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
“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
“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
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
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 801–900 of 1,000
Bai, H., Sun, Y., Liu, N., Liu, Y., Xue, F., Li, Y., Xu, S., Ni, A., Ye, J., Chen, Y., et al. (2018) · Animal Genetics · doi:10.1111/age.12652 · Cited by 18
Yamasaki, M., Makino, T., Khor, S., Toyoda, H., Miyagawa, T., Liu, X., Kuwabara, H., Kano, Y., Shimada, T., Sugiyama, T., et al. (2020) · BMC Medical Genomics · doi:10.1186/s12920-020-0699-9 · Cited by 18
Hoover, A. H., Pavuluri, R., Shelkar, G. P., Dravid, S. M., Smith, Y., & Villalba, R. M. (2020) · The Journal of Comparative Neurology · doi:10.1002/cne.25051 · Cited by 21
Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome—Where Are We?
Levy, A. M., Paschou, P., & Tümer, Z. (2021) · Genes · doi:10.3390/genes12091321 · Cited by 18
Soysal, Y. D., Vermeesch, J. R., Davani, N. A., Hekimler, K., & İmirzalıoğlu, N. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34101 · Cited by 18
The use of stem cells to study autism spectrum disorder.
Ardhanareeswaran, K., Coppola, G., & Vaccarino, F. M. (2015) · Europe PMC (PubMed Central) · Cited by 18
Analysis of eighteen deletion breakpoints in the parkin gene
Asakawa, S., Hattori, N., Shimizu, A., Shimizu, Y., Minoshima, S., Mizuno, Y., & Shimizu, N. (2009) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2009.08.115 · Cited by 18
Papale, L. A., Madrid, A., Zhang, Q., Chen, K., Sak, L., Keleş, S., & Alisch, R. S. (2021) · Genome Research · doi:10.1101/gr.276137.121 · Cited by 18
Family-based genome-wide association study of autism spectrum disorder in middle eastern families
Al-Sarraj, Y., Al-Dous, E., Taha, R. Z., Ahram, D., Alshaban, F., Tolfat, M., El-Shanti, H., & Albagha, O. M. E. (2021) · Genes · doi:10.3390/genes12050761 · Cited by 17
Ubiquitin-Proteasome-Mediated Protein Degradation and Disorders of the Central Nervous System
Hegde, A. N., Timm, L. E., Sivley, C. J., Ramiyaramcharankarthic, S., Lowrimore, O. J., Hendrix, B. J., Grozdanov, T. G., & Anderson, W. J. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26030966 · Cited by 19
Nitric oxide pathway as a plausible therapeutic target in autism spectrum disorders
Mehta, R., Kuhad, A., & Bhandari, R. (2022) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2022.2100252 · Cited by 17
Lu, H. P., Zuo, L., Roddick, K. M., Zhang, P., Oku, S., Garden, J. F., Ge, Y., Bellefontaine, M., Delhaye, M., Brown, R. E., et al. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112714 · Cited by 22
Chang, X., Qu, H., Liu, Y., Glessner, J., & Hakonarson, H. H. (2023) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2023.09.550 · Cited by 17
Self-citationMapping mammalian synaptic connectivity
Yook, C., Druckmann, S., & Kim, J. (2013) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-013-1417-y · Cited by 17
Saadati, H. R., Wittig, M., Helbig, I., Häsler, R., Anderson, C. A., Mathew, C. G., Kupčinskas, L., Parkes, M., Karlsen, T. H., Rosenstiel, P. C., et al. (2016) · BMC Medical Genetics · doi:10.1186/s12881-016-0289-z · Cited by 17
Towards understanding the genetics of Autism
Ouhtit, A. (2016) · Frontiers in Bioscience-Elite · doi:10.2741/776 · Cited by 17
AL-Ayadhi, L. Y., Hashmi, J. A., Iqbal, M., Albalawi, A. M., Samman, M. I., Elamin, N. E., Bashir, S., & Basit, S. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2016.10.030 · Cited by 17
Chen, X., Feng, L., Cai, B., Chen, G., & Chen, G. (2017) · PubMed Central · Cited by 17
Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes
Zhang, S. Q., Fleischer, J. A., Al‐Kateb, H., Mito, Y., Amarillo, I. E., & Shinawi, M. S. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.103736 · Cited by 18
