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Genetics in the ADHD Clinic: How Can Genetic Testing Support the Current Clinical Practice?

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Shared and Distinct Topologically Structural Connectivity Patterns in Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder

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Neurodevelopmental model of schizophrenia revisited: similarity in individual deviation and idiosyncrasy from the normative model of whole-brain white matter tracts and shared brain-cognition covariation with ADHD and ASD

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FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability

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Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder

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Deficiency of transmembrane AMPA receptor regulatory protein γ-8 leads to attention-deficit hyperactivity disorder-like behavior in mice

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A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder

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Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila

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Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub

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A burden of rare copy number variants in obsessive-compulsive disorder

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Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders

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Genetics of strabismus

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Rare genetic variants confer a high risk of ADHD and implicate neuronal biology

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Clinical features and comorbidity in very early-onset schizophrenia: a systematic review

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The pleiotropic spectrum of proximal 16p11.2 CNVs

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

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Mother and child mental health over time in children with Autism and/or ADHD in the Longitudinal Study of Australian Children

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Evaluation of causality between ADHD and Parkinson's disease: Mendelian randomization study

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Update on genetics of attention deficit/hyperactivity disorder: current status 2023

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NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat

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Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders

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Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation

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Gestational and lactational exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin in mice: Neurobehavioral effects on female offspring

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16p11.2 deletion mice exhibit compromised fronto-temporal connectivity, GABAergic dysfunction, and enhanced attentional ability

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Genetic Overlap Among Autism Spectrum Disorders and Other Neuropsychiatric Disorders

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Adult ADHD: it is old and new at the same time – what is it?

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The translational genetics of ADHD and related phenotypes in model organisms

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Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVsPreprint

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Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review

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Rare copy number variants in males and females with childhood attention-deficit/hyperactivity disorder

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Latent Structure of Combined Autistic and ADHD Symptoms in Clinical and General Population Samples: A Scoping Review

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Translational Study of Copy Number Variations in Schizophrenia

Cheng, M.-C., Chien, W., Huang, Y., Fang, T.-H., & Chen, C. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms23010457 · Cited by 10 · see citing works

Genome Guided Personalized Drug Therapy in Attention Deficit Hyperactivity Disorder

Haavik, J. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2022.925442 · Cited by 11 · see citing works

A maturational shift in the frontal cortex synaptic transcriptional landscape underlies schizophrenia-relevant behavioural traits: A congenital rat model

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Early Manifestations of Neurodevelopmental Copy Number Variants in Children: A Population-Based Investigation

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Re-Inventing the Dsm as A Transdiagnostic Model: Psychiatric Disorders Are Extensively Interconnected

Nasrallah, H. A. (2021) · Annals of Clinical Psychiatry · doi:10.12788/acp.0037 · Cited by 9 · see citing works

Risks of major mental disorders after parental death in children, adolescents, and young adults and the role of premorbid mental comorbidities: a population-based cohort study

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Mindfulness for Autism

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Psychosocial implications of living with familial risk of a psychiatric disorder and attitudes to psychiatric genetic testing: A systematic review of the literature

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What Have We Learned About the Genetics of Obsessive-Compulsive and Related Disorders in Recent Years?

Mattheisen, M., Pato, M. T., Pato, C. N., & Knowles, J. A. (2021) · FOCUS The Journal of Lifelong Learning in Psychiatry · doi:10.1176/appi.focus.20210017 · Cited by 7 · see citing works

Blood miRNA levels associated with ADHD traits in children across six European birth cohorts

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Maternal Schizophrenia and the Risk of a Childhood Chronic Condition

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ADHD: Progressing From Genetic Discoveries to Biological Insights

Thapar, A. (2020) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2020.20070961 · Cited by 7 · see citing works

Unraveling the link between CNVs, cognition and individual neuroimaging deviation scores from a population-based reference cohort

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Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly

Yue, F., Yang, X., Liu, N., Liu, R., & Zhang, H. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1349171 · Cited by 6 · see citing works

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

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Rare copy number variation in posttraumatic stress disorder

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Genetics of Attention-Deficit Hyperactivity Disorder

Langley, K., Martin, J., & Thapar, A. (2022) · Current topics in behavioral neurosciences · doi:10.1007/7854_2022_338 · Cited by 6 · see citing works

Genetic modulation of brain dynamics in neurodevelopmental disorders: the impact of copy number variations on resting-state EEG

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Not one thing at a time: When concomitant multiple stressors produce a transdiagnostic clinical picture

Ferber, S. G., Shoval, G., Weller, A., & Zalsman, G. (2023) · World Journal of Psychiatry · doi:10.5498/wjp.v13.i7.402 · Cited by 5 · see citing works

Population-based Risk of Psychiatric Disorders Associated with Recurrent CNVsPreprint

Vaez, M., Montalbano, S., Sánchez, X. C., Hellberg, K.-L. G., Dehkordi, S. R., Krebs, M. D., Meijsen, J. J., Shorter, J. R., Byberg-Grauholm, J., Mortensen, P. B., et al. (2023) · medRxiv · doi:10.1101/2023.09.04.23294975 · Cited by 5 · see citing works

Unraveling the Link between CNVs, General Cognition, and Individual Neuroimaging Deviation Scores from a Reference CohortPreprint

Fraza, C., Sønderby, I. E., Bøen, R., Shi, Y., Beckmann, C. F., & Marquand, A. F. (2023) · medRxiv · doi:10.1101/2023.11.29.23298954 · Cited by 5 · see citing works

Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders

Azidane, S., Gallego, X., Durham, L., Cáceres, M., Güney, E., & Pérez‐Cano, L. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100316 · Cited by 5 · see citing works

