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 101–200 of 424
Wiśniowiecka‐Kowalnik, B., Nesteruk, M., Peters, S. U., Xia, Z., Cooper, M. L., Savage, S., Amato, R. S., Bader, P., Browning, M. F., Haun, C. L., et al. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31064 · Cited by 82
The neuroligins and the synaptic pathway in Autism Spectrum Disorder
Trobiani, L., Meringolo, M., Diamanti, T., Bourne, Y., Marchot, P., Martella, G., Dini, L., Pisani, A., Jaco, A. D., & Bonsi, P. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.09.017 · Cited by 86
Salyakina, D., Cukier, H. N., Lee, J. M., Sacharow, S., Nations, L. D., Ma, D., Jaworski, J. M., Konidari, I., Whitehead, P. L., Wright, H. H., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0026049 · Cited by 82
Rethinking the genetic architecture of schizophrenia
Mitchell, K. J., & Porteous, D. J. (2010) · Psychological Medicine · doi:10.1017/s003329171000070x · Cited by 82
Modeling the functional genomics of autism using human neurons
Konopka, G., Wexler, E., Rosen, E., Mukamel, Z., Osborn, G. E., Chen, L., Lu, D., Gao, F., Gao, K., Lowe, J. K., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.60 · Cited by 77
Self-citationBehavioral signatures related to genetic disorders in autism
Bruining, H., Eijkemans, M. J., Kas, M. J., Curran, S. R., Vorstman, J. A., & Bolton, P. F. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-11 · Cited by 77
Epigenetic dysregulation of protocadherins in human disease
Hajj, N. E., Dittrich, M. T., & Haaf, T. (2017) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2017.07.007 · Cited by 80
LINE‐1 retrotransposons in healthy and diseased human brain
Suarez, N. A., Macia, Á., & Muotri, A. R. (2017) · Developmental Neurobiology · doi:10.1002/dneu.22567 · Cited by 80
Optimal Sparse Segment Identification With Application in Copy Number Variation Analysis
Jeng, X. J., Cai, T., & Li, H. (2010) · Journal of the American Statistical Association · doi:10.1198/jasa.2010.tm10083 · Cited by 72
Nava, C., Keren, B., Mignot, C., Rastetter, A., Chantot‐Bastaraud, S., Faudet, A., Fonteneau, E., Amiet, C., Laurent‐Levinson, C., Jacquette, A., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.88 · Cited by 75
Uzunova, G., Hollander, E., & Shepherd, J. D. (2014) · Current Neuropharmacology · doi:10.2174/1570159x113116660046 · Cited by 73
Ben‐David, E., Granot‐Hershkovitz, E., Monderer‐Rothkoff, G., Lerer, E., Levi, S., Yaari, M., Ebstein, R. P., Yirmiya, N., & Shifman, S. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr283 · Cited by 72
iTRAQ‐Based Proteomic Analysis Reveals Protein Profile in Plasma from Children with Autism
Shen, L., Zhang, K., Feng, C., Chen, Y., Li, S., Iqbal, J., Liao, L., Zhao, Y., & Zhai, J. (2017) · PROTEOMICS - CLINICAL APPLICATIONS · doi:10.1002/prca.201700085 · Cited by 70
Yin, J., & Schaaf, C. P. (2016) · Prenatal Diagnosis · doi:10.1002/pd.4942 · Cited by 78
Molecular Mechanism of MDGA1: Regulation of Neuroligin 2:Neurexin Trans-synaptic Bridges
Gangwar, S. P., Zhong, X. S., Seshadrinathan, S., Chen, H., Machius, M., & Rudenko, G. (2017) · Neuron · doi:10.1016/j.neuron.2017.06.009 · Cited by 68
Genetic heterogeneity in autism: From single gene to a pathway perspective
An, J., & Claudianos, C. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.06.013 · Cited by 68
Jyonouchi, H., Geng, L., Streck, D. L., & Toruner, G. A. (2011) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2011.07.001 · Cited by 67
Present and future evolution of advanced breast cancer therapy
Álvarez, R. H. (2010) · Breast Cancer Research · doi:10.1186/bcr2572 · Cited by 71
