Amplification of human interneuron progenitors promotes brain tumors and neurological defects

A Programmable Dual-RNA–Guided DNA Endonuclease in Adaptive Bacterial Immunity

Jinek, M., Chylinski, K., Fonfara, I., Hauer, M., Doudna, J. A., & Charpentier, E. (2012) · Science · doi:10.1126/science.1225829 · Cited by 17,116

UMAP: Uniform Manifold Approximation and Projection

McInnes, L., Healy, J., Saul, N., & Großberger, L. (2018) · Journal of Open Source Software · doi:10.21105/joss.00861 · Cited by 9,826

Mutation and cancer: statistical study of retinoblastoma

Knudson, A. G. (1971) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.68.4.820 · Cited by 7,612

The dynamics and regulators of cell fate decisions are revealed by pseudotemporal ordering of single cells

Trapnell, C., Cacchiarelli, D., Grimsby, J., Pokharel, P., Li, S., Morse, M., Lennon, N. J., Livak, K. J., Mikkelsen, T. S., & Rinn, J. L. (2014) · Nature Biotechnology · doi:10.1038/nbt.2859 · Cited by 7,314

From Louvain to Leiden: guaranteeing well-connected communities

Traag, V. A., Waltman, L., & van Eck, N. J. (2019) · Scientific Reports · doi:10.1038/s41598-019-41695-z · Cited by 5,635

Cerebral organoids model human brain development and microcephaly

Lancaster, M. A., Renner, M., Martin, C.-A., Wenzel, D., Bicknell, L. S., Hurles, M. E., Homfray, T., Penninger, J. M., Jackson, A. P., & Knoblich, J. A. (2013) · Nature · doi:10.1038/nature12517 · Cited by 5,372

Reversed graph embedding resolves complex single-cell trajectories

Qiu, X., Mao, Q., Tang, Y., Wang, L., Chawla, R., Pliner, H. A., & Trapnell, C. (2017) · Nature Methods · doi:10.1038/nmeth.4402 · Cited by 5,070

Skyline: an open source document editor for creating and analyzing targeted proteomics experiments

MacLean, B., Tomazela, D. M., Shulman, N., Chambers, M., Finney, G. L., Frewen, B., Kern, R., Tabb, D. L., Liebler, D. C., & MacCoss, M. J. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq054 · Cited by 4,697

The single-cell transcriptional landscape of mammalian organogenesis

Cao, J., Spielmann, M., Qiu, X., Huang, X., Ibrahim, D. M., Hill, A. J., Zhang, F., Mundlos, S., Christiansen, L., Steemers, F. J., et al. (2019) · Nature · doi:10.1038/s41586-019-0969-x · Cited by 4,490

Data-Driven Phenotypic Dissection of AML Reveals Progenitor-like Cells that Correlate with Prognosis

Levine, J. H., Simonds, E. F., Bendall, S. C., Davis, K. L., Amir, E.-A. D., Tadmor, M. D., Litvin, O., Fienberg, H. G., Jager, A., Zunder, E. R., et al. (2015) · Cell · doi:10.1016/j.cell.2015.05.047 · Cited by 2,303

Neurodevelopmental Disorders: From Genetics to Functional Pathways

Parenti, I., Rabaneda, L. G., Schoen, H., & Novarino, G. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.05.004 · Cited by 687

Human cerebral organoids — a new tool for clinical neurology research

Eichmüller, O. L., & Knoblich, J. A. (2022) · Nature Reviews Neurology · doi:10.1038/s41582-022-00723-9 · Cited by 319

Single-cell brain organoid screening identifies developmental defects in autism

Li, C., Fleck, J. S., Martins-Costa, C., Burkard, T. R., Themann, J., Stuempflen, M., Peer, A. M., Vertesy, Á., Littleboy, J. B., Esk, C., et al. (2023) · Nature · doi:10.1038/s41586-023-06473-y · Cited by 283

