Neurogenetics: Advancing the “Next-Generation” of Brain Research
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There can be little doubt that genetics has transformed our understanding of mechanisms mediating brain disorders. The last two decades have brought tremendous progress in terms of accurate molecular diagnoses and knowledge of the genes and pathways that are involved in a large number of neurological and psychiatric disorders. Likewise, new methods and analytical approaches, including genome array studies and "next-generation" sequencing technologies, are bringing us deeper insights into the subtle complexities of the genetic architecture that determines our risks for these disorders. As we now seek to translate these discoveries back to clinical applications, a major challenge for the field will be in bridging the gap between genes and biology. In this Overview of Neuron's special review issue on neurogenetics, we reflect on progress made over the last two decades and highlight the challenges as well as the exciting opportunities for the future.
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The study used mice with a hybrid genetic background to avoid possible contributions of homozygous genetic variants on a pure inbred background.
“We used mice with a hybrid genetic background to avoid the potential contribution to behavioral phenotypes of homozygous genetic variants on a pure inbred background7,16.”
From Shank3 mutant mice display autistic-like behaviours and striatal dysfunction (2011) · cites this paper as [16]
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Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Peça, J., Feliciano, C., Ting, J. T., Wang, W., Wells, M. F., Venkatraman, T. N., Lascola, C. D., Fu, Z., & Feng, G. (2011) · Nature · doi:10.1038/nature09965 · Cited by 1,570 · see citing works
Sequencing technologies and genome sequencing
Pareek, C. S., Smoczynski, R., & Tretyn, A. (2011) · Journal of Applied Genetics · doi:10.1007/s13353-011-0057-x · Cited by 868 · see citing works
Modular Genetic Control of Sexually Dimorphic Behaviors
Xu, X., Coats, J., Yang, C. F., Wang, A., Ahmed, O. M., Alvarado, M., Izumi, T., & Shah, N. M. (2012) · Cell · doi:10.1016/j.cell.2011.12.018 · Cited by 266 · see citing works
Wang, N., Gray, M., Lu, X., Cantle, J. P., Holley, S. M., Greiner, E. R., Gu, X., Shirasaki, D., Cepeda, C., Li, Y., et al. (2014) · Nature Medicine · doi:10.1038/nm.3514 · Cited by 201 · see citing works
Genetics of recessive cognitive disorders
Musante, L., & Ropers, H. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.09.008 · Cited by 133 · see citing works
Single Cell Genomics of the Brain: Focus on Neuronal Diversity and Neuropsychiatric Diseases
Iourov, I. Y., Vorsanova, S. G., & Yurov, Y. B. (2012) · Current Genomics · doi:10.2174/138920212802510439 · Cited by 112 · see citing works
Drosophila as a Model to Study Mitochondrial Dysfunction in Parkinson's DiseasePreprint
Guo, M. (2012) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a009944 · Cited by 106 · see citing works
Genetic Basis of Intellectual Disability
Ellison, J. W., Rosenfeld, J. A., & Shaffer, L. G. (2012) · Annual Review of Medicine · doi:10.1146/annurev-med-042711-140053 · Cited by 103 · see citing works
Ramos‐Cejudo, J., Gutiérrez‐Fernández, M., Rodríguez‐Frutos, B., Alcaide, M., Sánchez‐Cabo, F., Dopazo, A., & Díez‐Tejedor, E. (2012) · PLoS ONE · doi:10.1371/journal.pone.0052121 · Cited by 71 · see citing works
Oxidative stress in Rett syndrome: natural history, genotype, and variants
Leoncini, S., De Felice, C., Signorini, C., Pecorelli, A., Durand, T., Valacchi, G., Ciccoli, L., & Hayek, J. (2011) · Redox Report · doi:10.1179/1351000211y.0000000004 · Cited by 69 · see citing works
