Buxbaum, Joseph D.
Icahn School of Medicine at Mount Sinai
117 papers on CoChatORCID 0000-0001-8898-8313
Most cited papers
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Familial symptom domains in monozygotic siblings with autism
Kolevzon, A., Smith, C. J., Schmeidler, J., Buxbaum, J. D., & Silverman, J. M. (2004) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders
Cited by 56
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Autism‐related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism
Silverman, J. M., Buxbaum, J. D., Ramoz, N., Schmeidler, J., Reichenberg, A., Hollander, E., Angelo, G., Smith, C. J., & Kryzak, L. A. (2008) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders
Cited by 55
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Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism
Noh, H. J., Ponting, C. P., Boulding, H. C., Meader, S., Betancur, C., Buxbaum, J. D., Pinto, D., Marshall, C. R., Lionel, A. C., Scherer, S. W., et al. (2013) · PLoS Genetics
Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders
Cited by 54
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APOE Genotype Results in Differential Effects on the Peripheral Clearance of Amyloid-β42 in APOE Knock-in and Knock-out Mice
Sharman, M. J., Morici, M., Hone, E., Berger, T., Taddei, K., Martins, I. J., Lim, W. L. F., Singh, S., Wenk, M. R., Ghiso, J., et al. (2010) · Journal of Alzheimer's Disease
Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research
Cited by 54
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Characterization of SLITRK1 variation in obsessive-compulsive disorder
Ozomaro, U., Cai, G., Kajiwara, Y., Yoon, S., Makarov, V., Delorme, R., Betancur, C., Ruhrmann, S., Falkai, P., Grabe, H. J., et al. (2013) · PLoS ONE
Obsessive-Compulsive Spectrum DisordersGenetics and Neurodevelopmental Disorders
Cited by 52
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Neuropathology of the Anterior Midcingulate Cortex in Young Children With Autism
Uppal, N., Wicinski, B., Buxbaum, J. D., Heinsen, H., Schmitz, C., & Hof, P. R. (2014) · Journal of Neuropathology & Experimental Neurology
Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders
Cited by 52
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Heritable variation, with little or no maternal effect, accounts for recurrence risk to autism spectrum disorder in Sweden
Yip, B. H. K., Bai, D., Mahjani, B., Klei, L., Pawitan, Y., Hultman, C. M., Grice, D. E., Roeder, K., Buxbaum, J. D., Devlin, B., et al. (2018) · Biological Psychiatry
Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders
Cited by 46
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Allelic expression of APOE in human brain: Effects of epsilon status and promoter haplotypes
Bray, N. J., Jehu, L., Moskvina, V., Buxbaum, J. D., Dracheva, S., Haroutunian, V., Williams, J., Buckland, P. R., Owen, M. J., & O'Donovan, M. C. (2004) · Human Molecular Genetics
Alzheimer's disease research and treatmentsGenetic Associations and Epidemiology
Cited by 45
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Regulation of cell distancing in peri-plaque glial nets by Plexin-B1 affects glial activation and amyloid compaction in Alzheimer’s disease
Huang, Y., Wang, M., Ni, H., Zhang, J., Li, A., Hu, B., Junqueira Alves, C., Wahane, S., Rios de Anda, M., Ho, L., et al. (2024) · Nature Neuroscience
Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms
Cited by 42
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Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats
Jacot-Descombes, S., Keshav, N. U., Dickstein, D. L., Wicinski, B., Janssen, W. G. M., Hiester, L. L., Sarfo, E. K., Warda, T., Fam, M. M., Harony-Nicolas, H., et al. (2020) · Molecular Autism
Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research
Cited by 41
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A macromolecular complex involving the amyloid precursor protein (APP) and the cytosolic adapter FE65 is a negative regulator of axon branching
Ikin, A. F., Sabo, S. L., Lanier, L. M., & Buxbaum, J. D. (2007) · Molecular and Cellular Neuroscience
Axon Guidance and Neuronal SignalingAlzheimer's disease research and treatments
Cited by 38
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Maternal Effects as Causes of Risk for Obsessive-Compulsive Disorder
Mahjani, B., Klei, L., Hultman, C. M., Larsson, H., Devlin, B., Buxbaum, J. D., Sandin, S., & Grice, D. E. (2020) · Biological Psychiatry
Obsessive-Compulsive Spectrum DisordersGenetic Associations and Epidemiology
Cited by 36
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Profiling Brain and Plasma Lipids in Human APOE ε2, ε3, and ε4 Knock-in Mice Using Electrospray Ionization Mass Spectrometry
Sharman, M. J., Shui, G., Fernandis, A. Z., Lim, W. L. F., Berger, T., Hone, E., Taddei, K., Martins, I. J., Ghiso, J., Buxbaum, J. D., et al. (2010) · Journal of Alzheimer's Disease
Alzheimer's disease research and treatmentsMetabolomics and Mass Spectrometry Studies
Cited by 35
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Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes
Breen, M. S., Wingo, A. P., Koen, N., Donald, K. A., Nicol, M., Zar, H. J., Ressler, K. J., Buxbaum, J. D., & Stein, D. J. (2018) · Brain, Behavior, and Immunity
Maternal Mental Health During Pregnancy and PostpartumStress Responses and Cortisol
Cited by 35
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Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats
Golden, C. E. M., Breen, M. S., Koro, L., Sonar, S., Niblo, K., Browne, A., Burlant, N., Di Marino, D., De Rubeis, S., Baxter, M. G., et al. (2019) · Cerebral Cortex
Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research
Cited by 29
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Elevated plasma cholesterol does not affect brain Aβ in mice lacking the low‐density lipoprotein receptor
Elder, G. A., Cho, J. Y., English, D. F., Franciosi, S., Schmeidler, J., Sosa, M. A. G., Gasperi, R. D., Fisher, E. A., Mathews, P. M., Haroutunian, V., et al. (2007) · Journal of Neurochemistry
Alzheimer's disease research and treatmentsCholesterol and Lipid Metabolism
Cited by 26
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Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome
Srivastava, S., Scherrer, B., Prohl, A. K., Filip-Dhima, R., Kapur, K., Kolevzon, A., Buxbaum, J. D., Berry-Kravis, E., Soorya, L., Thurm, A., et al. (2019) · Pediatric Neurology
Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research
Cited by 23
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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
Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research
Cited by 19
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DSM-5 and Psychiatric Genetics — Round Hole, Meet Square Peg
Buxbaum, J. D. (2015) · Biological Psychiatry
Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology
Cited by 9
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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
Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research
Cited by 7
- Verified
Molecular Genetics of Autism
Reichert, J. G., Kilifarski, M., Bespalova, I. N., Ramoz, N., & Buxbaum, J. D. (2003) · Autism Spectrum Disorders
Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders
Cited by 4
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