Schellenberg, Gerard D.

The Clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients

Ikeda, M., Sharma, V., Mark Sumi, S., Rogaeva, E. A., Poorkaj, P., Sherrington, R., Nee, L., Tsuda, T., Oda, N., Watanabe, M., et al. (1996) · Annals of Neurology

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TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy

Alquezar, C., Schoch, K. M., Geier, E. G., Ramos, E. M., Scrivo, A., Li, K. H., Argouarch, A. R., Mlynarski, E. E., Dombroski, B., DeTure, M., et al. (2021) · Science Advances

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Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16

Chapman, N. H., Estes, A., Munson, J., Bernier, R., Webb, S. J., Rothstein, J. H., Minshew, N. J., Dawson, G., Schellenberg, G. D., & Wijsman, E. M. (2011) · Human Genetics

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A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer’s Disease Brains

Haddick, P. C. G., Alzheimer’s Disease Genetic Consortium (ADGC), A. D. N. I. (., Larson, J. L., Rathore, N., Bhangale, T. R., Phung, Q. T., Srinivasan, K., Hansen, D. V., Lill, J. R., Pericak-Vance, M. A., et al. (2017) · Journal of Alzheimer's Disease

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Report of the APOE4 National Institute on Aging/Alzheimer Disease Sequencing Project Consortium Working Group: Reducing APOE4 in Carriers is a Therapeutic Goal for Alzheimer’s Disease

Vance, J. M., Farrer, L. A., Huang, Y., Cruchaga, C., Hyman, B. T., Pericak‐Vance, M. A., Goate, A. M., Greicius, M. D., Griswold, A. J., Haines, J. L., et al. (2024) · Annals of Neurology

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Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium

Hohman, T. J., Bush, W. S., Jiang, L., Brown-Gentry, K. D., Torstenson, E. S., Dudek, S. M., Mukherjee, S., Naj, A., Kunkle, B. W., Ritchie, M. D., et al. (2016) · Neurobiology of Aging

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An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

Chung, R.-H., Ma, D., Wang, K., Hedges, D. J., Jaworski, J. M., Gilbert, J. R., Cuccaro, M. L., Wright, H. H., Abramson, R. K., Konidari, I., et al. (2011) · Molecular Autism

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Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci

Holton, P., Ryten, M., Nalls, M., Trabzuni, D., Weale, M. E., Hernandez, D., Crehan, H., Gibbs, J. R., Mayeux, R., Haines, J. L., et al. (2013) · Annals of Human Genetics

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The Utility of Apolipoprotein E Genotyping in the Diagnosis of Alzheimer Disease in a Community-Based Case Series

Tsuang, D., Larson, E. B., Bowen, J., McCormick, W., Teri, L., Nochlin, D., Leverenz, J. B., Peskind, E. R., Lim, A., Raskind, M. A., et al. (1999) · Archives of Neurology

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Heterogeneous association between engrailed‐2 and autism in the CPEA network

Brune, C. W., Korvatska, E., Allen‐Brady, K., Cook, E. H., Dawson, G., Devlin, B., Estes, A., Hennelly, M., Hyman, S. L., McMahon, W. M., et al. (2008) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

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50,000 years of evolutionary history of India: Impact on health and disease variation

Kerdoncuff, E., Skov, L., Patterson, N., Banerjee, J., Khobragade, P., Chakrabarti, S. S., Chakrawarty, A., Chatterjee, P., Dhar, M., Gupta, M., et al. (2025) · Cell

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Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

Gusareva, E. S., Twizere, J.-C., Sleegers, K., Dourlen, P., Abisambra, J. F., Meier, S., Cloyd, R., Weiss, B., Dermaut, B., Bessonov, K., et al. (2018) · Neurobiology of Aging

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Genome‐wide linkage analyses of non‐Hispanic white families identify novel loci for familial late‐onset Alzheimer's disease

Kunkle, B. W., Jaworski, J., Barral, S., Vardarajan, B., Beecham, G. W., Martin, E. R., Cantwell, L. S., Partch, A., Bird, T. D., Raskind, W. H., et al. (2016) · Alzheimer's & Dementia

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High copy wildtype human 1N4R tau expression promotes early pathological tauopathy accompanied by cognitive deficits without progressive neurofibrillary degeneration

Wheeler, J. M., McMillan, P. J., Hawk, M., Iba, M., Robinson, L., Xu, G. J., Dombroski, B. A., Jeong, D., Dichter, M. A., Juul, H., et al. (2015) · Acta Neuropathologica Communications

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Evidence for three loci modifying age‐at‐onset of Alzheimer's disease in early‐onset PSEN2 families

Marchani, E. E., Bird, T. D., Steinbart, E. J., Rosenthal, E., Yu, C., Schellenberg, G. D., & Wijsman, E. M. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

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A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores

Kang, M., Ang, T. F. A., Devine, S. A., Sherva, R., Mukherjee, S., Trittschuh, E. H., Gibbons, L. E., Scollard, P., Lee, M., Choi, S.-E., et al. (2023) · Molecular Neurodegeneration

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Amyloid-β predominant Alzheimer’s disease neuropathologic change

Kovacs, G. G., Katsumata, Y., Wu, X., Aung, K. Z., Fardo, D. W., Forrest, S. L., Alzheimer's Disease Genetics Consortium, Bowen, J. D., Crane, P. K., Jarvik, G. P., et al. (2025) · Brain

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Consensus meta-analysis of genome-wide association studies for Alzheimer’s disease and related dementias

EADB, Bellenguez, C., Castillo Morales, A., Amin, N., van der Lee, S. J., Muntaner, M., Parveen, K., Küçükali, F., Grenier-Boley, B., Heikkinen, S., et al. (2026) · Nature Genetics

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A Common Haplotype Lowers PU.1 Expression in Myeloid Cells and Delays Onset of Alzheimer's Disease

Huang, K.-L., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., Fairfax, B. P., Czajkowski, J., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory)

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Variant-to-function mapping of late-onset Alzheimer’s disease GWAS signals in human microglial cell models implicates RTFDC1 at the CASS4 locus

Burton, E. A., Argenziano, M., Cook, K., Ridler, M., Lu, S., Su, C., Manduchi, E., Littleton, S. H., Leonard, M. E., Hodge, K. M., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory)

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Genome wide association study meta-analysis of neuropathologic lesions of Alzheimer’s disease and related dementias in a multi-site autopsy cohort

Cholerton, B., Godrich, D., Pasteris, J., Rivero, J., Martin, E. R., Kunkle, B. W., Naj, A. C., Hamilton-Nelson, K. L., Wang, H., Lee, W.-P., et al. (2026) · PLOS Genetics

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