Association testing of copy number variants in schizophrenia and autism spectrum disorders
Crespi, B. J., & Crofts, H. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-15 · Cited by 69
Matsunami, N., Hadley, D., Hensel, C. H., Christensen, G. B., Kim, C., Frackelton, E. C., Thomas, K., da Silva, R. P., Stevens, J., Baird, L. M., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0052239 · Cited by 67
Self-citationPhenotypic spectrum of NRXN1 mono‐ and bi‐allelic deficiency: A systematic review
Castronovo, P., Baccarin, M., Ricciardello, A., Picinelli, C., Tomaiuolo, P., Cucinotta, F., Frittoli, M., Lintas, C., Sacco, R., & Persico, A. M. (2020) · Clinical Genetics · doi:10.1111/cge.13537 · Cited by 65
Walsh, K. M., & Bracken, M. B. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182076c0c · Cited by 65
Epigenetic Alterations and an Increased Frequency of Micronuclei in Women with Fibromyalgia
Menzies, V. S., Lyon, D., Archer, K. J., Zhou, Q., Brumelle, J., Jones, K. H., Gao, G., York, T. P., & Jackson‐Cook, C. K. (2013) · Nursing Research and Practice · doi:10.1155/2013/795784 · Cited by 69
Kim, J. A., Kim, D., Won, S. Y., Han, K. A., Park, D., Cho, E. J., Yun, N., An, H. J., Um, J. W., Kim, E., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.05.034 · Cited by 67
Self-citationConnolly, J. J., Glessner, J., & Hakonarson, H. H. (2012) · Child Development · doi:10.1111/j.1467-8624.2012.01838.x · Cited by 66
Self-citationThe Genetics of Autism Spectrum Disorders – A Guide for Clinicians
Heil, K. M., & Schaaf, C. P. (2012) · Current Psychiatry Reports · doi:10.1007/s11920-012-0334-3 · Cited by 68
Chaste, P., Sanders, S. J., Mohan, K. N., Klei, L., Song, Y., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno‐De‐Luca, D., et al. (2014) · Autism Research · doi:10.1002/aur.1378 · Cited by 61
Self-citationDrosophila modeling of heritable neurodevelopmental disorders
Gatto, C. L., & Broadie, K. S. (2011) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2011.04.009 · Cited by 59
Multisensory cortical processing and dysfunction across the neuropsychiatric spectrum
Hornix, B., Havekes, R., & Kas, M. J. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.02.010 · Cited by 64
Hamada, N., Ito, H., Iwamoto, I., Morishita, R., Tabata, H., & Nagata, K.-I. (2015) · Molecular Autism · doi:10.1186/s13229-015-0049-5 · Cited by 59
Harper, K. M., Hiramoto, T., Tanigaki, K., Kang, G., Suzuki, G., Trimble, W. S., & Hiroi, N. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds180 · Cited by 58
Cheng, Y., Quinn, J. F., & Weiss, L. A. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt150 · Cited by 60
Connor, S. A., Ammendrup‐Johnsen, I., Kishimoto, Y., Tari, P. K., Cvetkovska, V., Harada, T., Ojima, D., Yamamoto, T., Wang, Y. T., & Craig, A. M. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.11.109 · Cited by 57
Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells
Avazzadeh, S., McDonagh, K., Reilly, J., Wang, Y., Boomkamp, S. D., McInerney, V., Krawczyk, J., Fitzgerald, J., Feerick, N., O’Sullivan, M., et al. (2019) · Molecular Autism · doi:10.1186/s13229-019-0303-3 · Cited by 57
Bacchelli, E., Ceroni, F., Pinto, D., Lomartire, S., Giannandrea, M., D’Adamo, P., Bonora, E., Parchi, P., Tancredi, R., Battaglia, A., et al. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-17 · Cited by 58
Port, R. G., Gajewski, C. R., Krizman, E. N., Dow, H. C., Hirano, S., Brodkin, E. S., Carlson, G. C., Robinson, M. B., Roberts, T. P. L., & Siegel, S. J. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2017.08.013 · Cited by 55
