The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Open accessAbstract
Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies focusing on candidate genes or genomic regions have identified several copy number variations (CNVs) that are associated with an increased risk of ASDs. Here we present the results from a whole-genome CNV study on a cohort of 859 ASD cases and 1,409 healthy children of European ancestry who were genotyped with approximately 550,000 single nucleotide polymorphism markers, in an attempt to comprehensively identify CNVs conferring susceptibility to ASDs. Positive findings were evaluated in an independent cohort of 1,336 ASD cases and 1,110 controls of European ancestry. Besides previously reported ASD candidate genes, such as NRXN1 (ref. 10) and CNTN4 (refs 11, 12), several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls (P = 9.5 x 10(-3)). Furthermore, CNVs within or surrounding genes involved in the ubiquitin pathways, including UBE3A, PARK2, RFWD2 and FBXO40, were affected by CNVs not observed in controls (P = 3.3 x 10(-3)). We also identified duplications 55 kilobases upstream of complementary DNA AK123120 (P = 3.6 x 10(-6)). Although these variants may be individually rare, they target genes involved in neuronal cell-adhesion or ubiquitin degradation, indicating that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“These include deletions and/or duplications at specific loci, including: 1q21.1, 15q11.2-13.1, 15q13.2-13.3, 16p11.2, 17q12, and 22q11.2”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Glessner et al., 2009
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“recurrent structural variations involving one or a small number of genes, including: Neurexin 1 (NRXN1), Contactin 4 (CNTN4), Neuroligin 1 (NLGN1), Astrotactin 2 (ASTN2), and the contiguous genes Patched Domain Containing 1 (PTCHD1) and DEAD box Protein 53 (DDX53)”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Glessner et al., 2009
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Whereas module 2 is rather homogeneous in terms of protein function, M1 comprises diverse functional categories, including genes involved in the ubiquitin pathway and in cancer (see below), in line with previous observations57, 58.”
From Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders (2017) · cites this paper as [57]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Of these, the neurexin-1 (nrxn1) gene has been linked directly to ASD and SCZ (Kim et al. 2008; Rujescu et al. 2009, Glessner et al. 2009; Ching et al. 2010; Gauthier et al. 2011).”
From Neurexin1α knockout in rats causes aberrant social behaviour: relevance for autism and schizophrenia (2025) · cites this paper as Glessner et al. 2009
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“To incorporate construct validity for the various genetic mutations identified in small numbers of people with autism (12–21), these mutations have been generated in mice (22, 23).”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [18]
The cited source says what the claim attributes to it.
In the citing paper
“Genes previously implicated in ASD by rare variant findings have pointed to functional themes in ASD pathophysiology 6,28 .”
From Functional impact of global rare copy number variation in autism spectrum disorders (2010) · cites this paper as [28]
In the citing paper
“for the latter, these biological processes, and the ubiquitin pathway in particular, have been previously implicated in ASD pathogenesis (Glessner et al., 2009)”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Glessner et al., 2009
In the citing paper
“the larger family of proteins has been implicated in ASD pathogenesis through CNV studies (Glessner et al., 2009), homozygosity mapping (Morrow et al., 2008), common variant findings (Wang et al., 2009), and our pathway analysis (Figure 6)”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Glessner et al., 2009
In the citing paper
“Glessner et al. (2009) observed an enrichment of CNVs at multiple sites, and some of their top hits were genes involved in ubiquitin pathways, including UBE3A, PARK2, RFWD2 and FBXO40. Pinto et al. (2010) observed an enrichment of CNVs within gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signaling. Gilman et al. (2011) found an enrichment of CNVs in gene”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Glessner et al., 2009
In the citing paper
“Interestingly, because many mRNA for synaptic genes are alternatively spliced, and the proteins regulated by ubiquitination, this paper was prescient in predicting alterations in mRNA splicing and ubiquitination pathways that have since been identified [49, 50].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [50]
In the citing paper
“de novo mutations also highlight the importance of genes with roles in synaptic function and localization – a pathway previously suspected to be disrupted in ASD [78].”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [78]
In the citing paper
“The two SHANK3 deletions reported by Glessner et al. (2009) [34] in control subjects have not been validated and should be interpreted with caution.”
From Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) · cites this paper as [34]
In the citing paper
“For controls, the two SHANK3 deletions reported by Glessner et al. (2009) among 2 519 individuals, were not validated and thus should be regarded with caution.”
From Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) · cites this paper as Glessner et al. (2009)
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Human Genome Browser at UCSC
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400
DAVID: Database for Annotation, Visualization, and Integrated Discovery
Dennis, G., Sherman, B. T., Hosack, D. A., Yang, J., Gao, W., Lane, H. C., & Lempicki, R. A. (2003) · Genome Biology · doi:10.1186/gb-2003-4-5-p3 · Cited by 9,327
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Kitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y., & Shimizu, N. (1998) · Nature · doi:10.1038/33416 · Cited by 5,227
Hellemans, J., Mortier, G., De Paepe, A., Speleman, F., & Vandesompele, J. (2007) · Genome Biology · doi:10.1186/gb-2007-8-2-r19 · Cited by 4,023
Strong 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-citationDAVID: Database for Annotation, Visualization, and Integrated Discovery
Dennis, G., Sherman, B. T., Hosack, D. A., Yang, J., Gao, W., Lane, H. C., & Lempicki, R. A. (2003) · Genome biology · doi:10.1186/gb-2003-4-9-r60 · Cited by 2,383
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851
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 · cited 1×
“003 chr10: 87941666–87949029 GRID1 Glutamate receptor Del 4 1 10 (8) 2 4:7:0 (100%) 5.”
Wang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S. F. A., Hakonarson, H., & Bucan, M. (2007) · Genome Research · doi:10.1101/gr.6861907 · Cited by 1,792
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., 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
Cited by
Sorted by citations
Items 901–1,000 of 1,000
Ranieri, A., Monica, I. L., Iorio, M. R. D., Lombardo, B., & Pastore, L. (2024) · Genes · doi:10.3390/genes15040427 · Cited by 12
Jin, F., & Wang, Z. (2024) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1514678 · Cited by 12
Unraveling the Roles of UBE3A in Neurodevelopment and Neurodegeneration
Yang, X., & Huang, Y. A. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26052304 · Cited by 12
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
Pathophysiological mechanisms of autism in children
Chernov, A. N. (2020) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro202012003197 · Cited by 12
Wang, L., Zhang, Y., Li, K., Wang, Z., Wang, X., Li, B., Zhao, G., Fang, Z., Ling, Z., Luo, T., et al. (2020) · Molecular Autism · doi:10.1186/s13229-020-00382-x · Cited by 12
Levy, K. A., Weisz, E. D., & Jongens, T. A. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac115 · Cited by 12
Martinez, M. E., Stohn, J. P., Mutina, E. M., Whitten, R. J., & Hernández, A. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.1055116 · Cited by 12
A blueprint for research on Shankopathies: A view from research on autism spectrum disorder
Carbonetto, S. (2013) · Developmental Neurobiology · doi:10.1002/dneu.22150 · Cited by 13
Analysis of chromosomal structural variation in patients with congenital left‐sided cardiac lesions
White, P. S., Xie, H. M., Werner, P., Glessner, J., Latney, B., Hakonarson, H. H., & Goldmuntz, E. (2014) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.23279 · Cited by 12
Self-citationAn efficient gene–gene interaction test for genome-wide association studies in trio families
Sung, P.-Y., Wang, Y.-T., Yu, Y.-W., & Chung, R. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw077 · Cited by 12
Cleave but not leave: Astrotactin proteins in development and disease
