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Page 1
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Billingsley KJ, Ding J, Jerez PA, Illarionova A, Levine K, Grenn FP, Makarious MB, Moore A, Vitale D, Reed X, Hernandez D, Torkamani A, Ryten M, Hardy J; UK Brain Expression Consortium (UKBEC); Chia R, Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Quinn JP, Bubb VJ, Collins RL, Zhao X, Walker M, Pierce-Hoffman E, Brand H, Talkowski ME, Casey B, Cookson MR, Markham A, Nalls MA, Mahmoud M, Sedlazeck FJ, Blauwendraat C, Gibbs JR, Singleton AB. Billingsley KJ, et al. Among authors: torkamani a. Ann Neurol. 2023 May;93(5):1012-1022. doi: 10.1002/ana.26608. Epub 2023 Feb 3. Ann Neurol. 2023. PMID: 36695634 Free PMC article.
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Kaivola K, et al. Among authors: torkamani a. Cell Genom. 2023 May 4;3(6):100316. doi: 10.1016/j.xgen.2023.100316. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388914 Free PMC article.
Spatial transcriptional landscape of human heart failure.
Lee SE, Joo JH, Hwang HS, Chen SF, Evans D, Lee KY, Kim KH, Hyun J, Kim MS, Jung SH, Kim JJ, Lee JS, Torkamani A. Lee SE, et al. Among authors: torkamani a. Eur Heart J. 2025 May 8:ehaf272. doi: 10.1093/eurheartj/ehaf272. Online ahead of print. Eur Heart J. 2025. PMID: 40335066
Meta-prediction of coronary artery disease risk.
Chen SF, Lee SE, Sadaei HJ, Park JB, Khattab A, Chen JF, Henegar C, Wineinger NE, Muse ED, Torkamani A. Chen SF, et al. Among authors: torkamani a. Nat Med. 2025 Apr 16. doi: 10.1038/s41591-025-03648-0. Online ahead of print. Nat Med. 2025. PMID: 40240837
The impact of TRPV4 pathogenic mutations on barrier integrity.
Sampaio G, Ismaili T, Torkamani A, Breckenridge DG, Katana A, Goldstein DB, Sahdeo S. Sampaio G, et al. Among authors: torkamani a. Hum Mol Genet. 2025 Apr 17;34(9):806-820. doi: 10.1093/hmg/ddaf023. Hum Mol Genet. 2025. PMID: 39964066
155 results