Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder

Deshpande, Aditi, Yadav, Smita, Dao, Dang Q., Wu, Zhi-Yong, Hokanson, Kenton C., Cahill, Michelle K., Wiita, Arun P., Jan, Yuh-Nung, Ullian, Erik M., Weiss, Lauren A.·2017·Cell Reports
DOI 10.1016/j.celrep.2017.11.037

Cited by (156)

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  15. Convergence and divergence of molecular phenotypes in iPSC-derived models of 16p11.2 and 22q11.2 reciprocal copy number variants
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  17. Cerebellar structure and function abnormalities in 16p11.2 microduplication mice
    Cessily Hayes, Hunter E. Halverson, Krisha Keeran, Krislen Tison, Kamilla Jacobo, Asriya Karki, Isaias Herring, Sri Naga Swetha Tunuguntla, Martha Pace, Binh Doan et al. · 2026 · Brain Communications
  18. Complete and haplotype-specific sequence assembly of segmental duplication-mediated genome rearrangements using CRISPR-targeted ultra-long read sequencing (CTLR-Seq)
    Bo Zhou, Gi Won Shin, Stephanie Greer, Lisanne Vervoort, Yi‐Ling Huang, Reenal Pattni, Marcus Ho, Wing Hung Wong, Joris Robert Vermeesch, Hanlee P. Ji et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  19. Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes
    Fang Liu, Liang Chen, Zhengchang Li, Sen Zhao, Shaofang Shangguan, Haiming Yuan, Ruen Yao, Zailong Qin, Shujie Zhang, Li‐Ping Zou et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  20. TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication Carriers
    Amy Ferreccio, Sujin Byeon, Moira Cornell, Juan A. Osés-Prieto, Aditi Deshpande, Lauren A. Weiss, Alma L. Burlingame, Smita Yadav · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  21. A Review of the Placenta and Trophoblast Induced Pluripotent Stem Cells in Autism Spectrum Disorder Research
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  22. Phenotypic and Evolutionary Consequences of Deletion, Duplication, and Triplication at 16p11.2
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  23. Autism human neural precursor cells exhibit common defects in neurite outgrowth, cell migration, and mTOR signaling
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  24. Antiviral signalling in human IPSC-derived neurons recapitulates neurodevelopmental disorder phenotypes
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  25. Human induced pluripotent stem cell-based studies; a new route toward modeling autism spectrum disorders
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  26. WITHDRAWN: A significant effect of the HUWE1 copy number on autistic spectrum disorder and the development of zebrafish
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  28. [Facioacromelic disostosis with metal retardation (author's transl)].
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  29. 16p11.2 locus decelerates subpallial maturation and limits variability in human iPSC-derived ventral telencephalic organoids
    Rana Fetit, Thomas Theil, Thomas Pratt, David Jonathan Price · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  30. Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs
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  31. 16p11.2 Microduplication is Associated with Lobule-Specific Abnormalities in Cerebellar Structure and Function
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  32. Additional file 6 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  33. Additional file 13 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  34. Additional file 5 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  35. Additional file 10 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  36. Additional file 4 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  37. Additional file 8 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
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  38. Dynamic Regulation OF The Chromatin Environment By Ash1L Modulates Human Neuronal Structure And Function
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  39. Direct pathway bias and altered striatal neurogenesis in human iPSC models of 16p11.2 CNVs: Evidence from single-cell and functional analyses
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  40. Inhibition of the neurodevelopmental disorder-associated 16p11.2 gene QPRT leads to altered cell type distribution in human stem cell-derived cerebral organoids
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  41. Use of brain organoids for autism
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  42. Additional file 2 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  43. Additional file 1 of Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion
    Yang, Yifei, Booker, Sam A., Clegg, James M., Idoia Quintana Urzainqui, Anna Sumera, Zrinko Kozić, Owen Dando, Sandra Martín Lorenzo, Yann Hérault, Peter C. Kind et al. · 2024 · Figshare
  44. Additional file 3 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  45. Additional file 9 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Turner, Tychele N., James E. Huettner et al. · 2021 · Figshare
  46. Additional file 1 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  47. Additional file 11 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  48. Additional file 12 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  49. Additional file 14 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  50. Additional file 7 of Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
    Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul M. Gontarz, Bo Zhang, Urano, Fumihiko, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner et al. · 2021 · Figshare
  51. Induced pluripotent stem cells in autism research: a review of current advances and future directions
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  53. PAK1 and NF2 antagonist functions in regulating central nervous system myelination : from modulation of oligodendrocyte cytoskeleton to myelin sheath formation
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  54. 16p11.2 Copy Number Variation Alters Genome Architecture and Transcriptional Regulation During Neurodevelopment
    Marco Bertin, Marcel Misak, Mohit Navandar, Azza Soliman, Ruxandra A. Lambuta, Roshan Tumdam, Jennifer Winter, Matthias Linke, Stephan Käseberg, Malin Dewenter et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  55. Synaptic and Circuit Mechanisms Shaping Neurodevelopmental and Psychiatric Outcomes Associated with 16p11.2 Copy Number Variation
    Alžbeta Námešná, Jasmine Pickford, Jérémy Hall, Marianne B. M. van den Bree, Luke Tait, Lawrence S. Wilkinson, Matthew W. Jones · 2026 · Genes
  56. 16p11.2 microdeletion enhances gene expression variability between human IPSC-derived forebrain interneuron progenitor cells in culture
    Yifei Yang, Idoia Quintana Urzainqui, Thomas Pratt · 2026 · Frontiers in Molecular Neuroscience