The DOI matches its Crossref record; 60 of the 60 references it cites were found in a registry or an index.
Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes
Open accessAbstract
The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important role for structural variation in a subset of cases, but has lacked the resolution necessary to move beyond detection of large regions of potential interest to identification of individual genes. To pinpoint genes likely to contribute to ASD etiology, we performed high density genotyping in 912 multiplex families from the Autism Genetics Resource Exchange (AGRE) collection and contrasted results to those obtained for 1,488 healthy controls. Through prioritization of exonic deletions (eDels), exonic duplications (eDups), and whole gene duplication events (gDups), we identified more than 150 loci harboring rare variants in multiple unrelated probands, but no controls. Importantly, 27 of these were confirmed on examination of an independent replication cohort comprised of 859 cases and an additional 1,051 controls. Rare variants at known loci, including exonic deletions at NRXN1 and whole gene duplications encompassing UBE3A and several other genes in the 15q11-q13 region, were observed in the course of these analyses. Strong support was likewise observed for previously unreported genes such as BZRAP1, an adaptor molecule known to regulate synaptic transmission, with eDels or eDups observed in twelve unrelated cases but no controls (p = 2.3x10(-5)). Less is known about MDGA2, likewise observed to be case-specific (p = 1.3x10(-4)). But, it is notable that the encoded protein shows an unexpectedly high similarity to Contactin 4 (BLAST E-value = 3x10(-39)), which has also been linked to disease. That hundreds of distinct rare variants were each seen only once further highlights complexity in the ASDs and points to the continued need for larger cohorts.
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?
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 Bucan 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 Bucan et al., 2009
In the citing paper
“they usually contain multiple genes (with a few exceptions (Bucan et al., 2009; Talkowski et al., 2011))”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Bucan et al., 2009
In the citing paper
“as well as Neurexin 1 CNV, which are observed in about 50% of unaffected carriers [36], and observed across several neurodevelopmental disorders (Table 1).”
From Genetics of autism spectrum disorders (2011) · cites this paper as [36]
In the citing paper
“So all such CNV are not necessarily causal or fully penetrant [36].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [36]
In the citing paper
“First, de novo CNV are observed in 5–10% of ASD probands, but they are also observed in 1–2% of unaffected controls.”
From Genetics of autism spectrum disorders (2011) · cites this paper as [36]
In the citing paper
“These results replicate and extend earlier composite pathway analysis of putative ASD susceptibility genes compiled from the literature [68], and CNV pathway analysis in the Autism Genetic Resource Exchange (AGRE) and other cohorts [32, 36].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [36]
In the citing paper
“For example, although rare de novo CNV are considered causal mutations, it is clear that mutations may have intermediate effect sizes and variable penetrance, as mentioned above [36, 42] so such mutations must be interacting with other factors.”
From Genetics of autism spectrum disorders (2011) · cites this paper as [36]
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
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
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-citationAutism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
Self-citationMutations 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 7×
“Sensitivity compares favorably with previous BAC array-based [9,21] and SNP-based methods [8], in Author Summary”
BackgroundResultInfluentialRare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800
Self-citationWang, 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
Identification and characterization of the tuberous sclerosis gene on chromosome 16
(1993) · Cell · doi:10.1016/0092-8674(93)90618-z · Cited by 1,645
Flagged first, then by citations
Cited by
Sorted by citations
Items 301–400 of 424
