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Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
Open accessAbstract
Recurrent copy number variations (CNVs) of human 16p11.2 have been associated with a variety of developmental/neurocognitive syndromes. In particular, deletion of 16p11.2 is found in patients with autism, developmental delay, and obesity. Patients with deletions or duplications have a wide range of clinical features, and siblings carrying the same deletion often have diverse symptoms. To study the consequence of 16p11.2 CNVs in a systematic manner, we used chromosome engineering to generate mice harboring deletion of the chromosomal region corresponding to 16p11.2, as well as mice harboring the reciprocal duplication. These 16p11.2 CNV models have dosage-dependent changes in gene expression, viability, brain architecture, and behavior. For each phenotype, the consequence of the deletion is more severe than that of the duplication. Of particular note is that half of the 16p11.2 deletion mice die postnatally; those that survive to adulthood are healthy and fertile, but have alterations in the hypothalamus and exhibit a “behavior trap” phenotype—a specific behavior characteristic of rodents with lateral hypothalamic and nigrostriatal lesions. These findings indicate that 16p11.2 CNVs cause brain and behavioral anomalies, providing insight into human neurodevelopmental disorders.
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In the citing paper
“The human 16p11.2 gene locus (chromosome 16, position 11.2) is a ~500–600 kb region containing 27–29 genes [4–7] located on the proximal short arm of chromosome 16 [8].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“However, 16p11.2+/− models show reduced body size/weight [4, 5, 60, 61, 63], in contrast to the human obesity phenotype.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“The 16p11.2dp/+ mice (Mills) exhibit social and cognitive deficits [72, 73] along with increased repetitive self-grooming [5, 72], with the absence of motor coordination deficits [72].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“16p11.2dp/+ mice also exhibit hypolocomotion [5, 72, 73], in direct contrast to 16p11.2+/− animals.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“Hyperlocomotion is also broadly reported in 16p11.2+/− mice [4, 5, 59, 61, 63, 64, 70], another behavioral feature that does not coincide directly with human symptomology.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“Increased volumes of several brain areas, including the hypothalamus, midbrain, cerebellar cortex, striatum, nucleus accumbens and globus pallidus, are observed in 16p11.2+/− mice (Mills, Dolmetsch) [4, 5, 96]”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“No significant differences were found between 16p11.2dp/+ (Mills) and WT mice, though trends toward reduced volume were observed in several regions [5].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“For example reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, the deletion associated with brain overgrowth and the duplication associated with reduced brain volume (Horev et al., 2011; McCarthy et al., 2009; Shinawi et al., 2010), and structural alterations appear to be widely distributed across multiple brain regions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Horev et al., 2011
In the citing paper
“Behavioral abnormalities associated with CNVs have been confirmed in animal models (Horev et al., 2011; Nakatani et al., 2009; Peca et al., 2011; Tabuchi et al., 2007; Tamada et al., 2010).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Horev et al., 2011
In the citing paper
“Mice with reciprocal deletions and duplication of 16p11.2 have contrasting effects on mobility, grooming and repetitive behaviors (Horev et al., 2011).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Horev et al., 2011
