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Author Details

Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
1986
405
105
PMIDPaper TitleJournal TitlePublished Year
35616818Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism.J Autism Dev Disord2024
35616818Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism.J Autism Dev Disord2024
38016473An evolutionary perspective on complex neuropsychiatric disease.Neuron2024
38016473An evolutionary perspective on complex neuropsychiatric disease.Neuron2024
35979925CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.Brain2023
35979925CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.Brain2023
36434914DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.Pediatr Neurol2023
37092864Maternal rheumatoid arthritis and risk of autism in the offspring.Psychol Med2023
36973511A consensus protocol for functional connectivity analysis in the rat brain.Nat Neurosci2023
36841830Comorbidities in autism spectrum disorder and their etiologies.Transl Psychiatry2023
37403762Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.Genet Med2023
36645097Somatic comorbidities of mental disorders in pregnancy.Eur Psychiatry2023
37461624Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies <i>LRRC4C, LHX5-AS1</i> and nominates ancestry-specific loci <i>PTPRK</i> , <i>GRB14</i> , and <i>KIAA0825</i> as novel risk loci for Alzheimer's disease: the Alzheimer's Disease Genetics Consortium.medRxiv2023
37454340Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.Hum Genet2023
37392087Updated consensus guidelines on the management of Phelan-McDermid syndrome.Am J Med Genet A2023
37196654The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Am J Hum Genet2023
36879111Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.Eur J Hum Genet2023
37253603Postsynaptic Protein Shank3a Deficiency Synergizes with Alzheimer's Disease Neuropathology to Impair Cognitive Performance in the 3xTg-AD Murine Model.J Neurosci2023
37100590Direct additive genetics and maternal effect contribute to the risk of Tourette disorder.J Neurol Neurosurg Psychiatry2023
37392087Updated consensus guidelines on the management of Phelan-McDermid syndrome.Am J Med Genet A2023
37454340Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.Hum Genet2023
37253603Postsynaptic Protein Shank3a Deficiency Synergizes with Alzheimer's Disease Neuropathology to Impair Cognitive Performance in the 3xTg-AD Murine Model.J Neurosci2023
36973511A consensus protocol for functional connectivity analysis in the rat brain.Nat Neurosci2023
37403762Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.Genet Med2023
37100590Direct additive genetics and maternal effect contribute to the risk of Tourette disorder.J Neurol Neurosurg Psychiatry2023
37196654The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Am J Hum Genet2023
37092864Maternal rheumatoid arthritis and risk of autism in the offspring.Psychol Med2023
37461624Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies <i>LRRC4C, LHX5-AS1</i> and nominates ancestry-specific loci <i>PTPRK</i> , <i>GRB14</i> , and <i>KIAA0825</i> as novel risk loci for Alzheimer's disease: the Alzheimer's Disease Genetics Consortium.medRxiv2023
36879111Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.Eur J Hum Genet2023
36645097Somatic comorbidities of mental disorders in pregnancy.Eur Psychiatry2023
36434914DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.Pediatr Neurol2023
36841830Comorbidities in autism spectrum disorder and their etiologies.Transl Psychiatry2023
33323470Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.J Med Genet2022
35396580Mapping genomic loci implicates genes and synaptic biology in schizophrenia.Nature2022
35592263Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.Front Neurosci2022
35395866Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome.Mol Autism2022
35585789Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.Mol Ther2022
36292681Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders.Genes (Basel)2022
36163277Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups.Nat Genet2022
35820848TrackUSF, a novel tool for automated ultrasonic vocalization analysis, reveals modified calls in a rat model of autism.BMC Biol2022
36150388KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design.Am J Hum Genet2022
35811316Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.Transl Psychiatry2022
36276299Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.HGG Adv2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
35862709Lipid A Variants Activate Human TLR4 and the Noncanonical Inflammasome Differently and Require the Core Oligosaccharide for Inflammasome Activation.Infect Immun2022
36323256Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development.Cell Rep2022
36119806An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome.HGG Adv2022
35982160Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nat Genet2022
33635440Systematic review and meta-analysis: relationships between attention-deficit/hyperactivity disorder and urinary symptoms in children.Eur Child Adolesc Psychiatry2022
34099189Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders.Biol Psychiatry2022
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Collaborators

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Co-authored papers 23
Karolinska Institutet
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Vanderbilt Genetics Institute, Vanderbilt University
Co-authored papers 21
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Massachusetts General Hospital
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University of California los angeles
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Indiana University School of Medicine
Co-authored papers 19
Rush University Medical Center
Co-authored papers 18
Boston University Chobanian & Avedisian School of Medicine
Co-authored papers 17
Icahn School of Medicine at Mount Sinai
Co-authored papers 17
University of Washington
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The Hospital for Sick Children
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