Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

Cited by (142)

Items 101–142 of 142

1. ZCWPW1 loss-of-function variants in Alzheimer’s Disease
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2. HOPS disruption impairs APP trafficking and processing, promoting exosomal secretion of APP-CTFs.
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3. Alzheimer’s disease risk protein SorLA regulates ER homeostasis and lipid metabolism in human microglia, with conserved effects in neurons
   Imdadul Haq, Jason C. Ngo, Nainika Roy, Emily Lee, Muniyat A. Choudhury, Rajesh Kumar Soni, Andrew F. Teich, Richard P Mayeux, Philip L. De Jager, Ye He et al. · 2026 · Acta Neuropathologica
4. Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only
   Emanuela Iovino, Luca Scapoli, Annalisa Palmieri, Rossella Sgarzani, Nayereh Nouri, Agnese Pellati, Francesco Carinci, Marco Seri, Tommaso Pippucci, Marcella Martinelli · 2023 · Biomolecules
5. Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures
   Wei Zhong Zhou, Joel Ås, Catherine Shore‐Lorenti, Hanh H. Nguyen, Denise M van de Laarschot, Shoshana Sztal‐Mazer, Vivian Grill, Christian M. Girgis, Bruno H. Ch. Stricker, Bram C. J. van der Eerden et al. · 2024 · Journal of Bone and Mineral Research
6. Genome sequencing for early-onset dementia: high diagnostic yield and frequent observation of multiple contributory alleles
   J. Nicholas Cochran, Emily McKinley, Meagan Cochran, Michelle D. Amaral, Bryan A. Moyers, Brittany N. Lasseigne, David E. Gray, James M.J. Lawlor, Jeremy W. Prokop, Ethan G. Geier et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
7. [Research Progress in Applying Hyperpolarized 13C Labeling Technology in Neurological Metabolic Diagnostics].
   Changwei He, Hualong He, Xiaofang Yang, Hao-Yang Xing, Su Lyu, Min Wu · 2024 · PubMed Central
8. Die Rolle seltener Varianten bei häufigen Krankheiten
   Kerstin U. Ludwig, Franziska Degenhardt, Markus Maria Nöthen · 2019 · Medizinische Genetik
9. SORLA Expression in Synaptic Plexiform Layers of Mouse Retina
   Giulia Monti, Marianne Lerbech Jensen, Arnela Mehmedbašić, Arne Lund Jørgensen, Ida E. Holm, Pernille Barkholt, Egija Zole, Christian Bjerggaard Vægter, Henrik Vorum, Jens Randel Nyengaard et al. · 2020 · Molecular Neurobiology
10. Association of low-frequency and rare coding variants with information processing speed
    Jan Bressler, Gail Davies, Albert V. Smith, Yasaman Saba, Joshua C. Bis, Xueqiu Jian, Caroline Hayward, Lisa R. Yanek, Jennifer A. Smith, Saira Saeed Mirza et al. · 2021 · Translational Psychiatry
11. Penetrance estimation of SORL1 loss-of-function variants using a family-based strategy adjusted on APOE genotypes suggest a non-monogenic inheritance
    Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, CNRMAJ collaborators, Anne Boland, Jean‐François Deleuze, Robert Olaso, Flora Alarcon et al. · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
12. Rare Variant Aggregation in 148,508 Exomes Identifies Genes Associated with Proxy Alzheimer’s disease/Dementia
    Douglas P. Wightman, Jeanne E. Savage, Christiaan de Leeuw, Iris E. Jansen, Danielle Posthuma B · 2021 · medRxiv
13. SORLA upregulation suppresses global pathological effects in aged tauopathy mouse brain
    Huijie Huang, Christina Huan Shi, Wenqi Yang, Juan Piña-Crespo, Jay Bhatnagar, Julian Curatolo, Rabi Murad, Palak Mayur Shah, Alex Rosa Campos, Alexandra K Houser et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
14. Bridging Arabian Mendelian and Complex Diseases Necessitates Utilizing Modern Bioinformatics
    Osama A Alsmadi, Mohammed Odeh, Iyad Yasin Sultan, Anas Al-okaily, Abdelghani Tbakhi · 2018 · International Conference on Cancer Care Informatics (CCI)
15. Variant Interpretation and Genomic Medicine
    Keren Carss, David B. Goldstein, Vimla S. Aggarwal, Slavé Petrovski · 2019 · Wiley eBooks
16. Understanding the genetic risks of complex diseases using the additive epistatic interaction model: a simulation study
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17. Utilizing functional genomics approaches to characterize risk genes in alopecia areata
    S. Erjavec · 2020
18. Проблемы при реализации креативного менеджмента в организации
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19. Faculty Opinions recommendation of Questions concerning the role of amyloid-β in the definition, aetiology and diagnosis of Alzheimer's disease.
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20. Faculty Opinions recommendation of Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data.
    Jason A. Flannick · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
21. Genetics of Alzheimer’s Disease, Parkinson’s Disease, and Lewy Body Dementia
