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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: bianchi m. Science. 2023 Apr 28;380(6643):eabn2937. doi: 10.1126/science.abn2937. Epub 2023 Apr 28. Science. 2023. PMID: 37104612 Free PMC article.
cgmisc: enhanced genome-wide association analyses and visualization.
Kierczak M, Jabłońska J, Forsberg SK, Bianchi M, Tengvall K, Pettersson M, Scholz V, Meadows JR, Jern P, Carlborg Ö, Lindblad-Toh K. Kierczak M, et al. Among authors: bianchi m. Bioinformatics. 2015 Dec 1;31(23):3830-1. doi: 10.1093/bioinformatics/btv426. Epub 2015 Aug 6. Bioinformatics. 2015. PMID: 26249815 Free PMC article.
A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12.
Bianchi M, Dahlgren S, Massey J, Dietschi E, Kierczak M, Lund-Ziener M, Sundberg K, Thoresen SI, Kämpe O, Andersson G, Ollier WE, Hedhammar Å, Leeb T, Lindblad-Toh K, Kennedy LJ, Lingaas F, Rosengren Pielberg G. Bianchi M, et al. PLoS One. 2015 Aug 11;10(8):e0134720. doi: 10.1371/journal.pone.0134720. eCollection 2015. PLoS One. 2015. PMID: 26261983 Free PMC article.
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.
Eriksson D, Bianchi M, Landegren N, Dalin F, Skov J, Hultin-Rosenberg L, Mathioudaki A, Nordin J, Hallgren Å, Andersson G, Tandre K, Rantapää Dahlqvist S, Söderkvist P, Rönnblom L, Hulting AL, Wahlberg J, Dahlqvist P, Ekwall O, Meadows JRS, Lindblad-Toh K, Bensing S, Rosengren Pielberg G, Kämpe O. Eriksson D, et al. Among authors: bianchi m. Sci Rep. 2018 May 30;8(1):8395. doi: 10.1038/s41598-018-26842-2. Sci Rep. 2018. PMID: 29849176 Free PMC 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: bianchi m. Rheumatology (Oxford). 2021 Feb 1;60(2):837-848. doi: 10.1093/rheumatology/keaa367. Rheumatology (Oxford). 2021. PMID: 32889544 Free PMC article.
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK, Pucholt P, Hultin Rosenberg L, Farias FHG, Kozyrev SV, Eloranta ML, Alexsson A, Bianchi M, Padyukov L, Bengtsson C, Jonsson R, Omdal R, Lie BA, Massarenti L, Steffensen R, Jakobsen MA, Lillevang ST; ImmunoArray Development Consortium and DISSECT consortium; Lerang K, Molberg Ø, Voss A, Troldborg A, Jacobsen S, Syvänen AC, Jönsen A, Gunnarsson I, Svenungsson E, Rantapää-Dahlqvist S, Bengtsson AA, Sjöwall C, Leonard D, Lindblad-Toh K, Rönnblom L. Sandling JK, et al. Among authors: bianchi m. Ann Rheum Dis. 2021 Jan;80(1):109-117. doi: 10.1136/annrheumdis-2020-218636. Epub 2020 Oct 9. Ann Rheum Dis. 2021. PMID: 33037003 Free PMC article.
Contribution of Rare Genetic Variation to Disease Susceptibility in a Large Scandinavian Myositis Cohort.
Bianchi M, Kozyrev SV, Notarnicola A, Hultin Rosenberg L, Karlsson Å, Pucholt P, Rothwell S, Alexsson A, Sandling JK, Andersson H, Cooper RG, Padyukov L, Tjärnlund A, Dastmalchi M; ImmunoArray Development Consortium; DISSECT Consortium; Meadows JRS, Pyndt Diederichsen L, Molberg Ø, Chinoy H, Lamb JA, Rönnblom L, Lindblad-Toh K, Lundberg IE. Bianchi M, et al. Arthritis Rheumatol. 2022 Feb;74(2):342-352. doi: 10.1002/art.41929. Epub 2021 Dec 23. Arthritis Rheumatol. 2022. PMID: 34279065
Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA.
Dahlqvist J, Ekman D, Sennblad B, Kozyrev SV, Nordin J, Karlsson Å, Meadows JRS, Hellbacher E, Rantapää-Dahlqvist S, Berglin E, Stegmayr B, Baslund B, Palm Ø, Haukeland H, Gunnarsson I, Bruchfeld A, Segelmark M, Ohlsson S, Mohammad AJ, Svärd A, Pullerits R, Herlitz H, Söderbergh A, Rosengren Pielberg G, Hultin Rosenberg L, Bianchi M, Murén E, Omdal R, Jonsson R, Eloranta ML, Rönnblom L, Söderkvist P, Knight A, Eriksson P, Lindblad-Toh K. Dahlqvist J, et al. Among authors: bianchi m. Rheumatology (Oxford). 2022 Aug 3;61(8):3461-3470. doi: 10.1093/rheumatology/keab912. Rheumatology (Oxford). 2022. PMID: 34888651 Free PMC article.
Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease.
Yavuz S, Pucholt P, Sandling JK, Bianchi M, Leonard D, Bolin K, Imgenberg-Kreuz J, Eloranta ML, Kozyrev SV, Lanata CM, Jönsen A, Bengtsson AA, Sjöwall C, Svenungsson E, Gunnarsson I, Rantapää-Dahlqvist S; ImmunoArray Development Consortium; DISSECT Consortium; Nititham J, Criswell LA, Lindblad-Toh K, Rönnblom L. Yavuz S, et al. Among authors: bianchi m. Lupus Sci Med. 2022 Nov;9(1):e000752. doi: 10.1136/lupus-2022-000752. Lupus Sci Med. 2022. PMID: 36332927 Free PMC article.
2,537 results