Chang, H. (2017) · IUBMB Life · doi:10.1002/iub.1641 · Cited by 12
Zhang, L., Qin, Y., Gong, X., Peng, R., Cai, C., Zheng, Y., Du, Y., & Wang, H. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0369-x · Cited by 12
Animal models of autism: a perspective from autophagy mechanisms
Dana, H., Tahtasakal, R., & Şener, E. F. (2020) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2020.25 · Cited by 12
Luo, J. K., Tan, J. M., & Nithianantharajah, J. (2020) · BMC Biology · doi:10.1186/s12915-020-00848-7 · Cited by 14
Ubiquitin proteasome system networks in the neurological disorders
Anuppalle, M., Maddirevula, S., Huh, T., & Rhee, M. (2013) · Animal Cells and Systems · doi:10.1080/19768354.2013.855256 · Cited by 12
Target-based drug discovery, genetic diseases, and biologics
Hurko, O. (2012) · Neurochemistry International · doi:10.1016/j.neuint.2012.01.016 · Cited by 12
Genome Variation and Complexity in the Autism Spectrum
van de Lagemaat, L. N., & Grant, S. G. N. (2010) · Neuron · doi:10.1016/j.neuron.2010.06.026 · Cited by 12
Self-citationLiao, W., Wan, L., Wang, T.-Y., Chen, C., Tse, S.-S., Lu, C.-H., & Tsai, F. (2014) · BMC Ophthalmology · doi:10.1186/1471-2415-14-15 · Cited by 12
de Smith, A. J., Trewick, A. L., & Blakemore, A. I. F. (2010) · The HUGO Journal · doi:10.1007/s11568-010-9144-z · Cited by 12
Conceição, I. C., Rama, M. M., Oliveira, B., Café, C., Almeida, J., Mouga, S., Duque, F., Oliveira, G., & Vicente, A. M. (2016) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000159 · Cited by 12
Ma, X., & Qiu, S. (2019) · Journal of Neuroscience Research · doi:10.1002/jnr.24542 · Cited by 13
Mice lacking Astn2 have ASD-like behaviors and altered cerebellar circuit properties
Hanzel, M., Fernando, K., Maloney, S. E., Horn, Z., Gong, S., Mätlik, K., Zhao, J., Pasolli, H. A., Heissel, S., Dougherty, J. D., et al. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2405901121 · Cited by 11
Nomura, J., Zuko, A., Kishimoto, K., Mutsumine, H., Maegawa, H., Fukatsu, K., Nomura, Y., Liu, X., Nakai, N., Maeda, C., et al. (2025) · Cell Genomics · doi:10.1016/j.xgen.2025.100877 · Cited by 11
Molecular and Genetic Mechanisms in Autism Spectrum Disorder
Pruitt, A., Gupta, A. R., & Hoffman, E. J. (2025) · Annals of Neurology · doi:10.1002/ana.70013 · Cited by 11
Autism spectrum disorder model mice: Focus on copy number variation and epigenetics
Nakai, N., Otsuka, S., Myung, J., & Takumi, T. (2015) · Science China Life Sciences · doi:10.1007/s11427-015-4891-7 · Cited by 11
Pentapeptide sharing betweenCorynebacterium diphtheriatoxin and the human neural protein network
Bavaro, S. L., Calabrò, M., & Kanduc, D. (2010) · Immunopharmacology and Immunotoxicology · doi:10.3109/08923973.2010.518618 · Cited by 11
A Behavioral Evaluation of Sex Differences in a Mouse Model of Severe Neuronal Migration Disorder
Truong, D. T., Bonet, A., Rendall, A. R., Rosen, G. D., & FITCH, R. H. (2013) · PLoS ONE · doi:10.1371/journal.pone.0073144 · Cited by 12
Moon, S., Kim, Y. J., Hong, C. B., Kim, D. J., Lee, J., & Kim, B.-J. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.103 · Cited by 11
The Impact of Genomics on Pediatric Research and Medicine
Connolly, J. J., & Hakonarson, H. H. (2012) · PEDIATRICS · doi:10.1542/peds.2011-3636 · Cited by 11
Self-citationBustos, F. J., Pandian, S., Haensgen, H., Zhao, J.-P., Strouf, H., Heidenreich, M., Swiech, L. J., Deverman, B. E., Gradinaru, V., Zhang, F., et al. (2023) · BMC Biology · doi:10.1186/s12915-023-01714-y · Cited by 11
Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination
Amer‐Sarsour, F., Falik, D., Berdichevsky, Y., Kordonsky, A., Eid, S., Rabinski, T., Ishtayeh, H., Cohen‐Adiv, S., Braverman, I., Blumen, S. C., et al. (2024) · The EMBO Journal · doi:10.1038/s44318-023-00018-9 · Cited by 11
Ung, D. C., Pietrancosta, N., Badillo, E. B., Raux, B., Tapken, D., Zlatanovic, A., Doridant, A., Pode‐Shakked, B., Raas‐Rothschild, A., Elpeleg, O. N., et al. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02469-w · Cited by 11
Wozniak, D. F., Valnegri, P., Dearborn, J. T., Fowler, S. C., & Bonni, A. (2019) · Scientific Reports · doi:10.1038/s41598-019-40714-3 · Cited by 11
Talebizadeh, Z., Shah, A., & DiTacchio, L. (2019) · Autism Research · doi:10.1002/aur.2116 · Cited by 11
Evolutionary Personality Psychology
Lewis, D. M. G., Al-Shawaf, L., & Buss, D. M. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108264822.022 · Cited by 11
Immune Dysfunction in Autism Spectrum Disorder
Jonna, B., Thayne, L., Benson, M., Bray‐Ward, P., & Anthony, R. (2011) · InTech eBooks · doi:10.5772/22318 · Cited by 11
Nanomechanics of Ig-like domains of human contactin (BIG-2)
Mikulska‐Ruminska, K., Pepłowski, Ł., & Nowak, W. (2011) · Journal of Molecular Modeling · doi:10.1007/s00894-011-1010-y · Cited by 11
Ingold, E., Berg, C. V., Burckhardt, C. J., Lehnherr, A., Rieder, P., Keller, P., Stelzer, E. H. K., Greber, U. F., Neuhauss, S. C. F., & Gesemann, M. (2015) · Biology Open · doi:10.1242/bio.20148482 · Cited by 11
Female and Male Hacker Conferences Attendees
Schell, B. H., & Melnychuk, J. (2013) · IGI Global eBooks · doi:10.4018/978-1-61350-323-2.ch505 · Cited by 11
Hensel, C. H., Vanzo, R. J., Martin, M. M., Dixon, S., Lambert, C. G., Levy, B., Nelson, L. M., Peiffer, A. P., Ho, K. S., Rushton, P., et al. (2017) · PLoS Currents · doi:10.1371/currents.eogt.7d92ce775800ef3fbc72e3840fb1bc22 · Cited by 11
Anand, R., Stephanie, A., Ponath, G. D., Jordan, I., Nasir, M. I., & Susan, B. (2011) · InTech eBooks · doi:10.5772/20752 · Cited by 11
Anderson, M. P. (2018) · Wiley eBooks · doi:10.1002/9781119013112.ch40 · 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
Genes, cognition, and social behavior: Next steps for foundations and researchers
Lupia, A. (2011) · Politics and the Life Sciences · doi:10.1017/s0730938400014052 · Cited by 10
Ebner, F. A., Sailer, C., Eichbichler, D., Jansen, J., Sladewska-Marquardt, A., Stengel, F., & Scheffner, M. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.ra120.015603 · Cited by 10
Approach–Avoidance Theories of Personality
Corr, P. J., & Krupıć, D. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108264822.025 · Cited by 12
Li, J., Li, J., Glessner, J., Yang, J., March, M., Kao, C., Bradfield, J. P., Li, J., Mentch, F. D., Qu, H., et al. (2022) · Arthritis & Rheumatology · doi:10.1002/art.42129 · Cited by 10
Self-citationCellular computation and cognition
Fitch, W. T. (2023) · Frontiers in Computational Neuroscience · doi:10.3389/fncom.2023.1107876 · Cited by 10
A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity
Soueid, J., Hamzé, Z., Bedran, J., Chahrour, M. H., & Boustany, R. (2023) · Translational Psychiatry · doi:10.1038/s41398-023-02702-0 · Cited by 10
Amplification ratio control system for copy number variation genotyping
Guthrie, P. A. I., Gaunt, T. R., Abdollahi, M. R., Rodrı́guez, S., Lawlor, D. A., Smith, G. D., & Day, I. N. M. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr046 · Cited by 10
Firouzabadi, S. G., Vameghi, R., Kariminejad, R., Darvish, H., Banihashemi, S., Moghadam, M. F., Jamali, P., Tehrani, H. F. M., Dehghani, H., Raeisoon, M. R., et al. (2016) · PubMed · Cited by 10
Ashitha, S. N. M., & Ramachandra, N. B. (2020) · Neuroscience · doi:10.1016/j.neuroscience.2020.04.051 · Cited by 10
