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Unraveling Human Brain Development and Evolution Using Organoid Models

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Screening Platforms for Genetic Epilepsies—Zebrafish, iPSC-Derived Neurons, and Organoids

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Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders

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Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD

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Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes

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WWOX-Related Neurodevelopmental Disorders: Models and Future Perspectives

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Human-Induced Pluripotent Stem Cell Technology: Toward the Future of Personalized Psychiatry

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Recent Developments in Autism Genetic Research: A Scientometric Review from 2018 to 2022

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An increase in Semaphorin 3A biases the axonal direction and induces an aberrant dendritic arborization in an in vitro model of human neural progenitor differentiation

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Epigenetic regulation during human cortical development: Seq-ing answers from the brain to the organoid

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Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

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Bridging the translational gap: what can synaptopathies tell us about autism?

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Neurovascular crosstalk and cerebrovascular alterations: an underestimated therapeutic target in autism spectrum disorders

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Brain organoids: A new tool for modelling of neurodevelopmental disorders

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Dynamical Electrical Complexity Is Reduced during Neuronal Differentiation in Autism Spectrum Disorder

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Structure, activity and function of the lysine methyltransferase SETD5

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Remembering through the genome: the role of chromatin states in brain functions and diseases

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iPSC toolbox for understanding and repairing disrupted brain circuits in autism

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Epigenetic control and manipulation of neuronal maturation timing

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Lamin B1 overexpression alters chromatin organization and gene expression

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Modelling monogenic autism spectrum disorder using mouse cortical organoids

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Human organoids to model the developing human neocortex in health and disease

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Using human pluripotent stem cell models to study autism in the era of big data

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Neuroligin-3 and neuroligin-4X form nanoscopic clusters and regulate growth cone organization and size

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Present and Future Modeling of Human Psychiatric Connectopathies With Brain Organoids

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Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk

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Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy

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Identification of pancreatic cancer type related factors by Weighted Gene Co-Expression Network Analysis

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CB1 antagonism increases excitatory synaptogenesis in a cortical spheroid model of fetal brain development

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Drug discovery in psychopharmacology: from 2D models to cerebral organoids

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A chimeric mouse model to study human iPSC-derived neurons: the case of a truncating SHANK3 mutation

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Semaphorin 3A influences neuronal processes that are altered in patients with autism spectrum disorder: Potential diagnostic and therapeutic implications

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Making Sense of Patient-Derived iPSCs, Transdifferentiated Neurons, Olfactory Neuronal Cells, and Cerebral Organoids as Models for Psychiatric Disorders

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Disruption of the gene regulatory programme in neurodevelopmental disorders

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Prenatal low-dose methylmercury exposure causes premature neuronal differentiation and autism-like behaviors in a rodent model

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Deficiency of FABP7 Triggers Premature Neural Differentiation in Idiopathic Normocephalic Autism Organoids

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Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

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Comparing stem cells, transdifferentiation and brain organoids as tools for psychiatric research

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Non-muscle myosin II inhibition at the site of axon injury increases axon regeneration

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Reversibility and therapeutic development for neurodevelopmental disorders, insights from genetic animal models

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Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells

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Cell Reprogramming Preserving Epigenetic Age: Advantages and Limitations

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Clustering Analysis Supports the Detection of Biological Processes Related to Autism Spectrum Disorder

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Natural and forced neurogenesis in the adult brain: mechanisms and their possible application to treat neurological disorders.

