Mash, Deborah C.

The GTEx Consortium atlas of genetic regulatory effects across human tissues

The GTEx Consortium, Aguet, F., Anand, S., Ardlie, K. G., Gabriel, S., Getz, G. A., Graubert, A., Hadley, K., Handsaker, R. E., Huang, K. H., et al. (2020) · Science

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 5,547

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 5,062

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), Kunkle, B. W., The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, P. A. E. R. F. A. D. C. (., Grenier-Boley, B., Sims, R., Bis, J. C., Damotte, V., Naj, A. C., et al. (2019) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,946

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,498

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

Naj, A. C., Jun, G., Beecham, G. W., Wang, L.-S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., et al. (2011) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 1,901

Dynamics of hippocampal neurogenesis in adult humans

Spalding, K. L., Bergmann, O., Alkass, K., Bernard, S., Salehpour, M., Huttner, H. B., Boström, E., Westerlund, I., Vial, C., Buchholz, B. A., et al. (2013) · Cell

Neurogenesis and neuroplasticity mechanismsMemory and Neural Mechanisms

Cited by 1,841

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

ARUK Consortium, Sims, R., GERAD/PERADES, C., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., et al. (2017) · Nature Genetics

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 1,012

Determinants of telomere length across human tissues

Demanelis, K., Jasmine, F., Chen, L. S., Chernoff, M., Tong, L., Delgado, D., Zhang, C., Shinkle, J., Sabarinathan, M., Lin, H., et al. (2020) · Science

Telomeres, Telomerase, and SenescenceGenetics, Aging, and Longevity in Model Organisms

Cited by 515

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

Reiman, E. M., Arboleda-Velasquez, J. F., Quiroz, Y. T., Huentelman, M. J., Beach, T. G., Caselli, R. J., Chen, Y., Su, Y., Myers, A. J., Hardy, J., et al. (2020) · Nature Communications

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 473

A Quantitative Proteome Map of the Human Body

Jiang, L., Wang, M., Lin, S., Jian, R., Li, X., Chan, J., Dong, G., Fang, H., Robinson, A. E., Aguet, F., et al. (2020) · Cell

Advanced Proteomics Techniques and ApplicationsBioinformatics and Genomic Networks

Cited by 458

Genetic variation in human NPY expression affects stress response and emotion

Zhou, Z., Zhu, G., Hariri, A. R., Enoch, M.-A., Scott, D., Sinha, R., Virkkunen, M., Mash, D. C., Lipsky, R. H., Hu, X.-Z., et al. (2008) · Nature

Neuropeptides and Animal PhysiologyNeurotransmitter Receptor Influence on Behavior

Cited by 455

Locus coeruleus neurofibrillary degeneration in aging, mild cognitive impairment and early Alzheimer's disease

Grudzien, A., Shaw, P., Weintraub, S., Bigio, E., Mash, D. C., & Mesulam, M. M. (2007) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 396

Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder

Boeve, B. F., Silber, M. H., Ferman, T. J., Lin, S. C., Benarroch, E. E., Schmeichel, A. M., Ahlskog, J. E., Caselli, R. J., Jacobson, S., Sabbagh, M., et al. (2013) · Sleep Medicine

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 393

Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias

Beecham, G. W., Hamilton, K., Naj, A. C., Martin, E. R., Huentelman, M., Myers, A. J., Corneveaux, J. J., Hardy, J., Vonsattel, J.-P., Younkin, S. G., et al. (2014) · PLoS Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 343

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

Neuropathological and Neuropsychological Changes in “Normal” Aging: Evidence for Preclinical Alzheimer Disease in Cognitively Normal Individuals

HULETTE, C. M., WELSH-BOHMER, K. A., MURRAY, M. G., SAUNDERS, A. M., MASH, D. C., & MCINTYRE, L. M. (1998) · Journal of Neuropathology and Experimental Neurology

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 311

A novel Alzheimer disease locus located near the gene encoding tau protein

Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J.-C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L.-S., Bis, J. C., Bellenguez, C., et al. (2016) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 297

The Genotype-Tissue Expression (GTEx) project

Lonsdale, J., Thomas, J., Salvatore, M., Phillips, R., Lo, E., Shad, S., Hasz, R., Walters, G., Garcia, F., Young, N., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 263

Dietary exposure to an environmental toxin triggers neurofibrillary tangles and amyloid deposits in the brain

Cox, P. A., Davis, D. A., Mash, D. C., Metcalf, J. S., & Banack, S. A. (2016) · Proceedings of the Royal Society B: Biological Sciences

Alzheimer's disease research and treatmentsMarine Toxins and Detection Methods

Cited by 256

Assessment of the genetic variance of late-onset Alzheimer's disease

Ridge, P. G., Hoyt, K. B., Boehme, K., Mukherjee, S., Crane, P. K., Haines, J. L., Mayeux, R., Farrer, L. A., Pericak-Vance, M. A., Schellenberg, G. D., et al. (2016) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 236

Transethnic genome‐wide scan identifies novel Alzheimer's disease loci

Jun, G. R., Chung, J., Mez, J., Barber, R., Beecham, G. W., Bennett, D. A., Buxbaum, J. D., Byrd, G. S., Carrasquillo, M. M., Crane, P. K., et al. (2017) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 197

Robust single-cell DNA methylome profiling with snmC-seq2

Luo, C., Rivkin, A., Zhou, J., Sandoval, J. P., Kurihara, L., Lucero, J., Castanon, R., Nery, J. R., Pinto-Duarte, A., Bui, B., et al. (2018) · Nature Communications

Epigenetics and DNA MethylationSingle-cell and spatial transcriptomics

Cited by 189

Differential cholinergic innervation within functional subdivisions of the human cerebral cortex: A choline acetyltransferase study

Mesulam, M. ‐., Hersh, L. B., Mash, D. C., & Geula, C. (1992) · Journal of Comparative Neurology

Neuroscience and Neuropharmacology ResearchMemory and Neural Mechanisms

Cited by 188

Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease: A Genome-Wide Association Study

Naj, A. C., Jun, G., Reitz, C., Kunkle, B. W., Perry, W., Park, Y. S., Beecham, G. W., Rajbhandary, R. A., Hamilton-Nelson, K. L., Wang, L.-S., et al. (2014) · JAMA Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 185