The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

Probable Inference, the Law of Succession, and Statistical Inference

Wilson, E. B. (1927) · Journal of the American Statistical Association · doi:10.1080/01621459.1927.10502953 · Cited by 4,476

Comprehensive Textbook of Psychiatry

Freedman, A. M., & Kaplan, H. I. (1967) · The American Journal of the Medical Sciences · doi:10.1097/00000441-196712000-00052 · Cited by 3,825

Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)

Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., & Charman, T. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69041-7 · Cited by 2,104

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

Burnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,964

Large recurrent microdeletions associated with schizophrenia.

GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745

Kaplan & Sadock's Comprehensive Textbook of Psychiatry

Sadock, B. J., & Sadock, V. A. (2000) · Cited by 1,523

Rare chromosomal deletions and duplications increase risk of schizophrenia

The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475

Kaplan and Sadock's Comprehensive Text Book of Psychiatry

Saldanha, D. (2005) · Medical Journal Armed Forces India · doi:10.1016/s0377-1237(05)80189-3 · Cited by 1,164

Prevalence of autism-spectrum conditions: UK school-based population study

Baron-Cohen, S., Scott, F. J., Allison, C., Williams, J., Bolton, P., Matthews, F. E., & Brayne, C. (2009) · British Journal of Psychiatry · doi:10.1192/bjp.bp.108.059345 · Cited by 918

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854

Copy number variants in people with autism spectrum disorders and co-morbid psychosis

Larson, F. V., Arrand, J. R., Tantam, D., Jones, P. B., & Holland, A. J. (2017) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.12.005 · Cited by 11

Genomic Variation, Evolvability, and the Paradox of Mental Illness

Gualtieri, C. T. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2020.593233 · Cited by 11

Paradoxical Improvement of Schizophrenic Symptoms by a Dopaminergic Agonist: An Example of Personalized Psychiatry in a Copy Number Variation–Carrying Patient

Danset-Alexandre, C., Chaumette, B., Martínez, G., Christa, L., Dupont, J., Kébir, O., Raphaël Gaillard, B., Amado, I., & Krebs, M. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.09.017 · Cited by 10

Familial inheritance of the 3q29 microdeletion syndrome: case report and review

Khan, W. A., Cohen, N., Scott, S. A., & Pereira, E. M. (2019) · BMC Medical Genomics · doi:10.1186/s12920-019-0497-4 · Cited by 10

Genetics and genetic counseling in psychiatry: Results from an opinion survey of professionals and users

Martorell, L., Delgado, A. S., Blázquez, A., Lojo, E., Cortés, M. J., de Pablo, J., & Vilella, E. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.830 · Cited by 12

Haplotype Phasing and Inheritance of Copy Number Variants in Nuclear Families

Palta, P., Kaplinski, L., Nagirnaja, L., Veidenberg, A., Möls, M., Nelis, M., Esko, T., Metspalu, A., Laan, M., & Remm, M. (2015) · PLoS ONE · doi:10.1371/journal.pone.0122713 · Cited by 12

Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples

Rodriguez‐Lopez, J. A., Sobrino, B., Amigo, J., Carrera, N., Brenlla, J., Agra, S., Paz, E., Carracedo, Á., Páramo, M., Arrojo, M., et al. (2017) · European Archives of Psychiatry and Clinical Neuroscience · doi:10.1007/s00406-017-0799-5 · Cited by 11

Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD

Osório, J. M. A., Rodríguez‐Herreros, B., Romascano, D., Junod, V., Habegger, A., Pain, A., Richetin, S., Yu, P., Isidor, B., Maldergem, L. V., et al. (2021) · Molecular Autism · doi:10.1186/s13229-020-00410-w · Cited by 10

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

Teles, N. O., de Stefano, M. C., Gallagher, L., Rakić, S., Jorge, P., Čuturilo, G., Markovska-Simoska, S., Borg, I., Wolstencroft, J., Tümer, Z., et al. (2020) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph17249253 · Cited by 11

Prenatal diagnosis of 15q11.2 microdeletion fetuses in Eastern China: 21 case series and literature review

Jiang, X.-L., Liang, B., Zhao, W., Lin, N., Huang, H., Cai, M., & Xu, L. (2023) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2023.2262700 · Cited by 9

Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population

Lo, T., Kushima, I., Aleksić, B., Kato, H., Nawa, Y., Hayashi, Y., Otgonbayar, G., Kimura, H., Arioka, Y., Mori, D., et al. (2022) · International Review of Psychiatry · doi:10.1080/09540261.2022.2072193 · Cited by 8

Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy

Libman, V., Friedlander, Y., Chalk, M., Hochner, H., & Shkedi‐Rafid, S. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6337 · Cited by 9

Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions

Furukawa, S., Kushima, I., Aleksić, B., & Ozaki, N. (2023) · Neuropsychopharmacology Reports · doi:10.1002/npr2.12340 · Cited by 9

Schizophrenia Genetics: Building the Foundations of the Future

Tansey, K. E., Owen, M. J., & O’Donovan, M. C. (2014) · Schizophrenia Bulletin · doi:10.1093/schbul/sbu162 · Cited by 10

Copy number variation and brain structure: lessons learned from chromosome 16p11.2

Stein, J. L. (2015) · Genome Medicine · doi:10.1186/s13073-015-0140-8 · Cited by 11

Genetic Mechanisms Emerging from Mouse Models of CNV-Associated Neuropsychiatric Disorders

Nishi, A., & Hiroi, N. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-801829-3.00030-6 · Cited by 9

Updated penetrance estimates for recurrent copy number variants – an improved definition and formula

Goh, S., Dudding‐Byth, T., Pinese, M., & Kirk, E. P. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01948-0 · Cited by 8

The schizophrenia risk gene Map2k7 regulates responding in a novel contingency-shifting rodent touchscreen gambling task

Openshaw, R. L., Pratt, J. A., & MORRIS, B. J. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049310 · Cited by 8

Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study

Workalemahu, T., Dalton, S., Son, S. L., Allshouse, A. A., Carey, A. Z., Pagé, J., Blue, N. R., Thorsten, V., Goldenberg, R. L., Pınar, H., et al. (2023) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.17561 · Cited by 8

Induced pluripotent stem cells for 2D and 3D modelling the biological basis of schizophrenia and screening possible therapeutics

Tomaskovic‐Crook, E., Guerrieri-Cortesi, K., & Crook, J. M. (2021) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2021.07.004 · Cited by 8

Copy number variant syndromes are frequent in schizophrenia: Progressing towards a CNV-schizophrenia model

Sriretnakumar, V., Zai, C. C. H., Wasim, S., Barsanti-Innes, B., Kennedy, J. L., & So, J. (2019) · Schizophrenia Research · doi:10.1016/j.schres.2019.04.026 · Cited by 8

CONY: A Bayesian procedure for detecting copy number variations from sequencing read depths

Wei, Y., & Huang, G.-H. (2020) · Scientific Reports · doi:10.1038/s41598-020-64353-1 · Cited by 8

Perspective: Revealing molecular secrets

Hyman, S. E. (2014) · Nature · doi:10.1038/508s20a · Cited by 7

Validation of a microRNA target site polymorphism in H3F3B that is potentially associated with a broad schizophrenia phenotype

Manley, W., Moreau, M., Azaro, M. A., Siecinski, S. K., Davis, G., Buyske, S. G., Vieland, V. J., Bassett, A. S., & Brzustowicz, L. M. (2018) · PLoS ONE · doi:10.1371/journal.pone.0194233 · Cited by 7

Attitudes toward offering genetic counseling for psychiatric conditions among genetics healthcare practitioners in the United Kingdom: A qualitative study

Rowlatt, A., McAllister, M., & Cuthbert, A. (2021) · Journal of Genetic Counseling · doi:10.1002/jgc4.1492 · Cited by 7

An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders

Rodriguez‐Lopez, J. A., Carrera, N., Arrojo, M., Amigo, J., Sobrino, B., Páramo, M., Paz, E., Agra, S., Ramos‐Ríos, R., Brenlla, J., et al. (2015) · Clinica Chimica Acta · doi:10.1016/j.cca.2015.03.013 · Cited by 8

Superheroes of disease resistance

MacArthur, D. G. (2016) · Nature Biotechnology · doi:10.1038/nbt.3555 · Cited by 7

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

Fraza, C., Sønderby, I. E., Bøen, R., Shi, Y., Beckmann, C. F., & Marquand, A. F. (2024) · Nature Mental Health · doi:10.1038/s44220-024-00322-1 · Cited by 10

Copy number variants and the tangential expansion of the cerebral cortex

Liao, Z., Kumar, K., Kopál, J., Huguet, G., Saci, Z., Jean‐Louis, M., Pausová, Z., Jurišica, I., Bearden, C. E., Jacquemont, S., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-56855-1 · Cited by 7

Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications

Li, H., Hu, J., Wu, Q., Qiu, J., Zhang, L., & Zhu, J. (2024) · Scientific Reports · doi:10.1038/s41598-024-67123-5 · Cited by 10

Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome

Zhao, Y., Song, L., Zhang, S., Hou, F., Shan, S., & Jin, H. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1486974 · Cited by 6

Copy number variants in siblings of Mexican origin concordant for schizophrenia or bipolar disorder

Vega-Sevey, J. G., Martínez‐Magaña, J. J., Mendoza, A. D. G., Escamilla, M., Lanzagorta, N., Tovilla‐Zárate, C. A., & Nicolini, H. (2020) · Psychiatry Research · doi:10.1016/j.psychres.2020.113018 · Cited by 6

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 8

Patient preferences for prenatal testing of microdeletion and microduplication syndromes

Calonico, E., Blumenfeld, Y. J., Hudgins, L., & Taylor, J. B. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4760 · Cited by 7

Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene

Nagy, O., Kárteszi, J., Elmont, B., & Újfalusi, A. (2021) · Frontiers in Pediatrics · doi:10.3389/fped.2021.664548 · Cited by 6

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

dbBIP: a comprehensive bipolar disorder database for genetic research

Li, X., Ma, S., Yan, W., Wu, Y. Q., Kong, H., Zhang, M., Luo, X., & Xia, J. (2022) · Database · doi:10.1093/database/baac049 · Cited by 7

Update on the genetic architecture of schizophrenia

Degenhardt, F. (2020) · Medizinische Genetik · doi:10.1515/medgen-2020-2009 · Cited by 7

Atlas of functional connectivity relationships across rare and common genetic variants, traits, and psychiatric conditionsPreprint

Moreau, C. A., Kumar, K., Harvey, A., Huguet, G., Urchs, S. G. W., Douard, E. A., Schultz, L. M., Sharmarke, H., Jizi, K., Martin, C.-O., et al. (2021) · medRxiv · doi:10.1101/2021.05.21.21257604 · Cited by 8

Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank

Dinneen, T. J., Ghrálaigh, F. N., Ormond, C., Heron, E. A., Kirov, G., Lopez, L. M., & Gallagher, L. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00426-8 · Cited by 5

Genome-wide study of copy number variation implicates multiple novel loci for schizophrenia risk in Han Chinese family trios

Wu, X., Huai, C., Shen, L., Li, M., Yang, C., Zhang, J., Chen, L., Zhu, W., Fan, L., Zhou, W., et al. (2021) · iScience · doi:10.1016/j.isci.2021.102894 · Cited by 6

Submicroscopic aberrations of chromosome 16 in prenatal diagnosis

Wu, X., Xu, L., Li, Y., Lin, N., Su, L., Cai, M., Xie, X., Zheng, L., Huang, H., & Lin, Y. (2019) · Molecular Cytogenetics · doi:10.1186/s13039-019-0448-y · Cited by 5

A cross-comparison of cognitive ability across 8 genomic disorders

Mortillo, M., & Mullé, J. G. (2021) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2021.04.001 · Cited by 7

The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions

Cooke, J., Molloy, C. J., Cáceres, A. S. J., Dinneen, T. J., Bourgeron, T., Murphy, D., Gallagher, L., & Loth, E. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.806990 · Cited by 5

Genetics of schizophrenia

Kendall, K. M., Walters, J. T., & O’Donovan, M. C. (2020) · doi:10.1093/med/9780198713005.003.0059 · Cited by 5

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

Rare schizophrenia risk variants are enriched in genes shared with neurodevelopmental disordersPreprint

Singh, T., Walters, J., Johnstone, M., Curtis, D., Suvisaari, J., Torniainen‐Holm, M., Rees, E., Iyegbe, C. O., Blackwood, D., McIntosh, A. M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/069344 · Cited by 5

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

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

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

Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain‐related functional pathways

Jagannath, V., Grünblatt, E., Theodoridou, A., Oneda, B., Roth, A. C., Gerstenberg, M., Franscini, M., Traber‐Walker, N., Correll, C. U., Heekeren, K., et al. (2019) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32770 · Cited by 4

Copy-Number Variants in The Contactin-5 Gene Are a Potential Risk Factor for Autism Spectrum Disorder

Schmilovich, Z., Huguet, G., He, Q., Johnson, A., Douard, E. A., Loum, M. A., Liao, C., Ross, J. P., Dionne‐Laporte, A., Spiegelman, D., et al. (2021) · Research in Autism · doi:10.1016/j.rasd.2022.102055 · Cited by 6

Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability—Data from a Romanian Cohort

