Brown, M. A., Wass, J. A. H., Sabokbar, A., Ostelere, S., et al.
(2003)
Osteoclast formation from circulating precursors in osteoporosis.
Scandinavian Journal of Rheumatology, 32(2), pp. 95-100.
20
23
Duncan, Emma L., Cardon, Lon R., Sinsheimer, Janet S., Wass, John A.H., & Brown, Matthew A.
(2003)
Site and gender specificity of inheritance of bone mineral density.
Journal of Bone and Mineral Research, 18(8), pp. 1531-1538.
91
80
Wynne, F., Drummond, F. J., Daly, M., Brown, M.A., Shanahan, F., Molloy, M. G., et al.
(2003)
Suggestive linkage of 2p22-25 and 11q12-13 with low bone mineral density at the lumbar spine in the Irish population.
Calcified Tissue International, 72(6), pp. 651-658.
31
31
Milicic, A., Misra, R., Agrawal, S., Aggarwal, A., Brown, M A, & Wordsworth, B. P.
(2002)
The F158V polymorphism in FcγRIIIA shows disparate associations with rheumatoid arthritis in two genetically distinct populations.
Annals of the Rheumatic Diseases, 61(11), pp. 1021-1023.
22
24
Williams, C. J., Zhang, Y., Timms, A., Bonavita, G., Caeiro, F., Broxholme, J., et al.
(2002)
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
American Journal of Human Genetics, 71(4), pp. 985-991.
90
74
Timms, A. E., Sathananthan, R., Bradbury, L.A., Athanasou, N. A., & Brown, M A
(2002)
Genetic testing for haemochromatosis in patients with chondrocalcinosis.
Annals of the Rheumatic Diseases, 61(8), pp. 745-747.
Milicic, A., Lee, D., Brown, M. A., Darke, C., & Wordsworth, B. P.
(2002)
HLA-DR/DQ haplotype in rheumatoid arthritis: Novel allelic associations in UK Caucasians.
Journal of Rheumatology, 29(9), pp. 1821-1826.
29
26
Brown, M A, Crane, A. M., Wordsworth, B. P., Said-Nahal, R., Miceli-Richard, C., & Breban, M.
(2002)
Matters Arising: Role of HLA genes in familial spondyloarthropathy.
Annals of the Rheumatic Diseases, 61(8), pp. 764-765.
1
2
Crane, A.M., Bradbury, L.A., Van Heel, D.A., McGovern, D.P.B., Brophy, S., Rubin, L., et al.
(2002)
Role of NOD2 variants in spondylarthritis.
Arthritis and Rheumatism, 46(6), pp. 1629-1633.
78
67
MacKay, K., Eyre, S., Myerscough, A., Milicic, A., Barton, A., Laval, S., et al.
(2002)
Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom.
Arthritis and Rheumatism, 46(3), pp. 632-639.
174
150
Brown, Matthew A., Haughton, M. A., Grant, S. F. A., Gunnell, A. S., Henderson, N. K., & Eisman, J. A.
(2001)
Genetic control of bone density and turnover: Role of the collagen 1α1, estrogen receptor, and vitamin D receptor genes.
Journal of Bone and Mineral Research, 16(4), pp. 758-764.
87
68
Laval, S.H., Timms, A., Edwards, S., Bradbury, L.A., Brophy, S., Milicic, A., et al.
(2001)
Whole-genome screening in ankylosing spondylitis: Evidence of non-MHC genetic-susceptibility loci.
American Journal of Human Genetics, 68(4), pp. 918-926.
212
190
Hamersma, J., Cardon, L.R., Bradbury, L.A., Brophy, S., Van Der Horst-Bruinsma, I., Calin, A., et al.
(2001)
Is disease severity in ankylosing spondylitis genetically determined?
Arthritis and Rheumatism, 44(6), pp. 1396-1400.
102
88
Milicic, A., Lindheimer, F., Laval, S., Rudwaleit, M., Ackerman, H., Wordsworth, P., et al.
(2000)
Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitis.
Genes and Immunity, 1(7), pp. 418-422.
48
44
Brown, Matthew A., Edwards, S., Hoyle, E., Campbell, S., Laval, S., Daly, A. K., et al.
(2000)
Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis.
Human Molecular Genetics, 9(11), pp. 1563-1566.
77
62
Carter, N., Williamson, L., Kennedy, L. G., Brown, M. A., & Wordsworth, B. P.
(2000)
Susceptibility to ankylosing spondylitis.
Rheumatology, 39(4), p. 445.
16
15
Hoyle, E., Laval, S. H., Calin, A., Wordsworth, B. P., & Brown, Matthew A.
(2000)
The X-chromosome and susceptibility to ankylosing spondylitis.
Arthritis and Rheumatism, 43(6), pp. 1353-1355.
43
37
Duncan, Emma L., Brown, Matthew A., Sinsheimer, Janet, Bell, John, Carr, Andrew J., Wordsworth, B. Paul, et al.