Lee, C. Y. D., Cantle, J. P., & Yang, X. W. (2013) · FEBS Journal · doi:10.1111/febs.12418 · Cited by 56 · see citing works
Fragile X syndrome: From targets to treatments
Wijetunge, L. S., Chattarji, S., Wyllie, D. J. A., & Kind, P. C. (2012) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.11.028 · Cited by 49 · see citing works
Soler‐Alfonso, C., Carvalho, C. M. B., Ge, J., Roney, E. K., Bader, P. I., Kołodziejska, K. E., Miller, R. M., Lupski, J. R., Stankiewicz, P., Cheung, S. W., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.302 · Cited by 47 · see citing works
Sleep as a translationally-relevant endpoint in studies of autism spectrum disorder (ASD)
Missig, G., McDougle, C. J., & Carlezon, W. A. (2019) · Neuropsychopharmacology · doi:10.1038/s41386-019-0409-5 · Cited by 45 · see citing works
Oh, J.-E., Chambwe, N., Klein, S., Gal, J., Andrews, S., Gleason, G., Shaknovich, R., Melnick, A., Campagne, F., & Toth, M. (2013) · Translational Psychiatry · doi:10.1038/tp.2012.130 · Cited by 43 · see citing works
Mitchell, E. J., Klein, S. L., Argyropoulos, K. V., Sharma, A., Chan, R., Toth, J. G., Barboza, L., Bavley, C. C., Bortolozzi, A. A., Chen, Q., et al. (2016) · Nature Communications · doi:10.1038/ncomms11492 · Cited by 38 · see citing works
Gene-Targeting Therapeutics for Neurological Disease: Lessons Learned from Spinal Muscular Atrophy
Ravi, B., Chan-Cortés, M. H., & Sumner, C. J. (2021) · Annual Review of Medicine · doi:10.1146/annurev-med-070119-115459 · Cited by 37 · see citing works
Yang, X. W., & Lu, X.-H. (2011) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32834451fb · Cited by 36 · see citing works
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM 1 -gangliosidosis
Pierson, T. M., Adams, D. R., Markello, T. C., Golas, G. A., Yang, S., Sincan, M., Simeonov, D. R., Fajardo, K. V. F., Hansen, N. F., Cherukuri, P. F., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e31825f047a · Cited by 36 · see citing works
Hiroi, N., & Yamauchi, T. (2019) · The International Journal of Neuropsychopharmacology · doi:10.1093/ijnp/pyz026 · Cited by 31 · see citing works
SHC2 gene copy number in multiple system atrophy (MSA)
Ferguson, M. C., Garland, E. M., Hedges, L. K., Womack, B., Hamid, R., Phillips, J. A., Shibao, C. A., Raj, S. R., Biaggioni, I., & Robertson, D. (2013) · Clinical Autonomic Research · doi:10.1007/s10286-013-0216-8 · Cited by 31 · see citing works
Wu, S., Tan, K. J., Govindarajan, L. N., Stewart, J. C., Gu, L., Ho, J., Katarya, M., Wong, B. H., Tan, E., Li, D., et al. (2019) · PLoS Biology · doi:10.1371/journal.pbio.3000346 · Cited by 25 · see citing works
Advances in the discovery and analyses of human tandem repeats
Chaisson, M., Sulovari, A., Valdmanis, P. N., Miller, D. E., & Eichler, E. E. (2023) · Emerging Topics in Life Sciences · doi:10.1042/etls20230074 · Cited by 27 · see citing works
Groisman, I. J., Mathieu, G., & Godard, B. (2012) · BMC Medical Ethics · doi:10.1186/1472-6939-13-36 · Cited by 16 · see citing works
Mathieu, G., Groisman, I. J., & Godard, B. (2013) · The International Journal of Neuropsychopharmacology · doi:10.1017/s1461145713000527 · Cited by 13 · see citing works
Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain
Villela, D., Suemoto, C. K., Leite, R. E. P., Pasqualucci, C. A., Grinberg, L. T., Pearson, P. L., & Rosenberg, C. (2018) · Neural Plasticity · doi:10.1155/2018/2406170 · Cited by 12 · see citing works
Brain Neurogenetics: Human Sleep and Longevity
Volobuev, A. N., Romanchuk, N., & Bulgakova, S. V. (2021) · Bulletin of Science and Practice · doi:10.33619/2414-2948/64/12 · Cited by 9 · see citing works
Doğan, M., Teralı, K., Eröz, R., Demirci, H., & Kocabay, K. (2021) · Molecular Biology Reports · doi:10.1007/s11033-020-06097-9 · Cited by 8 · see citing works
