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Analysis of rare Parkinson's disease variants in millions of people.
Pitz V, Makarious MB, Bandres-Ciga S, Iwaki H; 23andMe Research Team; Singleton AB, Nalls M, Heilbron K, Blauwendraat C. Pitz V, et al. NPJ Parkinsons Dis. 2024 Jan 8;10(1):11. doi: 10.1038/s41531-023-00608-8. NPJ Parkinsons Dis. 2024. PMID: 38191580 Free PMC article.
Investigation of the genetic aetiology of Lewy body diseases with and without dementia.
Wu L, Real R, Martinez A, Chia R, Lawton MA, Shoai M, Bresner C, Hubbard L, Blauwendraat C, Singleton AB, Ryten M, Scholz SW, Traynor BJ, Williams N, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR; International LBD Genomic Consortium. Wu L, et al. medRxiv [Preprint]. 2023 Oct 27:2023.10.17.23297157. doi: 10.1101/2023.10.17.23297157. medRxiv. 2023. PMID: 37987016 Free PMC article. Preprint.
Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
Daida K, Funayama M, Billingsley KJ, Malik L, Miano-Burkhardt A, Leonard HL, Makarious MB, Iwaki H, Ding J, Gibbs JR, Ishiguro M, Yoshino H, Ogaki K, Oyama G, Nishioka K, Nonaka R, Akamatsu W, Blauwendraat C, Hattori N. Daida K, et al. Mov Disord. 2023 Dec;38(12):2249-2257. doi: 10.1002/mds.29610. Epub 2023 Nov 5. Mov Disord. 2023. PMID: 37926948
Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.
Daida K, Funayama M, Billingsley KJ, Malik L, Miano-Burkhardt A, Leonard HL, Makarious MB, Iwaki H, Ding J, Gibbs JR, Ishiguro M, Yoshino H, Ogaki K, Oyama G, Nishioka K, Nonaka R, Akamatsu W, Blauwendraat C, Hattori N. Daida K, et al. medRxiv [Preprint]. 2023 Aug 21:2023.08.14.23293948. doi: 10.1101/2023.08.14.23293948. medRxiv. 2023. PMID: 37790330 Free PMC article. Updated. Preprint.
49 results