Denucci, B. L., de Lima, L. S., Mota, I. F. L., Azevedo, J. R. M., Veras, L. G., Bicca, J. V. M. L., Santana, B. D. M., Pinheiro, G. B., Coelho, G. G., & Mortari, M. R. (2021) · Reproductive Toxicology · doi:10.1016/j.reprotox.2021.10.010 · Cited by 20
Genome-Wide Association Study Identified Copy Number Variants Important for Appendicular Lean Mass
Ran, S., Liu, Y., Zhang, L., Pei, Y., Yang, T., Hai, R., Han, Y., Lin, Y., Tian, Q., & Deng, H. (2014) · PLoS ONE · doi:10.1371/journal.pone.0089776 · Cited by 17
Pei, Y., Zhang, L., Yang, T., Han, Y., Hai, R., Ran, S., Tian, Q., Shen, H., Li, J., Zhu, X.-Z., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0030860 · Cited by 17
Robinson, M. D., & Sedikides, C. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108264822.031 · Cited by 18
Kushima, I., Aleksić, B., Ito, Y., Nakamura, Y., Nakamura, K., Mori, N., Kikuchi, M., Inada, T., Kunugi, H., Nanko, S., et al. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2009.139 · Cited by 17
Rare copy number variants in patients with congenital conotruncal heart defects
Xie, H. M., Werner, P., Stambolian, D., Wilson, J., Hakonarson, H. H., White, P. S., Taylor, D. M., & Goldmuntz, E. (2017) · Birth Defects Research · doi:10.1002/bdra.23609 · Cited by 17
Self-citationA critical review of the impact of candidate copy number variants on autism spectrum disorder
Abedini, S. S., Akhavantabasi, S., Liang, Y., Heng, J. I., Alizadehsani, R., Dehzangi, A., Bauer, D. C., & Alinejad‐Rokny, H. (2024) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2024.108509 · Cited by 18
The NeuroDevNet Autism Spectrum Disorders Demonstration Project
Zwaigenbaum, L., Scherer, S. W., Szatmári, P., Fombonne, E. J., Bryson, S. E., Hyde, K. L., Anognostou, E., Brian, J. A., Evans, A. C., Hall, G. B. C., et al. (2011) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2011.02.003 · Cited by 18
Connolly, J. J., Glessner, J., Almoguera, B., Crosslin, D. R., Jarvik, G. P., Abou‐Sleiman, P. M., & Hakonarson, H. H. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00051 · Cited by 16
Self-citationEndometriosis Is Associated with Rare Copy Number Variants
Chettier, R., Ward, K. J., & Albertsen, H. (2014) · PLoS ONE · doi:10.1371/journal.pone.0103968 · Cited by 16
Zhang, C., Cai, H., Huang, J., & Song, Y. (2016) · BMC Bioinformatics · doi:10.1186/s12859-016-1239-7 · Cited by 16
Cell adhesion molecules and sleep
O’Callaghan, E. K., Roig, M. N. B., & Mongrain, V. (2016) · Neuroscience Research · doi:10.1016/j.neures.2016.11.001 · Cited by 18
Iris Garcia-martinez, A., Sánchez‐Mora, C., Artigas, M. S., Rovira, P., Pagerols, M., Montse Corrales, F., Calvo-Sánchez, E., Vanesa Richarte, B., Bustamante, M., Sunyer, J., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-05514-7 · Cited by 16
Wyatt, B. H., Raymond, T. O., Lansdon, L. A., Darbro, B. W., Murray, J. C., Manak, J. R., & DICKINSON, A. J. G. (2020) · genesis · doi:10.1002/dvg.23394 · Cited by 16
Shiota, Y., Hirosawa, T., Yoshimura, Y., Tanaka, S., Hasegawa, C., Iwasaki, S., An, K., Soma, D., Sano, M., Yokoyama, S., et al. (2021) · PLoS ONE · doi:10.1371/journal.pone.0260548 · Cited by 17
Masternak, M., Koch, A., Laulumaa, S., Tapken, D., Hollmann, M., Jørgensen, F. S., & Kastrup, J. S. (2022) · FEBS Journal · doi:10.1111/febs.16631 · Cited by 19
Lee, B., Cho, S., Shin, D. H., & Kim, H. (2010) · Genomics · doi:10.1016/j.ygeno.2010.11.001 · Cited by 16
Association of Copy Number Variations in Autism Spectrum Disorders: A Systematic Review
Şener, E. F. (2014) · Chinese Journal of Biology · doi:10.1155/2014/713109 · Cited by 19
Genetic testing for autism: recent advances and clinical implications
Miller, D. T. (2010) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.10.82 · Cited by 16
Neurexophilin 1 suppresses the proliferation of hematopoietic progenitor cells
Kinzfogl, J., Hangoc, G., & Broxmeyer, H. E. (2011) · Blood · doi:10.1182/blood-2010-12-325381 · Cited by 17
