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Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells

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Genetics and the Language Sciences

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Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities

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Assessing the developmental trajectory of mouse models of neurodevelopmental disorders: Social and communication deficits in mice with Neurexin 1α deletion

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Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality

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Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

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DSCAM Deficiency Leads to Premature Spine Maturation and Autism-like Behaviors

Chen, P., Liu, Z., Zhang, Q., Dong, L., Song, L., Liu, J., Jiao, H., Lai, X., Zou, S., Wang, S., et al. (2021) · Journal of Neuroscience · doi:10.1523/jneurosci.1003-21.2021 · Cited by 40 · see citing works

Incomplete penetrance of NRXN1 deletions in families with schizophrenia

Todarello, G., Feng, N., Kolachana, B. S., Li, C., Vakkalanka, R., Bertolino, A., Weinberger, D. R., & Straub, R. E. (2014) · Schizophrenia Research · doi:10.1016/j.schres.2014.02.023 · Cited by 39 · see citing works

Neuroligin 2 regulates absence seizures and behavioral arrests through GABAergic transmission within the thalamocortical circuitry

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Synaptic basis of social dysfunction: a focus on postsynaptic proteins linking group‐ I m G lu R s with AMPAR s and NMDAR s

O’Connor, E. C., Bariselli, S., & Bellone, C. (2014) · European Journal of Neuroscience · doi:10.1111/ejn.12510 · Cited by 38 · see citing works

A molecular model for neurodevelopmental disorders

Gigek, C. O., Chen, E., Ota, V., Maussion, G., Peng, H., Vaillancourt, K., Diallo, A., López, J. P., Crapper, L., Vasuta, C., et al. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.56 · Cited by 38 · see citing works

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

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 · see citing works

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

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A 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 37 · see citing works

New innovations: Therapeutic opportunities for intellectual disabilities

Picker, J. D., & Walsh, C. A. (2013) · Annals of Neurology · doi:10.1002/ana.24002 · Cited by 34 · see citing works

Maternal immune activation targeted to a window of parvalbumin interneuron development improves spatial working memory: Implications for autism

Nakamura, J., Gillespie, B., Gibbons, A. S., Jaehne, E. J., Du, X., Chan, A., Schroeder, A., van den Buuse, M., Sundram, S., & Hill, R. (2020) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2020.10.012 · Cited by 32 · see citing works

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 32 · see citing works

A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies

Liu, Y., Liang, Y., Çiçek, A. E., Li, Z., Li, J., Muhle, R., Krenzer, M., Mei, Y., Wang, Y., Knoblauch, N., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.03.023 · Cited by 32 · see citing works

Identification of Candidate Single-Nucleotide Polymorphisms in NRXN1 Related to Antipsychotic Treatment Response in Patients with Schizophrenia

Jenkins, A. K., Apud, J. A., Zhang, F., Decot, H., Weinberger, D. R., & Law, A. J. (2014) · Neuropsychopharmacology · doi:10.1038/npp.2014.65 · Cited by 31 · see citing works

Meta-analysis of epigenome-wide association studies of major depressive disorder

Li, Q. S., Morrison, R. L., Turecki, G., & Drevets, W. C. (2022) · Scientific Reports · doi:10.1038/s41598-022-22744-6 · Cited by 30 · see citing works

Deciphering the functional specialization of whole-brain spatiomolecular gradients in the adult brain

Vogel, J. W., Alexander-Bloch, A. F., Wagstyl, K., Bertolero, M. A., Markello, R. D., Pines, A., Sydnor, V. J., Diaz-Papkovich, A., Hansen, J. Y., Evans, A. C., et al. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2219137121 · Cited by 34 · see citing works

Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review

Cooper, J. N., Mittal, J., Sangadi, A., Klassen, D. L., King, A. M., Zalta, M., Mittal, R., & Eshraghi, A. A. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13072067 · Cited by 28 · see citing works

Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depressionPreprint

Rochtus, A. M., Trowbridge, S. K., Goldstein, R. D., Sheidley, B. R., Prabhu, S. P., Haynes, R. L., Kinney, H. C., & Poduri, A. (2019) · Molecular Case Studies · doi:10.1101/mcs.a003442 · Cited by 26 · see citing works

Copy number variants in neurexin genes: phenotypes and mechanisms

Fuccillo, M. V., & Pak, C. (2021) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2021.02.010 · Cited by 25 · see citing works

Rare copy number variants are common in young children with autism spectrum disorder

Eriksson, M. A., Liedén, A., Westerlund, J., Bremer, A., Wincent, J., Sahlin, E., Gillberg, C., Fernell, E., & Anderlid, B. (2015) · Acta Paediatrica · doi:10.1111/apa.12969 · Cited by 23 · see citing works

The clinical relevance of intragenic NRXN1 deletions

Cosemans, N., Vandenhove, L., Vogels, A., Devriendt, K., Esch, H. V., Buggenhout, G. V., Olivié, H., de Ravel, T. J. L., Ortibus, E., Legius, E., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106448 · Cited by 22 · see citing works

Bridging the translational gap: what can synaptopathies tell us about autism?

