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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

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Structural Variation of Chromosomes in Autism Spectrum Disorder

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Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

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Association between Microdeletion and Microduplication at 16p11.2 and Autism

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Genomewide Association Studies and Assessment of the Risk of Disease

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Genetic Mapping in Human Disease

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

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On the allelic spectrum of human disease

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mTOR signaling: At the crossroads of plasticity, memory and disease

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Common genetic variants on 5p14.1 associate with autism spectrum disorders

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Genetic Heterogeneity in Human Disease

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Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

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Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome

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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

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The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood

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Identifying autism loci and genes by tracing recent shared ancestry

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Recurrent 16p11.2 microdeletions in autism

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Essential roles of Notch signaling in maintenance of neural stem cells in developing and adult brains

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Microduplications of 16p11.2 are associated with schizophrenia

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Impaired hippocampal–prefrontal synchrony in a genetic mouse model of schizophrenia

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A genome-wide linkage and association scan reveals novel loci for autism

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A genome-wide scan for common alleles affecting risk for autism

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A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

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The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes

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Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

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A common allele in the oxytocin receptor gene ( <i>OXTR</i> ) impacts prosocial temperament and human hypothalamic-limbic structure and function

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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

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Dysregulation of mTOR signaling in fragile X syndrome

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Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

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Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

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Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

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Regulation of PI3-kinase/Akt signaling by muscle-enriched microRNA-486

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Clinical Genetic Testing for Patients With Autism Spectrum Disorders

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Immune transcriptome alterations in the temporal cortex of subjects with autism

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De novo mutations in the gene encoding the synaptic scaffolding protein <i>SHANK3</i> in patients ascertained for schizophrenia

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Contributions of the environment and environmentally vulnerable physiology to autism spectrum disorders

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The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

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Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, <i>RORA</i> , whose protein product is reduced in autistic brain

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Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

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Novel de novo SHANK3 mutation in autistic patients

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

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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

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Heterogeneous dysregulation of microRNAs across the autism spectrum

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder.

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Autism Spectrum Disorders and Epigenetics

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Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

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Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder

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Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines

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Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1

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Genetics of autistic disorders: review and clinical implications

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Gene expression profiling differentiates autism case–controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism

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Connecting Genes to Brain in the Autism Spectrum Disorders

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Disruption at the <i>PTCHD1</i> Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

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Autism: A world changing too fast for a mis-wired brain?

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Penetrance for copy number variants associated with schizophrenia

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Gene and miRNA expression profiles in autism spectrum disorders

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Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome

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Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

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The Genetics of Autism: Key Issues, Recent Findings, and Clinical Implications

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The genetics of neurodevelopmental disease

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The genetics of child psychiatric disorders: focus on autism and Tourette syndrome

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Behaviors Associated With Fever in Children With Autism Spectrum Disorders

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Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism

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SOX E genes: SOX9 and SOX8 in mammalian testis development

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Autism genetics: strategies, challenges, and opportunities

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Rethinking the nature of genetic vulnerability to autistic spectrum disorders

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Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.

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Copy-number variants in neurodevelopmental disorders: promises and challenges

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Mechanism-based approaches to treating fragile X

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From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis

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The Genetic Basis of Complex Traits

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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

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Mutation screening of melatonin-related genes in patients with autism spectrum disorders

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Identification of Pathway-Biased and Deleterious Melatonin Receptor Mutants in Autism Spectrum Disorders and in the General Population

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Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: Genetic and molecular studies

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Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome

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Dissecting the Clinical Heterogeneity of Autism Spectrum Disorders through Defined Genotypes

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Neuregulin 2 Is a Candidate Gene for Autism Spectrum Disorder

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Sociocultural and perinatal health factors associated with Autism spectrum disorder (ASD) in children

Myat, P., John, J. R., Montgomery, A. K., & Eapen, V. (2025) · Comprehensive Psychiatry · doi:10.1016/j.comppsych.2025.152576 · Cited by 3 · see citing works

The development of MMN

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.003.0003 · Cited by 3 · see citing works

The Controversy That Will Not Go Away: Vaccines and Autism

Chatterjee, A. (2013) · Springer eBooks · doi:10.1007/978-1-4614-7438-8_10 · Cited by 3 · see citing works

Contribution of chromosomal abnormalities at 10q and 22q to autism

Meguid, N. A., Eid, M. M., Mohamed, A. M., Ghannoum, H., Helmy, N. A., & Eid, O. M. (2018) · Research in Autism · doi:10.1016/j.rasd.2018.03.003 · Cited by 3 · see citing works