Copy number variation in bronchopulmonary dysplasia
Hoffmann, T. J., Shaw, G. M., Stevenson, D. K., Wang, H., Quaintance, C. C., Oehlert, J. W., Jelliffe‐Pawlowski, L. L., Gould, J. B., Witte, J. S., & O'Brodovich, H. M. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36659 · Cited by 16
Alonso, A., Julià, A., Tortosa, R., Canaleta, C., Cañete, J. D. D., Ballina, J., Balsa, A., Tornero, J., & Marsal, S. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-264 · Cited by 16
Genetic Causes of Autism Spectrum Disorders
Huguet, G., & Bourgeron, T. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800109-7.00002-9 · Cited by 17
Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment
Deutsch, S. I. (2011) · InTech eBooks · doi:10.5772/976 · Cited by 16
Environmental Enrichment Improves Behavioral Abnormalities in a Mouse Model of Angelman Syndrome
Jamal, I., Kumar, V., Vatsa, N., Singh, B. K., Shekhar, S., Sharma, A., & Jana, N. R. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-0080-3 · Cited by 16
Unraveling the Neurobiology of Sleep and Sleep Disorders Using Drosophila
Chakravarti, L. J., Moscato, E. H., & Kayser, M. S. (2016) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2016.07.010 · Cited by 18
Govaerts, L. C. P., Srebniak, M. I., Diderich, K. E. M., Joosten, M., Riedijk, S. R., Knapen, M. F. C. M., Go, A. T. J. I., Papatsonis, D. N. M., de Graaff, K., Toolenaar, T., et al. (2016) · Prenatal Diagnosis · doi:10.1002/pd.4979 · Cited by 16
Gui, A., Jones, E. J. H., Wong, C. C. Y., Meaburn, E. L., Xia, B., Pasco, G., Lloyd‐Fox, S., Charman, T., Bolton, P., & Johnson, M. H. (2020) · Infant Behavior and Development · doi:10.1016/j.infbeh.2019.101409 · Cited by 17
Sequence analysis of 17NRXN1deletions
Hoeffding, L. K., Hansen, T. F., Ingason, A., Doung, L., Thygesen, J. H., Møller, R. S., Tommerup, N., Kirov, G., Rujescu, D., Larsen, L. A., et al. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32204 · Cited by 15
Śledziowska, M., Galloway, J., & Baudouin, S. J. (2019) · Neuroscience · doi:10.1016/j.neuroscience.2019.10.011 · Cited by 16
Glessner, J., Khan, M. E., Chang, X., Liu, Y., Otieno, F. G., Lemma, M., Slaby, I., Hain, H. S., Mentch, F. D., Li, J., et al. (2023) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-023-09483-z · Cited by 15
Self-citationMatrone, C., & Ferretti, G. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105338 · Cited by 15
Willemsen, M. H., de Leeuw, N., de Brouwer, A. P. M., Pfundt, R., Hehir‐Kwa, J. Y., Yntema, H. G., Nillesen, W. M., Vries, B. B. A. D., van Bokhoven, H., & Kleefstra, T. (2012) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2012.05.001 · Cited by 16
The E3 ligase ube3a is required for learning in Drosophila melanogaster
Chakraborty, M., Paul, B. K., Nayak, T., Das, A., Jana, N. R., & Bhutani, S. (2015) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2015.04.110 · Cited by 15
Dong, S., Yang, J., Yu, W., Kota, P., Xia, X., & Xu, H. (2012) · PubMed Central · Cited by 15
Genetic analysis of very obese children with autism spectrum disorder
Cortes, H. D., & Wevrick, R. (2018) · Molecular Genetics and Genomics · doi:10.1007/s00438-018-1418-5 · Cited by 15
Optimal time lags from causal prediction model help stratify and forecast nervous system pathology
Bermperidis, T., Rai, R., Ryu, J., Zanotto, D., Agrawal, S. K., Lalwani, A. K., & Torres, E. B. (2021) · Scientific Reports · doi:10.1038/s41598-021-00156-2 · Cited by 15
Liu, Y., Qu, H., Chang, X., Tian, L., Glessner, J., Abou‐Sleiman, P. M., & Hakonarson, H. H. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2022.797329 · Cited by 16
Self-citationCopy Number Variation at Chromosome 5q21.2 Is Associated With Intraocular Pressure
Nag, A., Venturini, C., Hysi, P. G., Arno, M. J., Aldecoa-Otalora, E., MacGregor, S., Hewitt, A. W., Young, T. L., Mitchell, P., Viswanathan, A. C., et al. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-11952 · Cited by 18
