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Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.
Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Li C, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Compta Y, Leung YY, Coppola G, Naj AC, Wang LS; PSP Genetics Study Group; Dalgard C, Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP. Wang H, et al. Mov Disord. 2025 May;40(5):950-961. doi: 10.1002/mds.30150. Epub 2025 Mar 8. Mov Disord. 2025. PMID: 40055946 Free article.
Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset.
Leung YY, Lee WP, Kuzma AB, Nicaretta H, Valladares O, Gangadharan P, Qu L, Zhao Y, Ren Y, Cheng PL, Kuksa PP, Wang H, White H, Katanic Z, Bass L, Saravanan N, Greenfest-Allen E, Kirsch M, Cantwell L, Iqbal T, Wheeler NR, Farrell JJ, Zhu C, Turner SL, Gunasekaran TI, Mena PR, Jin Y, Carter L; Alzheimer's Disease Sequencing Project; Zhang X, Vardarajan BN, Toga A, Cuccaro M, Hohman TJ, Bush WS, Naj AC, Martin E, Dalgard CL, Kunkle BW, Farrer LA, Mayeux RP, Haines JL, Pericak-Vance MA, Schellenberg GD, Wang LS. Leung YY, et al. Alzheimers Dement. 2025 May;21(5):e70237. doi: 10.1002/alz.70237. Alzheimers Dement. 2025. PMID: 40407102 Free PMC article.