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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Development and implementation of 'A guide to PPIE - Early Integration into Research Proposals' in a multi-disciplinary consortium.
Beesley R, Luling Feilding F; CLUSTER Consortium Champions; Rosser EC, Shoop-Worrall SJW, McNeece A, Wanstall Z, Hyrich K, Wedderburn LR; CLUSTER Consortium. Beesley R, et al. Among authors: rosser ec. Rheumatology (Oxford). 2024 Mar 1;63(3):e88-e91. doi: 10.1093/rheumatology/kead482. Rheumatology (Oxford). 2024. PMID: 37707533 Free PMC article. No abstract available.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositis.
Wilkinson MGL, Moulding D, McDonnell TCR, Orford M, Wincup C, Ting JYJ, Otto GW, Restuadi R, Kelberman D, Papadopoulou C, Castellano S, Eaton S, Deakin CT, Rosser EC, Wedderburn LR. Wilkinson MGL, et al. Among authors: rosser ec. Ann Rheum Dis. 2023 May;82(5):658-669. doi: 10.1136/ard-2022-223469. Epub 2022 Dec 23. Ann Rheum Dis. 2023. PMID: 36564154 Free PMC article.
255 results