Copy Number Variations in Alternative Splicing Gene Networks Impact Lifespan
Glessner, J., Smith, A. V., Panossian, S., Kim, C., Takahashi, N., Thomas, K., Wang, F., Seidler, K., Harris, T. B., Launer, L. J., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0053846 · Cited by 15
Self-citationEtiology of Autism Spectrum Disorder: A Genomics Perspective
Connolly, J. J., & Hakonarson, H. H. (2014) · Current Psychiatry Reports · doi:10.1007/s11920-014-0501-9 · Cited by 18
Self-citationThe quest for genetic risk factors for Crohn's disease in the post-GWAS era
Fransén, K., Mitrovič, M., van Diemen, C. C., & Weersma, R. K. (2011) · Genome Medicine · doi:10.1186/gm227 · Cited by 15
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a
Sato, M. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00062 · Cited by 18
Liu, Y., Li, Y., March, M., Nguyen, K., Xu, K., Wang, F., Guo, Y., Keating, B. J., Glessner, J., Li, J., et al. (2015) · Human Genomics · doi:10.1186/s40246-015-0053-z · Cited by 17
Self-citationEvaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing
Ezewudo, M. N., & Zwick, M. E. (2013) · Current Psychiatry Reports · doi:10.1007/s11920-013-0349-4 · Cited by 16
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder
Cucinotta, F., Lintas, C., Tomaiuolo, P., Baccarin, M., Picinelli, C., Castronovo, P., Sacco, R., Piras, I. S., Turriziani, L., Ricciardello, A., et al. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2182 · Cited by 14
Mariano, V., Kanellopoulos, A. K., Ricci, C., Di Marino, D., Borrie, S. C., Dupraz, S., Bradke, F., Achsel, T., Legius, E., Odent, S., et al. (2024) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.08.027 · Cited by 14
Roy, B., Amemasor, E., Hussain, S., & Castro, K. (2023) · Diseases · doi:10.3390/diseases12010007 · Cited by 15
Ramirez, C. G., Salvador, S. G., Patel, R. K. R., Clark, S., Miller, N. W., James, L. M., Ringelberg, N. W., Simon, J. M., Bennett, J., Amaral, D. G., et al. (2024) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2024.1410791 · Cited by 14
Wang, C.-Y., & Wang, H. (2024) · All Life · doi:10.1080/26895293.2024.2415057 · Cited by 15
Kopp, N., Climer, S., & Dougherty, J. D. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00301 · Cited by 15
Dennis, K. E., & Valentine, W. M. (2015) · Chemical Research in Toxicology · doi:10.1021/tx500450x · Cited by 14
Bagshaw, A., Horwood, L. J., Liu, Y., Fergusson, D. M., Sullivan, P. F., & Kennedy, M. A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0055208 · Cited by 14
Imitola, J., Walleigh, D. J., Anderson, C. E., Jethva, R., Carvalho, K. S., Legido, A., & Khurana, D. S. (2014) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2014.04.027 · Cited by 14
Planning a genome-wide association study: Points to consider
Hakonarson, H. H., & Grant, S. F. A. (2011) · Annals of Medicine · doi:10.3109/07853890.2011.573803 · Cited by 14
Self-citationCopy number variation findings among 50 children and adolescents with autism spectrum disorder
Sorte, H. S., Gjevik, E., Sponheim, E., Eiklid, K. L., & Rødningen, O. K. (2012) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32835d718b · Cited by 17
Shen, X., Yeung, H. T., & Lai, K. (2018) · Developmental Neurobiology · doi:10.1002/dneu.22644 · Cited by 14
Ito, T., Yoshida, M., Aida, T., Kushima, I., Hiramatsu, Y., Ono, M., Yoshimi, A., Tanaka, K., Ozaki, N., & Noda, Y. (2023) · Journal of Neurochemistry · doi:10.1111/jnc.15790 · Cited by 14
Bendjilali, N., Kim, H., Weinsheimer, S., Guo, D. E., Kwok, P., Zaroff, J. G., Sidney, S., Lawton, M. T., McCulloch, C. E., Koeleman, B. P. C., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0071434 · Cited by 14
MACPF/CDC proteins in development: Insights from Drosophila torso-like
Johnson, T. K., Henstridge, M. A., & Warr, C. G. (2017) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2017.05.003 · Cited by 14