Organoids: The current status and biomedical applications

Yang, S., Hu, H., Kung, H., Zou, R.-Q., Dai, Y.-S., Hu, Y.-F., Wang, T., Lv, T., Yu, J., & Li, F. (2023) · MedComm · doi:10.1002/mco2.274 · Cited by 300

Human organoids: New strategies and methods for analyzing human development and disease

Corsini, N. S., & Knoblich, J. A. (2022) · Cell · doi:10.1016/j.cell.2022.06.051 · Cited by 176

Genetics of human brain development

Zhou, Y. F., Song, H., & Ming, G. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00626-5 · Cited by 195

Epithelial–mesenchymal transition: The history, regulatory mechanism, and cancer therapeutic opportunities

Huang, Z., Zhang, Z., Zhou, C., Liu, L., & Huang, C. (2022) · MedComm · doi:10.1002/mco2.144 · Cited by 179

New epilepsy therapies in development

Klein, P., Kaminski, R. M., Koepp, M. J., & Löscher, W. (2024) · Nature Reviews Drug Discovery · doi:10.1038/s41573-024-00981-w · Cited by 166

Modelling human brain development and disease with organoids

Birtele, M., Lancaster, M. A., & Quadrato, G. (2024) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-024-00804-1 · Cited by 177

mTOR and neuroinflammation in epilepsy: implications for disease progression and treatment

Ravizza, T., Scheper, M., Di Sapia, R., Gorter, J., Aronica, E., & Vezzani, A. (2024) · Nature Reviews Neuroscience · doi:10.1038/s41583-024-00805-1 · Cited by 141

In vitro modeling of the human dopaminergic system using spatially arranged ventral midbrain–striatum–cortex assembloids

Reumann, D., Krauditsch, C., Novatchkova, M., Sozzi, E., Wong, S. N., Zabolocki, M., Priouret, M., Doleschall, B., Ritzau‐Reid, K. I., Piber, M., et al. (2023) · Nature Methods · doi:10.1038/s41592-023-02080-x · Cited by 115

mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy

Gerasimenko, A., Baldassari, S., & Baulac, S. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106144 · Cited by 85

Gruffi: an algorithm for computational removal of stressed cells from brain organoid transcriptomic datasets

Vértesy, Á., Eichmüller, O. L., Naas, J., Novatchkova, M., Esk, C., Balmaña, M., Ladstätter, S., Bock, C., von Haeseler, A., & Knoblich, J. A. (2022) · The EMBO Journal · doi:10.15252/embj.2022111118 · Cited by 70

Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy

Aronica, E., Specchio, N., Luinenburg, M. J., & Curatolo, P. (2023) · Brain · doi:10.1093/brain/awad048 · Cited by 74

Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies

Nguyen, L. H., & Bordey, A. (2021) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2021.664695 · Cited by 69

The pyruvate dehydrogenase complex: Life’s essential, vulnerable and druggable energy homeostat

Stacpoole, P. W., & McCall, C. E. (2023) · Mitochondrion · doi:10.1016/j.mito.2023.02.007 · Cited by 70

The role of organoids in cancer research

Fang, Z., Li, P., Du, F., Shang, L., & Li, L. (2023) · Experimental Hematology and Oncology · doi:10.1186/s40164-023-00433-y · Cited by 68

Morphogenesis and development of human telencephalic organoids in the absence and presence of exogenous extracellular matrix

Martins‐Costa, C., Pham, V. A., Sidhaye, J., Novatchkova, M., Wiegers, A., Peer, A. M., Möseneder, P., Corsini, N. S., & Knoblich, J. A. (2023) · The EMBO Journal · doi:10.15252/embj.2022113213 · Cited by 60

Organoids from pluripotent stem cells and human tissues: When two cultures meet each other

Artegiani, B., & Hendriks, D. F. G. (2025) · Developmental Cell · doi:10.1016/j.devcel.2025.01.005 · Cited by 54

