Buxbaum, Joseph D.

A framework for the interpretation of de novo mutation in human disease

Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics

Genomics and Rare DiseasesAutism Spectrum Disorder Research

Cited by 979

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 969

White Matter Changes in Schizophrenia: Evidence for Myelin-Related Dysfunction

Davis, K. L., Stewart, D. G., Friedman, J. I., Buchsbaum, M., Harvey, P. D., Hof, P. R., Buxbaum, J., & Haroutunian, V. (2003) · Archives of General Psychiatry

Schizophrenia research and treatmentMental Health and Psychiatry

Cited by 793

Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort

Bai, D., Yip, B. H. K., Windham, G. C., Sourander, A., Francis, R., Yoffe, R., Glasson, E., Mahjani, B., Suominen, A., Leonard, H., et al. (2019) · JAMA Psychiatry

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 683

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 640

A genome-wide scan for common alleles affecting risk for autism

Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 593

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

Bozdagi, O., Sakurai, T., Papapetrou, D., Wang, X., Dickstein, D. L., Takahashi, N., Kajiwara, Y., Yang, M., Katz, A. M., Scattoni, M. L., et al. (2010) · Molecular Autism

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 584

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

Gusev, A., Lee, S. H., Trynka, G., Finucane, H., Vilhjálmsson, B. J., Xu, H., Zang, C., Ripke, S., Bulik-Sullivan, B., Stahl, E., et al. (2014) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 544

Autism spectrum disorder: neuropathology and animal models

Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 536

The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer’s disease

Wang, M., Beckmann, N. D., Roussos, P., Wang, E., Zhou, X., Wang, Q., Ming, C., Neff, R., Ma, W., Fullard, J. F., et al. (2018) · Scientific Data

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 502

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes

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. (2019) · Nature Communications

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 473

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

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

Ionita-Laza, I., Lee, S., Makarov, V., Buxbaum, J. D., & Lin, X. (2013) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 433

Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ϵ4, and the Risk of Late-Onset Alzheimer Disease in African Americans

Reitz, C., Jun, G., Naj, A., Rajbhandary, R., Vardarajan, B. N., Wang, L.-S., Valladares, O., Lin, C.-F., Larson, E. B., Graff-Radford, N. R., et al. (2013) · JAMA

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 431

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

Bucan, M., Abrahams, B. S., Wang, K., Glessner, J. T., Herman, E. I., Sonnenblick, L. I., Alvarez Retuerto, A. I., Imielinski, M., Hadley, D., Bradfield, J. P., et al. (2009) · PLoS Genetics

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 424

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Elia, J., Glessner, J. T., Wang, K., Takahashi, N., Shtir, C. J., Hadley, D., Sleiman, P. M. A., Zhang, H., Kim, C. E., Robison, R., et al. (2012) · Nature Genetics

Attention Deficit Hyperactivity DisorderGenomic variations and chromosomal abnormalities

Cited by 406

Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia

Corfas, G., Roy, K., & Buxbaum, J. D. (2004) · Nature Neuroscience

Schizophrenia research and treatmentHER2/EGFR in Cancer Research

Cited by 388

Individual common variants exert weak effects on the risk for autism spectrum disorders

Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, S., Bolton, P. F., Bourgeron, T., et al. (2012) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 375

A Replication of the Autism Diagnostic Observation Schedule (ADOS) Revised Algorithms

GOTHAM, K., RISI, S., DAWSON, G., TAGER-FLUSBERG, H., JOSEPH, R., CARTER, A., HEPBURN, S., McMAHON, W., RODIER, P., HYMAN, S. L., et al. (2008) · Journal of the American Academy of Child & Adolescent Psychiatry

Autism Spectrum Disorder ResearchChild Nutrition and Feeding Issues

Cited by 374

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

Yang, M., Bozdagi, O., Scattoni, M. L., Wöhr, M., Roullet, F. I., Katz, A. M., Abrams, D. N., Kalikhman, D., Simon, H., Woldeyohannes, L., et al. (2012) · The Journal of Neuroscience

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 369

Aβ localization in abnormal endosomes: association with earliest Aβ elevations in AD and Down syndrome

Cataldo, A. M., Petanceska, S., Terio, N. B., Peterhoff, C. M., Durham, R., Mercken, M., Mehta, P. D., Buxbaum, J., Haroutunian, V., & Nixon, R. A. (2004) · Neurobiology of Aging

Alzheimer's disease research and treatmentsCellular transport and secretion

Cited by 363

Epigenetic biomarkers as predictors and correlates of symptom improvement following psychotherapy in combat veterans with PTSD

Yehuda, R., Daskalakis, N. P., Desarnaud, F., Makotkine, I., Lehrner, A. L., Koch, E., Flory, J. D., Buxbaum, J. D., Meaney, M. J., & Bierer, L. M. (2013) · Frontiers in Psychiatry

Posttraumatic Stress Disorder ResearchEpigenetics and DNA Methylation

Cited by 358

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

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Kosmicki, J. A., Samocha, K. E., Howrigan, D. P., Sanders, S. J., Slowikowski, K., Lek, M., Karczewski, K. J., Cutler, D. J., Devlin, B., Roeder, K., et al. (2017) · Nature Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 340