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Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome

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Maternal Chronic Ultrasound Stress Provokes Immune Activation and Behavioral Deficits in the Offspring: A Mouse Model of Neurodevelopmental Pathology

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Functional Neurogenomics to Dissect Disease Mechanisms Across Models

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Extracellular vesicles from stem cells rescue cellular phenotypes and behavioral deficits in SHANK3-associated ASD neuronal and mouse models

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Developmental convergence and divergence in human stem cell models of autism spectrum disorderPreprint

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Human brain organoids: an innovative model for neurological disorder research and therapy

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Autism genetics perturb prenatal neurodevelopment through a hierarchy of broadly-expressed and brain-specific genesPreprint

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Enhancer-targeted CRISPR-A rescues haploinsufficiency and mutant phenotypes in organoid models of autismPreprint

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A novel iPSC model reveals selective vulnerability of neurons in Multiple Sulfatase Deficiency

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ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability

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Reproducible Differentiation of Human Pluripotent Stem Cells into Two‐Dimensional Cortical Neuron Cultures with Checkpoints for Success

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Modeling SARS-CoV-2 infection in individuals with opioid use disorder with brain organoids

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Exploring the potential biomarkers for prognosis of glioblastoma via weighted gene co-expression network analysis

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The early overgrowth theory of autism spectrum disorder: Insight into convergent mechanisms from valproic acid exposure and translational models

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Cerebral organoids to unravel the mechanisms underlying malformations of human cortical development

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Loss-of-function Mutations of CUL3, a High Confidence Gene for Psychiatric Disorders, Lead to Aberrant Neurodevelopment In Human Induced Pluripotent Stem Cells

Fischer, S. E., Schlotthauer, I., Kizner, V., Macartney, T., Dorner‐Ciossek, C., & Gillardon, F. (2020) · Neuroscience · doi:10.1016/j.neuroscience.2020.08.028 · Cited by 8

Cell type-specific enhancer-promoter connectivity maps in the human brain and disease risk associationPreprint

Nott, A., Holtman, I., Coufal, N., Schlachetzki, J., Yu, M., Hu, R., Han, C. Z., Pena, M., Xiao, J., Wu, Y., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/778183 · Cited by 11

High-throughput single-cell functional elucidation of neurodevelopmental disease-associated genes reveals convergent mechanisms altering neuronal differentiationPreprint

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Upregulated extracellular matrix-related genes and impaired synaptic activity in dopaminergic and hippocampal neurons derived from Parkinson’s disease patients with PINK1 and PARK2 mutationsPreprint

Tripathi, U., Rosh, I., Ezer, R. B., Nayak, R., Choudhary, A., Djamus, J., Manole, A., Haulden, H., Gage, F. H., & Stern, S. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.12.09.519781 · Cited by 8

Dynamic convergence of neurodevelopmental disorder risk genes across neurodevelopmentPreprint

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Focusing on the tetra-partite synapse in Parkinson’s disease research using human patient-derived neurons

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The potential of induced pluripotent stem cells for discriminating neurodevelopmental disorders

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Interventional Strategies for Parkinson Disease: Can Neural Precursor Cells Forge a Path Ahead?

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The autism-associated gene SYNGAP1 regulates human cortical neurogenesisPreprint

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Epigenome erosion in Alzheimer’s disease brain cells and induced neuronsPreprint

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Multiplex imaging of human induced pluripotent stem cell-derived neurons with CO-Detection by indEXing (CODEX) technology

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Optimization of Transcription Factor-Driven Neuronal Differentiation from Human Induced Pluripotent Stem Cells for Disease Modelling and Drug Screening

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Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome project

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Modeling Psychiatric Diseases with Induced Pluripotent Stem Cells

van Hugte, E., & Kasri, N. N. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-32-9721-0_15 · Cited by 6

Human cortical organoids recapitulate inter-individual variability in infant brain-growth trajectories

Glass, M. R., Matoba, N., Beltran, A. A., Patel, N. K., Farah, T. M., Eswar, K. K., Bhargava, S., Huang, K., Curtin, I., Ahmed, S., et al. (2025) · Cell stem cell · doi:10.1016/j.stem.2025.12.001 · Cited by 11

Improved Method for Efficient Generation of Functional Neurons from Murine Neural Progenitor Cells