Development and Application of Brain Region–Specific Organoids for Investigating Psychiatric Disorders

Zhang, Z., Wang, X., Park, S. S., Song, H., & Ming, G. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2022.12.015 · Cited by 49

The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders – Evidence from human neuronal cell models

Réthelyi, J., Vincze, K., Schall, D., Glennon, J. C., & Berkel, S. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105330 · Cited by 51

Stem Cell–Based Organoid Models of Neurodevelopmental Disorders

Wang, L., Owusu-Hammond, C., Sievert, D., & Gleeson, J. G. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.01.012 · Cited by 44

Applications of organoid technology to brain tumors

Wen, J., Liu, F., Cheng, Q., Weygant, N., Liang, X., Fan, F., Li, C., Zhang, L., & Liu, Z. (2023) · CNS Neuroscience & Therapeutics · doi:10.1111/cns.14272 · Cited by 44

What Have Organoids and Assembloids Taught Us About the Pathophysiology of Neuropsychiatric Disorders?

Levy, R. J., & Pașca, S. P. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2022.11.017 · Cited by 45

Microfibrous Scaffolds Guide Stem Cell Lumenogenesis and Brain Organoid Engineering

Ritzau‐Reid, K. I., Callens, S. J. P., Xie, R., Cihova, M., Reumann, D., Grigsby, C. L., Prados‐Martin, L., Wang, R., Moore, A. C., Armstrong, J. P. K., et al. (2023) · Advanced Materials · doi:10.1002/adma.202300305 · Cited by 40

Unlocking Neural Function with 3D In Vitro Models: A Technical Review of Self-Assembled, Guided, and Bioprinted Brain Organoids and Their Applications in the Study of Neurodevelopmental and Neurodegenerative Disorders

D’Antoni, C., Mautone, L., Sanchini, C., Tondo, L., Grassmann, G., Cidonio, G., Bezzi, P., Cordella, F., & Angelantonio, S. D. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241310762 · Cited by 41

Research models of neurodevelopmental disorders: The right model in the right place

Damianidou, E., Mouratidou, L., & Kyrousi, C. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.1031075 · Cited by 41

Neuron–Glia Interactions in Tuberous Sclerosis Complex Affect the Synaptic Balance in 2D and Organoid Cultures

Dooves, S., van Velthoven, A. J. H., Suciati, L. G., & Heine, V. M. (2021) · Cells · doi:10.3390/cells10010134 · Cited by 38

Induced Pluripotent Stem Cells and Organoids in Advancing Neuropathology Research and Therapies

Pazzin, D. B., Previato, T. T. R., Gonçalves, J. I. B., Zanirati, G., Xavier, F. A. C., DaCosta, J. C., & Marinowic, D. R. (2024) · Cells · doi:10.3390/cells13090745 · Cited by 36

Advances and Applications of Brain Organoids

Li, Y., Zeng, P.-M., Wu, J., & Luo, Z. (2023) · Neuroscience Bulletin · doi:10.1007/s12264-023-01065-2 · Cited by 40

Protracted neuronal recruitment in the temporal lobes of young children

Nascimento, M. A., Biagiotti, S. W., Herranz‐Pérez, V., Santiago, S., Bueno, R., Ye, C., Abel, T. J., Zhang, Z., Rubio-Moll, J. S., Kriegstein, A. R., et al. (2023) · Nature · doi:10.1038/s41586-023-06981-x · Cited by 38

Somatic mutations alter the differentiation outcomes of iPSC-derived neurons

Puigdevall, P., Jerber, J., Danecek, P., Castellano, S., & Kilpinen, H. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100280 · Cited by 29

The Neurovascular Unit Dysfunction in the Molecular Mechanisms of Epileptogenesis and Targeted Therapy

