Humphrey, Jack

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

Annotation-free quantification of RNA splicing using LeafCutter

Li, Y. I., Knowles, D. A., Humphrey, J., Barbeira, A. N., Dickinson, S. P., Im, H. K., & Pritchard, J. K. (2018) · Nature Genetics

RNA Research and SplicingGenomics and Phylogenetic Studies

Cited by 765

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., et al. (2019) · Nature Genetics

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 575

Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility

Raj, T., Li, Y. I., Wong, G., Humphrey, J., Wang, M., Ramdhani, S., Wang, Y.-C., Ng, B., Gupta, I., Haroutunian, V., et al. (2018) · Nature Genetics

RNA Research and SplicingAlzheimer's disease research and treatments

Cited by 410

Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies

Lopes, K. D. P., Snijders, G. J. L., Humphrey, J., Allan, A., Sneeboer, M. A. M., Navarro, E., Schilder, B. M., Vialle, R. A., Parks, M., Missall, R., et al. (2022) · Nature Genetics

Neuroinflammation and Neurodegeneration MechanismsGenetic Associations and Epidemiology

Cited by 273

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

Prudencio, M., Humphrey, J., Pickles, S., Brown, A.-L., Hill, S. E., Kachergus, J. M., Shi, J., Heckman, M. G., Spiegel, M. R., Cook, C., et al. (2020) · Journal of Clinical Investigation

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 231

Genetics of the human microglia regulome refines Alzheimer’s disease risk loci

Kosoy, R., Fullard, J. F., Zeng, B., Bendl, J., Dong, P., Rahman, S., Kleopoulos, S. P., Shao, Z., Girdhar, K., Humphrey, J., et al. (2022) · Nature Genetics

Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatments

Cited by 168

Prioritizing Parkinson’s disease genes using population-scale transcriptomic data

Li, Y. I., Wong, G., Humphrey, J., & Raj, T. (2019) · Nature Communications

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 143

Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

Humphrey, J., Venkatesh, S., Hasan, R., Herb, J. T., de Paiva Lopes, K., Küçükali, F., Byrska-Bishop, M., Evani, U. S., Narzisi, G., Fagegaltier, D., et al. (2023) · Nature Neuroscience

Amyotrophic Lateral Sclerosis ResearchSingle-cell and spatial transcriptomics

Cited by 138

White matter abnormalities and cognition in aging and Alzheimer disease

Peter, C., Sathe, A., Shashikumar, N., Pechman, K. R., Workmeister, A. W., Jackson, T. B., Huo, Y., Mukherjee, S., Mez, J., Dumitrescu, L. C., et al. (2025) · JAMA Neurology

Dementia and Cognitive Impairment ResearchAdvanced Neuroimaging Techniques and Applications

Cited by 59

Dysregulation of mitochondrial and proteolysosomal genes in Parkinson’s disease myeloid cells

Navarro, E., Udine, E., Lopes, K. D. P., Parks, M., Riboldi, G., Schilder, B. M., Humphrey, J., Snijders, G. J. L., Vialle, R. A., Zhuang, M., et al. (2021) · Nature Aging

Parkinson's Disease Mechanisms and TreatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 57

A novel human pain insensitivity disorder caused by a point mutation in ZFHX2

Habib, A. M., Matsuyama, A., Okorokov, A. L., Santana-Varela, S., Bras, J. T., Aloisi, A. M., Emery, E. C., Bogdanov, Y. D., Follenfant, M., Gossage, S. J., et al. (2018) · Brain

Pain Mechanisms and TreatmentsHereditary Neurological Disorders

Cited by 50

Artificial intelligence for dementia genetics and omics

Bettencourt, C., Skene, N., Bandres‐Ciga, S., Anderson, E., Winchester, L. M., Foote, I. F., Schwartzentruber, J., Botia, J. A., Nalls, M., Singleton, A., et al. (2023) · Alzheimer's & Dementia

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 30

SingleBrain: A Meta-Analysis of Single-Nucleus eQTLs Linking Genetic Risk to Brain Disorders

Jang, B., Kailash, B., Tokolyi, A., Cuddleston, W. H., Ravi, A., Jung, S.-H., Naito, T., Kim, B., Kim, M. S., Cho, M., et al. (2025) · medRxiv

Genetic Associations and EpidemiologySingle-cell and spatial transcriptomics

Cited by 11