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

Strong association of de novo copy number mutations with autism

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Large recurrent microdeletions associated with schizophrenia.

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Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

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Association between Microdeletion and Microduplication at 16p11.2 and Autism

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Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

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A copy number variation morbidity map of developmental delay

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

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Structural Variation in the Human Genome and its Role in Disease

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Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice

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Human-specific gene expansions contribute to brain evolution

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Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies

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Translational Neuroscience Approaches to Understanding Autism

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Bacurd2 is a novel interacting partner to Rnd2 which controls radial migration within the developing mammalian cerebral cortex

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A Rare Duplication on Chromosome 16p11.2 Is Identified in Patients with Psychosis in Alzheimer's Disease

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Zebrafish Models of Rare Hereditary Pediatric Diseases

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Human pluripotent stem cell models of autism spectrum disorder: emerging frontiers, opportunities, and challenges towards neuronal networks in a dish

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Altered synaptic transmission and maturation of hippocampal CA1 neurons in a mouse model of human chr16p11.2 microdeletion

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Expression of Genes in the 16p11.2 Locus during Development of the Human Fetal Cerebral Cortex

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Stage-Related Neurotoxicity of BPA in the Development of Zebrafish Embryos

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The Evolutionary Biology of Human Neurodevelopment

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Autism Spectrum Disorder Pathogenesis—A Cross-Sectional Literature Review Emphasizing Molecular Aspects

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Alphafold Predictions Provide Insights into the Structural Features of the Functional Oligomers of All Members of the KCTD Family

Esposito, L., Balasco, N., & Vitagliano, L. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232113346 · Cited by 20

Structure-based developmental toxicity and ASD-phenotypes of bisphenol A analogues in embryonic zebrafish

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Prevalence of selected genomic deletions and duplications in a F rench– C anadian population‐based sample of newborns

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Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance

Hayot, G., Massonot, M., Keime, C., Faure, E., & Golzio, C. (2022) · Life Science Alliance · doi:10.26508/lsa.202201456 · Cited by 19

Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes

Leone, R., Zuglian, C., Brambilla, R., & Morella, I. (2024) · Frontiers in Pharmacology · doi:10.3389/fphar.2024.1407865 · Cited by 22

The Role of mGlu Receptors in Hippocampal Plasticity Deficits in Neurological and Psychiatric Disorders: Implications for Allosteric Modulators as Novel Therapeutic Strategies

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Zebrafish as a tool to study schizophrenia-associated copy number variants

Campbell, P. D., & Granato, M. (2020) · Disease Models & Mechanisms · doi:10.1242/dmm.043877 · Cited by 19

Genome engineering of isogenic human ES cells to model autism disorders

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Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein

Kretz, P. F., Wagner, C., Mikhaleva, A., Montillot, C., Hugel, S., Morella, I., Kannan, M., Fischer, M., Milhau, M., Yalçın, İ., et al. (2023) · Genome biology · doi:10.1186/s13059-023-03092-8 · Cited by 23

A Scaled Framework for CRISPR Editing of Human Pluripotent Stem Cells to Study Psychiatric Disease

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KCTD1: A novel modulator of adipogenesis through the interaction with the transcription factor AP2α

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Using natural experiments and animal models to study causal hypotheses in relation to child mental health problems

Thapar, A., & Rutter, M. L. (2015) · Wiley eBooks · doi:10.1002/9781118381953.ch12 · Cited by 18

Developmental protein kinase C hyper-activation results in microcephaly and behavioral abnormalities in zebrafish

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Genomic and Reverse Translational Analysis Discloses a Role for Small GTPase RhoA Signaling in the Pathogenesis of Schizophrenia: Rho-Kinase as a Novel Drug Target

Tanaka, R., & Yamada, K. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242115623 · Cited by 16

The pleiotropic spectrum of proximal 16p11.2 CNVs

Auwerx, C., Kutalik, Z., & Reymond, A. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.08.015 · Cited by 19

Prenatal Neuropathologies in Autism Spectrum Disorder and Intellectual Disability: The Gestation of a Comprehensive Zebrafish Model

Kozol, R. A. (2018) · Journal of Developmental Biology · doi:10.3390/jdb6040029 · Cited by 18

Clinical Implications of Chromosome 16 Copy Number Variation

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16p11.2 deletion accelerates subpallial maturation and increases variability in human iPSC-derived ventral telencephalic organoids

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Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment

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Enhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities

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A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