Molloy, C. J., Cooke, J., Gatford, N. J. F., Rivera-Olvera, A., Avazzadeh, S., Homberg, J. R., Grandjean, J., Fernandes, C., Shen, S., Loth, E., et al. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2023.1191323 · Cited by 23 · see citing works

Copy number variation in a hospital‐based cohort of children with epilepsy

Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Giannini, L., Dijkhuizen, T., Brouwer, O. F., & van Ravenswaaij‐Arts, C. M. A. (2017) · Epilepsia Open · doi:10.1002/epi4.12057 · Cited by 19 · see citing works

NRXN1 Deletion and Exposure to Methylmercury Increase Astrocyte Differentiation by Different Notch-Dependent Transcriptional Mechanisms

Raciti, M., Salma, J., Spulber, S. D., Gaudenzi, G., Khalajzeyqami, Z., Conti, M., Anderlid, B., Falk, A., Hermanson, O., & Ceccatelli, S. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00593 · Cited by 18 · see citing works

Social behavior in prepubertal neurexin 1α deficient rats: A model of neurodevelopmental disorders.

Kight, K. E., Argue, K. J., Bumgardner, J. G., Bardhi, K., Waddell, J., & McCarthy, M. M. (2021) · Behavioral Neuroscience · doi:10.1037/bne0000482 · Cited by 17 · see citing works

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1

Agha, Z., Iqbal, Z., Azam, M., Siddique, M., Willemsen, M. H., Kleefstra, T., Zweier, C., de Leeuw, N., Qamar, R., & van Bokhoven, H. (2014) · Gene · doi:10.1016/j.gene.2014.01.027 · Cited by 16 · see citing works

Neurexin 1 variants as risk factors for suicide death

William, N., Reißner, C., Sargent, R., Darlington, T. M., DiBlasi, E., Li, Q. S., Keeshin, B. R., Callor, W. B., Ferris, E., Jerominski, L., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01190-2 · Cited by 15 · see citing works

Distinct neurexin isoforms cooperate to initiate and maintain foraging activity

Bastien, B. L., Cowen, M. H., & Hart, M. P. (2023) · Translational Psychiatry · doi:10.1038/s41398-023-02668-z · Cited by 14 · see citing works

Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

Wang, J., Mahon, L. W., Ross, L. P., Anguiano, A. L., Owen, R. X., & Boyar, F. Z. (2016) · Molecular Cytogenetics · doi:10.1186/s13039-016-0291-3 · Cited by 14 · see citing works

Contemplating syndromic autism

Vorstman, J. A. S., & Scherer, S. W. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100919 · Cited by 15 · see citing works

Characterization of speech and language phenotype in children with NRXN1 deletions

Brignell, A., John, M. S., Boys, A., Bruce, A., Dinale, C., Pigdon, L., Hildebrand, M. S., Amor, D. J., & Morgan, A. T. (2018) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32664 · Cited by 14 · see citing works

Bi-allelic NRXN1α deletion in microglia derived from iPSC of an autistic patient increases interleukin-6 production and impairs supporting function on neuronal networking

Bose, R., Posada-Pérez, M., Karvela, E., Škandík, M., Keane, L., Falk, A., Spulber, S. D., Joseph, B., & Ceccatelli, S. (2024) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2024.09.001 · Cited by 13 · see citing works

Mutation Screening of the Neurexin 1 Gene in Thai Patients with Intellectual Disability and Autism Spectrum Disorder

Yangngam, S., Plong-On, O., Sripo, T., Roongpraiwan, R., Hansakunachai, T., Wirojanan, J., Sombuntham, T., Ruangdaraganon, N., & Limprasert, P. (2014) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2014.0003 · Cited by 13 · see citing works

Dual genetic diagnoses: Atypical hand‐foot‐genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1

Wallis, M., Tsurusaki, Y., Burgess, T., Borzi, P., Matsumoto, N., Miyake, N., True, D., & Patel, C. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37478 · Cited by 13 · see citing works