Bruining, H., Matsui, A., Oguro‐Ando, A., Kahn, R. S., Spijker, H. M. V. ‘., Akkermans, G., Stiedl, O., van Engeland, H., Koopmans, B., van Lith, H. A., et al. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.01.017 · Cited by 59
Pumping the brakes: suppression of synapse development by MDGA–neuroligin interactions
Connor, S. A., Elegheert, J., Xie, Y., & Craig, A. M. (2019) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2019.01.002 · Cited by 53
Communication, interventions, and scientific advances in autism: A commentary
Llaneza, D. C., DeLuke, S. V., Batista, M., Crawley, J. N., Christodulu, K. V., & Frye, C. A. (2010) · Physiology & Behavior · doi:10.1016/j.physbeh.2010.01.003 · Cited by 62
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation
Falivelli, G., Jaco, A. D., Favaloro, F. L., Kim, H.-G., Wilson, J., Dubi, N., Ellisman, M. H., Abrahams, B. S., Taylor, P., & Comoletti, D. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds320 · Cited by 56
Self-citationPhenotypic characterization of nonsocial behavioral impairment in neurexin 1α knockout rats.
Esclassan, F., Francois, J., Phillips, K. G., Loomis, S., & Gilmour, G. (2015) · Behavioral Neuroscience · doi:10.1037/bne0000024 · Cited by 52
Links between genetics and pathophysiology in the autism spectrum disorders
Holt, R., & Monaco, A. P. (2011) · EMBO Molecular Medicine · doi:10.1002/emmm.201100157 · Cited by 52
Age- and sex-specific fear conditioning deficits in mice lacking Pcdh10, an Autism Associated Gene
Ferri, S. L., Dow, H. C., Schoch, H., Lee, J. Y., Brodkin, E. S., & Abel, T. (2021) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2020.107364 · Cited by 51
Developmental Disruptions of the Dorsal Striatum in Autism Spectrum Disorder
Evans, M. M., Kim, J., Abel, T. G., Nickl‐Jockschat, T., & Stevens, H. E. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.08.015 · Cited by 56
Self-citationCondon, K. H., Ho, J., Robinson, C. G., Hanus, C., & Ehlers, M. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.1930-11.2013 · Cited by 51
A Map of Copy Number Variations in Chinese Populations
Lou, H., Li, S., Yang, Y., Kang, L., Zhang, X., Jin, W., Wu, B.-L., Li, J., & Xu, S. (2011) · PLoS ONE · doi:10.1371/journal.pone.0027341 · Cited by 52
Panaitof, S. C., Abrahams, B. S., Dong, H., Geschwind, D. H., & White, S. A. (2010) · Journal of Comparative Neurology · doi:10.1002/cne.22318 · Cited by 49
Self-citationMancini, M., Bassani, S., & Passafaro, M. (2020) · Cells · doi:10.3390/cells9122711 · Cited by 48
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci
Hedges, D. J., Hamilton‐Nelson, K. L., Sacharow, S. J., Nations, L. D., Beecham, G. W., Kozhekbaeva, Z. M., Butler, B., Cukier, H. N., Whitehead, P. L., Ma, D., et al. (2012) · Molecular Autism · doi:10.1186/2040-2392-3-2 · Cited by 50
A genome-wide association study of carotid atherosclerosis in HIV-infected men
Shrestha, S., Irvin, M. R., Taylor, K. D., Wiener, H. W., Pajewski, N. M., Haritunians, T., Delaney, J. A., Schambelan, M., Polak, J. F., Arnett, D. K., et al. (2010) · AIDS · doi:10.1097/qad.0b013e3283353c9e · Cited by 47
Nakai, N., Takumi, T., Nakai, J., & Sato, M. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00412 · Cited by 49
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms
Uzun, E. D. G., Sciarra, L. N., Maguire, A. M., Pescosolido, M. F., van Dyck, L. I., & Morrow, E. M. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0363-9 · Cited by 45
Sex-Dependent Novelty Response in Neurexin-1α Mutant Mice
Laarakker, M. C., Reinders, N. R., Bruining, H., Ophoff, R. A., & Kas, M. J. (2012) · PLoS ONE · doi:10.1371/journal.pone.0031503 · Cited by 48
Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population
Kuo, P., Chuang, L.-C., Su, M., Chen, C., Chen, C.-H., Wu, J., Yen, C., Wu, Y., Liu, S.-K., Chou, M., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0138695 · Cited by 48
Dense‐map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36
Field, L. L., Shumansky, K., Ryan, J., Truong, D. T., Swiergala, E., & Kaplan, B. J. (2012) · Genes Brain & Behavior · doi:10.1111/gbb.12003 · Cited by 44
The genetics of Tourette disorder
State, M. W. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.01.007 · Cited by 43
Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era
Jiang, Y., Wang, Y., Xu, X., Choy, K. W., Pursley, A. N., & Cheung, S. W. (2014) · Critical Reviews in Clinical Laboratory Sciences · doi:10.3109/10408363.2014.910747 · Cited by 47
Kushibiki, Y., Suzuki, T., Jin, Y., & Taru, H. (2019) · Journal of Neuroscience · doi:10.1523/jneurosci.0506-19.2019 · Cited by 43
Blundell, J. J., Kaeser, P. S., Südhof, T. C., & Powell, C. M. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.0328-10.2010 · Cited by 47
Mondal, K., Ramachandran, D., Patel, V. C., Hagen, K. R., Bose, P., Cutler, D. J., & Zwick, M. E. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds267 · Cited by 46
Wiśniowiecka‐Kowalnik, B., Kastory-Bronowska, M., Bartnik, M., Derwińska, K., Dymczak-Domini, W., Szumbarska, D., Ziemka, E., Szczałuba, K., Sykulski, M., Gambin, T., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.219 · Cited by 44
Chen, X., Shen, Y., Zhang, F., Chiang, C., Pillalamarri, V., Blumenthal, I., Talkowski, M. E., Wu, B.-L., & Gusella, J. F. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.02.006 · Cited by 45
Cell Adhesion Molecules and Their Involvement in Autism Spectrum Disorder
Ye, H., Liu, J., & Wu, J. Y. (2010) · Neurosignals · doi:10.1159/000322543 · Cited by 45
Cannon, D. S., Miller, J. S., Robison, R. J., Villalobos, M., Wahmhoff, N. K., Allen‐Brady, K., McMahon, W. M., & Coon, H. H. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-3 · Cited by 44
Self-citationSoueid, J., Kourtian, S., Makhoul, N. J., Makoukji, J., El-Haddad, S., Ghanem, S. S., Kobeissy, F. H., & Boustany, R. (2016) · Scientific Reports · doi:10.1038/srep19088 · Cited by 44
Home-cage hypoactivity in mouse genetic models of autism spectrum disorder
Angelakos, C. C., Tudor, J. C., Ferri, S. L., Jongens, T. A., & Abel, T. G. (2019) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2019.02.010 · Cited by 44
Genome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy
Chen, Z., Chen, J., Shatunov, A., Jones, A. R., Kravitz, S. N., Huang, A., Lawrence, L., Lowe, J. K., Lewis, C. M., Payan, C., et al. (2019) · Movement Disorders · doi:10.1002/mds.27702 · Cited by 42
Self-citationInfluence of stimulant-induced hyperactivity on social approach in the BTBR mouse model of autism
Silverman, J. L., Babineau, B. A., Oliver, C. F., Karras, M. N., & Crawley, J. N. (2012) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.07.042 · Cited by 46
Chen, J., Calhoun, V. D., Perrone‐Bizzozero, N. I., Pearlson, G. D., Jing Sui （Beijing Normal University）， my correct affiliation is beijing normal university, N. Q. U. O. S. A. T., Du, Y.-X., & Liu, J. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.96 · Cited by 40
Baig, D. N., Yanagawa, T., & Tabuchi, K. (2016) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2016.10.006 · Cited by 41
Curran, S. R., Ahn, J. W., Grayton, H. M., Collier, D. A., & Ogilvie, C. M. (2013) · Journal of Molecular Psychiatry · doi:10.1186/2049-9256-1-4 · Cited by 40
Whole genome association studies in complex diseases: where do we stand?
