King's College London

Research portal

Professor Matthew Brown

  1. Genome wide association study of response to interval and continuous exercise training: the Predict-HIIT study

    Williams, C. J., Li, Z., Harvey, N., Lea, R. A., Gurd, B. J., Bonafiglia, J. T., Papadimitriou, I., Jacques, M., Croci, I., Stensvold, D., Wisloff, U., Taylor, J. L., Gajanand, T., Cox, E. R., Ramos, J. S., Fassett, R. G., Little, J. P., Francois, M. E., Hearon, C. M., Sarma, S. & 16 others, Janssen, S. L. J. E., Van Craenenbroeck, E. M., Beckers, P., Cornelissen, V. A., Howden, E. J., Keating, S. E., Yan, X., Bishop, D. J., Bye, A., Haupt, L. M., Griffiths, L. R., Ashton, K. J., Brown, M. A., Torquati, L., Eynon, N. & Coombes, J. S., Dec 2021, In: JOURNAL OF BIOMEDICAL SCIENCE. 28, 1, 37.

    Research output: Contribution to journalArticlepeer-review

  2. Polygenic risk scores have high diagnostic capacity in ankylosing spondylitis.

    Li, Z., Wu, X., Leo, P. J., De Guzman, E., Akkoc, N., Breban, M., MacFarlane, G. J., Mahmoudi, M., Marzo-Ortega, H., Anderson, L. K., Wheeler, L., Chou, C. T., Harrison, A. A., Stebbings, S., Jones, G. T., Bang, S. Y., Wang, G., Jamshidi, A., Farhadi, E., Song, J. & 21 others, Lin, L., Li, M., Wei, J. C. C., Martin, N. G., Wright, M. J., Lee, M. J., Wang, Y., Zhan, J., Zhang, J. S., Wang, X., Jin, Z. B., Weisman, M. H., Gensler, L. S., Ward, M. M., Rahbar, M. H., Diekman, L., Kim, T. H., Reveille, J. D., Wordsworth, B. P., Xu, H. & Brown, M. A., 1 Sep 2021, In: Annals of the rheumatic diseases. 80, 9, p. 1168-1174 7 p., annrheumdis-2020- 219446.

    Research output: Contribution to journalArticlepeer-review

  3. Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes

    Acosta-Herrera, M., Kerick, M., Lopéz-Isac, E., Assassi, S., Beretta, L., Simeón-Aznar, C. P., Ortego-Centeno, N., Proudman, S. M., Hunzelmann, N., Moroncini, G., De Vries-Bouwstra, J. K., Orozco, G., Barton, A., Herrick, A. L., Terao, C., Allanore, Y., Brown, M. A., Radstake, T. R. D. J., Fonseca, C., Denton, C. P. & 2 others, Mayes, M. D. & Martin, J., 1 Aug 2021, In: Annals of the rheumatic diseases. 80, 8, p. 1040-1047 8 p.

    Research output: Contribution to journalArticlepeer-review

  4. A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young

    Graff, S. M., Johnson, S. R., Leo, P. J., Dadi, P. K., Dickerson, M. T., Nakhe, A. Y., McInerney-Leo, A. M., Marshall, M., Zaborska, K. E., Schaub, C. M., Brown, M. A., Jacobson, D. A. & Duncan, E. L., 8 Jul 2021, In: JCI Insight. 6, 13, 138057.

    Research output: Contribution to journalArticlepeer-review

  5. Ankylosing spondylitis: an autoimmune or autoinflammatory disease?

    Mauro, D., Thomas, R., Guggino, G., Lories, R., Brown, M. A. & Ciccia, F., Jul 2021, In: Nature Reviews Rheumatology. 17, 7, p. 387-404 18 p.

    Research output: Contribution to journalReview articlepeer-review

  6. Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

    Seabrook, A. J., Harris, J. E., Velosa, S. B., Kim, E., McInerney-Leo, A. M., Dwight, T., Hockings, J. I., Hockings, N. G., Kirk, J., Leo, P. J., Love, A. J., Luxford, C., Marshall, M., Mete, O., Pennisi, D. J., Brown, M. A., Gill, A. J., Hockings, G. I., Clifton-Bligh, R. J. & Duncan, E. L., 1 Apr 2021, In: The Journal of clinical endocrinology and metabolism. 106, 4, p. 1163-1182 20 p.

