Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

Arbogast, Thomas, Ouagazzal, Abdel-Mouttalib, Chevalier, Claire, Kopanitsa, Maksym, Afinowi, Nurudeen, Migliavacca, Eugenia, Cowling, Belinda S., Birling, Marie-Christine, Champy, Marie-France, Reymond, Alexandre, Herault, Yann·2016·PLOS Genetics
DOI 10.1371/journal.pgen.1005709

Cited by (165)

Items 101–165 of 165

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  4. Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  5. Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in brain phenotypes and unveils a new role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Anna Mikhaleva, Marie‐Christine Fischer, Maxence Milhau, Riccardo Brambilla et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  6. Advances in epilepsy associated with 16p11.2 microdeletion syndrome
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  7. Convergence and divergence of molecular phenotypes in iPSC-derived models of 16p11.2 and 22q11.2 reciprocal copy number variants
    Sandeep Rajkumar, Carrie E. Bearden, Jonathan L. Sebat, Lilia M. Iakoucheva · 2026 · Current Opinion in Genetics & Development
  8. Neuroimaging Findings for Developmental Coordination Disorder (DCD) in Adults: Critical Evaluation and Future Directions
    Agnieszka Anna Reid · 2019 · IntechOpen eBooks
  9. Oligogenic Effects of 16p11.2 Copy Number Variation on Craniofacial Development
    Yuqi Qiu, Thomas Arbogast, Sandra Martín Lorenzo, Honying Li, Shih C. Tang, Ellen Richardson, Oanh Hong, Shawn Cho, Omar Shanta, Timothy Pang et al. · 2019 · SSRN Electronic Journal
  10. Antipsychotic Agents
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  11. 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)
  12. A 16p11.2 deletion mouse model displays quantitatively and qualitatively different behaviours in sociability and social novelty over short- and long-term observation
    Anna Rusu, Claire Chevalier, Fabrice de Chaumont, Valérie Nalesso, Véronique Brault, Yann Hérault, Elodie Ey · 2022 · Research Square
  13. The gut metabolite indole-3-propionic acid activates ERK1 to restore social function and hippocampal inhibitory synaptic transmission in a 16p11.2 microdeletion mouse model
    Jian Wei Jiang, Jinlong Chang, Dilong Wang, Xiuyan Yang, Zhu Wenhui, Peijia Yao, Youheng Jiang, Kun Song, Shuwen Chang, Xue-Song Zhang et al. · 2023 · Research Square
  14. Microglial cannabinoid receptor type 1 mediates social memory deficits produced by adolescent THC exposure and 16p11.2 duplication
    Yuto Hasegawa, Juhyun Kim, Gianluca Ursini, Yan Jouroukhin, Xiaolei Zhu, Yu Miyahara, Feiyi Xiong, Samskruthi Madireddy, Mizuho Obayashi, Beat Lutz et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  15. Circuit mechanism underlying fragmented sleep and memory deficits in 16p11.2 deletion mouse model of autism
    Shinjae Chung, Ashley Choi, Jennifer Smith, Yingqi Wang, Ray Shin, Bo Won Kim, Alyssa Wiest, Xi Jin, Isabella An, Jiso Hong et al. · 2024 · Research Square
  16. 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)
  17. Loss of SEZ6L2 disrupts synaptic architecture and drives progressive behavioral deficits
    Julia M. Granato, Nina Silver, Alison Hobbins, John Randolph, Angela Stout, Harris A. Gelbard, Jenny M Gunnersen, Samuel Mackenzie, Patricia M. White, Jennetta W. Hammond · 2026 · Brain Behavior and Immunity
  18. Phenotypic and Evolutionary Consequences of Deletion, Duplication, and Triplication at 16p11.2
    Alessandra Suuberg · 2018 · SSRN Electronic Journal
  19. Neural Activity of 16p11.2 CNV Human and Mouse
    Reem Al‐Jawahiri · 2019 · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)
  20. Metabolic effects of the schizophrenia-associated 3q29 deletion are sex-specific and uncoupled from behavioral phenotypes
    Rebecca M. Pollak, Ryan H. Purcell, Timothy P. Rutkowski, Tamika Malone, Kimberly J. Pachura, Gary Jonathan Bassell, Michael P. Epstein, Paul A. Dawson, Matthew Ryan Smith, Dean P. Jones et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  21. Investigation of Genetic and Clinical Heterogeneity in Subtypes of Autism Spectrum Disorder
    Ada J. S. Chan · 2020 · TSpace (University of Toronto)
  22. Animal and Cellular Models of Psychotic Disorders
    Mikhail V. Pletnikov, Guo‐li Ming, Christopher A. Ross · 2017
  23. Changes in social behaviour with alterations of MAPK3 and KCTD13/CUL3 pathways in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders
    Sandra Martín Lorenzo, Maria del Mar Muñiz Moreno, Helin Atas-Özcan, Marion Pellen, Valérie Nalesso, Wolfgang Raffelsberger, Géraldine Prevost, Loïc Lindner, Marie‐Christine Birling, Séverine Ménoret et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  24. Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs
    Xianglong Zhang, Thomas Ward, Louis C. Leung, Ping-Ping Qu, Bo Zhou, Kristin L. Muench, Arineh Khechaduri, Melanie J. Plastini, Carol A. Charlton, Reenal Pattni et al. · 2023 · Research Square
  25. Prediction of transcription factor binding using epigenomics and genome variation data
