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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: dewan r. 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.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 Free PMC article.
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types.
Saez-Atienzar S, Bandres-Ciga S, Langston RG, Kim JJ, Choi SW, Reynolds RH; International ALS Genomics Consortium; ITALSGEN; Abramzon Y, Dewan R, Ahmed S, Landers JE, Chia R, Ryten M, Cookson MR, Nalls MA, Chiò A, Traynor BJ. Saez-Atienzar S, et al. Among authors: dewan r. Sci Adv. 2021 Jan 15;7(3):eabd9036. doi: 10.1126/sciadv.abd9036. Print 2021 Jan. Sci Adv. 2021. PMID: 33523907 Free PMC article.
Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis.
Abramzon Y, Dewan R, Cortese A, Resnick S, Ferrucci L, Houlden H, Traynor BJ. Abramzon Y, et al. Among authors: dewan r. J Neurol Sci. 2021 Nov 15;430:118061. doi: 10.1016/j.jns.2021.118061. Epub 2021 Aug 31. J Neurol Sci. 2021. PMID: 34537679 Free PMC article.
Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.
Hickman RA, Dewan R, Cortes E, Traynor BJ, Marder K, Vonsattel JP. Hickman RA, et al. Among authors: dewan r. Acta Neuropathol. 2022 Jan;143(1):105-108. doi: 10.1007/s00401-021-02385-1. Epub 2021 Nov 20. Acta Neuropathol. 2022. PMID: 34800149 Free PMC article. No abstract available.
ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
Glass JD, Dewan R, Ding J, Gibbs JR, Dalgard C, Keagle PJ, Shankaracharya, García-Redondo A, Traynor BJ, Chia R, Landers JE. Glass JD, et al. Among authors: dewan r. Brain. 2022 Aug 27;145(8):2671-2676. doi: 10.1093/brain/awac167. Brain. 2022. PMID: 35521889 Free PMC article.
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
Kolmogorov M, Billingsley KJ, Mastoras M, Meredith M, Monlong J, Lorig-Roach R, Asri M, Alvarez Jerez P, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P, Yang J, Rhie A, Scholz SW, Traynor BJ, Miga KH, Jain M, Timp W, Phillippy AM, Chaisson M, Sedlazeck FJ, Blauwendraat C, Paten B. Kolmogorov M, et al. Among authors: dewan r. Nat Methods. 2023 Oct;20(10):1483-1492. doi: 10.1038/s41592-023-01993-x. Epub 2023 Sep 14. Nat Methods. 2023. PMID: 37710018
169 results