A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data
Nishiyama, T., Takahashi, K., Tango, T., Pinto, D., Scherer, S. W., Takami, S., & Kishino, H. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-205 · Cited by 7
Genetic risk in autism: new associations and clinical testing
Freitag, C. M. (2011) · Expert Opinion on Medical Diagnostics · doi:10.1517/17530059.2011.579101 · Cited by 7
Unravelling the genetics of autism spectrum disorders
Sousa, I., Holt, R., Pagnamenta, A. T., & Monaco, A. P. (2011) · Cambridge University Press eBooks · doi:10.1017/cbo9780511973918.005 · Cited by 7
A backward procedure for change‐point detection with applications to copy number variation detection
Shin, S. J., Wu, Y., & Hao, N. (2020) · Canadian Journal of Statistics · doi:10.1002/cjs.11535 · Cited by 8
Contrasting synaptic roles of MDGA1 and MDGA2Preprint
Bemben, M. A., Sandoval, M. A., Le, A. A., Won, S., Chau, V. N., Lauterborn, J. C., Incontro, S., Li, K. H., Burlingame, A. L., Roche, K. W., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.05.25.542333 · Cited by 10
Aerts, T., Boonen, A., Geenen, L., Stulens, A., Masin, L., Pancho, A., Francis, A., Pepermans, E., Baggerman, G., Roy, F. M. V., et al. (2024) · Open Biology · doi:10.1098/rsob.240113 · Cited by 6
Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation
Zamariolli, M., Di‐Battista, A., Moysés‐Oliveira, M., de Mello, C. B., Ramos, M. A. D. P., Liehr, T., & Melaragno, M. I. (2020) · Cytogenetic and Genome Research · doi:10.1159/000508820 · Cited by 6
The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism
Vanzo, R. J., Prasad, A., Staunch, L., Hensel, C. H., Serrano, M. A., Wassman, E. R., Kaplun, A., Grandin, T., & Boles, R. G. (2020) · Journal of Personalized Medicine · doi:10.3390/jpm11010021 · Cited by 6
Impact of RIM-BPs in neuronal vesicles release
Gao, T., Zhang, Z., Yang, Y., Zhang, H., Li, N., & Liu, B. (2021) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2021.02.012 · Cited by 6
Autism: genetics, environmental stressors, maternal immune activation, and the male bias in autism
Otaru, S., & Lawrence, D. A. (2022) · Exploration of Neuroprotective Therapy · doi:10.37349/ent.2022.00025 · Cited by 7
Early postnatal development of the MDGA2+/- mouse model of synaptic dysfunction
Fertan, E., Wong, A. A., Montbrun, T. G.-D., Purdon, M. K., Roddick, K. M., Yamamoto, T., & Brown, R. E. (2023) · Behavioural Brain Research · doi:10.1016/j.bbr.2023.114590 · Cited by 8
Pembrey, M. E., Golding, J., & Connelly, J. J. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.262 · Cited by 6
Vojinović, D., Brison, N., Ahmad, S., Noens, I. L. J., Pappa, I., Karssen, L. C., Tiemeier, H. W., van Duijn, C. M., Peeters, H., & Amin, N. (2017) · European Journal of Human Genetics · doi:10.1038/ejhg.2017.82 · Cited by 6
Syndromes Hidden within the 16p11.2 Deletion Region
Poot, M. (2018) · Molecular Syndromology · doi:10.1159/000490845 · Cited by 6
Rizzo, A., Alfei, E., Zibordi, F., Saletti, V., Zorzi, G. S., Freri, E., Estienne, M., Girgenti, V., D’Arrigo, S., Esposito, S., et al. (2018) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32649 · Cited by 6
Autism: The Ups and Downs of Neuroligin
Geschwind, D. H. (2009) · Biological Psychiatry · doi:10.1016/j.biopsych.2009.09.022 · Cited by 6
Self-citationDistinct Alterations in Dendritic Spine Morphology in the Absence of β-Neurexins
Mohrmann, L., Seebach, J., Missler, M., & Rohlmann, A. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25021285 · Cited by 4
Stem Cells to Inform the Neurobiology of Mental Illness
Johnstone, M., Hillary, R. F., & Clair, D. S. (2018) · Current topics in behavioral neurosciences · doi:10.1007/7854_2018_57 · Cited by 5
Sundberg, M., & Şahin, M. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-45493-7_1 · Cited by 5
The Genetics of Autism Spectrum Disorders
John, J. M., & Hakonarso, H. (2011) · InTech eBooks · doi:10.5772/10601 · Cited by 5
Genetics and Epigenetics of Autism Spectrum Disorders
Bourgeron, T. (2012) · Research and perspectives in neurosciences · doi:10.1007/978-3-642-27913-3_10 · Cited by 5
Genome-wide molecular effects of the neuropsychiatric 16p11 CNVs in an iPSC-to-iN neuronal modelPreprint
Ward, T. R., Zhang, X., Leung, L. C., Zhou, B., Muench, K. L., Roth, J. G., Khechaduri, A., Plastini, M. J., Charlton, C. A., Pattni, R., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.02.09.940965 · Cited by 4
