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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: taylor jp. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
Something to Chew on; Plate-Waste at an Ontario Veteran's Centre.
Miller C. MHSc, RD, Taylor J. RD, Tong R. PMDip, Thompson S. RD, Thomson E. RD, Robertson A. RD, Bishara R. MSc, RD. Miller C. MHSc, RD, et al. Can J Diet Pract Res. 2024 Jun 1;85(2):106-110. doi: 10.3148/cjdpr-2024-007. Epub 2024 Jun 4. Can J Diet Pract Res. 2024. PMID: 38832646
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Broeren EC, Gitau VN, Byrne AB, Ajuyah P, Balzotti MB, Berg JS, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns BT, Burns NJ, Chandrasekhar A, Chawla A, Chong JX, Chopra M, Clause AR, DiStefano MT, DiTroia S, Elnagheeb MA, Girod AN, Goel H, Golden-Grant KL, Ha T, Hamosh A, Huang JM, Hughes MY, Jamuar SS, Kam S, Kesari A, Koh AL, Lassiter RNT, Leigh SE, Lemire G, Lim JY, Malhotra A, McCurry HR, Milewski B, Moosa S, Murray SA, Owens EH, Palmer EE, Palus BC, Patel MJ, Rajkumar R, Ratliff JC, Raymond FL, Assis BDRR, Sajan SA, Schlachetzki Z, Schmidt SA, Stark Z, Samuel SP, Taylor JP, Thaxton C, Thrush DL, Toro S, Tshering K, Vasilevsky NA, Wayburn B, Webb RF, O'Donnell-Luria A, Coffey AJ. Broeren EC, et al. Among authors: taylor jp. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317561. doi: 10.1101/2024.11.19.24317561. medRxiv. 2024. PMID: 39606380 Free PMC article. Preprint.
Cohort Profile: Post-Hospitalisation COVID-19 (PHOSP-COVID) study.
Elneima O, McAuley HJC, Leavy OC, Chalmers JD, Horsley A, Ho LP, Marks M, Poinasamy K, Raman B, Shikotra A, Singapuri A, Sereno M, Harris VC, Houchen-Wolloff L, Saunders RM, Greening NJ, Richardson M, Quint JK, Briggs A, Docherty AB, Kerr S, Harrison EM, Lone NI, Thorpe M, Heaney LG, Lewis KE, Aul R, Beirne P, Bolton CE, Brown JS, Choudhury G, Bakerly ND, Easom N, Echevarria C, Fuld J, Hart N, Hurst JR, Jones MG, Parekh D, Pfeffer P, Rahman NM, Rowland-Jones SL, Thompson AR, Jolley C, Shah AM, Wootton DG, Chalder T, Davies MJ, De Soyza A, Geddes JR, Greenhalf W, Heller S, Howard LS, Jacob J, Jenkins RG, Lord JM, Man WD, McCann GP, Neubauer S, Openshaw PJ, Porter JC, Rowland MJ, Scott JT, Semple MG, Singh SJ, Thomas DC, Toshner M, Smith N, Sheikh A, Brightling CE, Wain LV, Evans RA; PHOSP-COVID Collaborative Group. Elneima O, et al. Int J Epidemiol. 2024 Feb 1;53(1):dyad165. doi: 10.1093/ije/dyad165. Int J Epidemiol. 2024. PMID: 39429158 Free PMC article. No abstract available.
Posthospitalization COVID-19 cognitive deficits at 1 year are global and associated with elevated brain injury markers and gray matter volume reduction.
Wood GK, Sargent BF, Ahmad ZU, Tharmaratnam K, Dunai C, Egbe FN, Martin NH, Facer B, Pendered SL, Rogers HC, Hübel C, van Wamelen DJ, Bethlehem RAI, Giunchiglia V, Hellyer PJ, Trender W, Kalsi G, Needham E, Easton A, Jackson TA, Cunningham C, Upthegrove R, Pollak TA, Hotopf M, Solomon T, Pett SL, Shaw PJ, Wood N, Harrison NA, Miller KL, Jezzard P, Williams G, Duff EP, Williams S, Zelaya F, Smith SM, Keller S, Broome M, Kingston N, Husain M, Vincent A, Bradley J, Chinnery P, Menon DK, Aggleton JP, Nicholson TR, Taylor JP, David AS, Carson A, Bullmore E, Breen G, Hampshire A; COVID-CNS Consortium; Michael BD, Paddick SM, Leek EC. Wood GK, et al. Among authors: taylor jp. Nat Med. 2024 Sep 23. doi: 10.1038/s41591-024-03309-8. Online ahead of print. Nat Med. 2024. PMID: 39312956
591 results