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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The human 16p11.2 locus is a roughly 500-600 kb region containing 27-29 genes on the proximal short arm of chromosome 16.
“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]
16p11.2+/− models show reduced body size/weight, in contrast to the human obesity phenotype.
“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]
16p11.2dp/+ mice (Mills) exhibit social and cognitive deficits along with increased repetitive self-grooming, with the absence of motor coordination deficits.
“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]
16p11.2dp/+ mice exhibit hypolocomotion, in direct contrast to 16p11.2+/− animals.
“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]
Hyperlocomotion is broadly reported in 16p11.2+/− mice, another behavioral feature that does not coincide directly with human symptomology.
“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]
16p11.2 hemideletion mice have larger volumes in the hypothalamus, midbrain, cerebellar cortex, striatum, nucleus accumbens, and globus pallidus.
“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]
16p11.2 duplication mice show no significant brain volume differences from wild-type mice, although several regions show trends toward smaller volume.
“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]
Reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, with deletion associated with brain overgrowth and duplication with reduced brain volume.
“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
Behavioral abnormalities associated with CNVs have been confirmed in animal models.
“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
Mice with reciprocal deletions and duplication of 16p11.2 have contrasting effects on mobility, grooming, and repetitive behaviors.
“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
Structural alterations from 16p11.2 CNV appear to be widely distributed across multiple brain regions.
“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
Relative volumetric changes in mice modeling the 16p11.2 duplication (dp/+) are in the opposite direction to those observed in df/+ mice.
“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]
Mice modeling the 16p11.2 deletion (df/+) have increased relative volume in the basal forebrain, superior colliculus, fornix, hypothalamus, mammillothalamic tract, midbrain, and periaqueductal grey compared with wild-type controls.
“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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works
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 · see citing works
Structural Variation in the Human Genome and its Role in Disease
Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201 · see citing works
Teitelbaum, P., & Epstein, A. N. (1962) · Psychological Review · doi:10.1037/h0039285 · Cited by 884 · see citing works
Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731 · see citing works
SIRT1 transgenic mice show phenotypes resembling calorie restriction
Bordone, L., Cohen, D., Robinson, A., Motta, M. C., Van Veen, E., Czopik, A., Steele, A. D., Crowe, H., Marmor, S., Luo, J., et al. (2007) · Aging Cell · doi:10.1111/j.1474-9726.2007.00335.x · Cited by 722 · see citing works
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.015 · Cited by 712 · see citing works
Self-citationMicroduplications of 16p11.2 are associated with schizophrenia
Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics · doi:10.1038/ng.474 · Cited by 711 · see citing works
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
Stark, K. L., Xu, B., Bagchi, A., Lai, W.-S., Liu, H., Hsu, R., Wan, X., Pavlidis, P., Mills, A. A., Karayiorgou, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.138 · Cited by 648 · see citing works
Self-citationAssociation 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., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647 · see citing works
Nigrostriatal bundle damage and the lateral hypothalamic syndrome.
Marshall, J. F., Richardson, J. S., & Teitelbaum, P. (1974) · Journal of Comparative and Physiological Psychology · doi:10.1037/h0037223 · Cited by 625 · see citing works
A genome-wide scan for common alleles affecting risk for autism
Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq307 · Cited by 593 · see citing works
Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580 · see citing works
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature · doi:10.1038/nature08727 · Cited by 543 · see citing works
Dorr, A. E., Lerch, J. P., Spring, S., Kabani, N. J., & Henkelman, R. M. (2008) · NeuroImage · doi:10.1016/j.neuroimage.2008.03.037 · Cited by 539 · see citing works
Self-citationNakatani, J., Tamada, K., Hatanaka, F., Ise, S., Ohta, H., Inoue, K., Tomonaga, S., Watanabe, Y., Chung, Y. J., Banerjee, R., et al. (2009) · Cell · doi:10.1016/j.cell.2009.04.024 · Cited by 482 · see citing works
Further analysis of sensory inattention following lateral hypothalamic damage in rats.