Liu, X., Zhang, Y., Zhao, Y., Zhang, Q., & Han, F. (2024) · Neuroscience Bulletin · doi:10.1007/s12264-024-01193-3 · Cited by 29

Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR

Boßelmann, C. M., Leu, C., Brünger, T., Hoffmann, L., Baldassari, S., Chipaux, M., Coras, R., Kobow, K., Hamer, H. M., Delev, D., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-54911-w · Cited by 27

Current Review in Basic Science: Animal Models of Focal Cortical Dysplasia and Epilepsy

Nguyen, L. H., & Bordey, A. (2022) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597221098230 · Cited by 21

Modeling Brain Tumors: A Perspective Overview of in vivo and Organoid Models

Antonica, F., Aiello, G., Soldano, A., Abballe, L., Miele, E., & Tiberi, L. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.818696 · Cited by 28

Mechanistic target of rapamycin signaling in human nervous system development and disease

Girodengo, M., Ultanir, S. K., & Bateman, J. E. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.1005631 · Cited by 28

Shaping the cerebral cortex by cellular crosstalk

Stoufflet, J., Tielens, S., & Nguyen, L. (2023) · Cell · doi:10.1016/j.cell.2023.05.040 · Cited by 28

Accounting for cis-regulatory constraint prioritizes genes likely to affect species-specific traits

Starr, A. L., Gokhman, D., & Fraser, H. B. (2023) · Genome biology · doi:10.1186/s13059-023-02846-8 · Cited by 21

Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5 ‐Related Epilepsy

Kao, H., Yao, Y., Yang, T., Ziobro, J. M., Zylinski, M., Mir, M. Y., Hu, S., Cao, R., Borna, N. N., Banerjee, R., et al. (2023) · Annals of Neurology · doi:10.1002/ana.26773 · Cited by 22

Development of GABAergic Interneurons in the Human Cerebral Cortex

Marín, Ó. (2025) · European Journal of Neuroscience · doi:10.1111/ejn.70136 · Cited by 22

Brain Organoids and Assembloids—From Disease Modeling to Drug Discovery

Ajongbolo, A. O., & Langhans, S. A. (2025) · Cells · doi:10.3390/cells14110842 · Cited by 25

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

Bizzotto, S., Talukdar, M., Stronge, E., Ramirez, R. B., Yang, Y., Huang, A. Y., Hu, Q., Hou, Y., Hylton, N. K., Finander, B., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2509622122 · Cited by 23

Deciphering the physiopathology of neurodevelopmental disorders using brain organoids

Dionne, O., Sabatié, S., & Laurent, B. (2024) · Brain · doi:10.1093/brain/awae281 · Cited by 22

Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model

Avansini, S. H., Puppo, F., Adams, J. W., Vieira, A. S., Coan, A. C., Rogério, F., Torres, F. R., Araújo, P. A. O. R. D. A., Martin, M., Montenegro, M. A., et al. (2021) · Brain · doi:10.1093/brain/awab479 · Cited by 20

ResNet-SVM: Fusion based glioblastoma tumor segmentation and classification

Sahli, H., Slama, A. B., Zeraii, A., Labidi, S., & Sayadi, M. (2022) · Journal of X-Ray Science and Technology · doi:10.3233/xst-221240 · Cited by 22

Utilizing human cerebral organoids to model breast cancer brain metastasis in culture

Wang, C., Nagayach, A., Patel, H., Dao, L., Zhu, H., Wasylishen, A. R., Fan, Y., Kendler, A., & Guo, Z. (2024) · Breast Cancer Research · doi:10.1186/s13058-024-01865-y · Cited by 20

Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment

Vasić, V., Jones, M. S. O., Haslinger, D., Knaus, L. S., Schmeißer, M. J., Novarino, G., & Chiocchetti, A. G. (2021) · Genes · doi:10.3390/genes12111746 · Cited by 17

Cerebral organoids as an in vitro model to study autism spectrum disorders

Rabeling, A., & Goolam, M. (2022) · Gene Therapy · doi:10.1038/s41434-022-00356-z · Cited by 17

Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?

