The DOI matches its Crossref record; 17 of the 18 references it cites were found in a registry or an index.
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Open accessAbstract
Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.
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
“the contribution of rare, de novo mutations in coding regions of the genome is relatively greater among a range of early-onset disorders 43 -45 than for typically later-onset common conditions such as schizophrenia and bipolar disorder”
From Autism spectrum disorder (2020) · cites this paper as [45]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“Various genetic approaches have been successful in identifying the causes of more than 1,000 Mendelian, and fewer non-Mendelian, forms of neurodevelopmental disorders: prototypical examples are intellectual disability62–68, autism spectrum disorder (ASD)69–77, epilepsy78,79 and schizophrenia80–82.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [69]
The 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 [12]
The cited source says what the claim attributes to it.
In the citing paper
“Rare mutations have been identified in synaptic genes, including NLGN3 , NLGN4X (ref. 4) and SHANK3 (ref. 5)”
From Functional impact of global rare copy number variation in autism spectrum disorders (2010) · cites this paper as [4]
In the citing paper
“Y chromosome genes that could contribute to sex bias in neurodevelopmental conditions include NLGN4Y, an autism candidate gene246, and SRY247, a brain-expressed gene that stimulates male gonadal development and fetal testosterone production.”
From Sex and gender in neurodevelopmental conditions (2023) · cites this paper as [246]
In the citing paper
“In addition to Shank39, it is worth noting that Shank26,8, SAPAP26, Neurexin-126, Neuroligin-3 and −427 have all been implicated in human ASDs.”
From Shank3 mutant mice display autistic-like behaviours and striatal dysfunction (2011) · cites this paper as [27]
In the citing paper
“One of these was a nonsense mutation in NLGN4X (p.Q329X), found in a single affected male child. NLGN4X is an X-linked gene encoding a neuronal synaptic adhesion molecule, and mutations in NLGN4X have been described in individuals with autism, Asperger syndrome, and intellectual disability (Jamain et al., 2003). This mutation was inherited from an unaffected mother, consistent with prior”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as Jamain et al., 2003
In the citing paper
“the first mutations identified in idiopathic autism involve synaptic genes like NLGN3 and NLGN4X,27,28 or SHANK329-31”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [27]
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
Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,845
Neuroligin Expressed in Nonneuronal Cells Triggers Presynaptic Development in Contacting Axons
Scheiffele, P., Fan, J., Choih, J., Fetter, R., & Serafini, T. (2000) · Cell · doi:10.1016/s0092-8674(00)80877-6 · Cited by 1,218
Genetics of austim: complex aetiology for a heterogeneous disorder
Folstein, S. E., & Rosen-Sheidley, B. (2001) · Nature Reviews Genetics · doi:10.1038/35103559 · Cited by 771
Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses
Song, J.-Y., Ichtchenko, K., Südhof, T. C., & Brose, N. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.3.1100 · Cited by 696
Neuroligin 1: A splice site-specific ligand for β-neurexins
Ichtchenko, K., Hata, Y., Nguyen, T., Ullrich, B., Missler, M., Moomaw, C. R., & Südhof, T. C. (1995) · Cell · doi:10.1016/0092-8674(95)90396-8 · Cited by 663
Structures, Alternative Splicing, and Neurexin Binding of Multiple Neuroligins
Ichtchenko, K., Nguyen, T., & Südhof, T. C. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.5.2676 · Cited by 468
Linkage and association of the glutamate receptor 6 gene with autism
Jamain, S., Betancur, C., Quach, H., Philippe, A., Fellous, M., Giros, B., Gillberg, C., Leboyer, M., & Bourgeron, T. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4000979 · Cited by 318