    Research output: Contribution to journalArticlepeer-review

  7. Low responders to endurance training exhibit impaired hypertrophy and divergent biological process responses in rat skeletal muscle

    West, D. W. D., Doering, T. M., Thompson, J. L. M., Budiono, B. P., Lessard, S. J., Koch, L. G., Britton, S. L., Steck, R., Byrne, N. M., Brown, M. A., Peake, J. M., Ashton, K. J. & Coffey, V. G., 1 Mar 2021, In: Experimental Physiology. 106, 3, p. 714-725 12 p.

    Research output: Contribution to journalArticlepeer-review

  8. The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer’

    McInerney-Leo, A. M., West, J., Meiser, B., West, M., Toombs, M. R., Brown, M. A. & Duncan, E. L., 2021, (Accepted/In press) In: Journal of Genetic Counseling.

    Research output: Contribution to journalArticlepeer-review

  9. A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

    Hildebrand, J. M., Kauppi, M., Majewski, I. J., Liu, Z., Cox, A. J., Miyake, S., Petrie, E. J., Silk, M. A., Li, Z., Tanzer, M. C., Brumatti, G., Young, S. N., Hall, C., Garnish, S. E., Corbin, J., Stutz, M. D., Di Rago, L., Gangatirkar, P., Josefsson, E. C., Rigbye, K. & 50 others, Anderton, H., Rickard, J. A., Tripaydonis, A., Sheridan, J., Scerri, T. S., Jackson, V. E., Czabotar, P. E., Zhang, J. G., Varghese, L., Allison, C. C., Pellegrini, M., Tannahill, G. M., Hatchell, E. C., Willson, T. A., Stockwell, D., de Graaf, C. A., Collinge, J., Hilton, A., Silke, N., Spall, S. K., Chau, D., Athanasopoulos, V., Metcalf, D., Laxer, R. M., Bassuk, A. G., Darbro, B. W., Fiatarone Singh, M. A., Vlahovich, N., Hughes, D., Kozlovskaia, M., Ascher, D. B., Warnatz, K., Venhoff, N., Thiel, J., Biben, C., Blum, S., Reveille, J., Hildebrand, M. S., Vinuesa, C. G., McCombe, P., Brown, M. A., Kile, B. T., McLean, C., Bahlo, M., Masters, S. L., Nakano, H., Ferguson, P. J., Murphy, J. M., Alexander, W. S. & Silke, J., 1 Dec 2020, In: Nature Communications. 11, 1, 3150.

    Research output: Contribution to journalArticlepeer-review

  10. HLA-A alleles including HLA-A29 affect the composition of the gut microbiome: a potential clue to the pathogenesis of birdshot retinochoroidopathy

    Sternes, P. R., Martin, T. M., Paley, M., Diamond, S., Asquith, M. J., Brown, M. A. & Rosenbaum, J. T., 1 Dec 2020, In: Scientific Reports. 10, 1, 17636.

    Research output: Contribution to journalArticlepeer-review

  11. Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

    Nabais, M. F., Lin, T., Benyamin, B., Williams, K. L., Garton, F. C., Vinkhuyzen, A. A. E., Zhang, F., Vallerga, C. L., Restuadi, R., Freydenzon, A., Zwamborn, R. A. J., Hop, P. J., Robinson, M. R., Gratten, J., Visscher, P. M., Hannon, E., Mill, J., Brown, M. A., Laing, N. G., Mather, K. A. & 17 others, Sachdev, P. S., Ngo, S. T., Steyn, F. J., Wallace, L., Henders, A. K., Needham, M., Veldink, J. H., Mathers, S., Nicholson, G., Rowe, D. B., Henderson, R. D., McCombe, P. A., Pamphlett, R., Yang, J., Blair, I. P., McRae, A. F. & Wray, N. R., 1 Dec 2020, In: NPJ Genomic medicine. 5, 1, 10.