Polygenic profiles define aspects of clinical heterogeneity in ADHDPreprint
Schork, A., LaBianca, S., Brickell, I., Helenius, D., Loughnan, R., Mefford, J., Palmer, C., Walker, R. L., Gådin, J., Krebs, M., et al. (2021) · medRxiv · doi:10.1101/2021.07.13.21260299 · Cited by 4
Self-citationMDGAs as synaptic suppressors with implications in neurodevelopmental disorders
Ko, J. (2025) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2025.103130 · Cited by 5
Lee, K. A. V., & Whitman, M. C. (2026) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.67.8.21 · Cited by 4
Next Generation Sequencing in Autism Spectrum Disorder
Yin, J., Oleson, D. S., & Schaaf, C. P. (2018) · OBM Genetics · doi:10.21926/obm.genet.1801014 · Cited by 5
Pentjuss, A., Rubenis, O., Bauze, D., Aprupe, L., & Lāce, B. (2013) · Biosystems and Information technology · doi:10.11592/bit.131102 · Cited by 5
Genetische Analysen zur Identifizierung molekularer Mechanismen bei Autismus-Spektrum-Störungen
Chiocchetti, A. G., & Klauck, S. M. (2011) · Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie · doi:10.1024/1422-4917/a000096 · Cited by 4
Genetic pathways to autism spectrum disorders
Mehta, S., & Nurmi, E. L. (2013) · Neuropsychiatry · doi:10.2217/npy.13.16 · Cited by 5
Advances and Challenges in the Genetics of Autism
Campbell, D. B. (2010) · FOCUS The Journal of Lifelong Learning in Psychiatry · doi:10.1176/foc.8.3.foc339 · Cited by 4
Neuroimaging of autism spectrum disorders
Herrington, J. D., & Schultz, R. T. (2010) · Cambridge University Press eBooks · doi:10.1017/cbo9780511782091.037 · Cited by 4
Alteraciones de la sinaptogénesis en el autismo. Implicaciones etiopatogénicas y terapéuticas
Peñas, J. J. G., Carral, J. D., & Pereira-Bezanilla, E. (2012) · Revista de Neurología · doi:10.33588/rn.54s01.2011708 · Cited by 5
Walsh, R. M., Crabtree, G. W., Kalpana, K., Jubierre, L., Koo, S. Y., Ciceri, G., Gogos, J. A., Kruglikov, I., & Studer, L. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.11.26.624368 · Cited by 4
Biologically constrained behavioral genetics research
Hammock, E. A. D. (2011) · Politics and the Life Sciences · doi:10.1017/s0730938400014076 · Cited by 3
Kim, H., Jeon, Y., Kim, S., Guo, Y., Kim, D., Jang, G., Brasch, J., Um, J. W., & Ko, J. (2025) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2025.102772 · Cited by 3
Wu, Q., Yu, B., Chen, Y., Shao, Y., Zhang, J., Zhong, Q., Peng, X., Yang, H. S., Hu, X., Chen, B., et al. (2011) · Clinical Rheumatology · doi:10.1007/s10067-011-1794-2 · Cited by 3
Genes and the long and winding road to cortical construction and cognition
Ross, M. E., & Geschwind, D. H. (2010) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.03.004 · Cited by 3
Self-citationYeh, E., & Weiss, L. A. (2016) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2016.10.007 · Cited by 4
Inheritance Model Introduces Differential Bias in CNV Calls Between Parents and Offspring
Kim, S., Millard, S. P., Yu, C., Leong, L., Radant, A. D., Dobie, D. J., Tsuang, D. W., & Wijsman, E. M. (2012) · Genetic Epidemiology · doi:10.1002/gepi.21643 · Cited by 3
Mehta, S., & Geschwind, D. H. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00115-4 · Cited by 3
Self-citationIdentification of novel epilepsy genetics and development of advanced diagnostic approaches
Veerabathiran, R., & Iyshwarya, B. K. (2025) · Brain Disorders · doi:10.1016/j.dscb.2025.100202 · Cited by 2
Miozzo, F., Avendano, A. Z., Caso, M. G., Valentino, B., Hirano, S., Murru, L., Moretto, E., & Passafaro, M. (2026) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2025.1736960 · Cited by 2
Phenotypes and epidemiology of rare neurodevelopmental disorders
van Balkom, I. D. C. (2012) · Cited by 2
Shi, J., Yang, X. R., Caporaso, N. E., Landi, M. T., & Li, P. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00053 · Cited by 2
Ding, Y., Howard, L., Gallagher, L., & Shen, S. (2015) · Frontiers in Biology · doi:10.1007/s11515-015-1363-1 · Cited by 2
Detecting weak signals in high dimensions
Jeng, X. J. (2016) · Journal of Multivariate Analysis · doi:10.1016/j.jmva.2016.02.004 · Cited by 2
Estudo de genes candidatos aos Transtornos do Espectro Autista
Ribeiro, C. M. (2013) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2013.tde-06092013-153442 · Cited by 2
InDels e CNVs pequenas em pacientes com Transtorno do Espectro Autista