Soni, A., Klütsch, D., Hu, X., Houtman, J., Rund, N., McCloskey, A., Mertens, J., Schafer, S. T., Amin, H., & Toda, T. (2021) · Cells · doi:10.3390/cells10081894 · Cited by 5

A novel tailored immune gene pairs signature for overall survival prediction in lower-grade gliomas

Pan, X., Wang, Z., Liu, F., Zou, F., Xie, Q., Guo, Y.-Z., & Shen, L. (2021) · Translational Oncology · doi:10.1016/j.tranon.2021.101109 · Cited by 5

Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly

Fu, C. S., Ngo, J., Zhang, S., Lu, L., Miron, A., Schafer, S. T., Gage, F. H., Jin, F., Schumacher, F. R., & Wynshaw-Boris, A. J. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac300 · Cited by 5

Applying biologically anchored subtypes to advance precision medicine in autism spectrum disorder

Choi, T.-Y., Gunawan, A., Seo, D., Park, J., Ahn, E. H., Suh, S. W., Fuccillo, M. V., & Choi, K. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.107219 · Cited by 5

Level of Expression of MHCI-Presented Neoepitopes Influences Tumor Rejection by Neoantigen-Specific CD8+ T Cells

Deng, L., Walsh, S. R., Nguyen, A., Inkol, J. M., Westerveld, M. J., Chen, L., El-Sayes, N., Mossman, K. L., Workenhe, S. T., & Wan, Y. (2024) · Cancer Immunology Research · doi:10.1158/2326-6066.cir-23-0639 · Cited by 4

Autism- and intellectual disability-associated MYT1L mutation alters human cortical interneuron differentiation, maturation, and physiology

Prakasam, R., Determan, J. J., Chapman, G., Narasimhan, M., Shen, R., Saleh, M., Kaushik, K., Gontarz, P. M., Meganathan, K., Hakim, B., et al. (2025) · Stem Cell Reports · doi:10.1016/j.stemcr.2025.102421 · Cited by 4

Prader-Willi syndrome: Genetics, clinical symptoms, and model systems

Saade, M., Rike, W. A., Sharma, O., Abu-Akel, A. M., & Stern, S. (2025) · Genomic psychiatry : · doi:10.61373/gp025i.0044 · Cited by 3

Integration of structural MRI and epigenetic analyses hint at linked cellular defects of the subventricular zone and insular cortex in autism: Findings from a case study

Takahashi, E., Allan, N. P., Peres, R., Ortuğ, A., van der Kouwe, A. J. W., Valli, B., Ethier, E., Levman, J. E. D., Baumer, N., Tsujimura, K., et al. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.1023665 · Cited by 5

Human brain organoid transplantation: ethical implications of enhancing specific cerebral functions in small-animal models

Harary, P. M., Blue, R., Castellanos, M., Dedhia, M., Hamimi, S. A., Jgamadze, D., Rees, B. W., Seshadri, N., Singh, S., Moreno, J. D., et al. (2023) · Molecular Psychology Brain Behavior and Society · doi:10.12688/molpsychol.17544.1 · Cited by 4

Three-dimensional models of human brain development

Tobon, A., Caporale, N., Trattaro, S., & Testa, G. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814085-7.00011-8 · Cited by 4

Reply to Lombardo, 2020: An additional route of investigation: what are the mechanisms controlling ribosomal protein genes dysregulation in autistic neuronal cells?

