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Page 1
Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.
Gorman BR, Voloudakis G, Igo RP Jr, Kinzy T, Halladay CW, Bigdeli TB, Zeng B, Venkatesh S, Cooke Bailey JN, Crawford DC, Markianos K, Dong F, Schreiner PA, Zhang W; VA Million Veteran Program; International AMD Genomics Consortium (IAMDGC); Hadi T, Anger MD, Stockwell A, Melles RB, Yin J, Choquet H, Kaye R, Patasova K, Patel PJ, Yaspan BL, Jorgenson E, Hysi PG, Lotery AJ, Gaziano JM, Tsao PS, Fliesler SJ, Sullivan JM, Greenberg PB, Wu WC, Assimes TL, Pyarajan S, Roussos P, Peachey NS, Iyengar SK. Gorman BR, et al. Among authors: yaspan bl. Nat Genet. 2024 Dec;56(12):2659-2671. doi: 10.1038/s41588-024-01764-0. Epub 2024 Dec 2. Nat Genet. 2024. PMID: 39623103
SLC16A8 is a causal contributor to age-related macular degeneration risk.
Nouri N, Gussler BH, Stockwell A, Truong T, Kang GJ, Browder KC, Malato Y, Sene A, Van Everen S, Wykoff CC, Brown D, Fu A, Palmer JD, Lima de Carvalho JR, Ullah E, Al Rawi R, Chew EY, Zein WM, Guan B, McCarthy MI, Hofmann JW, Chaney SY, Jasper H, Yaspan BL. Nouri N, et al. Among authors: yaspan bl. NPJ Genom Med. 2024 Oct 28;9(1):50. doi: 10.1038/s41525-024-00442-8. NPJ Genom Med. 2024. PMID: 39468037 Free PMC article.
Systematic perturbation screens identify regulators of inflammatory macrophage states and a role for TNF mRNA m6A modification.
Haag SM, Xie S, Eidenschenk C, Fortin JP, Callow M, Costa M, Lun A, Cox C, Wu SZ, Pradhan RN, Lock J, Kuhn JA, Holokai L, Thai M, Freund E, Nissenbaum A, Keir M, Bohlen CJ, Martin S, Geiger-Schuller K, Hejase HA, Yaspan BL, Melo Carlos S, Turley SJ, Murthy A. Haag SM, et al. Among authors: yaspan bl. Nat Genet. 2024 Nov;56(11):2493-2505. doi: 10.1038/s41588-024-01962-w. Epub 2024 Oct 23. Nat Genet. 2024. PMID: 39443811
Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1 /lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvement.
Farashi S, Abbott CJ, Ansell BR, Wu Z, Altay L, Arnon E, Arnould L, Bagdasarova Y, Balaskas K, Chen FK, Chew E, Chowers I, Clarke S, Cukras C, Delcourt C, Delyfer MN, den Hollander AI, Fauser S, Finger RP, Gabrielle PH, Han J, Hodgson LA, Hogg R, Holz FG, Hoyng C, Kumar H, Lad EM, Lee A, Luhmann UF, Mauschitz MM, McKnight AJ, McLenachan S, Mishra A, Moghul I, Orozco LD, Sampson DM, Scott LW, Sitnilska V, Song S, Stockwell A, Swaroop A, Terheyden JH, Tiosano L, Tufail A, Yaspan BL; MACUSTAR consortium; NICOLA consortium; Pébay A, Fletcher EL, Guymer RH, Bahlo M. Farashi S, et al. Among authors: yaspan bl. medRxiv [Preprint]. 2024 Sep 28:2024.09.26.24314339. doi: 10.1101/2024.09.26.24314339. medRxiv. 2024. PMID: 39399049 Free PMC article. Preprint.
Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis.
Guillen-Guio B, Paynton ML, Allen RJ, Chin DPW, Donoghue LJ, Stockwell A, Leavy OC, Hernandez-Beeftink T, Reynolds C, Cullinan P, Martinez F, Booth HL, Fahy WA, Hall IP, Hart SP, Hill MR, Hirani N, Hubbard RB, McAnulty RJ, Millar AB, Navaratnam V, Oballa E, Parfrey H, Saini G, Sayers I, Tobin MD, Whyte MKB, Adegunsoye A, Kaminski N, Ma SF, Strek ME, Zhang Y, Fingerlin TE, Molina-Molina M, Neighbors M, Sheng XR, Oldham JM, Maher TM, Molyneaux PL, Flores C, Noth I, Schwartz DA, Yaspan BL, Jenkins RG, Wain LV, Hollox EJ. Guillen-Guio B, et al. Among authors: yaspan bl. ERJ Open Res. 2024 Feb 19;10(1):00553-2023. doi: 10.1183/23120541.00553-2023. eCollection 2024 Jan. ERJ Open Res. 2024. PMID: 38375425 Free PMC article.