Need, A. C., & Goldstein, D. B. (2010) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2010.12.1/aneed · Cited by 40
Rebuilding essential active zone functions within a synapse
Tan, C., Wang, S. S. H., de Nola, G., & Kaeser, P. S. (2022) · Neuron · doi:10.1016/j.neuron.2022.01.026 · Cited by 40
Using genetic findings in autism for the development of new pharmaceutical compounds
Vorstman, J. A. S., Spooren, W. P. J. M., Persico, A. M., Collier, D. A., Aigner, S., Jagasia, R., Glennon, J. C., & Buitelaar, J. K. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3334-z · Cited by 43
Parental and Grandparental Ages in the Autistic Spectrum Disorders: A Birth Cohort Study
Golding, J., Steer, C. D., & Pembrey, M. E. (2010) · PLoS ONE · doi:10.1371/journal.pone.0009939 · Cited by 41
Moore, J. M., Oliver, P. L., Finelli, M. J., Lee, S., Lickiss, T., Molnár, Z., & Davies, K. E. (2014) · PLoS ONE · doi:10.1371/journal.pone.0105933 · Cited by 38
Riggs, E. R., Nelson, T. H., Merz, A., Ackley, T., Bunke, B. P., Collins, C. D., Collinson, M. N., Fan, Y., Goodenberger, M. L., Golden, D. M., et al. (2018) · Human Mutation · doi:10.1002/humu.23610 · Cited by 38
Matsunami, N., Hensel, C. H., Baird, L. M., Stevens, J., Otterud, B., Leppert, M., Varvil, T., Hadley, D., Glessner, J., Pellegrino, R., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-5 · Cited by 38
Self-citationA common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion
Viñas‐Jornet, M., Esteba‐Castillo, S., Gabau, E., Ribas‐Vidal, N., Baena, N., San, J., Ruiz, A., Coll, M. D., Novell, R., & Guitart, M. (2014) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.105 · Cited by 39
Tsai, C., Chen, T., Tsai, K.-J., Lin, M., Hsu, C., Wu, D., Tsai, E., & Hsieh, T. (2020) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2020.110869 · Cited by 37
Mencacci, N. E., Brockmann, M. M., Dai, J., Pajusalu, S., Atasu, B., González-Latapí, P., Patzke, C., Schwake, M., Tucci, A., Pittman, A. M., et al. (2021) · Journal of Clinical Investigation · doi:10.1172/jci140625 · Cited by 36
Sallari, R. C., Cole, M. D., Karagas, M. R., Lupien, M., & Moore, J. H. (2010) · WIREs Systems Biology and Medicine · doi:10.1002/wsbm.132 · Cited by 37
Autism - A Neurodevelopmental Journey from Genes to Behaviour
Eapen, V. (2011) · InTech eBooks · doi:10.5772/974 · Cited by 36
Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation
Camacho-Garcia, R. J., Planelles, M. I., Margalef-Català, M., Pecero, M. L., Martínez‐Leal, R., Aguilera, F., Vilella, E., Martínez-Mir, A., & Scholl, F. G. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.03.031 · Cited by 38
Control of neural development and function by glial neuroligins
Sakers, K., & Eroğlu, Ç. (2019) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2019.03.007 · Cited by 33
SgD-CNV, a database for common and rare copy number variants in three Asian populations
Xu, H., Poh, W.-T., Sim, X., Ong, R. T., Suo, C., Tay, W.-T., Khor, C. C., Seielstad, M. T., Liu, J., Aung, T., et al. (2011) · Human Mutation · doi:10.1002/humu.21601 · Cited by 34