Loss of neurexin-1 in Drosophila melanogaster results in altered energy metabolism and increased seizure susceptibility

Levy, K. A., Weisz, E. D., & Jongens, T. A. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac115 · Cited by 12 · see citing works

Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders

Çelebi, H. B. G., Bolat, H., & Ünsel‐Bolat, G. (2024) · Developmental Neurobiology · doi:10.1002/dneu.22941 · Cited by 12 · see citing works

The complex genetics in autism spectrum disorders

Hua, R., Wei, M., & Zhang, C. (2015) · Science China Life Sciences · doi:10.1007/s11427-015-4893-5 · Cited by 11 · see citing works

Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1 : Report of five new cases

Alfieri, P., Scibelli, F., Sinibaldi, L., Valeri, G., Caciolo, C., Novello, R. L., Novelli, A., Digilio, M. C., Tartaglia, M., & Vicari, S. (2020) · Genes Brain & Behavior · doi:10.1111/gbb.12687 · Cited by 8 · see citing works

Association study between the neurexin‐1 gene and tardive dyskinesia

Lanning, R., Lett, T. A. P., Tiwari, A. K., Brandl, E. J., Luca, V. D., Voineskos, A. N., Potkin, S. G., Lieberman, J. A., Meltzer, H. Y., Müller, D. J., et al. (2017) · Human Psychopharmacology Clinical and Experimental · doi:10.1002/hup.2568 · Cited by 7 · see citing works

Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings

Uzunhan, T. A., & Ayaz, A. (2022) · Clinical Neurology and Neurosurgery · doi:10.1016/j.clineuro.2022.107141 · Cited by 6 · see citing works

Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology

Montalbano, S., Krebs, M. D., Rosengren, A., Vaez, M., Hellberg, K.-L. G., Mortensen, P. B., Børglum, A. D., Geschwind, D. H., iPSYCH Investigators, Hougaard, D. M., et al. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00450-8 · Cited by 6 · see citing works

Case Report—An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions

Feichtinger, R. G., Preisel, M., Brugger, K., Wortmann, S. B., & Mayr, J. A. (2023) · Genes · doi:10.3390/genes14061217 · Cited by 6 · see citing works

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders

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 · see citing works

NRXN1 Deletion in Two Twins’ Genotype and Phenotype: A Clinical Case and Literature Review

Sciacca, M., Marino, L., Vitaliti, G., Falsaperla, R., & Marino, S. (2022) · Children · doi:10.3390/children9050698 · Cited by 5 · see citing works

The Role of Inflammation in Autism Spectrum Disorder

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Targeted splicing approach for alleviation of a neurexin 1 haploinsufficiency model

Lu, H. P., Roddick, K. M., Ge, Y., Zuo, L., Zhang, P., Lam, O., Marsh, K., Wong, R., Brown, R. E., & Craig, A. M. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03017-w · Cited by 4 · see citing works

Alpha-neurexins in health and disease

Chofflet, N., Wang, M., Chofflet, M., & Takahashi, H. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1716782 · Cited by 4 · see citing works

Clinical phenotypic spectrum of NRXN1 microdeletions and their association with epilepsy: A systematic review and meta‐analysis

Guo, X., Wang, C., Long, D., Zhang, H., Yin, S., Peng, X., Liu, Y., Chen, S., Liu, Y., Huang, W., et al. (2025) · Epilepsia · doi:10.1111/epi.18337 · Cited by 4 · see citing works

Impact of copy number variants in epilepsy plus neurodevelopment disorders

João, S., Quental, R., Pinto, J., Almeida, C., Santos, H., & Dória, S. (2024) · Seizure · doi:10.1016/j.seizure.2024.01.009 · Cited by 4 · see citing works

Genetic mechanisms of neurodevelopmental disorders

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Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age

Brownstein, C. A., Douard, E. A., Haynes, R. L., Koh, H. Y., Haghighi, A., Keywan, C., Martin, B. E., Alexandrescu, S., Haas, E. A., Vargas, S. O., et al. (2022) · Advanced Genetics · doi:10.1002/ggn2.202200012 · Cited by 4 · see citing works

Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing

Li, W., Xie, X., Chai, H., DiAdamo, A., Bistline, E. M., Li, P., Dai, Y., Knight, J., Avni-Singer, A. J., Burger, J., et al. (2025) · Genes · doi:10.3390/genes16080874 · Cited by 3 · see citing works

Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1

Benítez‐Burraco, A., Jiménez-Romero, M. S., & Fernández-Urquiza, M. (2022) · Molecular Syndromology · doi:10.1159/000524710 · Cited by 3 · see citing works

