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Page 1
Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
Lundtoft C, Eriksson D, Bianchi M, Aranda-Guillén M, Landegren N, Rantapää-Dahlqvist S, Söderkvist P, Meadows JRS; DISSECT Consortium; ImmunoArray Consortium; Swedish Addison Registry Study Group; Bensing S, Pielberg GR, Lindblad-Toh K, Rönnblom L, Kämpe O. Lundtoft C, et al. Among authors: meadows jrs. Eur J Endocrinol. 2023 Aug 2;189(2):235-241. doi: 10.1093/ejendo/lvad102. Eur J Endocrinol. 2023. PMID: 37553728 Free article.
Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome.
Thorlacius GE, Hultin-Rosenberg L, Sandling JK, Bianchi M, Imgenberg-Kreuz J, Pucholt P, Theander E, Kvarnström M, Forsblad-d'Elia H, Bucher SM, Norheim KB, Johnsen SJA, Hammenfors D, Skarstein K, Jonsson MV, Baecklund E, Aqrawi LA, Jensen JL, Palm Ø, Morris AP; DISSECT consortium; the ImmunoArray consortium; Meadows JRS, Rantapää-Dahlqvist S, Mandl T, Eriksson P, Lind L, Omdal R, Jonsson R, Lindblad-Toh K, Rönnblom L, Wahren-Herlenius M, Nordmark G. Thorlacius GE, et al. Among authors: meadows jrs. Rheumatology (Oxford). 2021 Feb 1;60(2):837-848. doi: 10.1093/rheumatology/keaa367. Rheumatology (Oxford). 2021. PMID: 32889544 Free PMC article.
Leveraging base-pair mammalian constraint to understand genetic variation and human disease.
Sullivan PF, Meadows JRS, Gazal S, Phan BN, Li X, Genereux DP, Dong MX, Bianchi M, Andrews G, Sakthikumar S, Nordin J, Roy A, Christmas MJ, Marinescu VD, Wang C, Wallerman O, Xue J, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins LM, Lawler A, Keough KC, Zheng Z, Zeng J, Wray NR, Li Y, Johnson J, Chen J; Zoonomia Consortium§; Paten B, Reilly SK, Hughes GM, Weng Z, Pollard KS, Pfenning AR, Forsberg-Nilsson K, Karlsson EK, Lindblad-Toh K. Sullivan PF, et al. Among authors: meadows jrs. Science. 2023 Apr 28;380(6643):eabn2937. doi: 10.1126/science.abn2937. Epub 2023 Apr 28. Science. 2023. PMID: 37104612 Free PMC article.
Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs.
Rohdin C, Wang C, Brander G, Rondahl V, Karlsson Å, Friling L, Fischetti A, Meadows J, Häggström J, Jäderlund KH, Ljungvall I, Lindblad-Toh K. Rohdin C, et al. J Vet Intern Med. 2023 Jul-Aug;37(4):1507-1513. doi: 10.1111/jvim.16791. Epub 2023 Jun 9. J Vet Intern Med. 2023. PMID: 37293695 Free PMC article.
Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies.
Leclair V, Galindo-Feria AS, Rothwell S, Kryštůfková O, Zargar SS, Mann H, Diederichsen LP, Andersson H, Klein M, Tansley S, Rönnblom L, Lindblad-Toh K, Syvänen AC, Wahren-Herlenius M, Sandling JK; Dissect Consortium and The Immunoarray Development Consortium; McHugh N, Lamb JA, Vencovský J, Chinoy H, Holmqvist M, Bianchi M, Padyukov L, Lundberg IE, Diaz-Gallo LM. Leclair V, et al. EBioMedicine. 2023 Oct;96:104804. doi: 10.1016/j.ebiom.2023.104804. Epub 2023 Sep 26. EBioMedicine. 2023. PMID: 37769433 Free PMC article.
The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population.
Lundtoft C, Knight A, Meadows JRS, Karlsson Å, Rantapää-Dahlqvist S, Berglin E, Palm Ø, Haukeland H, Gunnarsson I, Bruchfeld A, Segelmark M, Ohlsson S, Mohammad AJ, Eriksson P, Söderkvist P, Ronnblom L, Omdal R, Jonsson R, Lindblad-Toh K, Dahlqvist J. Lundtoft C, et al. Among authors: meadows jrs. RMD Open. 2024 Apr 4;10(2):e004039. doi: 10.1136/rmdopen-2023-004039. RMD Open. 2024. PMID: 38580345 Free PMC article.
The functional and evolutionary impacts of human-specific deletions in conserved elements.
Xue JR, Mackay-Smith A, Mouri K, Garcia MF, Dong MX, Akers JF, Noble M, Li X; Zoonomia Consortium†; Lindblad-Toh K, Karlsson EK, Noonan JP, Capellini TD, Brennand KJ, Tewhey R, Sabeti PC, Reilly SK. Xue JR, et al. Science. 2023 Apr 28;380(6643):eabn2253. doi: 10.1126/science.abn2253. Epub 2023 Apr 28. Science. 2023. PMID: 37104592 Free PMC article.
Evolutionary constraint and innovation across hundreds of placental mammals.
Christmas MJ, Kaplow IM, Genereux DP, Dong MX, Hughes GM, Li X, Sullivan PF, Hindle AG, Andrews G, Armstrong JC, Bianchi M, Breit AM, Diekhans M, Fanter C, Foley NM, Goodman DB, Goodman L, Keough KC, Kirilenko B, Kowalczyk A, Lawless C, Lind AL, Meadows JRS, Moreira LR, Redlich RW, Ryan L, Swofford R, Valenzuela A, Wagner F, Wallerman O, Brown AR, Damas J, Fan K, Gatesy J, Grimshaw J, Johnson J, Kozyrev SV, Lawler AJ, Marinescu VD, Morrill KM, Osmanski A, Paulat NS, Phan BN, Reilly SK, Schäffer DE, Steiner C, Supple MA, Wilder AP, Wirthlin ME, Xue JR; Zoonomia Consortium§; Birren BW, Gazal S, Hubley RM, Koepfli KP, Marques-Bonet T, Meyer WK, Nweeia M, Sabeti PC, Shapiro B, Smit AFA, Springer MS, Teeling EC, Weng Z, Hiller M, Levesque DL, Lewin HA, Murphy WJ, Navarro A, Paten B, Pollard KS, Ray DA, Ruf I, Ryder OA, Pfenning AR, Lindblad-Toh K, Karlsson EK. Christmas MJ, et al. Among authors: meadows jrs. Science. 2023 Apr 28;380(6643):eabn3943. doi: 10.1126/science.abn3943. Epub 2023 Apr 28. Science. 2023. PMID: 37104599 Free PMC article.
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning.
Kaplow IM, Lawler AJ, Schäffer DE, Srinivasan C, Sestili HH, Wirthlin ME, Phan BN, Prasad K, Brown AR, Zhang X, Foley K, Genereux DP; Zoonomia Consortium**; Karlsson EK, Lindblad-Toh K, Meyer WK, Pfenning AR. Kaplow IM, et al. Science. 2023 Apr 28;380(6643):eabm7993. doi: 10.1126/science.abm7993. Epub 2023 Apr 28. Science. 2023. PMID: 37104615 Free PMC article.
60 results