KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Golzio, Christelle, Willer, Jason, Talkowski, Michael E., Oh, Edwin C., Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F., Kamiya, Atsushi, Beckmann, Jacques S., Katsanis, Nicholas·2012·Nature
DOI 10.1038/nature11091

Cited by (424)

Items 401–424 of 424

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
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    Camille Berthelot · 2012 · theses.fr (ABES)
  10. 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)
  11. Etude du rôle de la kinésine KIF21B au cours du développement cortical
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    Gaëlle Hayot · 2020 · theses.fr (ABES)
  13. Etude moléculaire et fonctionnelle du gène PTCHD1 impliqué dans les troubles neurodéveloppementaux
    Judith Halewa · 2021 · theses.fr (ABES)
  14. 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)
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    José Rivera Alvarez · 2022 · theses.fr (ABES)
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  17. Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish
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  18. 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)
  19. Clinical and Molecular Spectrum of Proximal 16p11.2 BP4–5 Copy Number Variations: Insights From a Pediatric Cohort
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  20. Synaptic and Circuit Mechanisms Shaping Neurodevelopmental and Psychiatric Outcomes Associated with 16p11.2 Copy Number Variation
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    Nicole Balasco, Luciana Esposito, Simone Di Micco, Luigi Vitagliano · 2026 · International Journal of Molecular Sciences
  22. Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies
    Qiu Guo, Li Zhang, Yi Zuo, Jiale Mei, Chengcheng Zhang · 2026 · Psychiatric Genetics
  23. 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
  24. Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders
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