Marshall, J. F., & Teitelbaum, P. (1974) · Journal of Comparative and Physiological Psychology · doi:10.1037/h0035941 · Cited by 438 · see citing works
Congenital heart disease in mice deficient for the DiGeorge syndrome region
Lindsay, E. A., Botta, A., Jurecic, V., Carattini-Rivera, S., Cheah, Y.-C., Rosenblatt, H. M., Bradley, A., & Baldini, A. (1999) · Nature · doi:10.1038/43900 · Cited by 426 · see citing works
Sensory Neglect Produced by Lateral Hypothalamic Damage
Marshall, J. F., Turner, B. H., & Teitelbaum, P. (1971) · Science · doi:10.1126/science.174.4008.523 · Cited by 411 · see citing works
Motor skills of toddlers with autism spectrum disorders
Lloyd, M., MacDonald, M., & Lord, C. (2011) · Autism · doi:10.1177/1362361311402230 · Cited by 395 · see citing works
CHD5 Is a Tumor Suppressor at Human 1p36
Bagchi, A., Papazoglu, C., Wu, Y., Capurso, D., Brodt, M., Francis, D. B., Bredel, M., Vogel, H. S., & Mills, A. A. (2007) · Cell · doi:10.1016/j.cell.2006.11.052 · Cited by 364 · see citing works
Self-citationFernandez, B. A., Roberts, W., Chung, B., Weksberg, R., Meyn, S., Szatmari, P., Joseph-George, A. M., MacKay, S., Whitten, K., Noble, B., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.069369 · Cited by 335 · see citing works
Liu, H., Heath, S. C., Sobin, C., Roos, J. L., Galke, B. L., Blundell, M. L., Lenane, M., Robertson, B., Wijsman, E. M., Rapoport, J. L., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.042700699 · Cited by 323 · see citing works
Bijlsma, E. K., Gijsbers, A. C. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., Fransen van de Putte, D. E., Anderlid, B.-M., Lundin, J., Lapunzina, P., Pérez Jurado, L. A., Delle Chiaie, B., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.006 · Cited by 282 · see citing works
TAp63 induces senescence and suppresses tumorigenesis in vivo
Guo, X., Keyes, W. M., Papazoglu, C., Zuber, J. A., Li, W., Lowe, S. W., Vogel, H. S., & Mills, A. A. (2009) · Nature Cell Biology · doi:10.1038/ncb1988 · Cited by 251 · see citing works
Self-citationRosenfeld, J. A., Coppinger, J., Bejjani, B. A., Girirajan, S., Eichler, E. E., Shaffer, L. G., & Ballif, B. C. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9037-4 · Cited by 207 · see citing works
The possible interplay of synaptic and clock genes in autism spectrum disorders
Bourgeron, T. (2007) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2007.72.020 · Cited by 185 · see citing works
Steele, A. D., Jackson, W. S., King, O. D., & Lindquist, S. L. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0610779104 · Cited by 181 · see citing works
Compulsive, Abnormal Walking Caused by Anticholinergics in Akinetic, 6-Hydroxydopamine-Treated Rats
Schallert, T. J., Whishaw, I. Q., Ramirez, V. D., & Teitelbaum, P. (1978) · Science · doi:10.1126/science.564552 · Cited by 161 · see citing works
Copy number variants at Williams–Beuren syndrome 7q11.23 region
Merla, G., Brunetti‐Pierri, N., Micale, L., & Fusco, C. (2010) · Human Genetics · doi:10.1007/s00439-010-0827-2 · Cited by 152 · see citing works
A proposed natural geometry of recovery from akinesia in the lateral hypothalamic rat
Golani, I., Wolgin, D. L., & Teitelbaum, P. (1979) · Brain Research · doi:10.1016/0006-8993(79)90019-2 · Cited by 148 · see citing works
Ricard, G., Molina, J., Chrast, J., Gu, W., Gheldof, N., Pradervand, S., Schütz, F., Young, J. I., Lupski, J. R., Reymond, A., et al. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000543 · Cited by 147 · see citing works
Mutagenic Insertion and Chromosome Engineering Resource (MICER)
Adams, D. J., Biggs, P. J., Cox, T., Davies, R. M., van der Weyden, L., Jonkers, J., Smith, J. A., Plumb, B., Taylor, R., Nishijima, I., et al. (2004) · Nature Genetics · doi:10.1038/ng1388 · Cited by 130 · see citing works
Cognitive and behavioral characterization of 16p11.2 deletion syndrome
Hanson, E., Nasir, R. H., Fong, A., Lian, A., Hundley, R., Shen, Y., Wu, B.-L., Holm, I. A., & Miller, D. T. (2010) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e3181ea50ed · Cited by 125 · see citing works
