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Genetics
USA
2026

D-Index & Metrics

Genetics

D-Index
146
Citations
115113
World Ranking
152
National Ranking
80

Medicine

D-Index
150
Citations
121273
World Ranking
1138
National Ranking
656

Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader Award
  • 2025 - Research.com Genetics in United States Leader Award
  • 2024 - Research.com Genetics in United States Leader Award

Overview

Joseph D. Buxbaum is affiliated with the Icahn School of Medicine at Mount Sinai in the United States. Their research focuses primarily on the fields of biochemistry, genetics, and molecular biology, with a notable emphasis on genetics and molecular biology as distinct subfields. The scientist's work spans cognitive neuroscience, clinical psychology, and psychiatry and mental health, reflecting a broad interdisciplinary approach.

The main topics covered in their research include autism spectrum disorder, genetics and neurodevelopmental disorders, genomic variations and chromosomal abnormalities, genetic associations and epidemiology, genomics and rare diseases, congenital heart defects, and obsessive-compulsive spectrum disorders. These subjects demonstrate a specific interest in genetic and neurodevelopmental conditions as well as behavioral disorders.

Joseph D. Buxbaum has contributed to a number of significant publications. Recent papers include:

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020, Cell)
  • Mapping the Human Genetic Architecture of COVID-19 (2021, Nature)
  • Exceptionally Low Likelihood of Alzheimer's Dementia in APOE2 Homozygotes from a 5,000-Person Neuropathological Study (2020, Nature Communications)
  • Large eQTL Meta-Analysis Reveals Differing Patterns Between Cerebral Cortical and Cerebellar Brain Regions (2020, Scientific Data)
  • Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel (2020, JAMA Neurology)

Their frequent coauthors include Alexander Kolevzon, Paige M. Siper, Dorothy E. Grice, Tess Levy, and Behrang Mahjani, each collaborating extensively on various studies.

Joseph D. Buxbaum frequently publishes in venues such as bioRxiv (Cold Spring Harbor Laboratory), Molecular Autism, European Neuropsychopharmacology, Biological Psychiatry, and The American Journal of Human Genetics. These journals reflect their concentration on molecular neuroscience, psychiatric genetics, and neurodevelopmental disorders.

Best Publications

  • Biological insights from 108 schizophrenia-associated genetic loci

    Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Aiden Corvin;James T. R. Walters

  • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

    Jean-Charles Lambert;Jean-Charles Lambert;Jean-Charles Lambert;Carla A Ibrahim-Verbaas;Denise Harold;Adam C Naj

  • Synaptic, transcriptional and chromatin genes disrupted in autism

    Silvia De Rubeis;Xin-Xin He;Arthur P Goldberg;Christopher S. Poultney

  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

    S. Hong Lee;Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Stephen V. Faraone

  • Functional impact of global rare copy number variation in autism spectrum disorders

    Dalila Pinto;Alistair T. Pagnamenta;Lambertus Klei;Richard Anney

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

  • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

    Adam C. Naj;Gyungah Jun;Gary W. Beecham;Li-San Wang

  • Patterns and rates of exonic de novo mutations in autism spectrum disorders

    Benjamin M. Neale;Yan Kou;Li Liu;Avi Ma'Ayan

  • Correlation Between Elevated Levels of Amyloid β-Peptide in the Brain and Cognitive Decline

    Jan Näslund;Vahram Haroutunian;Richard Mohs;Kenneth L. Davis

  • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

    Joseph T. Glessner;Kai Wang;Guiqing Cai;Olena Korvatska

  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements

    Peter Szatmari;Andrew D. Paterson;Lonnie Zwaigenbaum;Wendy Roberts

  • Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

    Stephan J. Sanders;Xin He;A. Jeremy Willsey;A. Gulhan Ercan-Sencicek

  • Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

    Bjarni J. Vilhjálmsson;Jian Yang;Hilary K. Finucane;Alexander Gusev

  • Genome-wide expression analysis reveals dysregulation of myelination-related genes in chronic schizophrenia.

    Yaron Hakak;John R. Walker;Cheng Li;Wing Hung Wong

  • Most genetic risk for autism resides with common variation

    Trent Gaugler;Lambertus Klei;Stephan J. Sanders;Corneliu A. Bodea

  • Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

    Valentina Escott-Price;Céline Bellenguez;Li-San Wang;Seung-Hoan Choi

  • Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

    Phil H. Lee;Verneri Anttila;Hyejung Won;Yen-Chen A. Feng

  • Intraneuronal Aβ42 Accumulation in Human Brain

    Gunnar K. Gouras;Gunnar K. Gouras;Julia Tsai;Jan Naslund;Bruno Vincent

  • Evidence That Tumor Necrosis Factor α Converting Enzyme Is Involved in Regulated α-Secretase Cleavage of the Alzheimer Amyloid Protein Precursor

    Joseph D. Buxbaum;Kang-Nian Liu;Yuxia Luo;Jennifer L. Slack

  • Common genetic variants on 5p14.1 associate with autism spectrum disorders

    Kai Wang;Haitao Zhang;Deqiong Ma;Maja Bucan

Frequent Co-Authors

Vahram Haroutunian
Vahram Haroutunian Icahn School of Medicine at Mount Sinai
Bernie Devlin
Bernie Devlin University of Pittsburgh
Margaret A. Pericak-Vance
Margaret A. Pericak-Vance University of Miami
Mark J. Daly
Mark J. Daly Massachusetts General Hospital
Alexander Kolevzon
Alexander Kolevzon Icahn School of Medicine at Mount Sinai
Catalina Betancur
Catalina Betancur Sorbonne University
Benjamin M. Neale
Benjamin M. Neale Harvard University
Gerard D. Schellenberg
Gerard D. Schellenberg University of Pennsylvania
Thomas Werge
Thomas Werge University of Copenhagen
Abraham Reichenberg
Abraham Reichenberg Icahn School of Medicine at Mount Sinai

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