Self-citationGenomic screen and follow‐up analysis for autistic disorder
Shao, Y., Wolpert, C. M., Raiford, K. L., Menold, M. M., Donnelly, S. L., Ravan, S. A., Bass, M. P., McClain, C., von Wendt, L., Vance, J. M., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10153 · Cited by 252
Auranen, M., Vanhala, R., Varilo, T., Ayers, K. L., Kempas, E., Ylisaukko‐oja, T., Sinsheimer, J. S., Peltonen, L., & Järvelä, I. E. (2002) · The American Journal of Human Genetics · doi:10.1086/342720 · Cited by 241
Chromosomal disorders and autism
Gillberg, C. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026004505764 · Cited by 237
Self-citation
Cited by
Sorted by citations
Items 601–700 of 1,003
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
Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice
Swaminathan, M., Hill‐Yardin, E. L., Ellis, M., Zygorodimos, M., Johnston, L. A., Gwynne, R. M., & Bornstein, J. C. (2016) · Journal of Visualized Experiments · doi:10.3791/53828 · Cited by 62
Dong, T., He, J., Wang, S., Wang, L., Cheng, Y., & Zhong, Y. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1602152113 · Cited by 62
Functions of synapse adhesion molecules neurexin/neuroligins and neurodevelopmental disorders
Cao, X., & Tabuchi, K. (2016) · Neuroscience Research · doi:10.1016/j.neures.2016.09.005 · Cited by 61
Chanda, S., Aoto, J., Lee, S.-J., Wernig, M., & Südhof, T. C. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.20 · Cited by 60
FMR1 and Autism, an Intriguing Connection Revisited
Fyke, W., & Velinov, M. T. (2021) · Genes · doi:10.3390/genes12081218 · Cited by 60
Symptomatic, Genetic, and Mechanistic Overlaps between Autism and Alzheimer’s Disease
Nadeem, M. S., Hosawi, S. B. I., Alshehri, S., Ghoneim, M. M., Imam, S. S., Murtaza, B. N., & Kazmi, I. A. (2021) · Biomolecules · doi:10.3390/biom11111635 · Cited by 60
Early Correlated Network Activity in the Hippocampus: Its Putative Role in Shaping Neuronal Circuits
Griguoli, M., & Cherubini, E. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00255 · Cited by 60
Hosie, S., Malone, D. T., Liu, S., Glass, M., Adlard, P. A., Hannan, A. J., & Hill‐Yardin, E. L. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00234 · Cited by 60
Autism and Familial Major Mood Disorder: Are They Related?
DeLong, R. G. (2004) · Journal of Neuropsychiatry · doi:10.1176/jnp.16.2.199 · Cited by 60
Malformation of the superior olivary complex in an animal model of autism
Lukose, R., Schmidt, E., Wolski, T. P., Murawski, N. J., & Kulesza, R. J. (2011) · Brain Research · doi:10.1016/j.brainres.2011.05.013 · Cited by 59
Comparing the Gut Microbiome in Autism and Preclinical Models: A Systematic Review
Alamoudi, M. U. A., Hosie, S., Shindler, A. E., Wood, J. L., Franks, A. E., & Hill‐Yardin, E. L. (2022) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2022.905841 · Cited by 59
Kohl, C., Riccio, O., Grosse, J., Zanoletti, O., Fournier, C., Schmidt, M. V., & Sandi, C. (2013) · PLoS ONE · doi:10.1371/journal.pone.0056871 · Cited by 59
Gender Differences in Core Symptomatology in Autism Spectrum Disorders across the Lifespan
Taylor, T., & Matson, J. L. (2011) · Journal of Developmental and Physical Disabilities · doi:10.1007/s10882-011-9235-3 · Cited by 59
Syntrophin proteins as Santa Claus: role(s) in cell signal transduction
Bhat, H. F., Adams, M. E., & Khanday, F. A. (2012) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-012-1233-9 · Cited by 59
Disruption of the epigenetic code: An emerging mechanism in mental retardation
van Bokhoven, H., & Kramer, J. M. (2010) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.03.010 · Cited by 59
Jaco, A. D., Comoletti, D., Kovarik, Z., Gaietta, G. M., Radić, Z., Lockridge, O., Ellisman, M. H., & Taylor, P. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m510262200 · Cited by 59
A short review of biological research on the development of sexual orientation
Bogaert, A. F., & Skorska, M. N. (2020) · Hormones and Behavior · doi:10.1016/j.yhbeh.2019.104659 · Cited by 59