Silva, I. M. W. (2017) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2017.tde-29052017-145246 · Cited by 2
Rajagopalan, S. S., & Ghosh, S. (2025) · Methods in molecular biology · doi:10.1007/978-1-0716-4690-8_13 · Cited by 4
Ferrigno, S. M., Iliakis, E. A., Zhang, N., Pandey, S., Galanaugh, J., Muhsinov, J. M., & Fuccillo, M. V. (2026) · Science Advances · doi:10.1126/sciadv.aeb5352 · Cited by 1
Genome-Wide Association Studies of Copy Number Variation in Autism Spectrum Disorder
Hu, H., & Chung, Y. (2011) · InTech eBooks · doi:10.5772/22207 · Cited by 1
Autism genetics: Methodological issues and experimental design
Sacco, R., Lintas, C., & Persico, A. M. (2015) · Science China Life Sciences · doi:10.1007/s11427-012-4315-x · Cited by 1
Copy Number Variation in Autism Spectrum Disorders
Marshall, C. R., Lionel, A. C., & Scherer, S. W. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00009-0 · Cited by 2
Construction of a Genetic Classifier for ASD Using Gene Pathway Analysis
Chana, G., Testa, R., Gillett, P., Williams, D., Bousman, C., Zantomio, D., Everall, I., Pantelis, C., & Skafidas, E. S. (2014) · WORLD SCIENTIFIC eBooks · doi:10.1142/9789814602167_0006 · Cited by 1
Targeting Noncoding RNA for Treatment of Autism Spectrum Disorders
Dewitt, J. J., & Campbell, D. B. (2014) · WORLD SCIENTIFIC eBooks · doi:10.1142/9789814602167_0009 · Cited by 1
Facteurs génétiques impliqués dans l'autisme : revue de la littérature et recommandations cliniques
Chaste, P., Delorme, R., & Leboyer, M. (2014) · Encyclopédie médico-chirurgicale. Psychiatrie · doi:10.1016/s1633-776x(20)30407-5 · Cited by 1
Bolivar, V. J. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9781107360556.012 · Cited by 1
RPS23RG1 inhibits SORT1-mediated lysosomal degradation of MDGA2 to protect against autism
Huo, Y., Zhao, D., Zhu, X., Zheng, N., Yang, D., Meng, J., Chen, Y., & Zhang, Y. (2024) · Theranostics · doi:10.7150/thno.100451 · Cited by 1
A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia
Guo, X., Guo, J., Liu, X., & Hu, T. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1612654 · Cited by 1
Nomura, Y., Nomura, J., Tamada, K., Eguchi, N., Torigata, K., Tokumoto, S., Nemoto, A., Shirafuji, T., Yamamoto, K., Hishimoto, A., et al. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf184 · Cited by 1
Inducible Pluripotent Stem Cells In Autism Spectrum Disorders
Muotri, A. R. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00028-4 · Cited by 1
Complex Genetic Systems and Diseases
Sarkar, S. (2012) · Wiley eBooks · doi:10.1002/9780470015902.a0005887.pub2 · Cited by 1
A backward procedure for change-point detection with applications to copy number variation detectionPreprint
Shin, S. J., Wu, Y., & Hao, N. (2018) · arXiv (Cornell University) · doi:10.25417/uic.14253290.v1 · Cited by 1
Nomura, Y., Nomura, J., Nishikawa, T., & Takumi, T. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.09.13.460033 · Cited by 2
Mott, M. C. (2011) · ThinkIR: The University of Louisville's Institutional Repository (University of Louisville) · doi:10.18297/etd/1016
Autism Spectrum Disorders: Insights from Genomics
John, J., & Hakonarso, H. (2013) · InTech eBooks · doi:10.5772/54357
Genetic Dissection of Behavioral Phenotypes. Lost & Found in Translation
Bruining, H. (2008) · Utrecht University Repository (Utrecht University)
Neurexins and neuroligins: new partners for GABAA receptors at synapses
Wu, B., & Zhang, C. (2011) · Frontiers in Biology · doi:10.1007/s11515-011-1020-2
New methods for discovering common and rare genetic variants in human disease
Lin, P. (2011) · Open Scholarship Institutional Repository (Washington University in St. Louis) · doi:10.7936/k7wd3xkc
ROLE OF GENOMIC COPY NUMBER VARIATION IN ALZHEIMER'S DISEASE AND MILD COGNITIVE IMPAIRMENT
Swaminathan, S. (2013) · IUScholarWorks (Indiana University) · doi:10.7912/c2/1949
Gene and Gene-Set Analysis for Genome-Wide Association StudiesPreprint
Pedroso, I. (2013) · arXiv (Cornell University) · doi:10.48550/arxiv.1308.4102
A Likelihood-Based Framework for Association Analysis of Allele-Specific Copy Numbers
Hu, Y., Lin, D. Y., Sun, W., & Zeng, D. (2014) · Journal of the American Statistical Association · doi:10.1080/01621459.2014.908777
MDGAs help the brain lose its inhibitions
Short, B. (2013) · The Journal of Cell Biology · doi:10.1083/jcb.2003if
Troubles du spectre autistique : qu’apprend-on de la génétique ?