Bai, H., He, Y., Ding, Y., Chu, Q., Lian, L., Heifetz, E. M., Yang, N., Cheng, H. H., Zhang, H., Chen, J., et al. (2020) · BMC Genetics · doi:10.1186/s12863-020-00884-w · Cited by 10
Self-citationŚledziowska, M., Kalbassi, S., & Baudouin, S. J. (2020) · eNeuro · doi:10.1523/eneuro.0124-20.2020 · Cited by 10
Super‐variants identification for brain connectivity
Li, T., Hu, J., Wang, S., & Zhang, H. (2020) · Human Brain Mapping · doi:10.1002/hbm.25294 · Cited by 10
Self-citationGenetic screening reveals a link between Wnt signaling and antitubulin drugs
Khan, A. H., Bloom, J. S., Faridmoayer, E., & Smith, D. (2015) · The Pharmacogenomics Journal · doi:10.1038/tpj.2015.50 · Cited by 10
Autisme, génétique et anomalies de la fonction synaptique
Perche, O., Laumonnier, F., Baala, L., Ardourel, M., Menuet, A., Robin, V., Mortaud, S., Montécot, C., Richard, O., Pichon, J., et al. (2010) · Pathologie Biologie · doi:10.1016/j.patbio.2009.12.005 · Cited by 11
Gene-Rich Large Deletions Are Overrepresented in POAG Patients of Indian and Caucasian Origins
Kaurani, L., Vishal, M., Kumar, D., Sharma, A., Mehani, B., Sharma, C., Chakraborty, S., Jha, P., Ray, J., Sen, A., et al. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14339 · Cited by 10
A genome-wide detection of copy number variation using SNP genotyping arrays in Beijing-You chickens
Zhou, W. Y., Liu, R., Zhang, J., Zheng, M., Li, P., Chang, G., Wen, J., & Zhao, G. (2014) · Genetica · doi:10.1007/s10709-014-9788-z · Cited by 10
famCNV: copy number variant association for quantitative traits in families
Eleftherohorinou, H., Andersson‐Assarsson, J. C., Walters, R. G., Moustafa, J. S. E.-S., Coin, L., Jacobson, P., Carlsson, L. M. S., Blakemore, A. I. F., Froguel, P., Walley, A. J., et al. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr264 · Cited by 10
[Mapping genes related to early onset major depressive disorder in Dagestan genetic isolates].
Bulayeva, K., Lencz, T., Glatt, S. J., Takumi, T., Gurgenova, F., Kawakami, H., & Bulayev, O. A. (2012) · PubMed · Cited by 10
Freitag, C. M., Lempp, T., Nguyen, T. T., Jacob, C., Weißflog, L., Romanos, M., Renner, T., Walitza, S., Warnke, A., Rujescu, D., et al. (2016) · Journal of Neural Transmission · doi:10.1007/s00702-016-1553-2 · Cited by 10
Zheng, L., Xu, J., Li, J.-C., Wang, D., An, Q., Lin-na, X., Ma, Y., Wang, J., Peng, S., Lei, C., et al. (2018) · Gene · doi:10.1016/j.gene.2018.12.019 · Cited by 10
Integrative DNA copy number detection and genotyping from sequencing and array-based platforms
Zhou, Z., Wang, W., Wang, L., & Zhang, N. R. (2018) · Bioinformatics · doi:10.1093/bioinformatics/bty104 · Cited by 11
Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders
Bauleo, A., Montesanto, A., Pace, V., Brando, R., Stefano, L. D., Puntorieri, D., Cento, L., Loddo, S., Calacci, C., Novelli, A., et al. (2021) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000296 · Cited by 10
Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis
Lee, J., Son, M. J., Son, C. Y., Jeong, G. H., Lee, K. H., Lee, K. S., Ko, Y., Kim, J. Y., Lee, J. Y., Raduà, J., et al. (2020) · Brain Sciences · doi:10.3390/brainsci10100692 · Cited by 10
Fan, X., Qian, Q., Li, W., Liu, T., Zeng, C., Jia, P., Lin, H., Gao, X., Li, J., Xia, M., et al. (2025) · Genome Research · doi:10.1101/gr.280155.124 · Cited by 10
Neurexin1α knockout in rats causes aberrant social behaviour: relevance for autism and schizophrenia
Achterberg, E. J. M., Biemans, B., & Vanderschuren, L. J. M. J. (2025) · Psychopharmacology · doi:10.1007/s00213-024-06559-z · Cited by 9
“Of these, the neurexin-1 (nrxn1) gene has been linked directly to ASD and SCZ (Kim et al. 2008; Rujescu et al. 2009, Glessner et al. 2009; Ching et al. 2010; Gauthier et al. 2011).”