    Alan Edward Renton, Brian Fulton‐Howard, Shea J. Andrews, Edoardo M. Marcora, Alison Goate · 2025
22. Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene
    Ninad Oak, Wenan Chen, Alise Blake, Lynn H. Harrison, Martha O’Brien, Christopher Previti, Gnanaprakash Balasubramanian, Kendra K. Maaß, Steffen Hirsch, Judith Penkert et al. · 2025 · medRxiv
23. Additional file 2 of Adult-onset CNS myelin sulfatide deficiency is sufficient to cause Alzheimer’s disease-like neuroinflammation and cognitive impairment
    Qiu, Shulan, Palavicini, Juan Pablo, Wang, Jianing, Nancy S. Gonzalez, Sijia He, Elizabeth Dustin, Zou, Cheng, Ding, Lin, Anindita Bhattacharjee, Candice E. Van Skike et al. · 2021 · Figshare
24. Additional file 10 of Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer
    Zhao, Jiajing, Jiazheng Quan, Chen, Weilin, Xie, Xiaojun · 2024 · Figshare
25. Additional file 1 of Adult-onset CNS myelin sulfatide deficiency is sufficient to cause Alzheimer’s disease-like neuroinflammation and cognitive impairment
    Qiu, Shulan, Palavicini, Juan Pablo, Wang, Jianing, Nancy S. Gonzalez, He, Sijia, Elizabeth Dustin, Zou, Cheng, Ding, Lin, Anindita Bhattacharjee, Candice E. Van Skike et al. · 2021 · Figshare
26. Additional file 5 of Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer
    Zhao, Jiajing, Jiazheng Quan, Chen, Weilin, Xie, Xiaojun · 2024 · Figshare
27. Additional file 9 of Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer
    Zhao, Jiajing, Jiazheng Quan, Chen, Weilin, Xie, Xiaojun · 2024 · Figshare
28. Additional file 6 of Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer
    Zhao, Jiajing, Jiazheng Quan, Chen, Weilin, Xie, Xiaojun · 2024 · Figshare
29. Additional file 1 of Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer
    Zhao, Jiajing, Jiazheng Quan, Chen, Weilin, Xie, Xiaojun · 2024 · Figshare
30. Additional file 1 of Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
    Sara Silvaieh, Theresa König, Raphael Wurm, Tandis Parvizi, Evelyn Berger–Sieczkowski, Stella Goeschl, Christoph Hotzy, Wagner, Matias, Riccardo Berutti, Esther M. Sammler et al. · 2023 · Figshare
31. Additional file 4 of Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer
    Zhao, Jiajing, Jiazheng Quan, Chen, Weilin, Xie, Xiaojun · 2024 · Figshare
32. Additional file 2 of Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer
    Zhao, Jiajing, Jiazheng Quan, Chen, Weilin, Xie, Xiaojun · 2024 · Figshare
33. Additional file 8 of Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer
    Zhao, Jiajing, Jiazheng Quan, Chen, Weilin, Xie, Xiaojun · 2024 · Figshare
34. Additional file 7 of Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer
    Zhao, Jiajing, Jiazheng Quan, Chen, Weilin, Xie, Xiaojun · 2024 · Figshare
35. Additional file 3 of Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer
    Zhao, Jiajing, Jiazheng Quan, Chen, Weilin, Xie, Xiaojun · 2024 · Figshare
36. Additional file 1 of Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
    Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, Anne Boland, Jean‐François Deleuze, Robert Olaso, Flora Alarcon, Dominique Campion et al. · 2022 · Figshare
37. Etude des mécanismes physiοpathοlοgiques de la maladie d'Alzheimer : appοrt de l'étude des variants du gène SΟRL1
    Romain Castelot · 2024 · theses.fr (ABES)
38. Herpes simplex virus type 1 DNA is less prevalent in persons with Alzheimer’s disease and genetic factors modify the effect
    Marlene Tejeda, John J. Farrell, Congcong Zhu, Lee Mark Wetzler, Kathryn L. Lunetta, William S. Bush, Eden R. Martin, L Wang, Gerard D. Schellenberg, Margaret Ann Pericak‐Vance et al. · 2026 · medRxiv
39. Novel Frameshift Variant in SORL1 Gene Identified in a EOAD Family Causes APP Sorting Dysfunction and Endolysosomal Swelling
    Gege Jiang, Guanfeng Xie, Liqin Huang, Shangqi Sun, Zhihao Wang, Zhentao Zhang, Tingting Xiao, Jing Xiong · 2026 · Molecular Neurobiology
40. SORLA up-regulation suppresses pathological effects in aged tauopathy mouse brain
    Huijie Huang, Christina Huan Shi, Wenqi Yang, Juan Piña-Crespo, Jay Bhatnagar, Julian Curatolo, Rabi Murad, Palak Shah, Alex Campos, Alexandra M. Houser et al. · 2026 · Science Advances
41. Autophagy-lysosomal pathway in neurodegeneration
    Samantha R. McDonough, Aditya K. Rao, Jacqueline M. McAleer, Bergan M. Babrowicz, Manu Sharma · 2026 · Molecular Neurodegeneration Advances
42. Astrocyte‐enriched and cilia‐related genetic signatures in dementia: A whole‐exome sequencing study
    Miaohan Deng, Yucan Chen, Lu Zhao, Weichen Song, Qi Qiu, Lin Sun, Xiang Lin, Weidi Wang, Guan Ning Lin, Xia Li · 2026 · General Psychiatry