Delorme, R., & Mouren, M. (2012) · Annales Médico-psychologiques revue psychiatrique · doi:10.1016/j.amp.2012.07.001
Susceptibility genes in systemic lupus erythematosus
Hellquist, A. (2009) · Figshare
Genetic mechanisms underlying autism spectrum disorders
Kilpinen, H. (2010) · Työväentutkimus Vuosikirja
Social dysfunction and mental retardation
Pietropaolo, S., Sluyter, F., & Crusio, W. E. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9781107360556.010
Genomic Rearrangements in Autism Spectrum Disorders: Identification of Novel Candidate Genes
Malenfant, P. (2009) · QSpace (Queen's University Library)
Study of candidate genes to Autism Spectrum Disorders
Paulo, S. (2013)
The iPSC Technology to Study Neurodevelopmental Disorders
Muotri, A. R. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800109-7.00018-2
A-to-I RNA Editing in Autism Spectrum Disorder
Eran, A., Kohane, I. S., & Kunkel, L. M. (2014) · WORLD SCIENTIFIC eBooks · doi:10.1142/9789814602167_0010
SPARSE SEGMENT IDENTIFICATIONS WITH APPLICATIONS TO DNA COPY NUMBER VARIATION ANALYSIS
Jeng, X. J., Cai, T., & Li, H. (2015) · WORLD SCIENTIFIC eBooks · doi:10.1142/9789814583312_0022
Oxytocin and epigenetic mechanisms in mouse models of empathy and autism
Pisansky, M. T. (2016) · University of Minnesota Digital Conservancy (University of Minnesota)
Title:'Genetic'heterogeneity'in'autism:'from'single'gene'to'a' pathway'perspective'
Claudianos, C. (2016)
Molecular physiology of signal transmission along the auditory pathway
Butola, T. (2017) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-6529
Pain, O. (2018) · Birkbeck Institutional Research Online (BiRO) - Theses · doi:10.18743/pub.00040326
Gastaldi, V. D. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.5.2019.tde-08112019-113046
Genetics of autism spectrum disorders
Gupta, A. R., Fernandez, T. V., & Hoffman, E. J. (2020) · doi:10.1093/med/9780198713005.003.0028
Lee, I., Koelliker, E. L., & Kong, S. W. (2021) · Research Square · doi:10.21203/rs.3.rs-948337/v1
Reconstructing essential active zone functions within a synapsePreprint
Tan, C., Wang, S. S. H., de Nola, G., & Kaeser, P. S. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.11.21.469466
(2010) · Current Opinion in Neurology · doi:10.1097/wco.0b013e328338cade
Molecular Mechanisms Involved In The Generation Of Inhibitory Postsynaptic Structures
Wagner, S. (2021) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-8714
Modeling Autism Spectrum Disorders Using Human Neurons
Muotri, A. R. (2013) · Research and perspectives in neurosciences · doi:10.1007/978-3-642-36648-2_10
Proceedings of the Tenth Annual UT-ORNL-KBRIN Bioinformatics Summit 2011
Rouchka, E. C., Flight, R. M., & Homayouni, R. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-s7-a1
Gene Regulatory Networks in Autism
Oliphant, M. E., & Fernandez, T. V. (2017) · Springer eBooks · doi:10.1007/978-1-4614-6435-8_102153-1
Murdoch, J. D. (2021) · Springer eBooks · doi:10.1007/978-3-319-91280-6_1332
Faculty Opinions recommendation of Behavioral signatures related to genetic disorders in autism.
