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Genetic risk factors in Parkinson's disease.
Billingsley KJ, Bandres-Ciga S, Saez-Atienzar S, Singleton AB. Billingsley KJ, et al. Cell Tissue Res. 2018 Jul;373(1):9-20. doi: 10.1007/s00441-018-2817-y. Epub 2018 Mar 13. Cell Tissue Res. 2018. PMID: 29536161 Free PMC article. Review.
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.
Zhu W, Huang X, Yoon E, Bandres-Ciga S, Blauwendraat C, Billingsley KJ, Cade JH, Wu BP, Williams VH, Schindler AB, Brooks J, Gibbs JR, Hernandez DG, Ehrlich D, Singleton AB, Narendra DP. Zhu W, et al. Among authors: billingsley kj. Brain. 2022 Jun 30;145(6):2077-2091. doi: 10.1093/brain/awab456. Brain. 2022. PMID: 35640906 Free PMC article.
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
Alvarez Jerez P, Daida K, Miano-Burkhardt A, Iwaki H, Malik L, Cogan G, Makarious MB, Sullivan R, Vandrovcova J, Ding J, Gibbs JR, Markham A, Nalls MA, Kesharwani RK, Sedlazeck FJ, Casey B, Hardy J, Houlden H, Blauwendraat C, Singleton AB, Billingsley KJ. Alvarez Jerez P, et al. Among authors: billingsley kj. NPJ Parkinsons Dis. 2024 May 24;10(1):108. doi: 10.1038/s41531-024-00723-0. NPJ Parkinsons Dis. 2024. PMID: 38789445 Free PMC article.
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.
Cogan G, Daida K, Billingsley KJ, Tesson C, Forlani S, Jornea L, Arnaud L, Tissier L, LeGuern E, Singleton AB, Ferrien M, Gervais Bernard H, Lesage S, Blauwendraat C, Brice A. Cogan G, et al. Among authors: billingsley kj. medRxiv [Preprint]. 2024 May 3:2024.05.02.24306523. doi: 10.1101/2024.05.02.24306523. medRxiv. 2024. PMID: 38746197 Free PMC article. Preprint.
Assessing methylation detection for primary human tissue using Nanopore sequencing.
Genner R, Akeson S, Meredith M, Jerez PA, Malik L, Baker B, Miano-Burkhardt A; CARD-long-read Team; Paten B, Billingsley KJ, Blauwendraat C, Jain M. Genner R, et al. Among authors: billingsley kj. bioRxiv [Preprint]. 2024 Mar 1:2024.02.29.581569. doi: 10.1101/2024.02.29.581569. bioRxiv. 2024. PMID: 38464144 Free PMC article. Preprint.
Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencing.
Rodriguez I, Rossi NM, Keskus AG, Xie Y, Ahmad T, Bryant A, Lou H, Paredes JG, Milano R, Rao N, Tulsyan S, Boland JF, Luo W, Liu J, O'Hanlon T, Bess J, Mukhina V, Gaykalova D, Yuki Y, Malik L, Billingsley KJ, Blauwendraat C, Carrington M, Yeager M, Mirabello L, Kolmogorov M, Dean M. Rodriguez I, et al. Among authors: billingsley kj. Am J Hum Genet. 2024 Mar 7;111(3):544-561. doi: 10.1016/j.ajhg.2024.01.002. Epub 2024 Feb 1. Am J Hum Genet. 2024. PMID: 38307027
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. Among authors: billingsley kj. 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. Among authors: billingsley kj. 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.
28 results