ArticleCell stem cell2024
Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders.
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Article in Cell stem cell, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34citing papers in PubMed
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34 citing papers in PubMed, 41 citations in OpenAlex.
- Stem cell derived neural organoid approaches for neurological diseases.Neural regeneration research · 2026Article
- Disrupted PQBP1-HNRNPU-LINE-1 axis underlies aberrant neurodevelopment in renpenning syndrome.Molecular psychiatry · 2026Article
- An antioxidant therapy elicits distinct transcriptome responses in 22q11-deleted upper layer cortical projection neurons.Disease models & mechanisms · 2026Article
- Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion.Molecular psychiatry · 2026Article
- Stress-relaxing granular bioprinting materials enable complex and uniform organoid self-organization.Nature materials · 2026Article
- Next-Generation Strategies for Neural Repair and Regeneration: Neural Organoid Transplantation in the CNS.Cell proliferation · 2026Review
- Spatial transcriptomics implicates the thalamus and cortex in autism and schizophrenia.bioRxiv : the preprint server for biology · 2026Article
- Spatiotemporal analysis of autism gene enrichment implicates cortex, thalamus, and hypothalamus.bioRxiv : the preprint server for biology · 2026Article
- Spatially defined axonal guidance in neural organoids with micropatterned microfluidic channels.bioRxiv : the preprint server for biology · 2026Article
- White matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life.Translational psychiatry · 2026Article
- Human neuromodulatory assembloids to study serotonin signaling and disease.bioRxiv : the preprint server for biology · 2026Article
- How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle.Psychiatry and clinical neurosciences · 2026Review
- A causal coding variant regulating alternative splicing ofScience advances · 2026Article
- Recreating the human brain: Are assembloids merely descriptive models?Frontiers in cellular neuroscience · 2026Review
- Distinct cellular and transcriptional mechanisms mediate an antioxidant therapeutic response in 22q11-deleted upper layer cortical projection neurons.bioRxiv : the preprint server for biology · 2025Article
- Disruption of Cell-Type-Specific Molecular Programs of Medium Spiny Neurons in Autism.bioRxiv : the preprint server for biology · 2025Article
- A spatial transcriptomic atlas of autism-associated genes identifies convergence in the developing human thalamus.bioRxiv : the preprint server for biology · 2025Article
- Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.Stem cell reviews and reports · 2025Review
- Impact of intermittent lead exposure on hominid brain evolution.Science advances · 2025Article
- Subcortical volume alteration and correlation with social function under chlorpromazine versus clozapine treatment in schizophrenia.BMC psychiatry · 2025Article
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Authors and funding
27 authors at 7 institutions in 3 countries.
David ShinDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA.
Chang N KimDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA.
Jayden RossDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA.
Kelsey M HennickDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA.
Sih-Rong WuDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA.
Neha ParanjapeDepartment of Laboratory Medicine, University of California, San Francisco, San Francisco, CA 94107, USA.
Rachel LeonardDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA.
Jerrick C WangDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA.
Matthew G KeefeDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA.
Bryan J PavlovicEli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
Kevin C DonohueDepartment of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA.
Clara MoreauSainte Justine Research Center, University of Montréal, 3175 Chemin de la Côte-Sainte-Catherine, Montréal, QC H3T 1C5, Canada; Imaging Genetics Center, Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Marina del Rey, CA, USA.
Emilie M WigdorInstitute of Developmental and Regenerative Medicine, University of Oxford, Headington, Oxford OX3 7TY, UK.
H Hanh LarsonDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA.
Denise E AllenDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA.
Cathryn R CadwellDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Pathology, University of California, San Francisco, San Francisco, CA 94143, USA.
Aparna BhaduriDepartment of Biological Chemistry, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Galina PopovaDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA.
Carrie E BeardenIntegrative Center for Neurogenetics, Semel Institute for Neuroscience and Human Behavior, Departments of Psychiatry and Biobehavioral Sciences and Psychology, University of California, Los Angeles, 760 Westwood Plaza, Los Angeles, CA 90095, USA.
Alex A PollenEli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
Sebastien JacquemontSainte Justine Research Center, University of Montréal, 3175 Chemin de la Côte-Sainte-Catherine, Montréal, QC H3T 1C5, Canada.
Stephan J SandersDepartment of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Institute of Developmental and Regenerative Medicine, University of Oxford, Headington, Oxford OX3 7TY, UK.
David HausslerUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95060, USA; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA; Howard Hughes Medical Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Arun P WiitaDepartment of Laboratory Medicine, University of California, San Francisco, San Francisco, CA 94107, USA; Chan Zuckerberg Biohub, San Francisco, CA 94158.