Walz, K., Carattini-Rivera, S., Bi, W., Fonseca, P., Mansouri, D. L., Lynch, J., Vogel, H. S., Noebels, J. L., Bradley, A., & Lupski, J. R. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.10.3646-3655.2003 · Cited by 105 · see citing works
Self-citationLi, H. H., Roy, M., Kusçuoglu, U., Spencer, C. M., Halm, B., Harrison, K. C., Bayle, J. H., Splendore, A., Ding, F., Meltzer, L. A., et al. (2009) · EMBO Molecular Medicine · doi:10.1002/emmm.200900003 · Cited by 104 · see citing works
Roughan, J. V., Wright-Williams, S. L., & Flecknell, P. A. (2009) · Laboratory Animals · doi:10.1258/la.2008.007156 · Cited by 101 · see citing works
Golani, I. (1992) · Behavioral and Brain Sciences · doi:10.1017/s0140525x00068539 · Cited by 89 · see citing works
From mouse to man: generating megabase chromosome rearrangements
Mills, A. A., & Bradley, A. (2001) · Trends in Genetics · doi:10.1016/s0168-9525(01)02321-6 · Cited by 86 · see citing works
Self-citationChen, L., Zhang, X., Chen‐Roetling, J., & Regan, R. F. (2010) · Journal of neurosurgery · doi:10.3171/2010.10.jns10861 · Cited by 67 · see citing works
Schaaf, C. P., Goin‐Kochel, R. P., Nowell, K. P., Hunter, J. V., Aleck, K. A., Cox, S., Patel, A., Bacino, C. A., & Shinawi, M. S. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.168 · Cited by 57 · see citing works
Ten ways to improve the quality of descriptions of whole-animal movement
Benjamini, Y., Lipkind, D., Horev, G., Fonio, E., Kafkafi, N., & Golani, I. (2010) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2010.04.004 · Cited by 53 · see citing works
Self-citationMoeschler, J. B. (2008) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3282f82c2d · Cited by 52 · see citing works
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae
Shimojima, K. Y., Inoue, T., Fujii, Y., Ohno, K., & Yamamoto, T. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.09.007 · Cited by 48 · see citing works
Shen, Y., Chen, X., Wang, L., Guo, J., Shen, J., An, Y., Zhu, H., Zhu, Y., Xin, R., Bao, Y., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31147 · Cited by 47 · see citing works
Estimating wall guidance and attraction in mouse free locomotor behavior
Horev, G., Benjamini, Y., Sakov, A., & Golani, I. (2006) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2006.00216.x · Cited by 38 · see citing works
Self-citationBock, N. A., Zadeh, G. M., Davidson, L., Qian, B., Sled, J. G., Guha, A., & Henkelman, R. M. (2003) · Neoplasia · doi:10.1016/s1476-5586(03)80038-6 · Cited by 36 · see citing works
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Flagged first, then by citations
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Sorted by citations
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., et al. (2017) · Nature Genetics · doi:10.1038/ng.3725 · Cited by 1,058 · see citing works
Hippocampal GABAergic Inhibitory Interneurons
Pelkey, K. A., Chittajallu, R., Craig, M. T., Tricoire, L., Wester, J. C., & McBain, C. J. (2017) · Physiological Reviews · doi:10.1152/physrev.00007.2017 · Cited by 889 · see citing works
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works
Autism spectrum disorder: neuropathology and animal models
Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536 · see citing works
Genetic Causes and Modifiers of Autism Spectrum Disorder
Rylaarsdam, L. E., & Guemez‐Gamboa, A. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00385 · Cited by 575 · see citing works
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature · doi:10.1038/nature11091 · Cited by 410 · see citing works
Ellegood, J., Anagnostou, E., Babineau, B. A., Crawley, J. N., Lin, L., Genestine, M., DiCicco-Bloom, E., Lai, J. K. Y., Foster, J. A., Peñagarikano, O., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.98 · Cited by 288 · see citing works
Self-citationStriatal Circuits as a Common Node for Autism Pathophysiology
Fuccillo, M. V. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00027 · Cited by 269 · see citing works
A Dopamine Hypothesis of Autism Spectrum Disorder
Pavăl, D. (2017) · Developmental Neuroscience · doi:10.1159/000478725 · Cited by 294 · see citing works
