Joseph D. Buxbaum

Icahn School of Medicine at Mount Sinai, New York, NY, United States 
Alzheimer's Disease, Autism, Schizophrenia
"Joseph Buxbaum"
Mean distance: 12.96 (cluster 11)
Cross-listing: Alzheimer's Tree

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Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, et al. (2020) Functional analysis of variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. Journal of Medical Genetics
Golden CEM, Yee Y, Wang VX, et al. (2020) Reduced axonal caliber and structural changes in a rat model of Fragile X syndrome with a deletion of a K-Homology domain of Fmr1. Translational Psychiatry. 10: 280
Breen MS, Garg P, Tang L, et al. (2020) Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. American Journal of Human Genetics
Lim ET, Uddin M, De Rubeis S, et al. (2020) Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nature Neuroscience
Betancur C, Buxbaum JD. (2020) Gene constraint and genotype-phenotype correlations in neurodevelopmental disorders. Current Opinion in Genetics & Development. 65: 69-75
Breen MS, Browne A, Hoffman GE, et al. (2020) Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism. Molecular Autism. 11: 53
Huckins LM, Chatzinakos C, Breen MS, et al. (2020) Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts. Cell Reports. 31: 107716
Gergoudis K, Weinberg A, Templin J, et al. (2020) Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Research : Official Journal of the International Society For Autism Research
Schaaf CP, Betancur C, Yuen RKC, et al. (2020) A framework for an evidence-based gene list relevant to autism spectrum disorder. Nature Reviews. Genetics
Werling DM, Pochareddy S, Choi J, et al. (2020) Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Reports. 31: 107489
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