Dongdong, Z., Huo, Y., Zheng, N., Zhu, X., Yang, D., Zhou, Y., Wang, S., Jiang, Y., Wu, Y., & Zhang, Y. (2025) · PLoS Biology · doi:10.1371/journal.pbio.3003047 · Cited by 10
Faber-Hammond, J. J., Bezault, É., Lunt, D. H., Joyce, D. A., & Renn, S. C. P. (2019) · Genome Biology and Evolution · doi:10.1093/gbe/evz185 · Cited by 9
Dattilo, V., Ulivi, S., Minelli, A., Bianca, M. L., Giacopuzzi, E., Bortolomasi, M., Bignotti, S., Gennarelli, M., Gasparini, P., & Concas, M. P. (2022) · The World Journal of Biological Psychiatry · doi:10.1080/15622975.2022.2082523 · Cited by 9
ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies
Glessner, J., Li, J., Liu, Y., Khan, M., Chang, X., Abou‐Sleiman, P. M., & Hakonarson, H. H. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01222-7 · Cited by 9
Self-citationBarber, J. C. K., Huang, S., Bateman, M. S., & Collins, A. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34241 · Cited by 9
Candidate gene study of HOXB1 in autism spectrum disorder
Muscarella, L. A., Guarnieri, V., Sacco, R., Curatolo, P., Manzi, B., Alessandrelli, R., Giana, G., Militerni, R., Bravaccio, C., Lenti, C., et al. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-9 · Cited by 9
Ionotropic glutamate receptors (iGluRs) of the delta family (GluD1 and GluD2) and synaptogenesis
Khan, M. Z. (2016) · Alexandria Journal of Medicine · doi:10.1016/j.ajme.2016.09.003 · Cited by 9
Copy number variation related disease genes
Aouiche, C., Shang, X., & Chen, B. (2018) · Quantitative Biology · doi:10.1007/s40484-018-0137-6 · Cited by 9
Park, D. I. (2020) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2020.04.017 · Cited by 9
Deficits in higher visual area representations in a mouse model of Angelman syndrome
Townsend, L. B., Jones, K. A., Dorsett, C. R., Philpot, B. D., & Smith, S. L. (2020) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-020-09329-y · Cited by 9
An Overview of Genetic and Environmental Risk of Autism Spectrum Disorder
Ou, J., Liu, R., Shen, Y., Xia, K., & Zhao, J. (2019) · Global Clinical and Translational Research · doi:10.36316/gcatr.01.0005 · Cited by 10
Edsgärd, D., Scheel, M. M., Hansen, N. T., Ralfkiær, U., Jensen, T. S., Skakkebæk, N. E., Brunak, S., Gupta, R., Meyts, E. R., & Ottesen, A. M. (2011) · International Journal of Andrology · doi:10.1111/j.1365-2605.2011.01188.x · Cited by 9
Li, G., Li, B., Deng, M., Wen, F., Jiang, J., Tan, Y.-Q., Song, Y., Liu, Z., Zhang, C., Kobayashi, K., et al. (2010) · BioMed Research International · doi:10.1155/2011/318616 · Cited by 9
Persico, A. M. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-397267-5.00045-5 · Cited by 9
Chen, L., Wang, W., Cai, W., Song, W., Qian, W., & Lin, G. N. (2021) · Scientific Reports · doi:10.1038/s41598-021-87632-x · Cited by 9
Autism and Asperger's Syndrome
Ashwell, G. (2009) · InnovAiT Education and inspiration for general practice · doi:10.1093/innovait/inp150 · Cited by 9
South, S. C., Reichborn‐Kjennerud, T., Eaton, N. R., & Krueger, R. F. (2012) · Wiley eBooks · doi:10.1002/9781118133880.hop205001 · Cited by 9
Granata, P., Zito, A., Cocciadiferro, D., Novelli, A., Pessina, C., Mazza, T., Ferri, M., Piccinelli, P., Luoni, C., Termine, C., et al. (2024) · BMC Genomics · doi:10.1186/s12864-024-11077-5 · Cited by 8