In the citing paper
“For example reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, the deletion associated with brain overgrowth and the duplication associated with reduced brain volume (Horev et al., 2011; McCarthy et al., 2009; Shinawi et al., 2010), and structural alterations appear to be widely distributed across multiple brain regions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Horev et al., 2011
In the citing paper
“Relative volumetric changes in mice modeling the 16p11.2 duplication (dp/+) are in the opposite direction to those observed in the df/+ mice [159].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [159]
In the citing paper
“When compared to WT controls, mice that model the deletion (df/+) have increased relative volume as detected by MRI in the basal forebrain, superior colliculus, fornix, hypothalamus, mammillothalamic tract, midbrain and periaqueductal grey [159].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [159]
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Cites
Controlling the false discovery rate in behavior genetics research
Benjamini, Y., Drai, D., Elmer, G., Kafkafi, N., & Golani, I. (2001) · Behavioural Brain Research · doi:10.1016/s0166-4328(01)00297-2 · Cited by 4,146
Stereotaxic mapping of the monoamine pathways in the rat brain
Ungerstedt, U. (1971) · Acta Physiologica Scandinavica · doi:10.1111/j.1365-201x.1971.tb10998.x · Cited by 3,819
Adaptive linear step-up procedures that control the false discovery rate
Benjamini, Y., Krieger, A. M., & Yekutieli, D. (2006) · Biometrika · doi:10.1093/biomet/93.3.491 · Cited by 3,228
Self-citationStrong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Self-citationMcDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
The Epidemiology of Autism Spectrum Disorders
Newschaffer, C. J., Croen, L. A., Daniels, J., Giarelli, E., Grether, J. K., Levy, S. E., Mandell, D. S., Miller, L. A., Pinto-Martin, J., Reaven, J., et al. (2007) · Annual Review of Public Health · doi:10.1146/annurev.publhealth.28.021406.144007 · Cited by 1,228
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Kabitzke, P., Morales, D. V., He, D., Cox, K., Sutphen, J. C., Thiede, L., Sabath, E. V., Hanania, T., Biemans, B., & Brunner, D. (2020) · Genes Brain & Behavior · doi:10.1111/gbb.12676 · Cited by 10
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Ranjan, J., & Bhattacharya, A. (2025) · Cells · doi:10.3390/cells14120908 · Cited by 10
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Smith, D. G., & Ehlers, M. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2012.03.004 · Cited by 10
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Hirjak, D., Northoff, G., Thomann, P. A., Kubera, K. M., & Wolf, R. C. (2017) · Der Nervenarzt · doi:10.1007/s00115-017-0434-8 · Cited by 9
Inhibition of histone deacetylase 5 ameliorates abnormalities in 16p11.2 duplication mouse model
Rein, B. A., Conrow‐Graham, M., Frazier, A., Cao, Q., & Yan, Z. (2021) · Neuropharmacology · doi:10.1016/j.neuropharm.2021.108893 · Cited by 11
Teles, N. O., de Stefano, M. C., Gallagher, L., Rakić, S., Jorge, P., Čuturilo, G., Markovska-Simoska, S., Borg, I., Wolstencroft, J., Tümer, Z., et al. (2020) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph17249253 · Cited by 11
Zhang, F., Yang, X., Jiang, Y., Mao, X., Liu, H., Yang, Y., Chen, J., Chen, Z., Li, H., Zhang, X., et al. (2024) · Frontiers in Microbiology · doi:10.3389/fmicb.2024.1331130 · Cited by 9
Dawes, P., Murray, L. F., Olson, M. N., Barton, N., Smullen, M., Suresh, M., Yan, G., Zhang, Y., Fernandez-Fontaine, A., English, J., et al. (2023) · Human Genetics · doi:10.1007/s00439-023-02534-4 · Cited by 8
Shen, J., Lincoln, S. A., & Miller, D. T. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0047-5 · Cited by 9