Nicholas A FrostDepartment of Neurology, University of Utah, Salt Lake City, UT 84108, USA.
Vikaas S SohalDepartment of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA.
Tomasz J NowakowskiDepartment of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94158, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address: tomasz.nowakowski@ucsf.edu.
University of California, San Francisco · USUniversity of California, Los Angeles · USCentre Hospitalier Universitaire Sainte-Justine · CAHoward Hughes Medical Institute · USUniversity of Oxford · GBUniversity of Southern California · USUniversity of Utah · US
Funding
The Psychiatric Cell Map Initiative: Connecting Genomics, Subcellular Networks, and Higher Order PhenotypesU01MH115747 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KAMPMANN, MARTIN, KROGAN, NEVAN J · 2018 to 2022
$19.6MPREDOCTORAL TRAINING IN DEVELOPMENTAL BIOLOGYT32HD007470 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Todd Nystul · 1994 to 2026
$7.7MNeurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2MLarge-Scale Evaluation of the Effect of Rare Genetic Variants on Psychiatric Symptoms and Cognitive AbilityU01MH119690 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI ALMASY, LAURA A., GLAHN, DAVID C · 2019 to 2023
$5.9MAssessing Genomic, Regulatory and Transcriptional Variation at Single Nuclei Resolution in the Brains of Individuals with Autism Spectrum DisorderR01MH125516 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ARNOLD KRIEGSTEIN, Tomasz Nowakowski · 2021 to 2026
$3.8MNeurodevelopmental defects of the thalamocortical pathway as a convergent feature of psychiatric disordersR01MH128364 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Tomasz Nowakowski, JOHN L. R. RUBENSTEIN · 2023 to 2026
$3.0MNeurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9MUnderstanding Rare Genetic Variation and Disease Risk: A Global Neurogenetics InitiativeR01MH129858 · NIMH · SAINTE-JUSTINE UNIVERSITY HOSPITAL CTR · PI CARRIE E BEARDEN, Sebastien Jacquemont · 2023 to 2026
$2.4MDevelopmental Timing During Cortical DevelopmentR01NS123263 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Tomasz Nowakowski · 2022 to 2026
$2.1MMapping Developmental Lineage Relationships in the Cerebral CortexRF1MH121268 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI NOWAKOWSKI, TOMASZ · 2019 to 2019
$2.1M2/2 - Identification and Validation of Expression Quantitative Trait Loci (eQTLs) in discrete cell types across human brain developmentR01MH122681 · NIMH · UNIVERSITY OF OXFORD · PI SANDERS, STEPHAN · 2023 to 2025
$1.3M2/2 - Identification and Validation of Expression Quantitative Trait Loci (eQTLs) in discrete cell types across human brain developmentU01MH122681 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SANDERS, STEPHAN · 2021 to 2022
$1.2MNICHD NIH HHS T32 HD007470NIMH NIH HHS R01 MH085953NIMH NIH HHS R01 MH122681NIMH NIH HHS R01 MH125516NIMH NIH HHS R01 MH128364NIMH NIH HHS R01 MH129858NIMH NIH HHS R21 MH116473NIMH NIH HHS R37 MH085953NIMH NIH HHS RF1 MH121268NIMH NIH HHS U01 MH115747NIMH NIH HHS U01 MH119690NIMH NIH HHS U01 MH122681NINDS NIH HHS R01 NS123263
Abstract
Thalamic dysfunction has been implicated in multiple psychiatric disorders. We sought to study the mechanisms by which abnormalities emerge in the context of the 22q11.2 microdeletion, which confers significant genetic risk for psychiatric disorders. We investigated early stages of human thalamus development using human pluripotent stem cell-derived organoids and show that the 22q11.2 microdeletion underlies widespread transcriptional dysregulation associated with psychiatric disorders in thalamic neurons and glia, including elevated expression of FOXP2. Using an organoid co-culture model, we demonstrate that the 22q11.2 microdeletion mediates an overgrowth of thalamic axons in a FOXP2-dependent manner. Finally, we identify ROBO2 as a candidate molecular mediator of the effects of FOXP2 overexpression on thalamic axon overgrowth. Together, our study suggests that early steps in thalamic development are dysregulated in a model of genetic risk for schizophrenia and contribute to neural phenotypes in 22q11.2 deletion syndrome.
Indexed as
DiGeorge SyndromeSchizophreniaHumansPhenotype22q11 microdeletionDiGeorge syndromeneurodevelopmental disordersorganoidthalamocorticalvelocardiofacial syndrome
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