Curatolo, P., Scheper, M., Gialloreti, L. E., Specchio, N., & Aronica, E. (2023) · World Journal of Pediatrics · doi:10.1007/s12519-023-00762-2 · Cited by 18

Meta-analysis of single-cell RNA sequencing co-expression in human neural organoids reveals their high variability in recapitulating primary tissue

Werner, J. M., & Gillis, J. (2024) · PLoS Biology · doi:10.1371/journal.pbio.3002912 · Cited by 21

The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development

Ma, Q., Chen, G., Li, Y., Guo, Z., & Zhang, X. (2023) · Genes & Diseases · doi:10.1016/j.gendis.2023.04.041 · Cited by 18

High-Content Screening and Analysis of Stem Cell-Derived Neural Interfaces Using a Combinatorial Nanotechnology and Machine Learning Approach

Yang, L., Conley, B. M., Yoon, J., Rathnam, C., Pongkulapa, T., Conklin, B., Hou, Y., & Lee, K. (2022) · Research · doi:10.34133/2022/9784273 · Cited by 14

A Comprehensive Review on Utilizing Human Brain Organoids to Study Neuroinflammation in Neurological Disorders

Rubio, A. D., Hamilton, L. L., Bausch, M., Jin, M., Papetti, A. V., Jiang, P., & Yelamanchili, S. V. (2025) · Journal of Neuroimmune Pharmacology · doi:10.1007/s11481-025-10181-x · Cited by 17

Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate

Wang, S., Ma, R., Gao, C., Tian, Y.-N., Hu, R., Zhang, H., Li, L., & Li, Y. (2025) · Stem Cell Research & Therapy · doi:10.1186/s13287-025-04170-3 · Cited by 15

Tuberous sclerosis complex

Winden, K. D., Bebin, E. M., Jeste, S., Krueger, D. A., Paul, E., & Sahin, M. (2026) · Nature Reviews Disease Primers · doi:10.1038/s41572-026-00688-9 · Cited by 12

Pluripotent stem cell‐derived organoids: A brief history of curiosity‐led discoveries

Lancaster, M. A. (2024) · BioEssays · doi:10.1002/bies.202400105 · Cited by 11

Quantitative profiling of human brain organoid cell diversity across four protocols and multiple cell lines

Naas, J., Balmaña, M., Holcik, L., Novatchkova, M., Dobnikar, L., Krausgruber, T., Ladstätter, S., Bock, C., von Haeseler, A., Esk, C., et al. (2025) · Cell Reports · doi:10.1016/j.celrep.2025.116168 · Cited by 14

Advances in construction and modeling of functional neural circuits in vitro

Chow, S. Y. A., Hu, H., Osaki, T., Levi, T., & Ikeuchi, Y. (2022) · Neurochemical Research · doi:10.1007/s11064-022-03682-1 · Cited by 12

Single cell spatial biology over developmental time can decipher pediatric brain pathologies

Nussinov, R., Yavuz, B. R., & Jang, H. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2024.106597 · Cited by 12

Oncogenic fusions converge on shared mechanisms in initiating astroblastoma

Shi, Y., Sun, Q., Jia, F., Xie, X., Zhou, X., Guo, R., Zeng, Y., Chen, S., Guo, Z., Sun, W., et al. (2025) · Nature · doi:10.1038/s41586-025-08981-5 · Cited by 10

A Robust Pipeline for the Multi‐Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells

Whye, D., Wood, D., Saber, W. A., Norabuena, E. M., Makhortova, N. R., Şahin, M., & Buttermore, E. D. (2023) · Current Protocols · doi:10.1002/cpz1.641 · Cited by 13

Optimization and scaling of patient-derived brain organoids uncovers deep phenotypes of diseasePreprint