    Research output: Contribution to journalArticlepeer-review

  12. Factors influencing cancer genetic somatic mutation test ordering by cancer physician

    Demeshko, A., Pennisi, D. J., Narayan, S., Gray, S. W., Brown, M. A. & McInerney-Leo, A. M., Dec 2020, In: Journal Of Translational Medicine. 18, 1, 431.

    Research output: Contribution to journalArticlepeer-review

  13. Genetic risk scores in inflammatory arthritis: a new era?

    Brown, M. A. & Aletaha, D., 1 Oct 2020, In: Nature Reviews Rheumatology. 16, 10, p. 545-546 2 p.

    Research output: Contribution to journalComment/debatepeer-review

  14. Genetics and the axial spondyloarthritis spectrum

    Brown, M. A., Xu, H. & Li, Z., 1 Oct 2020, In: Rheumatology (Oxford, England). 59, 4, p. iv58-iv66

    Research output: Contribution to journalArticlepeer-review

  15. Altered Repertoire Diversity and Disease-Associated Clonal Expansions Revealed by T Cell Receptor Immunosequencing in Ankylosing Spondylitis Patients

    Hanson, A. L., Nel, H. J., Bradbury, L., Phipps, J., Thomas, R., Lê Cao, K. A., Kenna, T. J. & Brown, M. A., 1 Aug 2020, In: Arthritis and Rheumatology. 72, 8, p. 1289-1302 14 p.

    Research output: Contribution to journalArticlepeer-review

  16. Biomarker development for axial spondyloarthritis

    Brown, M. A., Li, Z. & Cao, K. A. L., 1 Aug 2020, In: Nature Reviews Rheumatology. 16, 8, p. 448-463 16 p.

    Research output: Contribution to journalReview articlepeer-review

  17. Normal human enthesis harbours conventional CD4+ and CD8+ T cells with regulatory features and inducible IL-17A and TNF expression

    Watad, A., Rowe, H., Russell, T., Zhou, Q., Anderson, L. K., Khan, A., Dunsmuir, R., Loughenbury, P., Borse, V., Rao, A., Millner, P. A., Bragazzi, N. L., Amital, H., Cuhtbert, R., Wittmann, M., Sharif, K., Kenna, T., Brown, M. A., Newton, D., Bridgewood, C. & 1 others, McGonagle, D. G., 1 Aug 2020, In: Annals of the rheumatic diseases. 79, 8, p. 1044-1054 11 p.

    Research output: Contribution to journalArticlepeer-review

  18. Septic shock: A genomewide association study and polygenic risk score analysis

    D'Urso, S., Rajbhandari, D., Peach, E., De Guzman, E., Li, Q., Medland, S. E., Gordon, S. D., Martin, N. G., Ligthart, S., Brown, M. A., Powell, J., McArthur, C., Rhodes, A., Meyer, J., Finfer, S., Myburgh, J., Blumenthal, A., Cohen, J., Venkatesh, B., Cuellar-Partida, G. & 1 others, Evans, D. M., 1 Aug 2020, In: TWIN RESEARCH AND HUMAN GENETICS. 23, 4, p. 204-213 10 p.

    Research output: Contribution to journalArticlepeer-review

  19. Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

    Kou, S., De Cunto, C., Baujat, G., Wentworth, K. L., Grogan, D. R., Brown, M. A., Di Rocco, M., Keen, R., Al Mukaddam, M., le Quan Sang, K. H., Masharani, U., Kaplan, F. S., Pignolo, R. J. & Hsiao, E. C., 29 Jul 2020, In: Orphanet Journal of Rare Diseases. 15, 1, 1 p., 193.

    Research output: Contribution to journalArticlepeer-review

  20. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Primary Immunodeficiency Consortium for the NIHR Bioresource, 2 Jul 2020, In: Nature. 583, 7814, p. 90-95 6 p.

    Research output: Contribution to journalArticlepeer-review

  21. Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population

    Shi, X. Y., Wang, G., Li, T., Li, Z., Leo, P., Liu, Z., Wu, G., Zhu, H., Zhang, Y., Li, D., Gao, L., Yang, L., Wang, W., Liao, J., Wang, J., Zhou, S., Wang, H., Li, X., Gao, J., Zhang, L. & 12 others, Shu, X., Li, D., Li, Y., Chen, C., Zhang, X., Partida, G. C., Lundberg, M., Reutens, D., Bartlett, P., Brown, M. A., Zou, L. P. & Xu, H., Jul 2020, In: EBioMedicine. 57, 102840.