Analysis of X chromosome inactivation in autism spectrum disorders
Gong, X., Bacchelli, E., Blasi, F., Claudio Toma, A., Betancur, C., Chaste, P., Delorme, R., Durand, C. M., Fauchereau, F., Goubran‐Botros, H., et al. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30688 · Cited by 59
Self-citationX‐linked mental retardation: further lumping, splitting and emerging phenotypes
Kleefstra, T., & Hamel, B. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00434.x · Cited by 59
New Frontiers in Animal Research of Psychiatric Illness
Kaffman, A., & Krystal, J. J. (2012) · Methods in Molecular Biology · doi:10.1007/978-1-61779-458-2_1 · Cited by 59
Autism: the quest for the genes
Sykes, N. H., & Lamb, J. A. (2007) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399407000452 · Cited by 58
Towards understanding sex differences in autism spectrum disorders
Leow, K. Q., Tonta, M. A., Lü, J., Coleman, H. A., & Parkington, H. C. (2024) · Brain Research · doi:10.1016/j.brainres.2024.148877 · Cited by 58
Jamain, S., Betancur, C., Giros, B., Leboyer, M., & Bourgeron, T. (2003) · médecine/sciences · doi:10.1051/medsci/200319111081 · Cited by 58
Self-citationDu, X., Gao, X., Liu, X., Shen, L., Wang, K., Fan, Y., Sun, Y., Luo, X., Liu, H., Wang, L., et al. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00594 · Cited by 57
Khera, R., Mehan, S., Kumar, S., Sethi, P., Bhalla, S., & Prajapati, A. (2022) · Molecular Neurobiology · doi:10.1007/s12035-022-02819-1 · Cited by 57
Durand, C. M., Kappeler, C., Betancur, C., Delorme, R., Quach, H., Goubran‐Botros, H., Melke, J., Nygren, G., Chabane, N., Bellivier, F., et al. (2005) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30229 · Cited by 57
Self-citationModi, B., Pimpinella, D., Pazienti, A., Zacchi, P., Cherubini, E., & Griguoli, M. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00513 · Cited by 57
Bemben, M. A., Nguyen, Q.-A., Wang, T., Li, Y., Nicoll, R. A., & Roche, K. W. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1500501112 · Cited by 56
Picchioni, D., Reith, R. M., Nadel, J., & Smith, C. B. (2014) · Brain Sciences · doi:10.3390/brainsci4010150 · Cited by 56
Emerging Pharmacotherapies for Neurodevelopmental Disorders
Wetmore, D. Z., & Garner, C. C. (2010) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e3181ee3833 · Cited by 56
Martella, G., Meringolo, M., Trobiani, L., Jaco, A. D., Pisani, A., & Bonsi, P. (2017) · European Journal of Neuroscience · doi:10.1111/ejn.13705 · Cited by 56
Identification of candidate intergenic risk loci in autism spectrum disorder
Walker, S., & Scherer, S. W. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-499 · Cited by 55
Molecular and synaptic defects in intellectual disability syndromes
Verpelli, C., & Sala, C. (2011) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2011.09.007 · Cited by 55
Gilbert, J. P., O’Connor, M. G., Templet, S., Moghaddam, M., Ioschpe, A. D. V., Sinclair, A., Zhu, L., Xu, W., & Man, H. (2019) · Journal of Neuroscience · doi:10.1523/jneurosci.0222-19.2019 · Cited by 55
Gilling, M., Rasmussen, H. B., Calløe, K., Sequeira, A. F., Baretto, M., Oliveira, G., Almeida, J., Lauritsen, M. B., Ullmann, R., Boonen, S. E., et al. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00054 · Cited by 55
L’autisme : un trouble neuro-développemental précoce
Bonnet‐Brilhault, F. (2017) · Archives de Pédiatrie · doi:10.1016/j.arcped.2017.01.014 · Cited by 54
Dendritic Integration Dysfunction in Neurodevelopmental Disorders
Nelson, A. D., & Bender, K. J. (2021) · Developmental Neuroscience · doi:10.1159/000516657 · Cited by 54
Michetti, C., Falace, A., Benfenati, F., & Fassio, A. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105856 · Cited by 56
Autism: Neuropathology, Alterations of the GABAergic System, and Animal Models
van Kooten, I. A. J., Hof, P. R., van Engeland, H., Steinbusch, H. W. M., Patterson, P. H., & Schmitz, C. (2005) · International review of neurobiology · doi:10.1016/s0074-7742(05)71001-1 · Cited by 54