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Onaivi, E. S., Ishiguro, H., Sgro, S., & Leonard, C. M. (2013) · Journal of Drug and Alcohol Research · doi:10.4303/jdar/235714 · Cited by 9
Genetic Mechanisms Emerging from Mouse Models of CNV-Associated Neuropsychiatric Disorders
Nishi, A., & Hiroi, N. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-801829-3.00030-6 · Cited by 9
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Sheppard, K., Gardin, J., Sabnis, G. S., Peer, A., Darrell, M., Deats, S., Geuther, B. Q., Lutz, C. M., & Kumar, V. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.12.29.424780 · Cited by 9
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Wakatsuki, S., & Araki, T. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.748721 · Cited by 10
Malijauskaite, S., Sauer, A. K., Hickey, S., Franzoni, M., Grabrucker, A. M., & McGourty, K. (2022) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-022-04617-3 · Cited by 8
Yang, Y., Booker, S. A., Clegg, J. M., Urzainqui, I. Q., Sumera, A., Kozić, Z., Dando, O., Lorenzo, S. M., Hérault, Y., Kind, P. C., et al. (2023) · BMC Neuroscience · doi:10.1186/s12868-022-00771-3 · Cited by 9
Rusu, A., Chevalier, C., de Chaumont, F., Nalesso, V., Brault, V., Hérault, Y., & Ey, E. (2023) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2023.1294558 · Cited by 14
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Petrinovic, M. M., & Künnecke, B. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3200-z · Cited by 8
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Lorenzo, S. M., Moreno, M. D. M. M., Atas-Özcan, H., Pellen, M., Nalesso, V., Raffelsberger, W., Prevost, G., Lindner, L., Birling, M., Ménoret, S., et al. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1148683 · Cited by 9
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Sultana, R., Ghandi, T., Davila, A. M., Lee, C. C., & Ogundele, O. M. (2018) · ASN NEURO · doi:10.1177/1759091418817641 · Cited by 6
Onaivi, E. S., Ishiguro, H., & Liu, Q. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-417041-4.00018-7 · Cited by 6
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Qiu, Y., Arbogast, T., Lorenzo, S. M., Li, H., Tang, S. C., Richardson, E., Hong, O., Cho, S., Shanta, O., Pang, T., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/540732 · Cited by 4
Männik, K., Arbogast, T., Lepamets, M., Lepik, K., Pellaz, A., Ademi, H., Kupchinsky, Z. A., Ellegood, J., Attanasio, C., Messina, A., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/716415 · Cited by 5
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Adi, A. H., TAWIL, B., ALDOSARI, M., Shinwari, J., Nester, M. J., Aldhalaan, H., Al-Shamrani, H., GHANNAM, M., Meyer, B. F., & Tassan, N. A. A. (2015) · Molecular Medicine Reports · doi:10.3892/mmr.2015.3663 · Cited by 3
Yeh, E., & Weiss, L. A. (2016) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2016.10.007 · Cited by 4
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Lepanto, P., Zolessi, F. R., & Badano, J. L. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-816573-7.00005-5 · Cited by 3
Turkalj, L., Mehta, M., Matteson, P. G., Prem, S., Williams, M., Connacher, R., DiCicco-Bloom, E. M., & Millonig, J. H. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-45493-7_4 · Cited by 3
Xu, F., & Li, P. (2013) · InTech eBooks · doi:10.5772/55689 · Cited by 4
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Wurst, W. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006013 · Cited by 3
Bar, H., & Bang, S. (2021) · PLoS ONE · doi:10.1371/journal.pone.0246945 · Cited by 3
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Pavlovic, G., Brault, V., Sorg, T., & Hérault, Y. (2014) · Methods and principles in medicinal chemistry · doi:10.1002/9783527679348.ch06 · Cited by 3