    Research output: Contribution to journalArticlepeer-review

  22. Genomewide association study of acute anterior uveitis identifies new susceptibility loci

    Huang, X. F., Li, Z., de Guzman, E., Robinson, P., Gensler, L., Ward, M. M., Rahbar, M. H., Lee, M. J., Weisman, M. H., Macfarlane, G. J., Jones, G. T., Klingberg, E., Forsblad-D’Elia, H., McCluskey, P., Wakefield, D., Coombes, J. S., Fiatarone Singh, M. A., Mavros, Y., Vlahovich, N., Hughes, D. C. & 11 others, Marzo-Ortega, H., van der Horste-Bruinsma, I., O’Shea, F., Martin, T. M., Rosenbaum, J., Breban, M., Jin, Z. B., Leo, P., Reveille, J. D., Wordsworth, B. P. & Brown, M. A., Jun 2020, In: Investigative Ophthalmology and Visual Science. 61, 6, 3.

    Research output: Contribution to journalArticlepeer-review

  23. Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells

    Gresle, M. M., Jordan, M. A., Stankovich, J., Spelman, T., Johnson, L. J., Laverick, L., Hamlett, A., Smith, L. D., Jokubaitis, V. G., Baker, J., Haartsen, J., Taylor, B., Charlesworth, J., Bahlo, M., Speed, T. P., Brown, M. A., Field, J., Baxter, A. G. & Butzkueven, H., Jun 2020, In: Life Science Alliance. 3, 7, e202000650.

    Research output: Contribution to journalArticlepeer-review

  24. Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study

    McInerney-Leo, A. M., West, J., Meiser, B., West, M., Brown, M. A. & Duncan, E., 7 May 2020, In: Frontiers in Genetics. 11, 461.

    Research output: Contribution to journalArticlepeer-review

  25. MHC associations of ankylosing spondylitis in East Asians are complex and involve non-HLA-B27 HLA contributions

    Wang, G., Kim, T. H., Li, Z., Cortes, A., Kim, K., Bang, S. Y., Leo, P., Brown, M. A. & Xu, H., 9 Apr 2020, In: Arthritis Research and Therapy. 22, 1, 74.

    Research output: Contribution to journalArticlepeer-review

  26. Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

    McInerney-Leo, A. M., West, J. A., McGill, J. J., Brown, M. A., Duncan, E. L. & West, M. J., 1 Apr 2020, In: American Journal of Medical Genetics, Part A. 182, 4, p. 829-830 2 p.

    Research output: Contribution to journalLetterpeer-review

  27. Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

    McInerney-Leo, A. M., West, J., Wheeler, L., Leo, P. J., Summers, K. M., Anderson, L., Brown, M. A., West, M. & Duncan, E. L., 1 Mar 2020, In: Molecular Genetics and Genomic Medicine. 8, 3, e1116.

    Research output: Contribution to journalArticlepeer-review

  28. Prediction of ankylosing spondylitis in the HUNT study by a genetic risk score combining 110 single-nucleotide polymorphisms of genome-wide significance

    Rostami, S., Hoff, M., Brown, M. A., Hveem, K., Holmen, O. L., Fritsche, L. G. & Videm, V., 1 Feb 2020, In: Journal of Rheumatology. 47, 2, p. 204-210 7 p.

    Research output: Contribution to journalArticlepeer-review

  29. A latent class based imputation method under Bayesian quantile regression framework using asymmetric Laplace distribution for longitudinal medication usage data with intermittent missing values

    Lee, M., Rahbar, M. H., Gensler, L. S., Brown, M., Weisman, M. & Reveille, J. D., Feb 2020, In: Journal of Biopharmaceutical Statistics. 30, 1, p. 160-177 18 p.