Shah, K. D., Bedi, R., Rogozhnikov, A., Ramkumar, P., Tong, Z., Rash, B. G., Stanton, M. M., Sorokin, J. M., Apaydin, C., Batarse, A., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.08.26.251611 · Cited by 11

Tsc2 coordinates neuroprogenitor differentiation

Riley, V. A., Shankar, V., Holmberg, J. C., Sokolov, A. M., Neckles, V. N., Williams, K., Lyman, R. A., Mackay, T. F. C., & Feliciano, D. M. (2023) · iScience · doi:10.1016/j.isci.2023.108442 · Cited by 10

The production and functions of caudal ganglionic eminence-derived inhibitory neurons

Horton, E. C., & Paredes, M. F. (2025) · Trends in Neurosciences · doi:10.1016/j.tins.2025.06.007 · Cited by 9

Modeling tuberous sclerosis with organoids

Ihrie, R. A., & Henske, E. P. (2022) · Science · doi:10.1126/science.abn6158 · Cited by 9

Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis

Payne, J. M., Haebich, K. M., Mitchell, R. A., Bozaoglu, K., Giliberto, E., Lockhart, P. J., Maier, A., Velasco, S., Ball, G., North, K. N., et al. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02863-4 · Cited by 8

Brain organoids: a new paradigm for studying human neuropsychiatric disorders

Sun, Y. E., & Pan, W. (2025) · Frontiers in Neuroscience · doi:10.3389/fnins.2025.1699814 · Cited by 10

In vitro human cell culture models in a bench‐to‐bedside approach to epilepsy

Danačíková, Š., Straka, B., Daněk, J., Kořínek, V., & Otáhal, J. (2024) · Epilepsia Open · doi:10.1002/epi4.12941 · Cited by 7

Modeling tuberous sclerosis complex with human induced pluripotent stem cells

Niu, W., Siciliano, B., & Wen, Z. (2022) · World Journal of Pediatrics · doi:10.1007/s12519-022-00576-8 · Cited by 8

Biomedical applications of organoids in genetic diseases

Huang, W., Jeong, S., Kim, W., & Chen, L. (2024) · Medical Review · doi:10.1515/mr-2024-0077 · Cited by 7

cGAS–STING pathway modulation: A new hope for neural regeneration

Zhang, J., Sun, M., Luo, Y., Räisänen, M. P., Peng, L., Qin, L., Yu, M., & Shi, H. (2025) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-24-01516 · Cited by 7

TSC tunes progenitor balance and upper-layer neuron generation in neocortex

Casingal, C. R., Nakagawa, N., Yabuno-Nakagawa, K., Meyer, C., Liu, S., Gkini, V., Cho, S.-J., Škarica, M., Liang, D., Simon, J. M., et al. (2025) · Nature · doi:10.1038/s41586-025-09810-5 · Cited by 8

Modelling brain tumours with organoids: towards precision medicine in neuro-oncology

Sanz, M. D. L., Niclou, S. P., & Golebiewska, A. (2026) · Nature Reviews Neurology · doi:10.1038/s41582-026-01190-2 · Cited by 8

Approaches to investigating metabolism in human neurodevelopment using organoids: insights from intestinal and cancer studies

Morales, A. S. M., & Andrews, M. G. (2022) · Development · doi:10.1242/dev.200506 · Cited by 7

Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome

Chalkley, M. L., Guerin, L. N., Iyer, T., Mallahan, S., Nelson, S., Şahin, M., Hodges, E. C., Ess, K. C., & Ihrie, R. A. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddae199 · Cited by 6

Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders—Implications for Individuals with Rett Syndrome: A Systematic Review

Singh, J., Goodman-Vincent, E., & Santosh, P. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24109023 · Cited by 8

Pediatric brain tumors as a developmental disease

Bruschi, M., Grill, J., & Guerrini‐Rousseau, L. (2021) · Current Opinion in Oncology · doi:10.1097/cco.0000000000000782 · Cited by 8

mTORC1 activation drives astrocyte reactivity in cortical tubers and brain organoid models of TSCPreprint