Genome-wide SNP-sex interaction analysis of susceptibility to idiopathic pulmonary fibrosis.
Leavy OC, Goemans AF, Stockwell AD, Allen RJ, Guillen-Guio B, Hernandez-Beeftink T, Adegunsoye A, Booth HL; CleanUP-IPF Investigators of the Pulmonary Trials Cooperative; Cullinan P, Fahy WA, Fingerlin TE, Virk HS, Hall IP, Hart SP, Hill MR, Hirani N, Hubbard RB, Kaminski N, Ma SF, McAnulty RJ, Sheng XR, Millar AB, Molina-Molina M, Navaratnam V, Neighbors M, Parfrey H, Saini G, Sayers I, Strek ME, Tobin MD, Whyte MK, Zhang Y, Maher TM, Molyneaux PL, Oldham JM, Yaspan BL, Flores C, Martinez F, Reynolds CJ, Schwartz DA, Noth I, Jenkins RG, Wain LV. Leavy OC, et al. Among authors: yaspan bl. medRxiv [Preprint]. 2024 Jan 15:2024.01.12.24301204. doi: 10.1101/2024.01.12.24301204. medRxiv. 2024. PMID: 38293162 Free PMC article. Preprint.
Multi-ancestry GWAS analysis identifies two novel loci associated with diabetic eye disease and highlights APOL1 as a high risk locus in patients with diabetic macular edema.
Stockwell AD, Chang MC, Mahajan A, Forrest W, Anegondi N, Pendergrass RK, Selvaraj S, Reeder J, Wei E, Iglesias VA, Creps NM, Macri L, Neeranjan AN, van der Brug MP, Scales SJ, McCarthy MI, Yaspan BL. Stockwell AD, et al. Among authors: yaspan bl. PLoS Genet. 2023 Aug 16;19(8):e1010609. doi: 10.1371/journal.pgen.1010609. eCollection 2023 Aug. PLoS Genet. 2023. PMID: 37585454 Free PMC article.
Association study of human leukocyte antigen (HLA) variants and idiopathic pulmonary fibrosis.
Guillen-Guio B, Paynton ML, Allen RJ, Chin DPW, Donoghue LJ, Stockwell A, Leavy OC, Hernandez-Beeftink T, Reynolds C, Cullinan P, Martinez F; CleanUP-IPF Investigators of the Pulmonary Trials Cooperative; Booth HL, Fahy WA, Hall IP, Hart SP, Hill MR, Hirani N, Hubbard RB, McAnulty RJ, Millar AB, Navaratnam V, Oballa E, Parfrey H, Saini G, Sayers I, Tobin MD, Whyte MKB, Adegunsoye A, Kaminski N, Shwu-Fan M, Strek ME, Zhang Y, Fingerlin TE, Molina-Molina M, Neighbors M, Sheng XR, Oldham JM, Maher TM, Molyneaux PL, Flores C, Noth I, Schwartz DA, Yaspan BL, Jenkins RG, Wain LV, Hollox EJ. Guillen-Guio B, et al. Among authors: yaspan bl. medRxiv [Preprint]. 2023 Jul 24:2023.07.20.23292940. doi: 10.1101/2023.07.20.23292940. medRxiv. 2023. Update in: ERJ Open Res. 2024 Feb 19;10(1):00553-2023. doi: 10.1183/23120541.00553-2023 PMID: 37546732 Free PMC article. Updated. Preprint.
A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration.
Orozco LD, Owen LA, Hofmann J, Stockwell AD, Tao J, Haller S, Mukundan VT, Clarke C, Lund J, Sridhar A, Mayba O, Barr JL, Zavala RA, Graves EC, Zhang C, Husami N, Finley R, Au E, Lillvis JH, Farkas MH, Shakoor A, Sherva R, Kim IK, Kaminker JS, Townsend MJ, Farrer LA, Yaspan BL, Chen HH, DeAngelis MM. Orozco LD, et al. Among authors: yaspan bl. Cell Genom. 2023 Apr 18;3(6):100302. doi: 10.1016/j.xgen.2023.100302. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388919 Free PMC article.
63 results