An Evolutionary Biology Approach to Understanding Neurological Disorders

Aziz, A., Ilievska, J., Paul, R., & Naomi, E. (2012) · InTech eBooks · doi:10.5772/37919 · Cited by 2 · see citing works

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 · see citing works

Autism Symptoms Exist but the Disorder Remains Elusive

Waterhouse, L. H. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-415961-7.00008-3 · Cited by 1 · see citing works

Pathways from Genes to Symptoms in Tourette Syndrome

Eapen, V., Perkes, I. E., & Golf, R. (2022) · Oxford University Press eBooks · doi:10.1093/med/9780197543214.003.0018 · Cited by 1 · see citing works

Genes involved in cholesterol cascades are linked to brain connectivity in one third of autistic patientsPreprint

Rasero, J., Jiménez-Marín, A., Diez, I. P., Hasan, M. T., & Cortés, J. M. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.09.18.304055 · Cited by 1 · see citing works

Electrophysiological Endophenotypes in Autism Spectrum Disorder: A Family Study

Clawson, A. (2015) · ScholarsArchive (Brigham Young University)

Complementary Medicine Products Used in Autism - Evidence for Rationale

Semple, S. J., Hewton, C., Paterson, F., & Angley, M. T. (2011) · InTech eBooks · doi:10.5772/17357

Autism and Dia1 Family: Cellular Secretory Pathway

Aziz, A., Karmi, T., & Bishop, N. E. (2013) · Springer eBooks · doi:10.1007/978-1-4614-4788-7_80

A Functional Connectivity-Based Classification Approach To Autism Spectrum Disorder: Only As Good (Or Bad) As Available Diagnostic Criteria

Müller, R., Shih, P., & Keown, C. L. (2012) · Future Neurology · doi:10.2217/fnl.12.18

Variações de novo e raras no genoma de pacientes com transtornos do espectro do autismo verbais e não verbais

Reis, V. N. D. S. (2014) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.5.2014.tde-08122014-121628

Genetic Aspects of the Broad Autism Phenotype

(2015) · Advances in special education · doi:10.1108/s0270-401320150000029011

Otistik spektrum bozukluklarinda SLC6A4 geni ekspresyonunun araştirilmasi Investigation of SLC6A4 gene expression in autism spectrum disorders

Funda, E., Korkmaz, K., Öztop, D. B., & Özkul, Y. (2015)

How to record and analyse MMN

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.003.0002

The quality of therapeutic alliance in a parent-mediated intervention for autism

Taylor, C. (2015) · Research Explorer (The University of Manchester)

Concluding discussion

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.003.0008

Aging

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.003.0005

Developmental disorders

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.003.0004

Psychiatric disorders

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.003.0007

Neurological disorders

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.003.0006

Expression Profiles Of PTEN And POGZ Genes In Patients With Autism

TEZCAN, T., Şener, E. F., Demi̇rci̇, E., Şahın, N., Hamurcu, Z., & Öztop, D. B. (2022) · Acta Medica Alanya · doi:10.30565/medalanya.1148353

List of abbreviations

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.002.0007

Copyright Page

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.002.0003

Dedication

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.002.0010

Preface

Näätänen, R., Kujala, T., & Light, G. A. (2019) · Oxford University Press eBooks · doi:10.1093/oso/9780198705079.002.0005

Cognitive, Behavioural and Communication Correlates of Dysregulation in Australian Autistic Preschoolers

Wu, W. T., John, J. R., Diaz, A. M., Dissanayake, C., & Eapen, V. (2026) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-026-07387-0

Additional file 1 of Association between MTHFR C677T/A1298C and susceptibility to autism spectrum disorders: a meta-analysis

Li, Y., Qiu, S., Shi, J., Guo, Y., Li, Z., Cheng, Y., & Liu, Y. (2020) · Figshare · doi:10.6084/m9.figshare.13004132

Genetics of autism spectrum disorders: a long road to pass

Alhejaily, A.-M., & Alfadhel, M. (2019) · Journal of Biochemical and Clinical Genetics · doi:10.24911/jbcgenetics/183-1571295180

Etiological Heterogeneity in Autism Spectrum Disorders

Betancur, C., & Coleman, M. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00008-9 · Cited by 27 · see citing works

Etiological heterogeneity in autism spectrum disorders: role of rare variants

Betancur, C., & Coleman, M. (2013) · HAL · Cited by 2 · see citing works

Genetic research in autism spectrum disorders

Robinson, E. B., Neale, B. M., & Hyman, S. E. (2015) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000278 · Cited by 60 · see citing works

Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications

Yoo, H. (2015) · Experimental Neurobiology · doi:10.5607/en.2015.24.4.257 · Cited by 157 · see citing works