The frequency of CNV s in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

Rudolf, G., Lovrečić, L., Tul, N., Teran, N., & Peterlin, B. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.658 · Cited by 3 · see citing works

Distinct synaptic mechanisms underlie NRXN1 variant and disorder background-dependent phenotypes in iPSC-derived neurons

English, J., McSweeney, D., Geng, J., Howell, E., Ribbe, F., Hinderhofer, M., Proskauer, L., Sebastian, R., Wang, L., Sharf, T., et al. (2026) · Cell Reports · doi:10.1016/j.celrep.2026.117115 · Cited by 2 · see citing works

Synapse Proteomes and Disease

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Regulation and postsynaptic binding of neurexins — drug targets for neurodevelopmental and neuropsychiatric disorders

Ding, Y., Howard, L., Gallagher, L., & Shen, S. (2015) · Frontiers in Biology · doi:10.1007/s11515-015-1363-1 · Cited by 2 · see citing works

The Molecular Convergence of Birdsong and Speech

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Modeling Autism Spectrum Disorders Motor Deficits in Mice

Roubertoux, P. L., & Bartoli, C. (2014) · Neuromethods · doi:10.1007/978-1-4939-2250-5_15 · Cited by 1 · see citing works

NRXN1-related disorders, attempt to better define clinical assessment

Pavone, P., Pappalardo, X. G., Parano, C., Falsaperla, R., Corsello, A., Parano, E., Polizzi, A., & Ruggieri, M. (2024) · Open Medicine · doi:10.1515/med-2024-0979 · Cited by 1 · see citing works

Thalamic NRXN1-Mediated Input to Human Cortical Progenitors Drives Upper Layer NeurogenesisPreprint

Nguyen, C. V., Martija, A. A., Nano, P. R., Soto, J., Jaklic, D. C., Mil, J., White, R., Martín, J. M., Rana, D., Geschwind, D. H., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.04.25.650717 · Cited by 1 · see citing works

Distinct Synaptic Mechanisms Drive NRXN1 Variant-Mediated Pathogenesis in iPSC-Derived Neuronal Models of Autism and SchizophreniaPreprint

English, J., McSweeney, D., Geng, J., Howell, E., Ribbe, F., Hinderhofer, M., Proskauer, L., Sebastian, R., Wang, L., Sharf, T., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.07.18.664735 · Cited by 1 · see citing works

Allele-specific rescue of neurexin behavioral phenotypes by monoamine-targeting compoundsPreprint

Smisko, W. R., Haury, W. R., Perni, M., Kalik, R., Palo, J., Bastien, B. L., Bilchak, J. N., Khadour, R., Jongens, T. A., Kayser, M. S., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.02.06.703315 · Cited by 1 · see citing works

Genetic study of NRXN1β variants in Spanish patients with schizophrenia

Abasolo-Zabalo, N., Roig, B., Martorell, L., Martínez‐Leal, R., Aguilera, F., Camacho-Garcia, R. J., Orejuela, C., Scholl, F. G., Martı́nez-Mir, A., & Vilella, E. (2014) · Schizophrenia Research · doi:10.1016/j.schres.2014.09.002

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

Schaaf, C. P., Boone, P. M., Sampath, S., Williams, C. A., Bader, P. I., Mueller, J. M., Shchelochkov, O. A., Brown, C., Crawford, H. P., Phalen, J. A., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.95 · Cited by 122 · see citing works

Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders

Ching, M. S. L., Shen, Y., Tan, W., Jeste, S., Morrow, E. M., Chen, X., Mukaddes, N. M., Yoo, S.-Y., Hanson, E. M., Hundley, R. J., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31063 · Cited by 298 · see citing works

Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings

Uzunhan, T. A., & Ayaz, A. (2022) · Clinical Neurology and Neurosurgery · doi:10.1016/j.clineuro.2022.107141 · Cited by 6 · see citing works

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Lowther, C., Speevak, M. D., Armour, C. M., Goh, E. S., Graham, G. E., Li, C. C., Zeesman, S., Nowaczyk, M. J. M., Schultz, L., Morra, A., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.54 · Cited by 91 · see citing works

Investigation ofNRXN1deletions: Clinical and molecular characterization

Dabell, M. P., Rosenfeld, J. A., Bader, P. I., Escobar, L., El‐Khechen, D., Vallee, S. E., Dinulos, M. B., Curry, C. J., Fisher, J., Tervo, R. C., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35780 · Cited by 108 · see citing works