Nutrient-dependent/pheromone-controlled adaptive evolution: a model
Kohl, J. (2013) · Socioaffective Neuroscience & Psychology · doi:10.3402/snp.v3i0.20553 · Cited by 7 · see citing works
Khan, S., Umair, M., Abbas, S., Ali, U., Zaman, G., Ansar, M., Wang, R., Zhang, X., Houlden, H., Harlalka, G. V., et al. (2023) · The Journal of Gene Medicine · doi:10.1002/jgm.3513 · Cited by 6 · see citing works
Education of a Child Neurologist: Developmental Neuroscience Relevant to Child Neurology
Johnston, M. V. (2011) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2011.06.009 · Cited by 6 · see citing works
Novel Next-Generation Sequencing Applications
El‐Metwally, S., Ouda, O. M., & Helmy, M. (2014) · SpringerBriefs in systems biology · doi:10.1007/978-1-4939-0715-1_7 · Cited by 6 · see citing works
Barseghyan, H., Pang, A. W. C., Zhang, Y., Sahajpal, N., Delpu, Y., Lai, C.-Y. J., Lee, J., Tessereau, C., Oldakowski, M., Kolhe, R. B., et al. (2022) · Neuromethods · doi:10.1007/978-1-0716-2357-2_9 · Cited by 3 · see citing works
Implementing Genomics in the Care of Neuropsychiatric Patients in Latin America
Forero, D. A., Urriago, H., López‐León, S., González‐Giraldo, Y., de Miranda, D. M., & Jovel, C. A. E. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-811531-2.00005-9 · Cited by 3 · see citing works
Fathy, M., Seif, A. I., & El-Kholy, S. E. (2025) · Journal of Experimental Zoology Part A Ecological and Integrative Physiology · doi:10.1002/jez.70042 · Cited by 2 · see citing works
Intersectional strategies for cell type specific expression and transsynaptic labeling
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A New Genetic Mechanism for Autism
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Taylor, A. M., Levy, R. J., Dhamija, R., & Sen, K. (2025) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2025.04.013 · Cited by 1 · see citing works
Neurogenomics challenges and opportunities in Morocco
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GABAergic neuronal dysfunction underlies tremor in spinocerebellar ataxia 3
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Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
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Childhood disabilities: reappraisal in the high‐tech era
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Nutrient-dependent/pheromone-controlled adaptive evolution: a model
Kohl, J. V. (2013) · Socioaffective Neuroscience & Psychology · doi:10.3402/snp.v2i0.20553
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- Authors
- Zoghbi, H. Y., & Warren, S. T.
- Affiliations
- Howard Hughes Medical Institute (US)
- Emory University (US)
- Corresponding author
- Zoghbi, Huda Y.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2010-10
- Volume
- 68
- Issue
- 2
- Pages
- 165-173
- ISSN
- 0896-6273 (ISSN-L)
- PMC
- PMC2982747
- OpenAlex
- W2128263872
- Cited by
- 48
- References
- 91
- Citations by year
- 2025: 4 · 2023: 2 · 2022: 1 · 2021: 3 · 2020: 1 · 2019: 3 · 2018: 3 · 2016: 1 · 2014: 4 · 2013: 8 · 2012: 9
- FWCI
- 4.49
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institute of Neurological Disorders and Stroke (R01NS027699)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- neurogenetics, brain disorders, genetic architecture, neurological disorders, mental illness, molecular diagnosis, genome-wide association study, next-generation sequencing, clinical translation
- MeSH terms
- Animals, Mental Disorders, Brain, Humans, Mutation, Neurosciences, Phenotype, Genome, Models, Animal, Biomedical Research
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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