Portmann, T., Yang, M., Mao, R., Panagiotakos, G., Ellegood, J., Dolen, G., Bader, P. L., Grueter, B. A., Goold, C., Fisher, E., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.03.036 · Cited by 245 · see citing works
Self-citationSignalling pathways in autism spectrum disorder: mechanisms and therapeutic implications
Jiang, C.-C., Lin, L., Long, S., Ke, X., Fukunaga, K., Lu, Y., & Han, F. (2022) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-022-01081-0 · Cited by 272 · see citing works
5-HT release in nucleus accumbens rescues social deficits in mouse autism model
Walsh, J. J., Christoffel, D. J., Heifets, B. D., Ben-Dor, G. A., Selimbeyoglu, A., Hung, L. W., Deisseroth, K., & Malenka, R. C. (2018) · Nature · doi:10.1038/s41586-018-0416-4 · Cited by 256 · see citing works
Targeting peripheral somatosensory neurons to improve tactile-related phenotypes in ASD models
Orefice, L. L., Mosko, J. R., Morency, D. T., Wells, M. F., Tasnim, A., Mozeika, S. M., Ye, M., Chirila, A. M., Emanuel, A. J., Rankin, G., et al. (2019) · Cell · doi:10.1016/j.cell.2019.07.024 · Cited by 247 · see citing works
A standardized social preference protocol for measuring social deficits in mouse models of autism
Rein, B. A., Ma, K., & Yan, Z. (2020) · Nature Protocols · doi:10.1038/s41596-020-0382-9 · Cited by 238 · see citing works
Pucilowska, J., Vithayathil, J., Tavares, E. J., Kelly, C., Karlo, J. C., & Landreth, G. E. (2015) · The Journal of Neuroscience · doi:10.1523/jneurosci.4864-13.2015 · Cited by 207 · see citing works
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
16p11.2 European Consortium, Maillard, A. M., Ruef, A., Pizzagalli, F., Migliavacca, E., Hippolyte, L., Adaszewski, S., Dukart, J., Ferrari, C., Conus, P., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.145 · Cited by 217 · see citing works
Genetic Approaches to Neural Circuits in the Mouse
Josh Huang, Z., & Zeng, H. (2013) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-062012-170307 · Cited by 200 · see citing works
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses
Won, H., Mah, W., & Kim, E. (2013) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2013.00019 · Cited by 204 · see citing works
ERK/MAPK signalling in the developing brain: Perturbations and consequences
Iroegbu, J. D., Ijomone, O. K., Femi-Akinlosotu, O. M., & Ijomone, O. M. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.10.009 · Cited by 206 · see citing works
Richter, M., Murtaza, N., Scharrenberg, R., White, S. H., Johanns, O., Walker, S., Yuen, R. K. C., Schwanke, B., Bedürftig, B., Henis, M., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0025-5 · Cited by 169 · see citing works
Self-citationOpposing Brain Differences in 16p11.2 Deletion and Duplication Carriers
Qureshi, A. Y., Mueller, S., Snyder, A. Z., Mukherjee, P., Berman, J. I., Roberts, T. P. L., Nagarajan, S. S., Spiro, J. E., Chung, W. K., Sherr, E. H., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.1366-14.2014 · Cited by 183 · see citing works
Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops
Mullins, C., Fishell, G., & Tsien, R. W. (2016) · Neuron · doi:10.1016/j.neuron.2016.02.017 · Cited by 167 · see citing works
Steadman, P. E., Ellegood, J., Szulc, K. U., Turnbull, D. H., Joyner, A. L., Henkelman, R. M., & Lerch, J. P. (2013) · Autism Research · doi:10.1002/aur.1344 · Cited by 169 · see citing works
Self-citationArbogast, T., Ouagazzal, A.-M., Chevalier, C., Kopanitsa, M., Afinowi, N., Migliavacca, E., Cowling, B. S., Birling, M.-C., Champy, M.-F., Reymond, A., et al. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1005709 · Cited by 151 · see citing works
16p11.2 Copy Number Variations and Neurodevelopmental Disorders
Rein, B., & Yan, Z. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.09.001 · Cited by 160 · see citing works
Lin, G. N., Corominas, R., Lemmens, I., Yang, X., Tavernier, J., Hill, D. E., Vidal, M., Sebat, J., & Iakoucheva, L. M. (2015) · Neuron · doi:10.1016/j.neuron.2015.01.010 · Cited by 155 · see citing works
Luo, R., Sanders, S. J., Tian, Y., Voineagu, I., Huang, N., Chu, S. H., Klei, L., Cai, C., Ou, J., Lowe, J. K., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.011 · Cited by 167 · see citing works
