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Page 1
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
Easteal S, Arkell RM, Balboa RF, Bellingham SA, Brown AD, Calma T, Cook MC, Davis M, Dawkins HJS, Dinger ME, Dobbie MS, Farlow A, Gwynne KG, Hermes A, Hoy WE, Jenkins MR, Jiang SH, Kaplan W, Leslie S, Llamas B, Mann GJ, McMorran BJ, McWhirter RE, Meldrum CJ, Nagaraj SH, Newman SJ, Nunn JS, Ormond-Parker L, Orr NJ, Paliwal D, Patel HR, Pearson G, Pratt GR, Rambaldini B, Russell LW, Savarirayan R, Silcocks M, Skinner JC, Souilmi Y, Vinuesa CG; National Centre for Indigenous Genomics; Baynam G. Easteal S, et al. Among authors: jiang sh. Am J Hum Genet. 2020 Aug 6;107(2):175-182. doi: 10.1016/j.ajhg.2020.06.005. Am J Hum Genet. 2020. PMID: 32763188 Free PMC article.
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
Jiang SH, Athanasopoulos V, Ellyard JI, Chuah A, Cappello J, Cook A, Prabhu SB, Cardenas J, Gu J, Stanley M, Roco JA, Papa I, Yabas M, Walters GD, Burgio G, McKeon K, Byers JM, Burrin C, Enders A, Miosge LA, Canete PF, Jelusic M, Tasic V, Lungu AC, Alexander SI, Kitching AR, Fulcher DA, Shen N, Arsov T, Gatenby PA, Babon JJ, Mallon DF, de Lucas Collantes C, Stone EA, Wu P, Field MA, Andrews TD, Cho E, Pascual V, Cook MC, Vinuesa CG. Jiang SH, et al. Nat Commun. 2019 May 17;10(1):2201. doi: 10.1038/s41467-019-10242-9. Nat Commun. 2019. PMID: 31101814 Free PMC article.
Non-parametric Heat Map Representation of Flow Cytometry Data: Identifying Cellular Changes Associated With Genetic Immunodeficiency Disorders.
Ellyard JI, Tunningley R, Lorenzo AM, Jiang SH, Cook A, Chand R, Talaulikar D, Hatch AM, Wilson A, Vinuesa CG, Cook MC, Fulcher DA. Ellyard JI, et al. Among authors: jiang sh. Front Immunol. 2019 Sep 11;10:2134. doi: 10.3389/fimmu.2019.02134. eCollection 2019. Front Immunol. 2019. PMID: 31572362 Free PMC article. Clinical Trial.
Rare genetic variants in systemic autoimmunity.
Jiang SH, Stanley M, Vinuesa CG. Jiang SH, et al. Immunol Cell Biol. 2020 Jul;98(6):490-499. doi: 10.1111/imcb.12339. Epub 2020 May 16. Immunol Cell Biol. 2020. PMID: 32315078 Review.
Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease.
Jiang SH, Mercan S, Papa I, Moldovan M, Walters GD, Koina M, Fadia M, Stanley M, Lea-Henry T, Cook A, Ellyard J, McMorran B, Sundaram M, Thomson R, Canete PF, Hoy W, Hutton H, Srivastava M, McKeon K, de la Rúa Figueroa I, Cervera R, Faria R, D'Alfonso S, Gatto M, Athanasopoulos V, Field M, Mathews J, Cho E, Andrews TD, Kitching AR, Cook MC, Riquelme MA, Bahlo M, Vinuesa CG. Jiang SH, et al. Cell Rep Med. 2021 Dec 21;2(12):100475. doi: 10.1016/j.xcrm.2021.100475. eCollection 2021 Dec 21. Cell Rep Med. 2021. PMID: 35028616 Free PMC article.
P2RY8 variants in lupus patients uncover a role for the receptor in immunological tolerance.
He Y, Gallman AE, Xie C, Shen Q, Ma J, Wolfreys FD, Sandy M, Arsov T, Wu X, Qin Y, Zhang P, Jiang S, Stanley M, Wu P, Tan J, Ding H, Xue H, Chen W, Xu J, Criswell LA, Nititham J, Adamski M, Kitching AR, Cook MC, Cao L, Shen N, Cyster JG, Vinuesa CG. He Y, et al. J Exp Med. 2022 Jan 3;219(1):e20211004. doi: 10.1084/jem.20211004. Epub 2021 Dec 10. J Exp Med. 2022. PMID: 34889940 Free PMC article.
DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency.
Turnbull C, Bones J, Stanley M, Medhavy A, Wang H, Lorenzo AMD, Cappello J, Shanmuganandam S, Pandey A, Seneviratne S, Brown GJ, Meng X, Fulcher D, Burgio G, Man SM, de Lucas Collantes C, Gasior M, López Granados E, Martin P, Jiang SH, Cook MC, Ellyard JI, Athanasopoulos V, Corry B, Canete PF, Vinuesa CG. Turnbull C, et al. Among authors: jiang sh. Sci Adv. 2023 Dec 8;9(49):eadi9566. doi: 10.1126/sciadv.adi9566. Epub 2023 Dec 6. Sci Adv. 2023. PMID: 38055819 Free PMC article.
Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing.
Ellyard JI, Jerjen R, Martin JL, Lee AY, Field MA, Jiang SH, Cappello J, Naumann SK, Andrews TD, Scott HS, Casarotto MG, Goodnow CC, Chaitow J, Pascual V, Hertzog P, Alexander SI, Cook MC, Vinuesa CG. Ellyard JI, et al. Among authors: jiang sh. Arthritis Rheumatol. 2014 Dec;66(12):3382-6. doi: 10.1002/art.38824. Arthritis Rheumatol. 2014. PMID: 25138095
358 results