Joseph D Buxbaum

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Joseph D



Publications in SciGraph latest 50 shown

  • 2018-12 Temporal proteomic profiling of postnatal human cortical development in TRANSLATIONAL PSYCHIATRY
  • 2018-12 Did Hans Asperger actively assist the Nazi euthanasia program? in MOLECULAR AUTISM
  • 2018-12 Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis in TRANSLATIONAL PSYCHIATRY
  • 2018-12 GJA1 (connexin43) is a key regulator of Alzheimer’s disease pathogenesis in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2018-12 Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations in MOLECULAR AUTISM
  • 2018-12 Highly conserved molecular pathways, including Wnt signaling, promote functional recovery from spinal cord injury in lampreys in SCIENTIFIC REPORTS
  • 2018-12 Elevated polygenic burden for autism is associated with differential DNA methylation at birth in GENOME MEDICINE
  • 2018-12 Identification of rare de novo epigenetic variations in congenital disorders in NATURE COMMUNICATIONS
  • 2018-09-11 The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer's disease in SCIENTIFIC DATA
  • 2018-05 An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder in NATURE GENETICS
  • 2018-02 PTSD Blood Transcriptome Mega-Analysis: Shared Inflammatory Pathways across Biological Sex and Modes of Trauma in NEUROPSYCHOPHARMACOLOGY
  • 2018-01 cGAS drives noncanonical-inflammasome activation in age-related macular degeneration in NATURE MEDICINE
  • 2017-12 Prospective investigation of FOXP1 syndrome in MOLECULAR AUTISM
  • 2017-12 Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders in GENOME MEDICINE
  • 2017-10 Autism spectrum disorder: neuropathology and animal models in ACTA NEUROPATHOLOGICA
  • 2017-09 Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease in NATURE GENETICS
  • 2017-09 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder in NATURE NEUROSCIENCE
  • 2017-07 Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders in NATURE GENETICS
  • 2017-06 Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2017-05 Examining the Efficacy of a Family Peer Advocate Model for Black and Hispanic Caregivers of Children with Autism Spectrum Disorder in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2017-04 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples in NATURE GENETICS
  • 2017-03-21 Genetic correlation between amyotrophic lateral sclerosis and schizophrenia in NATURE COMMUNICATIONS
  • 2017-01 Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects in NATURE GENETICS
  • 2016-12 Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer’s disease in GENOME MEDICINE
  • 2016-12 Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2016-12 Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2016-11 Gene expression elucidates functional impact of polygenic risk for schizophrenia in NATURE NEUROSCIENCE
  • 2016-02 A spectral approach integrating functional genomic annotations for coding and noncoding variants in NATURE GENETICS
  • 2016-01 Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2016-01 A novel Alzheimer disease locus located near the gene encoding tau protein in MOLECULAR PSYCHIATRY
  • 2015-12 Understanding autism in the light of sex/gender in MOLECULAR AUTISM
  • 2015-12 Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice in MOLECULAR AUTISM
  • 2015-12 Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome in MOLECULAR AUTISM
  • 2015-12 Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID in MOLECULAR AUTISM
  • 2015-06 Recent Advances in the Genetics of Autism Spectrum Disorder in CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
  • 2015-02 The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison in EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
  • 2015-02 Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways in NATURE NEUROSCIENCE
  • 2014-12 Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2014-12 De novo SCN2A splice site mutation in a boy with Autism spectrum disorder in BMC MEDICAL GENETICS
  • 2014-12 Transcriptomic changes in the frontal cortex associated with paternal age in MOLECULAR AUTISM
  • 2014-12 Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism in MOLECULAR AUTISM
  • 2014-12 A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome in MOLECULAR AUTISM
  • 2014-12 The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism in NATURE COMMUNICATIONS
  • 2014-12 The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses in MOLECULAR AUTISM
  • 2014-12 DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics in MOLECULAR AUTISM
  • 2014-11 Synaptic, transcriptional and chromatin genes disrupted in autism in NATURE
  • 2014-09 A framework for the interpretation of de novo mutation in human disease in NATURE GENETICS
  • 2014-08 Most genetic risk for autism resides with common variation in NATURE GENETICS
  • 2014-07 Biological insights from 108 schizophrenia-associated genetic loci in NATURE
  • 2014-03 The Autism Mental Status Exam: Sensitivity and Specificity Using DSM-5 Criteria for Autism Spectrum Disorder in Verbally Fluent Adults in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
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