A Substitution Involving the NLGN4 Gene Associated with Autistic Behavior in the Greek Population
Παμπάνος, Α., Volaki, K., Kanavakis, E., Papadaki-Papandreou, O., Youroukos, S., Thomaidis, L., Karkelis, S., Tzetis, M., & Kitsiou‐Tzeli, S. (2009) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2009.0005 · Cited by 54
Pizzarelli, R., & Cherubini, E. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00085 · Cited by 54
Mameza, M. G., Dvoretskova, E., Bamann, M., Hönck, H., Güler, T., Boeckers, T. M., Schoen, M., Verpelli, C., Sala, C., Barsukov, I., et al. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.424747 · Cited by 54
Amiet, C., Gourfinkel‐An, I., Laurent‐Levinson, C., Bodeau, N., Génin, B., Leguern, É., Tordjman, S., & Cohen, D. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-47 · Cited by 54
Epigenetics, brain, behavior, and the environment
Crews, D. P. (2010) · HORMONES · doi:10.14310/horm.2002.1251 · Cited by 54
The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability
Chaste, P., Roeder, K., & Devlin, B. (2017) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022647 · Cited by 54
HLA-class II haplotypes and Autism Spectrum Disorders
Bennabi, M., Gaman, A., Delorme, R., Boukouaci, W., Manier, C., Scheid, I., Mohammed, N. S., Bengoufa, D., Charron, D. J., Krishnamoorthy, R., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-25974-9 · Cited by 54
Self-citationMoreno-Salinas, A. L., Avila-Zozaya, M., Ugalde‐Silva, P., Hernández-Guzmán, D. A., Missirlis, F., & Boucard, A. A. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00700 · Cited by 54
Eltokhi, A., Santuy, A., Merchán-Pérez, Á., & Sprengel, R. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms22010059 · Cited by 54
Interneuron development and dysfunction
Yang, J., Yang, X. W., & Tang, K. (2021) · FEBS Journal · doi:10.1111/febs.15872 · Cited by 54
Volders, K., Nuytens, K., & Creemers, J. W. M. (2011) · Current Molecular Medicine · doi:10.2174/156652411795243432 · Cited by 54
Animal models of psychiatric disease
Flint, J., & Shifman, S. (2008) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2008.07.002 · Cited by 54
Wang, L., Mirabella, V. R., Dai, R., Su, X. Y., Xu, R., Jadali, A., Bernabucci, M., Singh, I., Chen, Y., Tian, J., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01834-x · Cited by 53
Hagihara, H., Shoji, H., Hattori, S., Sala, G., Takamiya, Y., Tanaka, M., Ihara, M., Shibutani, M., Hatada, I., Hori, K., et al. (2023) · eLife · doi:10.7554/elife.89376 · Cited by 53
Wermter, A., Kamp‐Becker, I., Strauch, K., Schulte‐Körne, G., & Remschmidt, H. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30618 · Cited by 53
Fragile x syndrome and autism: from disease model to therapeutic targets
Dölen, G., & Bear, M. F. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9015-x · Cited by 53
Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders
Searles, V. B., Wang, B., & State, M. W. (2020) · Neuropsychopharmacology · doi:10.1038/s41386-020-0768-y · Cited by 53
Mutant Mouse Models of Autism Spectrum Disorders
Provenzano, G., Zunino, G., Genovesi, S., Sgadó, P., & Bozzi, Y. (2012) · Disease Markers · doi:10.1155/2012/916082 · Cited by 53
Lanz, T. A., Guilmette, E., Gosink, M. M., Fischer, J. E., Fitzgerald, L. W., Stephenson, D. T., & Pletcher, M. T. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-45 · Cited by 52
Claudio Toma, A., Amaia Hervas, G., Balmaña, N., Salgado, M., Maristany, M., Vilella, E., Aguilera, F., Orejuela, C., Cuscó, I., Gallastegui, F., et al. (2012) · The World Journal of Biological Psychiatry · doi:10.3109/15622975.2011.602719 · Cited by 52
Bessa, C., Maciel, P., & Rodrigues, A. J. (2013) · Molecular Neurobiology · doi:10.1007/s12035-013-8434-6 · 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
The emerging roles of MicroRNAs in autism spectrum disorders
Fregeac, J., Colleaux, L., & Nguyen, L. S. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.10.018 · Cited by 52
Vieira, M. M., Jeong, J., & Roche, K. W. (2021) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2021.03.001 · Cited by 51
