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Page 1
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskär K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC; Genomics England Research Consortium. Pagnamenta AT, et al. Among authors: bailey k. J Med Genet. 2022 Oct;59(10):947-950. doi: 10.1136/jmedgenet-2021-108027. Epub 2021 Nov 15. J Med Genet. 2022. PMID: 34782440 Free PMC article. No abstract available.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB. Zhang C, et al. Among authors: bailey k. HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047859 Free PMC article.
Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE.
Charras A, Haldenby S, Smith EMD, Egbivwie N, Olohan L, Kenny JG, Schwarz K, Roberts C, Al-Abadi E, Armon K, Bailey K, Ciurtin C, Gardner-Medwin J, Haslam K, Hawley DP, Leahy A, Leone V, McErlane F, Modgil G, Pilkington C, Ramanan AV, Rangaraj S, Riley P, Sridhar A, Beresford MW, Hedrich CM. Charras A, et al. Among authors: bailey k. Rheumatology (Oxford). 2023 Feb 23;62(SI2):SI210-SI225. doi: 10.1093/rheumatology/keac275. Rheumatology (Oxford). 2023. PMID: 35532072 Free PMC article.
Clinical and laboratory phenotypes in juvenile-onset Systemic Lupus Erythematosus across ethnicities in the UK.
Massias JS, Smith EM, Al-Abadi E, Armon K, Bailey K, Ciurtin C, Davidson J, Gardner-Medwin J, Haslam K, Hawley DP, Leahy A, Leone V, McErlane F, Mewar D, Modgil G, Moots R, Pilkington C, Ramanan AV, Rangaraj S, Riley P, Sridhar A, Wilkinson N, Beresford MW, Hedrich CM. Massias JS, et al. Among authors: bailey k. Lupus. 2021 Apr;30(4):597-607. doi: 10.1177/0961203320984251. Epub 2021 Jan 7. Lupus. 2021. PMID: 33413005 Free PMC article.
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration; Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C. Loveday C, et al. Ann Oncol. 2022 Dec;33(12):1318-1327. doi: 10.1016/j.annonc.2022.09.152. Epub 2022 Sep 17. Ann Oncol. 2022. PMID: 36122798 Free article.
Muscle Biopsy Findings in Combination With Myositis-Specific Autoantibodies Aid Prediction of Outcomes in Juvenile Dermatomyositis.
Deakin CT, Yasin SA, Simou S, Arnold KA, Tansley SL, Betteridge ZE, McHugh NJ, Varsani H, Holton JL, Jacques TS, Pilkington CA, Nistala K, Wedderburn LR; UK Juvenile Dermatomyositis Research Group. Deakin CT, et al. Arthritis Rheumatol. 2016 Nov;68(11):2806-2816. doi: 10.1002/art.39753. Epub 2016 Oct 9. Arthritis Rheumatol. 2016. PMID: 27214289 Free PMC article.
Histological heterogeneity in a large clinical cohort of juvenile idiopathic inflammatory myopathy: analysis by myositis autoantibody and pathological features.
Yasin SA, Schutz PW, Deakin CT, Sag E, Varsani H, Simou S, Marshall LR, Tansley SL, McHugh NJ, Holton JL, Wedderburn LR, Jacques TS; UK Juvenile Dermatomyositis Research Group (UK and Ireland). Yasin SA, et al. Neuropathol Appl Neurobiol. 2019 Aug;45(5):495-512. doi: 10.1111/nan.12528. Epub 2019 Mar 11. Neuropathol Appl Neurobiol. 2019. PMID: 30378704 Free PMC article.
The Lazarus effect of very high-dose intravenous anakinra in severe non-familial CNS-HLH.
Kavirayani A, Charlesworth JEG, Segal S, Kelly D, Wilson S, Qureshi A, Blanco E, Weitz J, O'Shea D, Bailey K. Kavirayani A, et al. Among authors: bailey k. Lancet Rheumatol. 2020 Dec;2(12):e736-e738. doi: 10.1016/S2665-9913(20)30361-1. Epub 2020 Oct 15. Lancet Rheumatol. 2020. PMID: 33083789 Free PMC article. No abstract available.
Continuous intravenous anakinra for treating severe secondary haemophagocytic lymphohistiocytosis/macrophage activation syndrome in critically ill children.
Charlesworth JEG, Wilson S, Qureshi A, Blanco E, Mitchell A, Segal S, Kelly D, Weitz J, O'Shea D, Bailey K, Kavirayani A. Charlesworth JEG, et al. Among authors: bailey k. Pediatr Blood Cancer. 2021 Sep;68(9):e29102. doi: 10.1002/pbc.29102. Epub 2021 Jun 11. Pediatr Blood Cancer. 2021. PMID: 34114322
2,011 results