The Emerging Clinical Neuroscience of Autism Spectrum Disorder
Muhle, R., Reed, H. E., Stratigos, K. A., & Veenstra-VanderWeele, J. M. (2018) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2017.4685 · Cited by 167 · see citing works
Behavioral neuroscience of autism
Takumi, T., Tamada, K., Hatanaka, F., Nakai, N., & Bolton, P. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.04.012 · Cited by 163 · see citing works
Genomic disorders 20 years on—mechanisms for clinical manifestations
Harel, T., & Lupski, J. R. (2017) · Clinical Genetics · doi:10.1111/cge.13146 · Cited by 142 · see citing works
Kim, H., Lim, C., & Kaang, B. (2016) · Behavioral and Brain Functions · doi:10.1186/s12993-016-0087-y · Cited by 146 · see citing works
Blumenthal, I., Ragavendran, A., Erdin, S., Klei, L., Sugathan, A., Guide, J. R., Manavalan, P., Zhou, J. Q., Wheeler, V. C., Levin, J. Z., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.05.004 · Cited by 145 · see citing works
Bertero, A., Liska, A., Pagani, M., Parolisi, R., Masferrer, M. E., Gritti, M., Pedrazzoli, M., Galbusera, A., Sarica, A., Cerasa, A., et al. (2018) · Brain · doi:10.1093/brain/awy111 · Cited by 120 · see citing works
Imaging sex/gender and autism in the brain: Etiological implications
Lai, M., Lerch, J. P., Floris, D. L., Ruigrok, A. N. V., Pohl, A. L., Lombardo, M. V., & Baron‐Cohen, S. (2016) · Journal of Neuroscience Research · doi:10.1002/jnr.23948 · Cited by 134 · see citing works
Self-citationGenetic aspects of autism spectrum disorders: insights from animal models
Banerjee, S., Riordan, M., & Bhat, M. A. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00058 · Cited by 137 · see citing works
Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
Urresti, J., Zhang, P., Losada, P. M., Yu, N., Negraes, P. D., Trujillo, C. A., Antaki, D., Amar, M., Chau, K. K., Pramod, A. B., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01243-6 · Cited by 133 · see citing works
Ellegood, J., Babineau, B. A., Henkelman, R. M., Lerch, J. P., & Crawley, J. N. (2013) · NeuroImage · doi:10.1016/j.neuroimage.2012.12.029 · Cited by 135 · see citing works
Self-citationBehavioral and Neuroanatomical Phenotypes in Mouse Models of Autism
Ellegood, J., & Crawley, J. N. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0360-z · Cited by 132 · see citing works
Self-citationTorres, F., Barbosa, M., & Maciel, P. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103366 · Cited by 123 · see citing works
Hiroi, N., Takahashi, T., Hishimoto, A., Izumi, T., Boku, S., & Hiramoto, T. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.92 · Cited by 122 · see citing works
Brunner, D., Kabitzke, P., He, D., Cox, K., Thiede, L., Hanania, T., Sabath, E., Alexandrov, V., Saxe, M., Peles, E., et al. (2015) · PLOS ONE · doi:10.1371/journal.pone.0134572 · Cited by 111 · see citing works
Self-citationCNV biology in neurodevelopmental disorders
Takumi, T., & Tamada, K. (2018) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2017.12.004 · Cited by 116 · see citing works
Spooren, W., Lindemann, L., Ghosh, A., & Santarelli, L. (2012) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2012.09.004 · Cited by 119 · see citing works
Genetic and non-genetic animal models for autism spectrum disorders (ASD)
Ergaz, Z., Weinstein‐Fudim, L., & Ornoy, A. (2016) · Reproductive Toxicology · doi:10.1016/j.reprotox.2016.04.024 · Cited by 116 · see citing works
Effect of Copy Number Variants on Outcomes for Infants With Single Ventricle Heart Defects
Carey, A. S., Liang, L., Edwards, J. J., Brandt, T., Mei, H., Sharp, A. J., Hsu, D. T., Newburger, J. W., Ohye, R. G., Chung, W. K., et al. (2013) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.113.000189 · Cited by 115 · see citing works
Aberrant white matter microstructure in children with 16p11.2 deletions
Owen, J. P., Chang, Y. S., Pojman, N. J., Bukshpun, P., Wakahiro, M. L. J., Marco, E. J., Berman, J. I., Spiro, J. E., Chung, W. K., Buckner, R. L., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.4495-13.2014 · Cited by 113 · see citing works
Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
Tian, D., Stoppel, L. J., Heynen, A. J., Lindemann, L., Jaeschke, G., Mills, A. A., & Bear, M. F. (2015) · Nature Neuroscience · doi:10.1038/nn.3911 · Cited by 109 · see citing works
Self-citationBrain mapping across 16 autism mouse models reveals a spectrum of functional connectivity subtypes
Zerbi, V., Pagani, M., Markicevic, M., Matteoli, M., Pozzi, D., Fagiolini, M., Bozzi, Y., Galbusera, A., Scattoni, M. L., Provenzano, G., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01245-4 · Cited by 102 · see citing works
Self-citationWhole-brain comparison of rodent and human brains using spatial transcriptomics
Beauchamp, A., Yee, Y., Darwin, B. C., Raznahan, A., Mars, R. B., & Lerch, J. P. (2022) · eLife · doi:10.7554/elife.79418 · Cited by 107 · see citing works
Self-citationModeling human neurodegenerative diseases in transgenic systems
Sosa, M. A. G., Gasperi, R. D., & Elder, G. A. (2011) · Human Genetics · doi:10.1007/s00439-011-1119-1 · Cited by 107 · see citing works
Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice
Ouellette, J., Toussay, X., Comin, C. H., Costa, L. D. F., Ho, M. S. H., Lacalle‐Aurioles, M., Andrade, M. F., Liu, Q. Y., Leclerc, S., Pan, Y., et al. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0663-1 · Cited by 104 · see citing works
Lim, C. K., Essa, M., Martins, R. D. P., Lovejoy, D. B., Bilgin, A. A., Waly, M., Al-Farsi, Y., Al-Sharbati, M., Al-Shaffae, M. A., & Guillemin, G. (2016) · Autism Research · doi:10.1002/aur.1565 · Cited by 95 · see citing works
Yang, M., Mahrt, E. J., Lewis, F., Foley, G., Portmann, T., Dolmetsch, R. E., Portfors, C. V., & Crawley, J. N. (2015) · Autism Research · doi:10.1002/aur.1465 · Cited by 96 · see citing works
Hyperactivity and male‐specific sleep deficits in the 16p11.2 deletion mouse model of autism
Angelakos, C. C., Watson, A. J., O'Brien, W. T., Krainock, K. S., Nickl‐Jockschat, T., & Abel, T. (2017) · Autism Research · doi:10.1002/aur.1707 · Cited by 83 · see citing works
Pucilowska, J., Vithayathil, J., Pagani, M., Kelly, C. L., Karlo, J. C., Robol, C., Morella, I., Gozzi, A., Brambilla, R., & Landreth, G. E. (2018) · Journal of Neuroscience · doi:10.1523/jneurosci.0515-17.2018 · Cited by 89 · see citing works
Genomic and genetic aspects of autism spectrum disorder
Liu, X., & Takumi, T. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.08.108 · Cited by 93 · see citing works
Neural Mechanisms Underlying Repetitive Behaviors in Rodent Models of Autism Spectrum Disorders
Gandhi, T., & Lee, C. C. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.592710 · Cited by 94 · see citing works
Stride-level analysis of mouse open field behavior using deep-learning-based pose estimation
Sheppard, K., Gardin, J., Sabnis, G. S., Peer, A., Darrell, M., Deats, S., Geuther, B. Q., Lutz, C. M., & Kumar, V. (2022) · Cell Reports · doi:10.1016/j.celrep.2021.110231 · Cited by 104 · see citing works
Dauber, A. N., Golzio, C., Guenot, C., Jodelka, F. M., Kibæk, M., Kjærgaard, S., Leheup, B., Martinet, D., Nowaczyk, M. J. M., Rosenfeld, J. A., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.09.010 · Cited by 90 · see citing works
Stoppel, L. J., Kazdoba, T. M., Schaffler, M. D., Preza, A. R., Heynen, A., Crawley, J. N., & Bear, M. F. (2018) · Neuropsychopharmacology · doi:10.1038/npp.2017.236 · Cited by 92 · see citing works
Male-specific deficits in natural reward learning in a mouse model of neurodevelopmental disorders
Grissom, N. M., McKee, S. E., Schoch, H., Bowman, N., Havekes, R., O'Brien, W. T., Mahrt, E., Siegel, S., Commons, K., Portfors, C., et al. (2018) · Molecular Psychiatry · doi:10.1038/mp.2017.184 · Cited by 92 · see citing works
Blaker, A. L., Gupta, S. K., McCammon, J. M., Rienzo, G. D., & Sive, H. L. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.009944 · Cited by 89 · see citing works
From Neurodevelopmental to Neurodegenerative Disorders: The Vascular Continuum
Ouellette, J., & Lacoste, B. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.749026 · Cited by 87 · see citing works
Metformin for treatment of fragile X syndrome and other neurological disorders