(1999)
Suggestive linkage of the parathyroid receptor type 1 to osteoporosis.
Journal of Bone and Mineral Research, 14(12), pp. 1993-1999.
128
120
Brown, Matthew A., Kennedy, L. G., Darke, C., Gibson, K., Pile, K. D., Shatford, J. L., et al.
(1998)
The effect of HLA-DR genes on susceptibility to and severity of ankylosing spondylitis.
Arthritis and Rheumatism, 41(3), pp. 460-465.
112
98
Brown, Matthew A., Pile, K. D., Kennedy, L. G., Campbell, D., Andrew, L., March, R., et al.
(1998)
A genome-wide screen for susceptibility loci in ankylosing spondylitis.
Arthritis and Rheumatism, 41(4), pp. 588-595.
176
156
Brown, M.A., Rudwaleit, M., Pile, K. D., Kennedy, L. G., Shatford, J., Amos, C. I., et al.
(1998)
The role of germline polymorphisms in the T-cell receptor in susceptibility to ankylosing spondylitis.
British Journal of Rheumatology, 37(4), pp. 454-458.
11
9
Brown, M A, Jepson, A., Young, A., Whittle, H. C., Greenwood, B. M., & Wordsworth, B. P.
(1997)
Ankylosing spondylitis in West Africans - evidence for a non-HLA-B27 protective effect.
Annals of the Rheumatic Diseases, 56(1), pp. 68-70.
91
83
Hall, F. C., Brown, M. A., Weeks, D. E., Walsh, S., Nicod, A., Butcher, S., et al.
(1997)
A linkage study across the T cell receptor A and T cell receptor B loci in families with rheumatoid arthritis.
Arthritis and Rheumatism, 40(10), pp. 1798-1802.
9
9
Brown, Matthew A., Kennedy, L. Gail, MacGregor, Alex J., Darke, Chris, Duncan, Emma, Shatford, Jane L., et al.
(1997)
Susceptibility to ankylosing spondylitis in twins: The role of genes, HLA, and the environment.
Arthritis and Rheumatism, 40(10), pp. 1823-1828.
460
401
Brown, M A, Pile, K. D., Kennedy, L. G., Calin, A., Darke, C., Bell, J., et al.
(1996)
HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom.
Annals of the Rheumatic Diseases, 55(4), pp. 268-270.
205
178
Brown, Matthew, Bunce, M., Calin, A., Darke, C., & Wordsworth, P.
(1996)
HLA-B associations of HLA-B27 negative ankylosing spondylitis: Comment on the article by Yamaguchi et al.
Arthritis and Rheumatism, 39(10), pp. 1768-1769.
8
9
Conference Paper
Li, Zhixiu, Haynes, Katelin, Thomas, Gethin P., Kenna, Tony J., Leo, Paul J., & Brown, Matthew A.
(2016)
Epigenetic and Expression Analysis of Ankylosing Spondylitis
Association Loci Point to Key Cell Types Driving Disease. In
2016 ACR/ARHP Annual Meeting, November 11-16, 2016, Washington DC.
19
Li, Zhixiu, Servet, Akar, Yarkan, Handan, Cetin, Pinar, Can, Gercek, Kenar, Gokce, et al.
(2016)
Rare Mediterranean Fever (MEFV) Gene Polymorphisms Are Associated with Ankylosing Spondylitis in Turkish and Iranian Population. In
ACR/ARHP Annual Meeting, November 11-16, 2016, Washington DC.
28
Conference Item
Carter, H.E., Hollingworth, S., Duncan, E.L., Brown, M.A., Davis, E., Graves, N., et al.
(2017)
Cost-effectiveness of genetic screening for maturity onset diebetes of the young (Mody). In
ISPOR 22nd Annual International Meeting, 20-24 May 2017, Boston, Ma.
Li, Z., Haynes, K., Thomas, G.P., Kenna, T., Leo, P., & Brown, M.A.
(2013)
Epigenetic and expression analysis of ankylosing spondylitis association loci point to key cell types driving disease. In
10th International Congress on Spondyloarthritides, 15-17 September 2016, Gent, Belgium.
23
Review
Ranganathan, Vidya, Gracey, Eric, Brown, Matthew A., Inman, Robert D., & Haroon, Nigil
(2017)
Pathogenesis of ankylosing spondylitis — recent advances and future directions.
Nature Reviews Rheumatology, 13(6), pp. 359-367.
46
48
Other
Johnson, Stephanie R., Carter, Hannah E., Leo, Paul J., Hollingworth, Samantha, Davis, Elizabeth, Jones, Timothy W., et al.
(2019)
Response to comment on Johnson et al. Cost-effectiveness analysis of routine screening using massively parallel sequencing for maturity-onset diabetes of the young in a pediatric diabetes cohort: Reduced health system costs and improved patient quality of life. Diabetes Care 2019;42:69–76.
Diabetes Care.
6
This list was generated on Sun Dec 8 08:18:45 2019 AEST.