Diversity and Classification of Genetic Variations in Autism Spectrum Disorder
Kereszturi, É. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242316768 · Cited by 51
A Genome-Wide Survey of Transgenerational Genetic Effects in Autism
Tsang, K. M., Croen, L., Torres, A., Kharrazi, M., DeLorenze, G. N., Windham, G. C., Yoshida, C. K., Zerbo, O., & Weiss, L. A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0076978 · Cited by 51
Studying Autism in Rodent Models: Reconciling Endophenotypes with Comorbidities
Argyropoulos, A., Gilby, K. L., & Hill‐Yardin, E. L. (2013) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2013.00417 · Cited by 51
Metabotropic Glutamate Receptors in Central Nervous System Diseases
Golubeva, A. V., Moloney, R. D., O’Connor, R. M., Dinan, T. G., & Cryan, J. F. (2016) · Current Drug Targets · doi:10.2174/1389450116666150316224011 · Cited by 51
Proper synaptic adhesion signaling in the control of neural circuit architecture and brain function
Kim, H. Y., Um, J. W., & Ko, J. (2021) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2020.101983 · Cited by 51
Polymorphisms of candidate genes in Slovak autistic patients
Kelemenova, S., Schmidtova, E., Ficek, A., Celec, P., Kubranska, A., & Ostatnikova, D. (2010) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32833a1eb3 · Cited by 50
Yoshida, T., Yamagata, A., Imai, A., Kim, J., Izumi, H., Nakashima, S., Shiroshima, T., Maeda, A., Iwasawa-Okamoto, S., Azechi, K., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-22059-6 · Cited by 50
Liu, X., Hua, F., Yang, D., Lin, Y., Zhang, L., Ying, J., Sheng, H., & Wang, X. (2022) · Journal of Translational Medicine · doi:10.1186/s12967-022-03625-y · Cited by 50
Zhang, Z., & Sun, Q. (2011) · International review of neurobiology · doi:10.1016/b978-0-12-385198-7.00012-6 · Cited by 50
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
Glycan susceptibility factors in autism spectrum disorders
Dwyer, C. A., & Esko, J. D. (2016) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2016.07.001 · Cited by 50
Onur, T. S., Laitman, A., He, Z., Keyho, R., Kim, H. M., Wang, J. P., Mair, M. L., Wang, H., Li, L., Perez, A. M., et al. (2021) · eLife · doi:10.7554/elife.64564 · Cited by 50
The circular RNA circNlgnmediates doxorubicin-inducedcardiac remodeling and fibrosis
Xu, J., Du, W. W., Wu, N., Li, F., Li, X., Xie, Y., Wang, S., & Yang, B. B. (2022) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2022.03.007 · Cited by 50
Paz, A., Zeev‐Ben‐Mordehai, T., Lundqvist, M., Sherman, E., Mylonas, E., Weiner, L. M., Haran, G., Svergun, D. I., Mulder, F. A. A., Sussman, J. L., et al. (2008) · Biophysical Journal · doi:10.1529/biophysj.107.126995 · Cited by 50
Vaccination, seizures and ‘vaccine damage’
Brown, N. J., Berkovic, S. F., & Scheffer, I. E. (2007) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3280555160 · Cited by 50
Chung, R.-H., Ma, D., Wang, K., Hedges, D. J., Jaworski, J. M., Gilbert, J. R., Cuccaro, M. L., Wright, H. H., Abramson, R. K., Konidari, I., et al. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-18 · Cited by 49
Imaging-Genetics in Autism Spectrum Disorder: Advances, Translational Impact, and Future Directions
Ameis, S. H., & Szatmári, P. (2012) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2012.00046 · Cited by 49
Zhang, B., Seigneur, E. M., Wei, P., Gökçe, Ö., Morgan, J., & Südhof, T. C. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.157 · Cited by 49
Sleep as a translationally-relevant endpoint in studies of autism spectrum disorder (ASD)
Missig, G., McDougle, C. J., & Carlezon, W. A. (2019) · Neuropsychopharmacology · doi:10.1038/s41386-019-0409-5 · Cited by 49
Matuszek, G., & Talebizadeh, Z. (2009) · BMC Medical Genetics · doi:10.1186/1471-2350-10-102 · Cited by 48
Cuevas-Covarrubias, S. A., & González-Huerta, L. M. (2007) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2007.08373.x · Cited by 48