Li, T. L., Blair, J. D., Yoo, T., Grant, G. A., Hockemeyer, D. F., Porter, B. E., & Bateup, H. S. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.02.28.640914 · Cited by 8

Artificial Intelligence: Fundamentals and Breakthrough Applications in Epilepsy

Kerr, W. T., Acosta, S., Kwan, P., Worrell, G. A., & Mikati, M. A. (2024) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597241238526 · Cited by 6

A comparative view of human and mouse telencephalon inhibitory neuron development

Chung, C., Girgiss, J., & Gleeson, J. G. (2025) · Development · doi:10.1242/dev.204306 · Cited by 6

Specific Features of Focal Cortical Dysplasia in Tuberous Sclerosis Complex

Bychkova, E. Y., Dorofeeva, M. Y., Levov, A. V., Kislyakov, A. N., Karandasheva, K., Strelnikov, V. V., & Аношкин, К. И. (2023) · Current Issues in Molecular Biology · doi:10.3390/cimb45050254 · Cited by 8

Exploring the prospects, advancements, and challenges of in vitro modeling of the heart-brain axis

Mabry, S. A., & Pavon, N. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2024.1386355 · Cited by 6

Multiparameter quantitative analyses of diagnostic cells in brain tissues from tuberous sclerosis complex

Arceneaux, J. S., Brockman, A. A., Khurana, R., Chalkley, M. L., Geben, L. C., Krbanjevic, A., Vestal, M. L., Zafar, M., Weatherspoon, S. E., Mobley, B. C., et al. (2024) · Cytometry Part B Clinical Cytometry · doi:10.1002/cyto.b.22194 · Cited by 6

Tsc2 shapes olfactory bulb granule cell molecular and morphological characteristics

Riley, V. A., Holmberg, J. C., Sokolov, A. M., & Feliciano, D. M. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.970357 · Cited by 6

Modeling Liver Development and Disease in a Dish

Iqbal, W., Wang, Y., Sun, P., & Zhou, X. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242115921 · Cited by 6

Morphogenesis and development of human telencephalic organoids in the absence and presence of exogenous ECMPreprint

Martins‐Costa, C., Pham, V. A., Sidhaye, J., Novatchkova, M., Peer, A. M., Möseneder, P., Corsini, N. S., & Knoblich, J. A. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.12.06.519271 · Cited by 6

Reconstructing human corticogenesis: Insights from cerebral organoids into neurodevelopment and disease modeling

Tenreiro, M. F., & Muotri, A. R. (2026) · Developmental Cell · doi:10.1016/j.devcel.2026.02.018 · Cited by 6

iPSCs-Derived Neurons and Brain Organoids from Patients

Zhu, W., Xu, L., Li, X., Hu, H., Lou, S.-N., & Liu, Y. (2023) · Handbook of experimental pharmacology · doi:10.1007/164_2023_657 · Cited by 5

Cutting-edge technologies illuminate the neural landscape of cancer: Insights into tumor development

Wang, Y., Wang, Z., Mao, X., Zhang, H., Zhang, L., Yang, Y., Liu, B., Li, X., Luo, F., & Sun, H. (2025) · Cancer Letters · doi:10.1016/j.canlet.2025.217667 · Cited by 5

A bitopic mTORC inhibitor reverses phenotypes in a tuberous sclerosis complex model

Mukherjee, S., Wolan, M. J., Scott, M. K., Riley, V. A., Sokolov, A. M., & Feliciano, D. M. (2025) · Scientific Reports · doi:10.1038/s41598-025-08345-z · Cited by 5

Longitudinal multi-omics reveals pathogenic TSC2 variants disrupt developmental trajectories of human cortical organoids derived from Tuberous Sclerosis ComplexPreprint