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Ouellette, J., Warsi, S., Romero, P., Khare, P., Naz, S., Aubert-Tandon, L., Andrade, M. F., Pileggi, C. A., Yandiev, S., Raman‐Nair, J., et al. (2026) · Neuron · doi:10.1016/j.neuron.2026.09.009 · Cited by 2
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Kaname, T. (2011) · Journal of Human Genetics · doi:10.1038/jhg.2011.140 · Cited by 2
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Heckenast, J. R., Wilkinson, L. S., & Jones, M. W. (2015) · Advances in genetics · doi:10.1016/bs.adgen.2015.09.001 · Cited by 2
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Gropman, A. L. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-417114-5.00019-x · Cited by 2
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Dey, S., Mondal, P., Mandal, S., Sasmal, S., Chakraborty, N., & Das, A. (2024) · Journal of Visualized Experiments · doi:10.3791/66649 · Cited by 2
Rajkumar, S., Bearden, C. E., Sebat, J. L., & Iakoucheva, L. M. (2026) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2026.102441 · Cited by 1
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Hayes, C., Halverson, H. E., Keeran, K., Tison, K., Jacobo, K., Karki, A., Herring, I., Tunuguntla, S. N. S., Pace, M., Doan, B., et al. (2026) · Brain Communications · doi:10.1093/braincomms/fcag156 · Cited by 2
Autism Spectrum Disorder: Integrating Genetic and Environmental Risk
Kamijo, S., Miwa, H., & Ikeda, K. (2026) · Cells · doi:10.3390/cells15110985 · Cited by 2
A functional role for structural variation in metabolism
Lacaria, M., Gu, W., & Lupski, J. R. (2012) · Adipocyte · doi:10.4161/adip.22031 · Cited by 2
As Perturbações do Espectro do Autismo – Avanços da Biologia Molecular
Ribeiro, I. P., Freitas, M. M., & Teles, N. O. (2017) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.25753/birthgrowthmj.v22.i1.12894 · Cited by 1
Epigenetics and pervasive developmental disorders
Gropman, A. L. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823577-5.00011-8 · Cited by 1
Rodent Models for ASD Biomarker Development
Lee, H. H. C., & Şahin, M. (2024) · Advances in neurobiology · doi:10.1007/978-3-031-69491-2_8 · Cited by 2
Social Endophenotypes in Mouse Models of Psychiatric Disease
Pisansky, M. T., Gottesman, I. I., & Gewirtz, J. C. (2016) · Springer eBooks · doi:10.1007/978-1-4939-3777-6_8 · Cited by 1
Oligogenic Effects of 16p11.2 Copy Number Variation on Craniofacial DevelopmentPreprint
Qiu, Y., Arbogast, T., Lorenzo, S. M., Li, H., Tang, S. C., Richardson, E., Hong, O., Cho, S., Shanta, O., Pang, T., et al. (2019) · SSRN Electronic Journal · doi:10.2139/ssrn.3325030 · Cited by 1
Jiang, J. W., Chang, J., Wang, D., Yang, X., Wenhui, Z., Yao, P., Jiang, Y., Song, K., Chang, S., Zhang, X.-S., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-2774761/v1 · Cited by 1
Wells, M. F., Guss, E. J., Zhou, H., Sun, B. Q., Martínez, H., The NYSCF Global Stem Cell Array Team, Akopian, V., Noggle, S., Paull, D. J., Moore, J. C., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.07.07.548182 · Cited by 1
Hasegawa, Y., Kim, J., Ursini, G., Jouroukhin, Y., Zhu, X., Miyahara, Y., Xiong, F., Madireddy, S., Obayashi, M., Lutz, B., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.07.24.550212 · Cited by 1
Chung, S., Choi, A., Smith, J., Wang, Y., Shin, R., Kim, B. W., Wiest, A., Jin, X., An, I., Hong, J., et al. (2024) · Research Square · doi:10.21203/rs.3.rs-3877710/v1 · Cited by 1
Loss of SEZ6L2 disrupts synaptic architecture and drives progressive behavioral deficits
Granato, J. M., Silver, N., Hobbins, A., Randolph, J., Stout, A., Gelbard, H. A., Gunnersen, J. M., Mackenzie, S., White, P. M., & Hammond, J. W. (2026) · Brain Behavior and Immunity · doi:10.64898/2025.12.31.697214 · Cited by 2
Advances in Autism Research – The Genomic Basis of ASD
Lacaria, M., & James, R. (2013) · InTech eBooks · doi:10.5772/53689