Genetic Susceptibility in Tourette Syndrome
Fernandez, T. V., & State, M. W. (2013) · Oxford University Press eBooks · doi:10.1093/med/9780199796267.003.0007 · Cited by 8
PARK2 microdeletion in a multiplex family with autism spectrum disorder
Barone, R. M. E., Cirnigliaro, L., Saccuzzo, L., Valdese, S., Pettinato, F., Prato, A., Bernardini, L., Fichera, M., & Rizzo, R. (2022) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10246 · Cited by 9
Li, Y., Tan, Z.-N., Li, X., Ma, B., Adu‐Nti, F., Lv, X.-Q., Tian, Z., Yan, R., Man, H., & Ma, X. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02515-7 · Cited by 8
Sha, Z., Sun, K. Y., Jung, B., Barzilay, R., Moore, T. M., Almasy, L. A., Forsyth, J. K., Prem, S., Gandal, M. J., Seidlitz, J., et al. (2025) · American Journal of Psychiatry · doi:10.1176/appi.ajp.20240445 · Cited by 8
Self-citationGenome-wide association studies: a powerful tool for neurogenomics
Cowperthwaite, M. C., Mohanty, D., & Burnett, M. G. (2009) · Neurosurgical FOCUS · doi:10.3171/2010.10.focus09186 · Cited by 9
Mccallum, K. J., & Wang, J.-P. (2013) · Biostatistics · doi:10.1093/biostatistics/kxt003 · Cited by 8
Palumbo, O., Palumbo, P., Leone, M. P., Stallone, R., Palladino, T., Vendemiale, M., Palladino, S., Papadia, F., Carella, M., & Fischetto, R. (2016) · Molecular Syndromology · doi:10.1159/000448852 · Cited by 8
Wu, Z., Qin, J., You, Y., Ma, Y., Jia, M., Wang, L., Lu, T., Yue, W., Ruan, Y., Zhang, D., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-02348-1 · Cited by 8
Genetic Heterogeneity of Autism Spectrum Disorders
Swanwick, C. C., Chi, E. C., & Banerjee‐Basu, S. (2011) · InTech eBooks · doi:10.5772/19531 · Cited by 8
McNamara, G. I., & Isles, A. R. (2014) · Advances in genetics · doi:10.1016/b978-0-12-800222-3.00006-1 · Cited by 9
A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome
Silfhout, A. T. V., de Brouwer, A. P. M., de Leeuw, N., Obihara, C. C., Brunner, H. G., & Vries, B. B. A. D. (2011) · Molecular Syndromology · doi:10.1159/000336191 · Cited by 9
Yamasaki, M., Miyagawa, T., Toyoda, H., Khor, S., Koike, A., Nitta, A., Akiyama, K., Sasaki, T., Honda, Y., Honda, M., et al. (2014) · Journal of Human Genetics · doi:10.1038/jhg.2014.13 · Cited by 8
Identifying Potential Regions of Copy Number Variation for Bipolar Disorder
Chen, Y., Lu, R., Hung, H., & Kuo, P. (2014) · Microarrays · doi:10.3390/microarrays3010052 · Cited by 8
Metadata
- Authors
- Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., Zhang, H., Estes, A., Brune, C. W., Bradfield, J. P., Imielinski, M., Frackelton, E. C., Reichert, J., Crawford, E. L., Munson, J., Sleiman, P. M. A., Chiavacci, R., Annaiah, K., Thomas, K., Hou, C., Glaberson, W., Flory, J., Otieno, F., Garris, M., Soorya, L., Klei, L., Piven, J., Meyer, K. J., Anagnostou, E., Sakurai, T., Game, R. M., Rudd, D. S., Zurawiecki, D., McDougle, C. J., Davis, L. K., Miller, J., Posey, D. J., Michaels, S., Kolevzon, A., Silverman, J. M., Bernier, R., Levy, S. E., Schultz, R. T., Dawson, G., Owley, T., McMahon, W. M., Wassink, T. H., Sweeney, J. A., Nurnberger, J. I., Coon, H., Sutcliffe, J. S., Minshew, N. J., Grant, S. F. A., Bucan, M., Cook, E. H., Buxbaum, J. D., Devlin, B., Schellenberg, G. D., & Hakonarson, H.
