Missense variant in TREML2 protects against Alzheimer's disease
Benitez, BA, SC Jin, R Guerreiro, J Lord, D Harold, R Sims, JC Lambert, et al. 2014. “Missense Variant in TREML2 Protects Against Alzheimer’s Disease”. Neurobiol Aging.
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Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.
Li, Yedda, Yue Xu, Bruno A Benitez, Murtaza S Nagree, Joshua T Dearborn, Xuntian Jiang, Miguel A Guzman, et al. 2019. “Genetic Ablation of Acid Ceramidase in Krabbe Disease Confirms the Psychosine Hypothesis and Identifies a New Therapeutic Target.”. Proceedings of the National Academy of Sciences of the United States of America 116 (40): 20097-103.
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease
Ibanez, L, U Dube, AA Davis, MV Fernandez, J Budde, B Cooper, M Diez-Fairen, et al. 2018. “Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease”. Front Neurosci.
Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease.
Ibanez, Laura, Jorge A Bahena, Chengran Yang, Umber Dube, Fabiana H G Farias, John P Budde, Kristy Bergmann, et al. 2020. “Functional Genomic Analyses Uncover APOE-Mediated Regulation of brain and Cerebrospinal Fluid Beta-Amyloid Levels in Parkinson Disease.”. Acta Neuropathologica Communications 8 (1): 196.
Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.
Benitez, Bruno A, Nigel J Cairns, Robert E Schmidt, John C Morris, Joanne B Norton, Carlos Cruchaga, and Mark S Sands. 2015. “Clinically Early-Stage CSPα Mutation Carrier Exhibits Remarkable Terminal Stage Neuronal Pathology With Minimal Evidence of Synaptic Loss.”. Acta Neuropathologica Communications 3: 73.
Parkinson disease is not associated with C9ORF72 repeat expansions.
Harms, Matthew B, Drexel Neumann, Bruno A Benitez, Breanna Cooper, David Carrell, Brad A Racette, Joel S Perlmutter, Alison Goate, and Carlos Cruchaga. 2013. “Parkinson Disease Is Not Associated With C9ORF72 Repeat Expansions.”. Neurobiology of Aging 34 (5): 1519.e1-2.
Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.
Qin, Wei, Aihong Zhou, Xiumei Zuo, Longfei Jia, Fangyu Li, Qi Wang, Ying Li, et al. 2021. “Exome Sequencing Revealed PDE11A As a Novel Candidate Gene for Early-Onset Alzheimer’s Disease.”. Human Molecular Genetics 30 (9): 811-22.
Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers.
Brase, Logan, Shih-Feng You, Ricardo D’Oliveira Albanus, Jorge L Del-Aguila, Yaoyi Dai, Brenna C Novotny, Carolina Soriano-Tarraga, et al. 2023. “Single-Nucleus RNA-Sequencing of Autosomal Dominant Alzheimer Disease and Risk Variant Carriers.”. Nature Communications 14 (1): 2314.
Using global team science to identify genetic parkinson's disease worldwide.
Vollstedt, Eva-Juliane, Meike Kasten, Christine Klein, and MJFF Global Genetic Parkinson’s Disease Study Group. 2019. “Using Global Team Science to Identify Genetic Parkinson’s Disease Worldwide.”. Annals of Neurology 86 (2): 153-57.
Brain high-throughput multi-omics data reveal molecular heterogeneity in Alzheimer’s disease
Benitez, Bruno A., Abdallah M. Eteleeb, Oscar Harari, Brenna C. Novotny, Carolina Soriano Tarraga, Christopher Sohn, Eliza Dhungel, et al. 2024. “Brain High-Throughput Multi-Omics Data Reveal Molecular Heterogeneity in Alzheimer’s Disease”. PLOS Biology.