    Nina Baumgarten · 2023 · Publication Server of Goethe University Frankfurt am Main (Goethe University Frankfurt)
  26. The COL6A5-p.Glu2272* mutation induces chronic itch in mice
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  27. Additional file 5 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  28. Additional file 11 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  29. Additional file 10 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  30. Additional file 8 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  31. Additional file 1 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  32. Additional file 7 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  33. Additional file 2 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  34. Additional file 9 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Xue Yun Zhong, Tyne W. Miller‐Fleming, Dan Zhou, Nancy Jean Cox, Lauren A. Weiss · 2021 · Figshare
  35. Etiology and Translational Research in Neurodevelopmental Disorders
    Fei Li, Mingyu Xu, Juehua Yu, Miao Yan Cao · 2024 · Springer eBooks
  36. 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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  37. 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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  38. Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions
    Samuel J. R. A. Chawner · 2025 · Frontiers in Psychiatry
  39. 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
  40. Additional file 5 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  41. Additional file 13 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  42. Additional file 1 of Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models
    Sandra Martín Lorenzo, Valérie Nalesso, Claire Chevalier, Marie‐Christine Birling, Yann Hérault · 2021 · Figshare
  43. Additional file 7 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  44. Additional file 9 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  45. Additional file 3 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  46. Additional file 2 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  47. Additional file 6 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Zhong, Xue, Tyne W. Miller‐Fleming, Zhou, Dan, Nancy Jean Cox, Weiss, Lauren A. · 2021 · Figshare
  48. Additional file 12 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  49. Additional file 12 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Zhong, Xue, Tyne W. Miller‐Fleming, Zhou, Dan, Nancy Jean Cox, Weiss, Lauren A. · 2021 · Figshare
  50. Additional file 4 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Zhong, Xue, Tyne W. Miller‐Fleming, Zhou, Dan, Nancy Jean Cox, Weiss, Lauren A. · 2021 · Figshare
  51. Additional file 6 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  52. Additional file 4 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  53. Additional file 8 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  54. Additional file 3 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
    Mikhail Vysotskiy, Zhong, Xue, Tyne W. Miller‐Fleming, Zhou, Dan, Nancy Jean Cox, Weiss, Lauren A. · 2021 · Figshare
  55. Additional file 10 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  56. Additional file 1 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2023 · Figshare
  57. Additional file 11 of Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
    Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie‐Christine Fischer, Maxence Milhau, İpek Yalçın et al. · 2024 · Figshare
  58. Approches génétiques et thérapeutiques visant à comprendre et atténuer les conséquences de la délétion et duplication de la région 16p11.2 dans des modèles précliniques
    Sandra Martín Lorenzo · 2019 · theses.fr (ABES)
  59. Etude du rôle de CHD8 dans les troubles gastro-intestinaux associés aux troubles du spectre autistique
    Gaëlle Hayot · 2020 · theses.fr (ABES)
  60. Deciphering the genetic basis of the autism-associated 16p11.2 micro-deletion syndrome and the impact of the Major Vault Protein in association with MAPKinase pathway on brain physiology
    Perrine F. Kretz · 2021 · theses.fr (ABES)
  61. Clinical and Molecular Spectrum of Proximal 16p11.2 BP4–5 Copy Number Variations: Insights From a Pediatric Cohort
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  62. Tbx1 heterozygosity in the oligodendrocyte lineage shifts myelinated axon composition in the mouse fimbria without behavioral impairments
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  63. Developmentally dynamic, non-convergent transcriptomic profiles in CNV models for schizophrenia risk
    Hayley French, Shuyang Yao, Lisa Bast, Amparo Roig Adam, Paul Stümpges, Fatima Memic, Jennifer G. Mullé, Patrick F. Sullivan, Jens Hjerling‐Leffler · 2026 · Molecular Psychiatry
  64. Synaptic and Circuit Mechanisms Shaping Neurodevelopmental and Psychiatric Outcomes Associated with 16p11.2 Copy Number Variation
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  65. 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