Şahin, M. (2014) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.718275576.793491013
Metadata
- Authors
- Bucan, M., Abrahams, B. S., Wang, K., Glessner, J. T., Herman, E. I., Sonnenblick, L. I., Alvarez Retuerto, A. I., Imielinski, M., Hadley, D., Bradfield, J. P., Kim, C., Gidaya, N. B., Lindquist, I., Hutman, T., Sigman, M., Kustanovich, V., Lajonchere, C. M., Singleton, A., Kim, J., Wassink, T. H., McMahon, W. M., Owley, T., Sweeney, J. A., Coon, H., Nurnberger, J. I., Li, M., Cantor, R. M., Minshew, N. J., Sutcliffe, J. S., Cook, E. H., Dawson, G., Buxbaum, J. D., Grant, S. F. A., Schellenberg, G. D., Geschwind, D. H., & Hakonarson, H.
- Affiliations
- University of California, Los Angeles (US)
- Children's Hospital of Philadelphia (US)
- University of Pennsylvania (US)
- Autism Speaks (US)
- National Institutes of Health (US)
- University of Iowa (US)
- University of Utah (US)
- University of Illinois Chicago (US)
- University of Pittsburgh (US)
- Vanderbilt University (US)
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Hakonarson, Hakon
- ORCID
- Glessner, Joseph T.
- Imielinski, Marcin
- Hadley, Dexter
- Lajonchere, Clara M.
- Singleton, Andrew
- Kim, Junhyong
- Wassink, Thomas H.
- Sweeney, John A.
- Coon, Hilary
- Li, Mingyao
- Cantor, Rita M.
- Minshew, Nancy J.
- Sutcliffe, James S.
- Cook, Edwin H.
- Buxbaum, Joseph D.
- Grant, Struan F. A.
- Schellenberg, Gerard D.
- Geschwind, Daniel H.
- Hakonarson, Hakon
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2009-06-26
- Volume
- 5
- Issue
- 6
- Pages
- e1000536
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC2695001
- OpenAlex
- W2125432692
- Cited by
- 424
- References
- 60
- Citations by year
- 2026: 12 · 2025: 9 · 2024: 9 · 2023: 13 · 2022: 9 · 2021: 15 · 2020: 16 · 2019: 16 · 2018: 18 · 2017: 24 · 2016: 24 · 2015: 24 · 2014: 39 · 2013: 36 · 2012: 46
- FWCI
- 25.74
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS Genetics (publishedVersion, public-domain)
- PubMed Central (publishedVersion, public-domain)
- PubMed (publishedVersion)
- D-Scholarship@Pitt (University of Pittsburgh) (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- DukeSpace (Duke University) (submittedVersion, cc-by-nc-nd)
- eScholarship (California Digital Library) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, public-domain)
- Figshare (submittedVersion, cc-by)
- UNC Libraries
- Funders
- U.S. Department of Health and Human Services
- Autism Speaks
- Massachusetts General Hospital
- Yale University
- Children's Hospital of Philadelphia (UL1-RR-024134)
- University of Pennsylvania
- Emory University
- George Washington University
- National Alliance for Research on Schizophrenia and Depression
- Cotswold Foundation
- National Institutes of Health (Z01-AG000949)
- National Institute on Aging (K24AG000949, Z01AG000949)
- National Institute of Mental Health (U24MH081810, MH081754, R01MH081754, R01MH604687)
- National Institute of General Medical Sciences (P20GM069012, P20-GM69012)
- National Center for Research Resources (UL1-RR024134-03, UL1RR024134)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD055784)
- 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, exon deletion, autism susceptibility genes, structural variants, multiplex families, NRXN1, UBE3A, 15q11-q13, rare variants, gene prioritization
- MeSH terms
- Adolescent, Autistic Disorder, Calcium-Binding Proteins, Child, Child, Preschool, Exons, Female, Humans, Male, Nerve Tissue Proteins, Pedigree, Cohort Studies, Cell Adhesion Molecules, Neuronal, Case-Control Studies, Sequence Deletion, Gene Dosage, Neural Cell Adhesion Molecules, Genetic Predisposition to Disease, Gene Duplication, Ubiquitin-Protein Ligases, Genome-Wide Association Study, Young Adult
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