    Research output: Contribution to journalArticlepeer-review

  30. Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree with Early-Onset Gout

    Huang, X. F., Sun, L., Zhang, C., Zhou, Z., Chen, H., Zhang, L., Brown, M. A. & Xia, X., 31 Jan 2020, In: BioMed Research International. 2020, p. 1-6 4321419.

    Research output: Contribution to journalArticlepeer-review

  31. A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

    Gregson, C. L., Bergen, D. J. M., Leo, P., Sessions, R. B., Wheeler, L., Hartley, A., Youlten, S., Croucher, P. I., McInerney-Leo, A. M., Fraser, W., Tang, J. C. Y., Anderson, L., Marshall, M., Sergot, L., Paternoster, L., Davey Smith, G., The AOGC Consortium, Brown, M. A., Hammond, C., Kemp, J. P. & 2 others, Tobias, J. H. & Duncan, E. L., 16 Jan 2020, In: Journal of Bone and Mineral Research. 35, 1, p. 92-105 14 p.

    Research output: Contribution to journalArticlepeer-review

  32. Hippocampal plasticity underpins long-term cognitive gains from resistance exercise in MCI

    Broadhouse, K. M., Singh, M. F., Suo, C., Gates, N., Wen, W., Brodaty, H., Jain, N., Wilson, G. C., Meiklejohn, J., Singh, N., Baune, B. T., Baker, M., Foroughi, N., Wang, Y., Kochan, N., Ashton, K., Brown, M., Li, Z., Mavros, Y., Sachdev, P. S. & 1 others, J.Valenzuela, M., 2020, In: NeuroImage: Clinical. 25, 102182.

    Research output: Contribution to journalArticlepeer-review

  33. Association of Schizophrenia Risk with Disordered Niacin Metabolism in an Indian Genome-wide Association Study

    Periyasamy, S., John, S., Padmavati, R., Rajendren, P., Thirunavukkarasu, P., Gratten, J., Vinkhuyzen, A., McRae, A., Holliday, E. G., Nyholt, D. R., Nancarrow, D., Bakshi, A., Hemani, G., Nertney, D., Smith, H., Filippich, C., Patel, K., Fowdar, J., McLean, D., Tirupati, S. & 11 others, Nagasundaram, A., Gundugurti, P. R., Selvaraj, K., Jegadeesan, J., Jorde, L. B., Wray, N. R., Brown, M. A., Suetani, R., Giacomotto, J., Thara, R. & Mowry, B. J., Oct 2019, In: JAMA Psychiatry. 76, 10, p. 1026-1034 9 p.

    Research output: Contribution to journalArticlepeer-review

  34. Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene

    Brown, M. A., Duncan, E. L. & Evans, D. M., 27 Jun 2019, In: The New England journal of medicine. 380, 26, p. 2583 1 p.

    Research output: Contribution to journalLetterpeer-review

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

    Whyte, J. M., Ellis, J. J., Brown, M. A. & Kenna, T. J., 3 Jun 2019, In: Arthritis Research and Therapy. 21, p. 1-14 133.

    Research output: Contribution to journalReview articlepeer-review

  36. Genetic susceptibility to cervical neoplasia

    Brown, M. A. & Leo, P. J., Jun 2019, In: Papillomavirus Research. 7, p. 132-134 3 p.

    Research output: Contribution to journalReview articlepeer-review

  37. Natural history of fibrodysplasia ossificans progressiva: Cross-sectional analysis of annotated baseline phenotypes

    Pignolo, R. J., Baujat, G., Brown, M. A., De Cunto, C., Dirocco, M., Hsiao, E. C., Keen, R., Al Mukaddam, M., Sang, K. H. L. Q., Wilson, A., White, B., Grogan, D. R. & Kaplan, F. S., 3 May 2019, In: Orphanet Journal of Rare Diseases. 14, 1, p. 1-11 98.

    Research output: Contribution to journalArticlepeer-review

  38. Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

    Johnson, S. R., Ellis, J. J., Leo, P. J., Anderson, L. K., Ganti, U., Harris, J. E., Curran, J. A., McInerney-Leo, A. M., Paramalingam, N., Song, X., Conwell, L. S., Harris, M., Jones, T. W., Brown, M. A., Davis, E. A. & Duncan, E. L., Feb 2019, In: PEDIATRIC DIABETES. 20, 1, p. 57-64 8 p.