Gantois, I., Popic, J., Khoutorsky, A., & Sonenberg, N. (2019) · Annual Review of Medicine · doi:10.1146/annurev-med-081117-041238 · Cited by 87 · see citing works
Iyer, J. S., Singh, M. D., Jensen, M., Patel, P. T., Pizzo, L., Huber, E., Koerselman, H., Weiner, A. T., Lepanto, P., Vadodaria, K., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04882-6 · Cited by 80 · see citing works
Deletion of α-neurexin II results in autism-related behaviors in mice
Dachtler, J., Glasper, J., Cohen, R. N., Ivorra, J. L., Swiffen, D. J., Jackson, A. J., Harte, M. K., Rodgers, R. J., & Clapcote, S. J. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.123 · Cited by 84 · see citing works
Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry
Lin, A., Ching, C. R. K., Vajdi, A., Sun, D., Jonas, R. K., Jalbrzikowski, M., Kushan-Wells, L., Pacheco Hansen, L., Krikorian, E., Gutman, B., et al. (2017) · The Journal of Neuroscience · doi:10.1523/jneurosci.3759-16.2017 · Cited by 69 · see citing works
Blizinsky, K. D., Diaz-Castro, B., Forrest, M. P., Schürmann, B., Bach, A. P., Martin-de-Saavedra, M. D., Wang, L., Csernansky, J. G., Duan, J., & Penzes, P. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1607014113 · Cited by 76 · see citing works
Accardo, J., & Malow, B. A. (2014) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2014.09.081 · Cited by 81 · see citing works
Coronin-1A: Immune Deficiency in Humans and Mice
Punwani, D., Pelz, B. J., Yu, J., Arva, N. C., Schafernak, K. T., Kondratowicz, K., Makhija, M., & Puck, J. M. (2015) · Journal of Clinical Immunology · doi:10.1007/s10875-015-0130-z · Cited by 78 · see citing works
Overview of Mouse Models of Autism Spectrum Disorders
Bey, A. L., & Jiang, Y. (2014) · Current Protocols in Pharmacology · doi:10.1002/0471141755.ph0566s66 · Cited by 78 · see citing works
Coronin 1 Regulates Cognition and Behavior through Modulation of cAMP/Protein Kinase A Signaling
Jayachandran, R., Liu, X., Dasgupta, S. B., Müller, P., Zhang, C.-L., Moshous, D., Studer, V., Schneider, J., Genoud, C., Fossoud, C., et al. (2014) · PLoS Biology · doi:10.1371/journal.pbio.1001820 · Cited by 78 · see citing works
Genetic architecture of reciprocal CNVs
Golzio, C., & Katsanis, N. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.04.013 · Cited by 75 · see citing works
Wang, W., Rein, B., Zhang, F., Tan, T., Zhong, P., Qin, L., & Yan, Z. (2018) · The Journal of Neuroscience · doi:10.1523/jneurosci.0149-18.2018 · Cited by 74 · see citing works
Yang, M., Lewis, F. C., Sarvi, M. S., Foley, G. M., & Crawley, J. N. (2015) · Learning & Memory · doi:10.1101/lm.039602.115 · Cited by 70 · see citing works
Characterizing autism spectrum disorders by key biochemical pathways
Subramanian, M. P., Timmerman, C., Schwartz, J. L., Pham, D. L., & Meffert, M. K. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00313 · Cited by 71 · see citing works
Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion
Ellegood, J., Markx, S., Lerch, J. P., Steadman, P. E., Genç, C., Provenzano, F. A., Kushner, S. A., Henkelman, R. M., Karayiorgou, M., & Gogos, J. A. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.112 · Cited by 70 · see citing works
Self-citationA Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
Migliavacca, E., Golzio, C., Männik, K., Blumenthal, I., Oh, E. C. T., Harewood, L., Kosmicki, J. A., Loviglio, M. N., Giannuzzi, G., Hippolyte, L., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.04.002 · Cited by 61 · see citing works
Rizzo, S. J. S., & Crawley, J. N. (2017) · Annual Review of Animal Biosciences · doi:10.1146/annurev-animal-022516-022754 · Cited by 66 · see citing works
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions
Arbogast, T., Razaz, P., Ellegood, J., McKinstry, S. U., Erdin, S., Currall, B., Aneichyk, T., Lerch, J. P., Qiu, L. R., Rodriguiz, R. M., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddy436 · Cited by 52 · see citing works
Self-citationWilkes, B. J., & Lewis, M. H. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.05.022 · Cited by 64 · see citing works
