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47XXY and 47XXX in Scleroderma and Myositis.
Scofield RH, Lewis VM, Cavitt J, Kurien BT, Assassi S, Martin J, Gorlova O, Gregersen P, Lee A, Rider LG, O'Hanlon T, Rothwell S, Lilleker J; Myositis Genetics Consortium, Xiaoxi Liu; Kochi Y, Terao C, Igoe A, Stevens W, Sahhar J, Roddy J, Rischmueller M, Lester S, Proudman S, Chen S, Brown MA, Mayes MD, Lamb JA, Miller FW. Scofield RH, et al. Among authors: lee a. ACR Open Rheumatol. 2022 Jun;4(6):528-533. doi: 10.1002/acr2.11413. Epub 2022 Mar 29. ACR Open Rheumatol. 2022. PMID: 35352506 Free PMC article.
Absolute pitch exhibits phenotypic and genetic overlap with synesthesia.
Gregersen PK, Kowalsky E, Lee A, Baron-Cohen S, Fisher SE, Asher JE, Ballard D, Freudenberg J, Li W. Gregersen PK, et al. Among authors: lee a. Hum Mol Genet. 2013 May 15;22(10):2097-104. doi: 10.1093/hmg/ddt059. Epub 2013 Feb 12. Hum Mol Genet. 2013. PMID: 23406871 Free PMC article. Clinical Trial.
Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders.
Miller FW, Cooper RG, Vencovský J, Rider LG, Danko K, Wedderburn LR, Lundberg IE, Pachman LM, Reed AM, Ytterberg SR, Padyukov L, Selva-O'Callaghan A, Radstake TR, Isenberg DA, Chinoy H, Ollier WE, O'Hanlon TP, Peng B, Lee A, Lamb JA, Chen W, Amos CI, Gregersen PK; Myositis Genetics Consortium. Miller FW, et al. Among authors: lee a. Arthritis Rheum. 2013 Dec;65(12):3239-47. doi: 10.1002/art.38137. Arthritis Rheum. 2013. PMID: 23983088 Free PMC article.
Modular analysis of peripheral blood gene expression in rheumatoid arthritis captures reproducible gene expression changes in tumor necrosis factor responders.
Oswald M, Curran ME, Lamberth SL, Townsend RM, Hamilton JD, Chernoff DN, Carulli J, Townsend MJ, Weinblatt ME, Kern M, Pond CM, Lee A, Gregersen PK. Oswald M, et al. Among authors: lee a. Arthritis Rheumatol. 2015 Feb;67(2):344-51. doi: 10.1002/art.38947. Arthritis Rheumatol. 2015. PMID: 25371395 Free PMC article.
Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.
Rothwell S, Cooper RG, Lundberg IE, Miller FW, Gregersen PK, Bowes J, Vencovsky J, Danko K, Limaye V, Selva-O'Callaghan A, Hanna MG, Machado PM, Pachman LM, Reed AM, Rider LG, Cobb J, Platt H, Molberg Ø, Benveniste O, Mathiesen P, Radstake T, Doria A, De Bleecker J, De Paepe B, Maurer B, Ollier WE, Padyukov L, O'Hanlon TP, Lee A, Amos CI, Gieger C, Meitinger T, Winkelmann J, Wedderburn LR, Chinoy H, Lamb JA; Myositis Genetics Consortium. Rothwell S, et al. Among authors: lee a. Ann Rheum Dis. 2016 Aug;75(8):1558-66. doi: 10.1136/annrheumdis-2015-208119. Epub 2015 Sep 11. Ann Rheum Dis. 2016. PMID: 26362759 Free PMC article.
Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes.
Westra HJ, Martínez-Bonet M, Onengut-Gumuscu S, Lee A, Luo Y, Teslovich N, Worthington J, Martin J, Huizinga T, Klareskog L, Rantapaa-Dahlqvist S, Chen WM, Quinlan A, Todd JA, Eyre S, Nigrovic PA, Gregersen PK, Rich SS, Raychaudhuri S. Westra HJ, et al. Among authors: lee a. Nat Genet. 2018 Oct;50(10):1366-1374. doi: 10.1038/s41588-018-0216-7. Epub 2018 Sep 17. Nat Genet. 2018. PMID: 30224649 Free PMC article.
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
Acosta-Herrera M, Kerick M, González-Serna D; Myositis Genetics Consortium; Scleroderma Genetics Consortium; Wijmenga C, Franke A, Gregersen PK, Padyukov L, Worthington J, Vyse TJ, Alarcón-Riquelme ME, Mayes MD, Martin J. Acosta-Herrera M, et al. Ann Rheum Dis. 2019 Mar;78(3):311-319. doi: 10.1136/annrheumdis-2018-214127. Epub 2018 Dec 20. Ann Rheum Dis. 2019. PMID: 30573655 Free PMC article.
Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation.
Rothwell S, Amos CI, Miller FW, Rider LG, Lundberg IE, Gregersen PK, Vencovsky J, McHugh N, Limaye V, Selva-O'Callaghan A, Hanna MG, Machado PM, Pachman LM, Reed AM, Molberg Ø, Benveniste O, Mathiesen P, Radstake T, Doria A, De Bleecker JL, De Paepe B, Maurer B, Ollier WE, Padyukov L, O'Hanlon TP, Lee A, Wedderburn LR, Chinoy H, Lamb JA; Myositis Genetics Consortium. Rothwell S, et al. Among authors: lee a. Arthritis Rheumatol. 2023 Jun;75(6):1021-1027. doi: 10.1002/art.42434. Epub 2023 Mar 20. Arthritis Rheumatol. 2023. PMID: 36580032 Free PMC article.
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