    Research output: Contribution to journalArticlepeer-review

  39. 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

    Johnson, S. R., Carter, H. E., Leo, P., Hollingworth, S. A., Davis, E. A., Jones, T. W., Conwell, L. S., Harris, M., Brown, M. A., Graves, N. & Duncan, E. L., 1 Jan 2019, In: Diabetes Care. 42, 1, p. 69-76 8 p.

    Research output: Contribution to journalArticlepeer-review

  40. MRI compared with low-dose CT scanning in the diagnosis of axial spondyloarthritis

    Ye, L., Liu, Y., Xiao, Q., Dong, L., Wen, C., Zhang, Z., Jin, M., Brown, M. A. & Chen, D., 1 Jan 2019, In: Clinical rheumatology.

    Research output: Contribution to journalArticlepeer-review

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

    Li, Z., Akar, S., Yarkan, H., Lee, S. K., Çetin, P., Can, G., Kenar, G., Çapa, F., Pamuk, O. N., Pehlivan, Y., Cremin, K., De Guzman, E., Harris, J., Wheeler, L., Jamshidi, A., Vojdanian, M., Farhadi, E., Ahmadzadeh, N., Yüce, Z., Dalkılıç, E. & 11 others, Solmaz, D., Akın, B., Dönmez, S., Sarı, I., Leo, P. J., Kenna, T. J., Önen, F., Mahmoudi, M., Brown, M. A., Akkoc, N. & Masters, S. L. (ed.), 2019, In: PLoS Genetics. 15, 4, e1008038.

    Research output: Contribution to journalArticlepeer-review

  42. 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

    Johnson, S. R., Carter, H. E., Leo, P., Hollingworth, S. A., Davis, E. A., Jones, T. W., Conwell, L. S., Harris, M., Brown, M. A., Graves, N. & Duncan, E. L., 2019, In: Diabetes Care. 42, 5, p. E79-E80

    Research output: Contribution to journalLetterpeer-review

  43. HLA and KIR associations of cervical neoplasia

    Bao, X., Hanson, A. L., Madeleine, M. M., Wang, S. S., Schwartz, S. M., Newell, F., Pettersson-Kymmer, U., Hemminki, K., Tiews, S., Steinberg, W., Rader, J. S., Castro, F., Safaeian, M., Franco, E. L., Coutlée, F., Ohlsson, C., Cortes, A., Marshall, M., Mukhopadhyay, P., Cremin, K. & 14 others, Johnson, L. G., Garland, S. M., Tabrizi, S. N., Wentzensen, N., Sitas, F., Trimble, C., Little, J., Cruickshank, M., Frazer, I. H., Hildesheim, A., Brown, M. A., Duncan, E. L., Sun, Y. P. & Leo, P. J., 5 Nov 2018, In: Journal of Infectious Diseases. 218, 12, p. 2006-2015 10 p.

    Research output: Contribution to journalArticlepeer-review

  44. 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, C. L., Newell, F., Leo, P. J., Clark, G. R., Paternoster, L., Marshall, M., Forgetta, V., Morris, J. A., Ge, B., Bao, X., Duncan Bassett, J. H., Williams, G. R., Youlten, S. E., Croucher, P. I., Davey Smith, G., Evans, D. M., Kemp, J. P., Brown, M. A., Tobias, J. H. & Duncan, E. L., 1 Sep 2018, In: Bone. 114, 0, p. 62-71 10 p.

    Research output: Contribution to journalArticlepeer-review

  45. 综合遗传筛查在青少年发病的成年型糖尿病(MODY)患者中的临床应用价值:在既往筛查过的一个家族中找到了一个新的ABCC8突变

    Johnson, S. R., Leo, P., Conwell, L. S., Harris, M., Brown, M. A. & Duncan, E. L., Sep 2018, In: Journal of Diabetes. 10, 9, p. 764-767 4 p.