Motor sequencing deficit as an endophenotype of speech sound disorder
Peter, B., Matsushita, M. M., & Raskind, W. H. (2012) · Psychiatric Genetics · doi:10.1097/ypg.0b013e328353ae92 · Cited by 33
Sbacchi, S., Acquadro, F., Calo, I., Calı̀, F., & Romano, V. (2010) · Current Genomics · doi:10.2174/138920210790886880 · Cited by 33
Copy number variation in patients with cervical artery dissection
Grond‐Ginsbach, C., Chen, B., Pjontek, R., Wiest, T., Jiang, Y., Burwinkel, B., Tchatchou, S., Krawczak, M., Schreiber, S., Brandt, T., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.82 · Cited by 33
LaBianca, S., Brikell, I., Helenius, D., Loughnan, R. J., Mefford, J., Palmer, C. E., Walker, R. L., Gådin, J. R., Krebs, M. D., Appadurai, V., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01593-7 · Cited by 30
Self-citationAutism Spectrum Disorder-Related Syndromes: Modeling with Drosophila and Rodents
Ueoka, I., Pham, H. T. N., Matsumoto, K., & Yamaguchi, M. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20174071 · Cited by 39
NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons
Avazzadeh, S., Quinlan, L. R., Reilly, J., McDonagh, K., Jalali, A., Wang, Y., McInerney, V., Krawczyk, J., Ding, Y., Fitzgerald, J., et al. (2021) · BMC Neuroscience · doi:10.1186/s12868-021-00661-0 · Cited by 33
A Candidate Gene Association Study Further Corroborates Involvement of Contactin Genes in Autism
Poot, M. (2014) · Molecular Syndromology · doi:10.1159/000362891 · Cited by 36
Mozhui, K., Wang, X., Chen, J., Mulligan, M. K., Li, Z. A., Ingles, J., Chen, X., Lü, L., & Williams, R. W. (2011) · Translational Psychiatry · doi:10.1038/tp.2011.24 · Cited by 31
The Genetic Effect of Copy Number Variations on the Risk of Type 2 Diabetes in a Korean Population
Bae, J. S., Cheong, H. S., Kim, J. H., Park, B. L., Kim, J., Park, T. J., Kim, Y., Pasaje, C. F. A., Lee, J. S., Park, Y.-J., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019091 · Cited by 31
Self-citationGlutamatergic candidate genes in autism spectrum disorder: an overview
Chiocchetti, A. G., Bour, H. S., & Freitag, C. M. (2014) · Journal of Neural Transmission · doi:10.1007/s00702-014-1161-y · Cited by 31
Evolutionary conservation in genes underlying human psychiatric disorders
Ogawa, L. M., & Vallender, E. J. (2014) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2014.00283 · Cited by 33
Jiang, D., Wu, Z., Forsyth, C., Hu, Y., Yee, S., & Chen, G. (2018) · Molecular Brain · doi:10.1186/s13041-018-0375-6 · Cited by 31
Immunoglobulin-Like Receptors and Their Impact on Wiring of Brain Synapses
Cameron, S., & McAllister, A. K. (2018) · Annual Review of Genetics · doi:10.1146/annurev-genet-120417-031513 · Cited by 28
Gandawijaya, J., Bamford, R. A., Burbach, J. P. H., & Oguro‐Ando, A. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.611379 · Cited by 33
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
