Buxbaum, Joseph D.

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder

Poultney, C. S., Goldberg, A. P., Drapeau, E., Kou, Y., Harony-Nicolas, H., Kajiwara, Y., De Rubeis, S., Durand, S., Stevens, C., Rehnström, K., et al. (2013) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 169

Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat

Harony-Nicolas, H., Kay, M., Hoffmann, J. D., Klein, M. E., Bozdagi-Gunal, O., Riad, M., Daskalakis, N. P., Sonar, S., Castillo, P. E., Hof, P. R., et al. (2017) · eLife

Genetics and Neurodevelopmental DisordersNeuroendocrine regulation and behavior

Cited by 168

Recessive gene disruptions in autism spectrum disorder

Autism Sequencing Consortium, Doan, R. N., Lim, E. T., De Rubeis, S., Betancur, C., Cutler, D. J., Chiocchetti, A. G., Overman, L. M., Soucy, A., Goetze, S., et al. (2019) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 159

Multiple rare variants in the etiology of autism spectrum disorders

Buxbaum, J. D. (2009) · Dialogues in Clinical Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 158

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

IMGSAC, Maestrini, E., Pagnamenta, A. T., Lamb, J. A., Bacchelli, E., Sykes, N. H., Sousa, I., Toma, C., Barnby, G., Butler, H., et al. (2010) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 143

Genetic markers for PTSD risk and resilience among survivors of the World Trade Center attacks

Sarapas, C., Cai, G., Bierer, L. M., Golier, J. A., Galea, S., Ising, M., Rein, T., Schmeidler, J., Müller-Myhsok, B., Uhr, M., et al. (2011) · Disease Markers

Posttraumatic Stress Disorder ResearchStress Responses and Cortisol

Cited by 143

Regulatory consequences of neuronal ELAV-like protein binding to coding and non-coding RNAs in human brain

Scheckel, C., Drapeau, E., Frias, M. A., Park, C. Y., Fak, J., Zucker-Scharff, I., Kou, Y., Haroutunian, V., Ma'ayan, A., Buxbaum, J. D., et al. (2016) · eLife

RNA Research and SplicingRNA regulation and disease

Cited by 139

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Celestino-Soper, P. B. S., Violante, S., Crawford, E. L., Luo, R., Lionel, A. C., Delaby, E., Cai, G., Sadikovic, B., Lee, K., Lo, C., et al. (2012) · Proceedings of the National Academy of Sciences

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 139

Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans

Logue, M. W., Schu, M., Vardarajan, B. N., Farrell, J., Bennett, D. A., Buxbaum, J. D., Byrd, G. S., Ertekin‐Taner, N., Evans, D., Foroud, T., et al. (2014) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 136

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

Liu, L., Sabo, A., Neale, B. M., Nagaswamy, U., Stevens, C., Lim, E., Bodea, C. A., Muzny, D., Reid, J. G., Banks, E., et al. (2013) · PLoS Genetics

Autism Spectrum Disorder ResearchGenomics and Rare Diseases

Cited by 135

Canonical Inflammasomes Drive IFN-γ to Prime Caspase-11 in Defense against a Cytosol-Invasive Bacterium

Aachoui, Y., Kajiwara, Y., Leaf, I. A., Mao, D., Ting, J. P.-Y., Coers, J., Aderem, A., Buxbaum, J. D., & Miao, E. A. (2015) · Cell Host & Microbe

Inflammasome and immune disordersImmune Response and Inflammation

Cited by 125

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions

Sakurai, T., Dorr, N. P., Takahashi, N., McInnes, L. A., Elder, G. A., & Buxbaum, J. D. (2011) · Autism Research

Williams Syndrome ResearchGenetics and Neurodevelopmental Disorders

Cited by 108

New translational perspectives for blood-based biomarkers of PTSD: From glucocorticoid to immune mediators of stress susceptibility

Daskalakis, N. P., Cohen, H., Nievergelt, C. M., Baker, D. G., Buxbaum, J. D., Russo, S. J., & Yehuda, R. (2016) · Experimental Neurology

Posttraumatic Stress Disorder ResearchStress Responses and Cortisol

Cited by 105

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

Cukier, H. N., Kunkle, B. W., Vardarajan, B. N., Rolati, S., Hamilton-Nelson, K. L., Kohli, M. A., Whitehead, P. L., Dombroski, B. A., Van Booven, D., Lang, R., et al. (2016) · Neurology Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 100

Familial clustering of tic disorders and obsessive-compulsive disorder

Browne, H. A., Hansen, S. N., Buxbaum, J. D., Gair, S. L., Nissen, J. B., Nikolajsen, K. H., Schendel, D. E., Reichenberg, A., Parner, E. T., & Grice, D. E. (2015) · JAMA Psychiatry

Obsessive-Compulsive Spectrum DisordersPsychoanalysis and Psychopathology Research

Cited by 99

Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice

Bozdagi, O., Sakurai, T., Dorr, N., Pilorge, M., Takahashi, N., & Buxbaum, J. D. (2012) · PLoS ONE

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 97

SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects

Lepagnol-Bestel, A.-M., Maussion, G., Boda, B., Cardona, A., Iwayama, Y., Delezoide, A.-L., Moalic, J.-M., Muller, D., Dean, B., Yoshikawa, T., et al. (2008) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 93

Common risk variants identified in autism spectrum disorder

Grove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R., Won, H., Pallesen, J., Agerbo, E., Andreassen, O. A., Anney, R., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory)

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 89

Altered tactile processing in children with autism spectrum disorder

Tavassoli, T., Bellesheim, K., Tommerdahl, M., Holden, J. M., Kolevzon, A., & Buxbaum, J. D. (2016) · Autism Research

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 88

Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene

Buxbaum, J. D., Georgieva, L., Young, J. J., Plescia, C., Kajiwara, Y., Jiang, Y., Moskvina, V, Norton, N., Peirce, T., Williams, H., et al. (2008) · Molecular Psychiatry

Schizophrenia research and treatmentProtein Tyrosine Phosphatases

Cited by 86

Tau protein abnormalities associated with the progression of alzheimer disease type dementia

Haroutunian, V., Davies, P., Vianna, C., Buxbaum, J. D., & Purohit, D. P. (2007) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 86

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation

Jun, G., Asai, H., Zeldich, E., Drapeau, E., Chen, C., Chung, J., Park, J., Kim, S., Haroutunian, V., Foroud, T., et al. (2014) · Annals of Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 67

Cyfip1 Regulates Presynaptic Activity during Development

Hsiao, K., Harony-Nicolas, H., Buxbaum, J. D., Bozdagi-Gunal, O., & Benson, D. L. (2016) · The Journal of Neuroscience

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 64

Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets

Ionita-Laza, I., Makarov, V., & Buxbaum, J. D. (2012) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 57