McOmish, C. E., Burrows, E. L., & Hannan, A. J. (2014) · British Journal of Pharmacology · doi:10.1111/bph.12783 · Cited by 48
Constellation autistique, mouvement, temps et pensée
Gepner, B. (2006) · Devenir · doi:10.3917/dev.064.0333 · Cited by 48
Drosophila Neuroligin3 Regulates Neuromuscular Junction Development and Synaptic Differentiation
Xing, G., Gan, G., Chen, D., Sun, M., Yi, J., Lv, H., Han, J., & Xie, W. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.574897 · Cited by 48
Beyond categorical diagnostics in psychiatry: Scientific and medicolegal implications
Anckarsäter, H. S. (2010) · International Journal of Law and Psychiatry · doi:10.1016/j.ijlp.2009.12.001 · Cited by 48
The Social Brain Network and Autism
Misra, V. (2014) · Annals of Neurosciences · doi:10.5214/ans.0972.7531.210208 · Cited by 48
Lesca, G., Till, M., Labalme, A., Vallée, D., Hugonenq, C., Philip, N., Edery, P., & Sanlaville, D. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34004 · Cited by 48
Speed, H. E., Masiulis, I., Gibson, J. R., & Powell, C. M. (2015) · PLoS ONE · doi:10.1371/journal.pone.0140638 · Cited by 48
Chen, H., Li, H., & Wang, D. (2017) · Scientific Reports · doi:10.1038/srep41655 · Cited by 48
Colonic dilation and altered ex vivo gastrointestinal motility in the neuroligin‐3 knockout mouse
Leembruggen, A. J. L., Balasuriya, G. K., Zhang, J., Schokman, S., Swiderski, K., Bornstein, J. C., Nithianantharajah, J., & Hill‐Yardin, E. L. (2019) · Autism Research · doi:10.1002/aur.2109 · Cited by 48
Dufort‐Gervais, J., Provost, C., Charbonneau, L., Norris, C. M., Calon, F., Mongrain, V., & Brouillette, J. (2020) · Scientific Reports · doi:10.1038/s41598-020-63255-6 · Cited by 48
Cast, T. P., Boesch, D. J., Smyth, K. A., Shaw, A. E., Ghebrial, M., & Chanda, S. (2020) · Journal of Neuroscience · doi:10.1523/jneurosci.0404-20.2020 · Cited by 48
Synapse signalling complexes and networks: machines underlying cognition
Grant, S. G. N. (2003) · BioEssays · doi:10.1002/bies.10381 · Cited by 48
BMJ Publishing Group Ltd (2006) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2006.089540 · Cited by 48
De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity
Kuroda, Y., Ohashi, I., Tominaga, M., Saito, T., Nagai, J., Ida, K., Naruto, T., Masuno, M., & Kurosawa, K. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36477 · Cited by 47
PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders
Paemka, L., Mahajan, V. B., Skeie, J. M., Sowers, L. P., Ehaideb, S. N., Gonzalez‐Alegre, P., Sasaoka, T., Tao, H., Miyagi, A., Ueno, N., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0080737 · Cited by 47
Metadata
- Authors
- 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., Gillberg, C., & Bourgeron, T.
- Affiliations
- Inserm (FR)
- University of Gothenburg (SE)
- St George's Hospital (GB)
- Corresponding author
- Bourgeron, Thomas
- ORCID
- Venue
- Nature Genetics
- Published
- 2003-03-31
- Volume
- 34
- Issue
- 1
- Pages
- 27-29
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC1925054
- OpenAlex
- W2125147395
- Cited by
- 1,851
- References
- 18
- Citations by year
- 2026: 32 · 2025: 36 · 2024: 47 · 2023: 60 · 2022: 79 · 2021: 80 · 2020: 78 · 2019: 55 · 2018: 75 · 2017: 94 · 2016: 82 · 2015: 99 · 2014: 97 · 2013: 114 · 2012: 131
- FWCI
- 30.13
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Funders
- Institut National de la Santé et de la Recherche Médicale
- Orange
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- autism spectrum disorder, neuroligin-3, neuroligin 4, X-linked mutations, X-linked inheritance, siblings, synaptogenesis, synapses, adhesion molecules, genetic etiology of autism
- MeSH terms
- Amino Acid Sequence, Autistic Disorder, Base Sequence, Brain, Carrier Proteins, Female, Humans, Genetic Linkage, Male, Membrane Proteins, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Pedigree, RNA, Messenger, Cell Adhesion Molecules, Neuronal, Sequence Homology, Amino Acid, DNA, Complementary, Gene Expression Profiling, Chromosomes, Human, X
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
