Microduplications of 16p11.2 are associated with schizophrenia

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1. Changes in social behavior with MAPK2 and KCTD13/CUL3 pathways alterations in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders
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4. Beyond the first episode: Candidate factors for a risk prediction model of schizophrenia
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5. Rare structural genetic variation in human prion diseases
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6. Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder
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7. Unravelling the genetics of autism spectrum disorders
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8. Genetics of Bipolar Disorder and Schizophrenia
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9. A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits
   Omar Shanta, Marieke Klein, Molly Sacks, Jeffrey R. MacDonald, Adam X. Maihofer, Mohammad Mehdi Ahangari, Worrawat Engchuan, Bhooma Thiruvahindrapuram, James Guevara, Oanh Hong et al. · 2025 · medRxiv
10. Methylome-wide association study of different responses to risperidone in schizophrenia
    Huihui Du, Jingsong Ma, Wei Zhou, Mo Li, Cong Huai, Lu Shen, Hao Wu, Xianglong Zhao, Na Zhang, Songyin Gao et al. · 2022 · Frontiers in Pharmacology
11. Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser ( MRKH ) syndrome patients in Chinese Han population
    Kaizhen Su, Han Liu, Xiaoqun Ye, Hangmei Jin, Zhenwei Xie, Chunbo Yang, Daizhan Zhou, Hefeng Huang, Yanting Wu · 2023 · Molecular Genetics & Genomic Medicine
12. Identification and functional analysis of circulating extrachromosomal circular DNA in schizophrenia implicate its negative effect on the disorder
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13. TAOK2 drives opposing cilia length deficits in 16p11.2 deletion and duplication carriers
    Sujin Byeon, Amy Ferreccio, Moira Cornell, Juan A. Osés-Prieto, Aditi Deshpande, Siri Manvi, Alison Blencowe, Lauren A. Weiss, Alma L. Burlingame, Smita Yadav · 2025 · Stem Cell Reports
14. Effects of heterozygous deletion of autism-related gene Cullin-3 in mice
    Qiang‐qiang Xia, Angela K. Walker, Chenghui Song, Jing Wang, Anju Singh, James A. Mobley, Zhong Xuan, Jeffrey D. Singer, Craig M. Powell · 2023 · PLoS ONE
15. Neurodevelopmental Disorders: Autism Spectrum Disorder
    Robyn Pauline Thom, Nora D.B. Friedman, Ramzi H. Nasir, Laura C. Politte, Lisa A. Nowinski, Christopher J. McDougle · 2024 · Springer eBooks
16. The Genetics of Schizophrenia
    James N. Samson, Albert H.C. Wong · 2015 · Royal Society of Chemistry eBooks
17. Association of schizophrenia with the phenylthiocarbamide taste receptor haplotype on chromosome 7q
    Paul J. Moberg, Mingyao Li, Stephen Kanes, Raquel E. Gur, Vidyulata J. Kamath, Bruce I. Turetsky · 2012 · Psychiatric Genetics
18. Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome
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19. Research Advances in the Molecular Functions and Relevant Diseases of TAOKs, Novel STE20 Kinase Family Members
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20. Higher autism in children of women with psychiatric diagnoses
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21. 16p11.2 Microduplication and associated symptoms: A case study
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22. Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders
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24. Genetic Associations in Schizophrenia
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27. Understanding the Emergence of Schizophrenia in the Light of Human Evolution: New Perspectives in Genetics
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28. Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs
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29. Genome-wide study of copy number variation implicates multiple novel loci for schizophrenia risk in Han Chinese family trios
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30. Reduced Visual Evoked Potential Amplitude in Autistic Children with Co-Occurring Features of Attention-Deficit/Hyperactivity Disorder
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31. Progress and Implications from Genetic Studies of Bipolar Disorder
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33. Génétique des schizophrénies : mise en perspective des schizophrénies à début précoce et autres pathologies du développement
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35. Comprehensive Analyses of Tissue-Specific Networks with Implications to Psychiatric Diseases
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36. Cognitive and structural neuroimaging characteristics of schizophrenia patients with large, rare copy number deletions
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37. Study of the association between Schizophrenia and microduplication at the 16p11.2 locus in the Han Chinese population
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38. Genetics of Psychiatric Disorders: Advances in Genetic Epidemiology and Molecular Genetics
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39. Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus
    Katrin Männik, Thomas Arbogast, Maarja Lepamets, Kaido Lepik, Anna Pellaz, Herta Ademi, Zachary A Kupchinsky, Jacob Ellegood, Catia Attanasio, Andrea Messina et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
40. Shared Genetic Networks in Schizophrenia and Bipolar Disorder: Hippocampal Volume-Mediated Neurobiological Mechanisms
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41. Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant
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42. TAOK2 controls synaptic plasticity and anxiety via ERK and calcium signaling
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43. Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain‐related functional pathways
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44. Autism risk gene Cul3 alters neuronal morphology via caspase-3 activity in mouse hippocampal neurons
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45. Genetic pathways to autism spectrum disorders
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46. The Paradox of Copy Number Variants in ASD and Schizophrenia: False Facts or False Hypotheses?
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47. Copy Number Variations Analysis Identifies QPRT as a Candidate Gene Associated With Susceptibility for Solitary Functioning Kidney
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48. 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
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49. Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion
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59. Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution
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61. Zebrafish: A Model System to Study the Architecture of Human Genetic Disease
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62. Identification of 16p11.2 deletion syndrome on a child inpatient psychiatric unit: A case report and call for inpatient genetic testing
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66. DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
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67. Specific Chromosome Disorders in Newborns
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70. Supplementary online material
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72. Prefrontal parvalbumin neurons as a target for enhancing cognition in non-pathological and 22q11.2 microdeletion syndrome mice
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77. Mice with 16p11.2 Deletion and Duplication Show Alterations in Biological Processes Associated with White Matter
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78. Successful treatment of tuberous sclerosis with psychosis and obsessive–compulsive disorder: A case report
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79. Clinical and Biological Overlap between Schizophrenia, Autism Spectrum Disorder, and Trauma and Stress-Related Disorders: The Three-Tree Model of SCZ-ASD-TSRD
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80. βIV spectrin abundancy, cellular distribution and sensitivity to AKT/GSK3 regulation in schizophrenia
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81. An Evolutionary Biology Approach to Understanding Neurological Disorders
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83. VTET: a variable threshold exact test for identifying disease-associated copy number variations enriched in short genomic regions
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84. Case Report: The Association Between Chromosomal Anomalies and Cluster A Personality Disorders: The Case of Two Siblings With 16p11.2 Deletion and a Review of the Literature
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88. Differential links in 16p11.2 deletion carriers reveal aberrant connections between large-scale networks
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89. Convergence and divergence of molecular phenotypes in iPSC-derived models of 16p11.2 and 22q11.2 reciprocal copy number variants
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92. Cerebellar structure and function abnormalities in 16p11.2 microduplication mice
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