    Research output: Contribution to journalArticlepeer-review

  46. Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia

    Maung, K. Z. Y., Leo, P. J., Bassal, M., Casolari, D. A., Gray, J. X., Bray, S. C., Pederson, S., Singhal, D., Samaraweera, S. E., Nguyen, T., Cildir, G., Marshall, M., Ewing, A., Duncan, E. L., Brown, M. A., Saal, R., Tergaonkar, V., To, L. B., Marlton, P., Gill, D. & 5 others, Lewis, I., Deans, A. J., Brown, A. L., D'Andrea, R. J. & Gonda, T. J., 1 Jun 2018, In: Blood Cancer Journal. 8, 6, 50.

    Research output: Contribution to journalLetterpeer-review

  47. Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

    Johnson, S. R., Leo, P. J., McInerney-Leo, A. M., Anderson, L. K., Marshall, M., McGown, I., Newell, F., Brown, M. A., Conwell, L. S., Harris, M. & Duncan, E. L., Jun 2018, In: PEDIATRIC DIABETES. 19, 4, p. 656-662 7 p.

    Research output: Contribution to journalArticlepeer-review

  48. Point mutation in p14 ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

    McInerney-Leo, A. M., Wheeler, L., Sturm, R. A., Tan, J. M., Harris, J. E., Anderson, L., Jagirdar, K., Brown, M. A., Leo, P. J., Soyer, H. P. & Duncan, E. L., Apr 2018, In: British Journal of Dermatology. 178, 4, p. e263-e264

    Research output: Contribution to journalLetterpeer-review

  49. Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

    Alonso, N., Estrada, K., Albagha, O. M. E., Herrera, L., Reppe, S., Olstad, O. K., Gautvik, K. M., Ryan, N. M., Evans, K. L., Nielson, C. M., Hsu, Y. H., Kiel, D. P., Markozannes, G., Ntzani, E. E., Evangelou, E., Feenstra, B., Liu, X., Melbye, M., Masi, L., Brandi, M. L. & 41 others, Riches, P., Daroszewska, A., Olmos, J. M., Valero, C., Castillo, J., Riancho, J. A., Husted, L. B., Langdahl, B. L., Brown, M. A., Duncan, E. L., Kaptoge, S., Khaw, K. T., Usategui-Martín, R., Del Pino-Montes, J., González-Sarmiento, R., Lewis, J. R., Prince, R. L., D'Amelio, P., García-Giralt, N., Nogués, X., Mencej-Bedrac, S., Marc, J., Wolstein, O., Eisman, J. A., Oei, L., Medina-Gómez, C., Schraut, K. E., Navarro, P., Wilson, J. F., Davies, G., Starr, J., Deary, I., Tanaka, T., Ferrucci, L., Gianfrancesco, F., Gennari, L., Lucas, G., Elosua, R., Uitterlinden, A. G., Rivadeneira, F. & Ralston, S. H., 1 Mar 2018, In: Annals of the rheumatic diseases. 77, 3, p. 378-385 8 p.

    Research output: Contribution to journalArticlepeer-review

  50. Assessment of the genetic and clinical determinants of fracture risk: Genome wide association and mendelian randomisation study

    GEFOS/GENOMOS consortium and the 23andMe research team, Trajanoska, K., Morris, J. A., Oei, L., Zheng, H. F., Evans, D. M., Kiel, D. P., Ohlsson, C., Richards, J. B., Rivadeneira, F., Forgett, V., Leong, A., Ahmad, O. S., Laurin, C., Mokry, L. E., Ross, S., Elks, C. E., Bowden, J., Warrington, N. M., Kleinman, A. & 31 others, Willems, S. M., Wright, D., Day, F. R., Murray, A., Ruth, K. S., Tsilidis, K. K., Ackert-Bicknell, C. L., Bassett, J. H. D., van der Eerden, B. C. J., Gautvik, K., Reppe, S., Williams, G. R., Medina-Gómez, C., Estrada, K., Amin, N., Bis, J. C., Breda, S., Chasman, Demissie, S., Enneman, A. W., Hsu, Y. H., Ingvarsson, T., Kähönen, M., Kammerer, C., Moayyeri, A., Eriksson, J., Lee, S. H., Christiansen, C., Brown, M., Duncan, E. L. & Spector, T. D., 2018, In: The BMJ. 362, k3225.

    Research output: Contribution to journalArticlepeer-review

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