Niu, W., Yu, S., Li, X., Wang, Z., Chen, R., Michalski, C., Jahangiri, A., Zohdy, Y. M., Chern, J. J., Whitworth, T. J., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.10.07.617121 · Cited by 7

New insights into tuberous sclerosis complex: from structure to pathogenesis

Chen, C.-S., & Aylett, C. H. S. (2025) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2025.1595867 · Cited by 8

Delayed forebrain excitatory and inhibitory neurogenesis in STRADA-related megalencephaly via mTOR hyperactivity

Pan, T., Lin, G., Li, X., VanHeyningen, D., Walker, J. C., Kohli, S., Saravanan, A., Kondur, A., Jaklic, D. C., Pantoja-Gutierrez, S., et al. (2026) · Stem Cell Reports · doi:10.1016/j.stemcr.2026.102833 · Cited by 4

Personalized Human Astrocyte‐Derived Region‐Specific Forebrain Organoids Recapitulate Endogenous Pathological Features of Focal Cortical Dysplasia

Jin-hong, X., Kong, Y., Wang, N., Li, H., Li, Y., Liu, Z., Yang, Y., Yu, X., Liu, H., Ding, J., et al. (2024) · Advanced Science · doi:10.1002/advs.202409774 · Cited by 6

Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit

Brown, J. A., Faley, S. L., Judge, M., Ward, P., Ihrie, R. A., Carson, R., Armstrong, L. C., Şahin, M., Wikswo, J. P., Ess, K. C., et al. (2024) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-024-09543-y · Cited by 5

Cortical Gyrification Is Associated With the Clinical Phenotype in Tuberous Sclerosis Complex

Trevisan, N., Brunello, F., Sambataro, F., Biscalchin, G., Nosadini, M., Sartori, S., Luisi, C., Pelizza, M. F., Manara, R., & Toldo, I. (2024) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2024.09.012 · Cited by 4

CRISPR-Cas9-Mediated Correction of TSC2 Pathogenic Variants in iPSCs from Patients with Tuberous Sclerosis Complex Type 2

Guo, G., Moser, M., Chifamba, L., Julian, D. L., Teierle, S., Rajappa, P., Miller, C. R., & Hester, M. E. (2024) · The CRISPR Journal · doi:10.1089/crispr.2024.0079 · Cited by 4

Human pluripotent stem cell (hPSC)-derived models for autism spectrum disorder drug discovery

Nie, L., Irwin, C. L., Geahchan, S., & Singh, K. K. (2024) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2024.2416484 · Cited by 4

Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders

Yang, Z., Teaney, N. A., Buttermore, E. D., Şahin, M., & Saber, W. A. (2025) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1524577 · Cited by 4

Establishment of Human Brain Organoid Models of Tuberous Sclerosis

Blair, J. D. (2020) · eScholarship (California Digital Library)

New frontiers in modeling tuberous sclerosis with human stem cell‐derived neurons and brain organoids

Blair, J. D., & Bateup, H. S. (2019) · Developmental Dynamics · doi:10.1002/dvdy.60 · Cited by 37

Directed Differentiation and Functional Maturation of Cortical Interneurons from Human Embryonic Stem Cells

Maroof, A. M., Keros, S., Tyson, J. A., Ying, S.-W., Ganat, Y. M., Merkle, F. T., Liu, B., Goulburn, A., Stanley, E. G., Elefanty, A. G., et al. (2013) · Cell Stem Cell · doi:10.1016/j.stem.2013.04.008 · Cited by 596

Modeling Human Brain Development And Disease In Stem Cell Derived 3D Organoid Culture

Knoblich, J. A. (2017) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2016.09.376 · Cited by 1

Modeling human neurodevelopmental diseases with brain organoids

Lu, X., Yang, J., & Xiang, Y. (2022) · Cell Regeneration · doi:10.1186/s13619-021-00103-6 · Cited by 50