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Works (6)

Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells

Movement Disorders
2025-03-08 | Journal article
DOI: 10.1002/mds.30150
Contributors: Hui Wang; Timothy S. Chang; Beth A. Dombroski; Po‐Liang Cheng; Ya‐Qin Si; Albert Tucci; Vishakha Patil; Leopoldo Valiente‐Banuet; Chong Li; Kurt Farrell et al.
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A comparative study of structural variant calling in WGS from Alzheimer’s disease families

Life Science Alliance
2024-05 | Journal article
DOI: 10.26508/lsa.202302181
Contributors: John S Malamon; John J Farrell; Li Charlie Xia; Beth A Dombroski; Rueben G Das; Jessica Way; Amanda B Kuzma; Otto Valladares; Yuk Yee Leung; Allison J Scanlon et al.
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Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer’s Diseases Sequencing Project Subjects

2023-09-13 | Preprint
DOI: 10.1101/2023.09.13.23295505
Contributors: Hui Wang; Beth A Dombroski; Po-Liang Cheng; Albert Tucci; Ya-Qin Si; John J Farrell; Jung-Ying Tzeng; Yuk Yee Leung; John S Malamon; Li-San Wang et al.
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Association of Common and Rare Variants with Alzheimer’s Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer’s Disease Sequencing Project

2023-09-02 | Preprint
DOI: 10.1101/2023.09.01.23294953
Contributors: Wan-Ping Lee; Seung Hoan Choi; Margaret G Shea; Po-Liang Cheng; Beth A Dombroski; Achilleas N Pitsillides; Nancy L Heard-Costa; Hui Wang; Katia Bulekova; Amanda B Kuzma et al.
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Genetic variations inEIF2AK3are associated with neurocognitive impairment in people living with HIV

2022-04-23 | Preprint
DOI: 10.1101/2022.04.20.22273997
Contributors: Cagla Akay-Espinoza; Sarah Bond; Beth A. Dombroski; Asha Kallianpur; Ajay Bharti; Donald R. Franklin; Gerard D. Schellenberg; Robert K. Heaton; Igor Grant; Ronald J. Ellis et al.
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TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy

Science Advances
2021-11-05 | Journal article
DOI: 10.1126/sciadv.abg3897
Contributors: Carolina Alquezar; Kathleen M. Schoch; Ethan G. Geier; Eliana Marisa Ramos; Aurora Scrivo; Kathy H. Li; Andrea R. Argouarch; Elisabeth E. Mlynarski; Beth Dombroski; Michael DeTure et al.
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