- Affiliations
- Children's Hospital of Philadelphia (US)
- Icahn School of Medicine at Mount Sinai (US)
- University of Washington (US)
- University of Pittsburgh (US)
- University of Illinois Chicago (US)
- Vanderbilt University (US)
- University of North Carolina at Chapel Hill (US)
- University of Iowa (US)
- Indiana University Indianapolis (US)
- University of Utah (US)
- University of Pennsylvania (US)
- Corresponding author
- Schellenberg, Gerard D.
- Hakonarson, Hakon
- ORCID
- Glessner, Joseph T.
- Korvatska, Olena
- Zhang, Haitao
- Estes, Annette
- Imielinski, Marcin
- Munson, Jeffrey
- Thomas, Kelly
- Glaberson, Wendy
- Soorya, Latha
- Klei, Lambertus
- Piven, Joseph
- Meyer, Kacie J.
- Anagnostou, Evdokia
- Rudd, Danielle S.
- McDougle, Christopher J.
- Davis, Lea K.
- Kolevzon, Alexander
- Bernier, Raphael
- Levy, Susan E.
- Schultz, Robert T.
- Wassink, Thomas H.
- Sweeney, John A.
- Coon, Hilary
- Sutcliffe, James S.
- Minshew, Nancy J.
- Grant, Struan F. A.
- Cook, Edwin H.
- Buxbaum, Joseph D.
- Devlin, Bernie
- Schellenberg, Gerard D.
- Hakonarson, Hakon
- Venue
- Nature
- Published
- 2009-04-28
- Volume
- 459
- Issue
- 7246
- Pages
- 569-573
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2925224
- OpenAlex
- W2073062083
- Cited by
- 1,421
- References
- 32
- Citations by year
- 2026: 27 · 2025: 35 · 2024: 36 · 2023: 45 · 2022: 53 · 2021: 43 · 2020: 118 · 2019: 67 · 2018: 56 · 2017: 70 · 2016: 74 · 2015: 91 · 2014: 125 · 2013: 128 · 2012: 137
- FWCI
- 72.23
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion, public-domain)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Funders
- Autism Speaks
- U.S. Department of Veterans Affairs
- Children's Hospital of Philadelphia (UL1-RR-024134)
- Vanderbilt University
- University of Pennsylvania
- University of Washington
- University of Pittsburgh
- Health Research Board
- Cotswold Foundation
- University of Illinois at Urbana-Champaign
- University of North Carolina at Chapel Hill
- Vanderbilt Kennedy Center, Vanderbilt University Medical Center
- Medical Research Council
- National Institute of Mental Health (R01MH061009, U24MH081810, MH0666730, U54MH066673, MH69359, U10MH66766-02S1, R01MH069359, U10MH066766, MH 64547, R01MH057881, MH061009, R01MH064547)
- National Institute of General Medical Sciences (T32GM008629)
- National Institute of Neurological Disorders and Stroke (NS049261, R01NS049261)
- National Center for Research Resources (UL1-RR024134-03, UL1RR024134, M01RR000064)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD055751, P50HD055782, P01HD035476, HD35476, HD055782-01, HD055751, U19HD035476)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- 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
- Keywords
- autism spectrum disorder, copy number variation, genetic susceptibility, neuronal cell adhesion molecule, cadherins, ubiquitin pathway, neuroligin-1, ASTN2, UBE3A, PARK2, single nucleotide polymorphisms, neurodevelopmental disorders, gene-environment interaction
- MeSH terms
- Autistic Disorder, Europe, Genotype, Humans, Neurons, Genetic Variation, Reproducibility of Results, Cohort Studies, Cell Adhesion Molecules, Neuronal, Genome, Human, Case-Control Studies, Polymerase Chain Reaction, Gene Dosage, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Ubiquitin, Gene Regulatory Networks
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 ›
Are you an author, or do you see a problem with this page? Request a review