Abrahams, B. S., & Geschwind, D. H. (2009) · Springer eBooks · doi:10.1007/978-3-540-37654-5_29 · Cited by 15
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Correia, C., Conceição, I. C., Oliveira, B., Coelho, J., Sousa, I., Sequeira, A. F., Almeida, J., Café, C., Duque, F., Mouga, S., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-28 · Cited by 15
Zhang, L., Liu, L., Wen, Y. F., Ma, M., Cheng, S., Yang, J., Li, P., Cheng, B., Du, Y., Liang, X., et al. (2018) · Autism Research · doi:10.1002/aur.2001 · Cited by 15
Strength of functional signature correlates with effect size in autism
Ballouz, S., & Gillis, J. (2017) · Genome Medicine · doi:10.1186/s13073-017-0455-8 · Cited by 14
Aḥmad, A., Nkosi, D., & Iqbal, M. A. (2023) · Genes · doi:10.3390/genes14030600 · Cited by 13
The genetic landscape of autism spectrum disorder in the Middle Eastern population
Al-Sarraj, Y. A., Taha, R. Z., Al‐Dous, E., Ahram, D. F., Abbasi, S., Abuazab, E., Shaath, H., Habbab, W., Errafii, K., Bejaoui, Y., et al. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1363849 · Cited by 14
CNTN4 modulates neural elongation through interplay with APP
Bamford, R. A., Zuko, A., Eve, M., Sprengers, J. J., Post, H., Taggenbrock, R. L. R. E., Fäβler, D., Mehr, A., Jones, O. J. R., Kudzinskas, A., et al. (2024) · Open Biology · doi:10.1098/rsob.240018 · Cited by 13
Targeted Pharmacogenetic Analysis of Antipsychotic Response in the CATIE Study
Liu, Q., Jamba, M., Patrick, C., Padmanabhan, S., & Brennan, M. D. (2012) · Pharmacogenomics · doi:10.2217/pgs.12.105 · Cited by 14
Development of Personality across the Life Span
Atherton, O. E., Donnellan, M. B., & Robins, R. W. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108264822.017 · Cited by 15
Whole-genome sequencing reveals the genetic mechanisms of domestication in classical inbred mice
Liu, M., Yu, C., Zhang, Z., Song, M., Sun, X., Piálek, J., Jacob, J., Lu, J., Cong, L., Zhang, H., et al. (2022) · Genome biology · doi:10.1186/s13059-022-02772-1 · Cited by 15
Self-citationErickson, R. P. (2016) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2015.12.002 · Cited by 13
Anatomy and Cell Biology of Autism Spectrum Disorder: Lessons from Human Genetics
Kleijer, K. T. E., Huguet, G., Tastet, J., Bourgeron, T., & Burbach, J. P. H. (2017) · Advances in anatomy, embryology and cell biology · doi:10.1007/978-3-319-52498-6_1 · Cited by 13
Zhang, Z., & Chen, G. (2020) · The Journal of Comparative Neurology · doi:10.1002/cne.24921 · Cited by 13
Crespi, B. J. (2011) · Springer eBooks · doi:10.1007/978-94-007-0837-2_7 · Cited by 13
Burch, G. S. J., & Anderson, N. R. (2012) · Cambridge University Press eBooks · doi:10.1017/cbo9780511596544.046 · Cited by 13
Kumasaka, N., Fujisawa, H., Hosono, N., Okada, Y., Takahashi, A., Nakamura, Y., Kubo, M., & Kamatani, N. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20633 · Cited by 13
Pharmacogenetics – genomics and personalized psychiatry
Möller, H. ‐., & Rujescu, D. (2010) · European Psychiatry · doi:10.1016/j.eurpsy.2009.12.015 · Cited by 14
Michaelovsky, E., Carmel, M., Frisch, A., Salmon‐Divon, M., Pasmanik, M., Weizman, A., & Gothelf, D. (2019) · Translational Psychiatry · doi:10.1038/s41398-018-0354-9 · Cited by 17
Female and Male Hacker Conferences Attendees
Schell, B. H., & Melnychuk, J. (2010) · IGI Global eBooks · doi:10.4018/978-1-61692-805-6.ch008 · Cited by 13
The autism risk gene CNTN4 modulates dendritic spine formation
Zhao, R., Zhu, T., Liu, Q., Tian, Q., Wang, M., Chen, J., Tong, D., Yu, B., Guo, H., Xia, K., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab233 · Cited by 12
Sandoval-Talamantes, A. K., Mori, M. Á., Santos‐Simarro, F., García‐Miñáur, S., Mansilla, E., Tenorio, J. A., Peña, C., Adán, C., Fernández‐Elvira, M., Rueda, I., et al. (2023) · Genes · doi:10.3390/genes14040820 · Cited by 12
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