Gomez‐Mancilla, B. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004017
Mayes, A. (2013) · Swinburne figshare (Swinburne University of Technology) · doi:10.25916/sut.26257748
Converging biochemical pathways in psychiatric disorders
Soda, T. (2012)
Genetic Risk Factors Link Autism to Many Other Disorders
Waterhouse, L. H. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-415961-7.00004-6 · Cited by 1
Lam, E. (2012) · TSpace (University of Toronto)
Genetic basis of neurological disorder with human induced pluripotent stem cells
Vigensh, M., & Balachandar, V. (2017) · International Journal of Current Advanced Research · doi:10.24327/ijcar.2017.3886.0387
Expression of genes in the 16p11.2 locus during human fetal cortical neurogenesis
Morson, S. (2020) · ERA · doi:10.7488/era/28
Neural Activity of 16p11.2 CNV Human and Mouse
Al‐Jawahiri, R. (2019) · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)
Martsenkovsky, I., Martsenkovska, I. I., Makarenko, H. V., Skrypnyk, T., & Zdoryk, I. F. (2021) · INTERNATIONAL NEUROLOGICAL JOURNAL · doi:10.22141/2224-0713.17.2.2021.229894
Yang, Y., Booker, S. A., Clegg, J. M., Urzainqui, I. Q., Sumera, A., Kozić, Z., Dando, O., Lorenzo, S. M., Hérault, Y., Kind, P. C., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.06.03.446920
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Hirjak, D., Northoff, G., Thomann, P. A., Kubera, K. M., & Wolf, R. C. (2018) · Der Nervenarzt
Roubertoux, P. L., & Carlier, M. (2016) · Springer eBooks · doi:10.1007/978-1-4939-3777-6_5
Animal and Cellular Models of Psychotic Disorders
Pletnikov, M. V., Ming, G., & Ross, C. A. (2017) · doi:10.1093/med/9780190681425.003.0015
Expression of genes in the 16p11.2 locus during human fetal cortical neurogenesisPreprint
Morson, S., Yang, Y., Price, D. J., & Pratt, T. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/633461
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Hudac, C. M., Friedman, N. R., & Turner, T. N. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-816393-1.00001-4
Lorenzo, S. M., Moreno, M. D. M. M., Atas-Özcan, H., Pellen, M., Nalesso, V., Raffelsberger, W., Prevost, G., Lindner, L., Birling, M., Ménoret, S., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.02.11.528123
Metadata
- Authors
- Horev, G., Ellegood, J., Lerch, J. P., Son, Y.-E. E., Muthuswamy, L., Vogel, H., Krieger, A. M., Buja, A., Henkelman, R. M., Wigler, M., & Mills, A. A.
- Affiliations
- Cold Spring Harbor Laboratory (US)
- Hospital for Sick Children (CA)
- Stanford Medicine (US)
- Wharton School, University of Pennsylvania, Philadelphia, PA 19104
- University of Pennsylvania (US)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2011-10-03
- Volume
- 108
- Issue
- 41
- Pages
- 17076-17081
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC3193230
- OpenAlex
- W2052578932
- Cited by
- 330
- References
- 55
- Citations by year
- 2026: 15 · 2025: 10 · 2024: 32 · 2023: 29 · 2022: 17 · 2021: 24 · 2020: 20 · 2019: 22 · 2018: 24 · 2017: 21 · 2016: 20 · 2015: 28 · 2014: 22 · 2013: 16 · 2012: 25
- FWCI
- 13.57
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- ScholarlyCommons (University of Pennsylvania) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- 16p11.2, copy number variation, autism spectrum disorder, chromosome engineering, mouse model, 16p11.2 deletion, 16p11.2 duplication, hypothalamus, nigrostriatal lesion, brain architecture, neurodevelopmental disorders, developmental delay, obesity
- MeSH terms
- Animals, Autistic Disorder, Behavior, Animal, Brain, Chromosome Deletion, Chromosomes, Human, Pair 16, Circadian Rhythm, Disease Models, Animal, Female, Genetic Engineering, Humans, Magnetic Resonance Imaging, Male, Mice, Inbred C57BL, Mice, Mutant Strains, Phenotype, Pregnancy, Gene Dosage, Mice, Transcriptome
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