Griesi‐Oliveira, K., & Passos‐Bueno, M. R. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-0792-7 · Cited by 4

Analysis of neuronal activity impairment in iPSC-derived neurons from idiopathic autism patients

Kern, A., Román, V., Orbán, T. I., Pál, I., Nagy, J., Lévay, G. I., Lendvai, B., & Némethy, Z. (2025) · iScience · doi:10.1016/j.isci.2025.113615 · Cited by 3

A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms

Chapleau, A., Perrier, S., Durcan, T. M., & Bernard, G. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00533-0 · Cited by 3

Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era

Falker‐Gieske, C. (2023) · Human Genomics · doi:10.1186/s40246-023-00543-y · Cited by 4

Untangling the Molecular Mechanisms Contributing to Autism Spectrum Disorder Using Stem Cells

Mattingly, Z. A., & Chetty, S. (2025) · Autism Research · doi:10.1002/aur.70005 · Cited by 3

Brain organoids

Glass, M. R., Kyere, F. A., French, D. L., Stein, J. L., & Waxman, E. A. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-822277-5.00005-5 · Cited by 4

Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview

Giovenale, A. M. G., Ruotolo, G., Soriano, A. A., Turco, E. M., Rotundo, G., Casamassa, A., D’Anzi, A., Vescovi, A. L., & Rosati, J. D. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.1107881 · Cited by 3

Probing the biological consequences of a previously undescribed de novo mutation of ZMYND11 in a schizophrenia patient by CRISPR genome editing and induced pluripotent stem cell based in vitro disease-modeling

Tordai, C., Hathy, E., Gyergyák, H., Vincze, K., Baradits, M., Koller, J., Póti, Á., Jezsó, B., Homolya, L., Molnár, M. J., et al. (2024) · Schizophrenia Research · doi:10.1016/j.schres.2024.01.024 · Cited by 3

The underlying molecular mechanisms of Fyn in neonatal hypoxic-ischaemic encephalopathy

Zhou, J., Lü, X., & Wang, H. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2024.1476856 · Cited by 3

Using iPSC-Based Models to Understand the Signaling and Cellular Phenotypes in Idiopathic Autism and 16p11.2 Derived Neurons

Turkalj, L., Mehta, M., Matteson, P. G., Prem, S., Williams, M., Connacher, R., DiCicco-Bloom, E. M., & Millonig, J. H. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-45493-7_4 · Cited by 3

Copy Number Variation at 16p11.2 Imparts Transcriptional Alterations in Neural Development in an hiPSC-derived Model of CorticogenesisPreprint

Roth, J. G., Muench, K. L., Asokan, A., Mallett, V. M., Gai, H., Verma, Y., Weber, S. G., Charlton, C. A., Fowler, J. L., Loh, K. M., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.04.22.055731 · Cited by 3

A temporal map of maternal immune activation-induced changes reveals a shift in neurodevelopmental timing and perturbed cortical development in micePreprint

Canales, C. P., Estes, M. L., Cichewicz, K., Angara, K., Aboubechara, J. P., Cameron, S., Prendergast, K., Su-Feher, L., Zdilar, I., Kreun, E. J., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.13.150359 · Cited by 3

Pathological Priming and Developmental Heterochrony as Organizing Concepts in Human iPSC Models of Autism Spectrum Disorder

Jahandideh, P., & Bitaraf, A. (2026) · Molecular Neurobiology · doi:10.1007/s12035-026-06252-6

Brain development in autism: Timing is everything

Andreae, L. C. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aaw5314 · Cited by 1

Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons

DeRosa, B. A., Hokayem, J. A. E., Artimovich, E., Garcia‐Serje, C., Phillips, A. W., Booven, D. V., Nestor, J. E., Wang, L., Cuccaro, M. L., Vance, J. M., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-26495-1 · Cited by 93

Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals

Adhya, D., Swarup, V., Nagy, R., Polit, L. D., Shum, C., Valencia-Alarcón, E. P., Jozwik, K. M., Méndez, M. A., Horder, J., Loth, E., et al. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.06.014 · Cited by 65

Using Human Induced Neural Precursor Cells to Define Early Neurodevelopmental Defects in Syndromic and Idiopathic Autism

Connacher, R., DiCicco-Bloom, E. M., & Millonig, J. H. (2018) · Current Pharmacology Reports · doi:10.1007/s40495-018-0155-0 · Cited by 4