Copy Number Variants: Deletion and Duplication Syndromes

Harner, M. K., Bishop, D. V., Pollak, R. M., Purcell, R. H., & Mullé, J. G. (2025) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-121222-120601 · Cited by 4 · see citing works

A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder–Associated Copy Number Variations

Chang, X., Qu, H., Liu, Y., Glessner, J., & Hakonarson, H. H. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.10.011 · Cited by 4 · see citing works

Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium

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Higher scores on autonomic symptom scales in pediatric patients with neurodevelopmental disorders of known genetic etiology

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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

Evaluating the Joint Effects of Recurrent Copy Number Variants and Polygenic Scores on the Risk of Psychiatric Disorders in the iPSYCH2015 Case-Cohort SamplePreprint

Vaez, M., Montalbano, S., Waples, R. K., Krebs, M. D., Hellberg, K.-L. G., Gådin, J. R., Bybjerg‐Grauholm, J., Mortensen, P. B., Børglum, A. D., Nordentoft, M., et al. (2024) · medRxiv · doi:10.1101/2024.09.23.24314234 · Cited by 4 · see citing works

Genomics of Attention Deficit Hyperactivity Disorder: What the Clinician Needs to Know.

Haavik, J. (2025) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2025.01.011 · Cited by 3 · see citing works

Examining neurodevelopmental problems in 15q11.2 ( BP1‐BP2 ) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample

Jönsson, L., Martin, J., Lichtenstein, P., Magnusson, P. K. E., Lundström, S., Westberg, L., & Tammimies, K. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2191 · Cited by 3 · see citing works

Combining multivariate genomic approaches to elucidate the comorbidity between ASD and ADHDPreprint

Peyre, H., Schoeler, T., Liu, C.-Y., Williams, C. M., Hoertel, N., Havdahl, A., & Pingault, J. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.04.22.054825 · Cited by 3 · see citing works

A pattern-learning algorithm associates copy number variations with brain structure and behavioural variables in an adolescent population cohort

Kopál, J., Huguet, G., Marotta, J., Aggarwal, S., Osayande, N., Kumar, K., Saci, Z., Jean‐Louis, M., Chai, X. J., Ge, T., et al. (2025) · Nature Biomedical Engineering · doi:10.1038/s41551-025-01454-0 · Cited by 3 · see citing works

Pleiotropy of Copy Number Variation in Human Genome

Кашеварова, А. А., Drozdov, G. V., Fedotov, D. A., & Лебедев, И. Н. (2022) · Russian Journal of Genetics · doi:10.1134/s1022795422100040 · Cited by 2 · see citing works

Role of Copy Number Variations in ADHD

Krgovic, D. (2020) · ADHD [Working Title] · doi:10.5772/intechopen.94383 · Cited by 2 · see citing works

A Burden of Rare Copy Number Variants in Obsessive-Compulsive DisorderPreprint

Halvorsen, M., de Schipper, E. J., Boberg, J., Strom, N. I., Hagen, K., Lindblad‐Toh, K., Karlsson, E. K., Pedersen, N. L., Bulik, C. M., Fundín, B. T., et al. (2024) · Research Square · doi:10.21203/rs.3.rs-3749504/v1 · Cited by 2 · see citing works

Gene editing in “cell villages” enables exploring disease-relevant mutations in many genetic backgroundsPreprint

Battaglia, R. A., Bolshakova, S., Mazureac, I., Liyanage, D., Pettinari, N. L., Johnson, A., Crouse, E., Habib, S., Flessas, I., Nadig, A., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.11.08.687374 · Cited by 3 · see citing works

Exploring Copy Number Variants in a Cohort of Children Affected by ADHD: Clinical Investigation and Translational Insights

Mirabella, F., Finocchiaro, V., Figura, M. G., Galesi, O., Elia, M., Buono, S., Barone, R. M. E., & Rizzo, R. (2025) · Genes · doi:10.3390/genes16091020 · Cited by 1 · see citing works

Mitochondrial Dysfunction in Autism and Attention-Deficit/Hyperactivity Disorder: Evidence from Genetic, Biochemical, and Neuroimaging Approaches

Ram, T. R., Mu, C., MacEachern, S. J., & Shearer, J. (2026) · Antioxidants · doi:10.3390/antiox15060764 · Cited by 2 · see citing works

International study of the Complex Stress Reaction Syndrome: Implications for transdiagnostic clinical practice

Ferber, S. G., Weller, A., Hayes, A. M., Vannorsdall, T. D., Ajlouni, Y., Qudah, M., Zalsman, G., Shoval, G., Jannini, T. B., Fiedler, R., et al. (2023) · World Journal of Psychiatry · doi:10.5498/wjp.v13.i10.803 · Cited by 1 · see citing works

A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia

Guo, X., Guo, J., Liu, X., & Hu, T. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1612654 · Cited by 1 · see citing works

The contribution of common and rare genetic variation to emotional and behavioural symptoms in childhood and adolescence

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Association of complex traits with common genetic variation across genomic regions containing pathogenic copy number variationsPreprint

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Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative ModelingPreprint

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Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

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Role of Copy Number Variations in ADHD

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Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., Stefansson, H., Stefansson, K., Magnusson, P., Gudmundsson, O. O., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61109-9 · Cited by 572 · see citing works

Implications of DNA copy number variations in attention-deficit/hyperactivity disorder: An update review

Palmeira, M. E., & Gouveia, L. B. D. M. (2016) · European Psychiatry · doi:10.1016/j.eurpsy.2016.01.1700

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder

Williams, N. M., Franke, B., Mick, E. O., Anney, R., Freitag, C. M., Gill, M., Thapar, A., O’Donovan, M. C., Owen, M. J., Holmans, P., et al. (2012) · Cited by 1 · see citing works