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Cereblon-Based Small-Molecule Compounds to Control Neural Stem Cell Proliferation in Regenerative Medicine

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Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly

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Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders

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KCTD10 is critical for heart and blood vessel development of zebrafish

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Whi2 signals low leucine availability to halt yeast growth and cell death

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Buffering and non-monotonic behavior of gene dosage response curves for human complex traitsPreprint

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A Comprehensive Analysis of the Structural Recognition between KCTD Proteins and Cullin 3

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Diametric gene-dosage effects as windows into neurogenetic architecture

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The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles

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Genes and Small RNA Transcripts Exhibit Dosage-Dependent Expression Pattern in Maize Copy-Number Alterations

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Calpain activity is negatively regulated by a KCTD7–Cullin-3 complex via non-degradative ubiquitination

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Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis

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Control of craniofacial and brain development by Cullin3-RING ubiquitin ligases: Lessons from human disease genetics

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Vocal and physical phenotypes of calsyntenin2 knockout mouse pups model early-life symptoms of the autism spectrum disorder

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New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder

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A critical review of the impact of candidate copy number variants on autism spectrum disorder

Abedini, S. S., Akhavantabasi, S., Liang, Y., Heng, J. I., Alizadehsani, R., Dehzangi, A., Bauer, D. C., & Alinejad‐Rokny, H. (2024) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2024.108509 · Cited by 18

Genome-wide association studies of human adiposity: Zooming in on synapses

Sandholt, C. H., Grarup, N., Pedersen, O. B., & Hansen, T. F. (2015) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2015.09.029 · Cited by 14

Lipid Alterations during Zebrafish Embryogenesis Revealed by Dynamic Mass Spectrometry Profiling with C=C Specificity

Zhao, X., Chen, J., Zhang, W., Yang, C., Ma, X., Zhang, S., & Zhang, X. (2019) · Journal of the American Society for Mass Spectrometry · doi:10.1007/s13361-019-02334-z · Cited by 14

A Candidate-Gene Approach Identifies Novel Associations Between Common Variants in/Near Syndromic Obesity Genes and BMI in Pediatric and Adult European Populations

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Cdc2‐like kinase 2 (Clk2) promotes early neural development in Xenopus embryos

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KCTD15 Protein Expression in Peripheral Blood and Acute Myeloid Leukemia

Smaldone, G., Coppola, L., Incoronato, M., Parasole, R., Ripaldi, M., Vitagliano, L., Mirabelli, P., & Salvatore, M. (2020) · Diagnostics · doi:10.3390/diagnostics10060371 · Cited by 13

Imaging neural circuit pathology of autism spectrum disorders: autism-associated genes, animal models and the application of in vivo two-photon imaging

Terashima, H., Minatohara, K., Maruoka, H., & Okabe, S. (2021) · Microscopy · doi:10.1093/jmicro/dfab039 · Cited by 15

Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function

Seth, A., Rivera, A. M., Chahdi, A., Choi, I., Medina-Martínez, O., Lewis, S., O'Neill, M. A., Ridgeway, A., Moore, J. A., Jorgez, C. J., et al. (2022) · The FASEB Journal · doi:10.1096/fj.202200558r · Cited by 13

Modeling autism spectrum disorders in zebrafish

Dreosti, E., Hoffman, E. J., & Rihel, J. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-817528-6.00026-7 · Cited by 13

Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development

Yusuff, T., Jensen, M., Yennawar, S., Pizzo, L., Karthikeyan, S., Gould, D. J., Sarker, A., Gedvilaite, E., Matsui, Y., Iyer, J. S., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008792 · Cited by 12

Clinical outcomes of fetuses with chromosome 16 short arm copy number variants

Kang, J., Lee, C., Su, Y., Tai, Y., Chen, C., Chen, H., & Lin, S. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2174 · Cited by 11

KCTD5 is endowed with large, functionally relevant, interdomain motions

Barone, D., Balasco, N., & Vitagliano, L. (2015) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2015.1090343 · Cited by 12

KCTD10 regulates brain development by destabilizing brain disorder–associated protein KCTD13

Cheng, J., Wang, Z., Tang, M., Zhang, W., Li, G., Tan, S., Mu, C., Hu, M., Zhang, D., Jia, X., et al. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2315707121 · Cited by 11

Cullin-RING Ubiquitin Ligases in Neurodevelopment and Neurodevelopmental Disorders