Rein, B., Tan, T., Yang, F., Wang, W., Williams, J., Zhang, F., Mills, A., & Yan, Z. (2021) · Molecular Psychiatry · doi:10.1038/s41380-020-0693-9 · Cited by 58 · see citing works
Self-citationNakamura, T., & Takata, A. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02005-2 · Cited by 69 · see citing works
Sundberg, M., Pinson, H., Smith, R. S., Winden, K. D., Venugopal, P., Tai, D. J. C., Gusella, J. F., Talkowski, M. E., Walsh, C. A., Tegmark, M., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-23113-z · Cited by 55 · see citing works
Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits
Lacaria, M., Spencer, C. M., Gu, W., Paylor, R. E., & Lupski, J. R. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds124 · Cited by 59 · see citing works
Kumar, V. J., Grissom, N. M., McKee, S. E., Schoch, H., Bowman, N., Havekes, R., Kumar, M., Pickup, S., Poptani, H., Reyes, T. M., et al. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0157-z · Cited by 54 · see citing works
Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders
Deshpande, A., & Weiss, L. A. (2018) · Developmental Neurobiology · doi:10.1002/dneu.22587 · Cited by 58 · see citing works
Copy‐number variation in the pathogenesis of autism spectrum disorder
Shishido, E., Aleksić, B., & Ozaki, N. (2013) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.12128 · Cited by 58 · see citing works
Kalkman, H. O. (2012) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2012.07.008 · Cited by 57 · see citing works
The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes
McCammon, J. M., Blaker, A. L., Chen, X., & Sive, H. L. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx255 · Cited by 53 · see citing works
Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development
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) · Cell Reports · doi:10.1016/j.celrep.2019.08.071 · Cited by 55 · see citing works
Jiang, J. W., Wang, D., Jiang, Y., Yang, X., Sun, R., Chang, J., Wenhui, Z., Yao, P., Song, K., Chang, S., et al. (2024) · Microbiome · doi:10.1186/s40168-024-01755-7 · Cited by 60 · see citing works
Developmental Disruptions of the Dorsal Striatum in Autism Spectrum Disorder
Evans, M. M., Kim, J., Abel, T. G., Nickl‐Jockschat, T., & Stevens, H. E. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.08.015 · Cited by 49 · see citing works
Ellegood, J., Henkelman, R. M., & Lerch, J. P. (2012) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2012.00037 · Cited by 51 · see citing works
Self-citationLorenzo, S. M., Nalesso, V., Chevalier, C., Birling, M., & Hérault, Y. (2021) · Molecular Autism · doi:10.1186/s13229-020-00405-7 · Cited by 48 · see citing works
Giannuzzi, G., Schmidt, P. J., Porcu, E., Willemin, G., Munson, K. M., Nuttle, X., Earl, R. K., Chrast, J., Hoekzema, K., Risso, D. S., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.09.023 · Cited by 47 · see citing works
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16
Redaelli, S., Maitz, S. B., Crosti, F., Sala, E. M., Villa, N., Spaccini, L., Selicorni, A., Rigoldi, M., Conconi, D., Dalprà, L., et al. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20051095 · Cited by 47 · see citing works
Regional brain volumes changes in adult male FMR1-KO mouse on the FVB strain
Lai, J., Lerch, J. P., Doering, L. C., Foster, J. A., & Ellegood, J. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2016.01.021 · Cited by 45 · see citing works
Self-citationLacaria, M., Saha, P., Potocki, L., Bi, W., Yan, J., Girirajan, S., Burns, B., Elsea, S. H., Walz, K., Chan, L., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002713 · Cited by 42 · see citing works
16p11.2 Locus modulates response to satiety before the onset of obesity
Maillard, A. M., Hippolyte, L., Rodríguez‐Herreros, B., Chawner, S. J. R. A., Dremmel, D., Agüera, Z., Fagundo, A. B., Pain, A., Martin‐Brevet, S., Hilbert, A., et al. (2015) · International Journal of Obesity · doi:10.1038/ijo.2015.247 · Cited by 44 · see citing works
- 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
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.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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