Ashitomi, H., Nakagawa, T., Nakagawa, M., & Hosoi, T. (2025) · Biomedicines · doi:10.3390/biomedicines13040810 · Cited by 10

Copy Number Variation in Human Health, Disease and Evolution

Sismani, C., Koufaris, C., & Voskarides, K. (2015) · Springer eBooks · doi:10.1007/978-1-4939-3070-8_6 · Cited by 12

Progressive myoclonic epilepsy-associated gene Kctd7 regulates retinal neurovascular patterning and function

Alevy, J., Burger, C. A., Albrecht, N. E., Jiang, D., & Samuel, M. A. (2019) · Neurochemistry International · doi:10.1016/j.neuint.2019.104486 · Cited by 11

Gene mapping and functional annotation of GWAS of oral ulcers using FUMA software

Jin, X., Wang, Y., Zhang, X., Zhang, W., Wang, H., & Chen, C. (2020) · Scientific Reports · doi:10.1038/s41598-020-68976-2 · Cited by 11

The Structural Versatility of the BTB Domains of KCTD Proteins and Their Recognition of the GABAB Receptor

Balasco, N., Smaldone, G., & Vitagliano, L. (2019) · Biomolecules · doi:10.3390/biom9080323 · Cited by 11

Using rare genetic mutations to revisit structural brain asymmetry

Kopál, J., Kumar, K., Shafighi, K., Saltoun, K., Modenato, C., Moreau, C. A., Huguet, G., Jean‐Louis, M., Martin, C.-O., Saci, Z., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-46784-w · Cited by 10

The dual-specificity protein kinase Clk3 is essential for Xenopus neural development

Virgirinia, R. P., Nakamura, M., Takebayashi‐Suzuki, K., Fatchiyah, F., & Suzuki, A. (2021) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2021.06.005 · Cited by 10

CNV and Structural Variation in Plants: Prospects of NGS Approaches

Francia, E., Pecchioni, N., Policriti, A., & Scalabrin, S. (2015) · Springer eBooks · doi:10.1007/978-3-319-17157-9_13 · Cited by 11

Longitudinal report of child with de novo 16p11.2 triplication

Wallace, A. S., Hudac, C. M., Steinman, K. J., Peterson, J. L., DesChamps, T. D., Duyzend, M. H., Nuttle, X., Eichler, E. E., & Bernier, R. A. (2018) · Clinical Case Reports · doi:10.1002/ccr3.1236 · Cited by 9

A Mini-Review Regarding the Modalities to Study Neurodevelopmental Disorders-Like Impairments in Zebrafish—Focussing on Neurobehavioural and Psychological Responses

Curpăn, A.-Ș., Balmuș, I.-M., Dobrin, R., Ciobica, A. S., Chele, G. E., Gorgan, L., & Boloș, A. (2022) · Brain Sciences · doi:10.3390/brainsci12091147 · Cited by 9

Zebrafish in neurodevelopmental disorders studies: Genetic models and pathological involvement of microglia

Nia, F. H., & Wittamer, V. (2025) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.16317 · Cited by 9

The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability

Gimeno-Ferrer, F., Albuquerque, D., Luján, C. G., Benito, G. M., Banzas, C. T., Repáraz-Andrade, A., Cogollos, V. B., Pérez-Gramunt, M. A., Gómez, E. G., Quintela, I., et al. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0545-5 · Cited by 9

Genome and Transcriptome Sequencing of casper and roy Zebrafish Mutants Provides Novel Genetic Clues for Iridophore Loss

Bian, C., Chen, W., Ruan, Z., Hu, Z., Huang, Y., Lv, Y., Xu, T., Li, J., Shi, Q., & Ge, W. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21072385 · Cited by 9

Identification of Gingivitis-Related Genes Across Human Tissues Based on the Summary Mendelian Randomization

Zhang, J., Sun, M., Zhao, Y., Geng, G., & Hu, Y. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.624766 · Cited by 9

The Oncosuppressive Properties of KCTD1: Its Role in Cell Growth and Mobility

Smaldone, G., Pecoraro, G., Pane, K., Franzese, M., Ruggiero, A., Vitagliano, L., & Salvatore, M. (2023) · Biology · doi:10.3390/biology12030481 · Cited by 9

Brain Copy Number Variants and Neuropsychiatric Traits

Lupski, J. R. (2012) · Biological Psychiatry · doi:10.1016/j.biopsych.2012.08.007 · Cited by 9

Autism Spectrum Disorder

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