Streață, I., Caramizaru, A., Riza, A., Sosoi, S. S., Pîrvu, A., Cara, M.-L., Cucu, M., Dobrescu, A., Ro-NMCA-ID Group, CExBR Pediatric Neurology Obregia Group, et al. (2022) · Diagnostics · doi:10.3390/diagnostics12123137 · Cited by 4

Rare Copy Number Variants Reveal Critical Cell Types and Periods of Brain Development in Neurodevelopmental Disorders

Malwade, S., Sellgren, C. M., Vasistha, N. A., & Khodosevich, K. (2025) · Biological Psychiatry Global Open Science · doi:10.1016/j.bpsgos.2025.100495 · Cited by 6

Epigenetic silencing of genomic structural variations

Skryabin, N. A., Vasilyev, S. А., & Лебедев, И. Н. (2017) · Russian Journal of Genetics · doi:10.1134/s1022795417100106 · Cited by 4

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

Chawner, S. J. R. A., Mihaljevic, M. M., Morrison, S., Eser, H. Y., Maillard, A. M., Nowakowska, B., van den Bree, M. B. M., & Swillen, A. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.104093 · Cited by 4

Statistical models for DNA copy number variation detection using read-depth data from next generation sequencing experiments

Ji, T., & Chen, J. (2016) · Australian & New Zealand Journal of Statistics · doi:10.1111/anzs.12175 · Cited by 4

ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data

Kong, J., Shin, J., Won, J.-I., Lee, K., Lee, U., & Yoon, J. (2017) · BioMed Research International · doi:10.1155/2017/9631282 · Cited by 5

Genetic mechanisms of neurodevelopmental disorders

Au, P. Y. B., Eaton, A. J., & Dyment, D. A. (2020) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64150-2.00024-1 · Cited by 5

Using Genetics to Increase Specificity of Outcome Prediction in Psychiatric Disorders: Prospects for Progression

Holmans, P. (2020) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2020.20081181 · Cited by 4

The role of rare copy number variants in depressionPreprint

Kendall, K. M., Rees, E., Bracher‐Smith, M., Riglin, L., Zammit, S., O’Donovan, M. C., Owen, M. J., Jones, I. R., Kirov, G., & Walters, J. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/378307 · Cited by 4

From the neo-Kraepelinian framework to the new mechanical philosophy of psychiatry: regaining common sense

Joober, R., & Tabbane, K. (2019) · Journal of Psychiatry & Neuroscience · doi:10.1503/jpn.180240 · Cited by 3

Information and genetic counselling for psychiatric risks in children with rare genomic disordersPreprint

Cuthbert, A., Challenger, A., Hall, J., & van den Bree, M. B. M. (2019) · medRxiv · doi:10.1101/19007294 · Cited by 4

Substantial role of rare inherited variation in individuals with developmental disordersPreprint

Samocha, K. E., Chundru, V. K., Fu, J. M., Gardner, E. J., Danecek, P., Wigdor, E. M., Malawsky, D. S., Lindsay, S., Campbell, P. H., Singh, T., et al. (2024) · medRxiv · doi:10.1101/2024.08.28.24312746 · Cited by 4

Neurobiomarkers of psychiatric disorders in children and adolescents and their significance for diagnosis and precision medicine: A narrative review

Ayano, G., Zena, D., Gizachew, Y., & Tsegay, L. (2025) · NeuroMarkers. · doi:10.1016/j.neumar.2025.100040 · Cited by 4

Decoding the genomic symphony: unravelling brain disorders through data integration and machine learning

Bracher‐Smith, M., & Escott‐Price, V. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03330-4 · Cited by 5

Copy number variant risk loci for schizophrenia converge on the BDNF pathway

Ehrhart, F., Silva, A. I., van Amelsvoort, T., von Scheibler, E. N. M. M., Evelo, C. T., & Linden, D. E. J. (2024) · The World Journal of Biological Psychiatry · doi:10.1080/15622975.2024.2327027 · Cited by 6

Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes

Kikuchi, Y., Uddin, M. J., Veltman, J. A., Wells, S. E., Morris, C., & Woodbury‐Smith, M. (2025) · Molecular Autism · doi:10.1186/s13229-024-00633-1 · Cited by 4

Integrated analysis of gene expression and copy number variations in MET proto‑oncogene‑transformed human primary osteoblasts

Jia, R., Lan, C., Wang, X., & Gao, C. (2017) · Molecular Medicine Reports · doi:10.3892/mmr.2017.8135 · Cited by 3

16p12.2 Recurrent Deletion

Girirajan, S., Pizzo, L., Moeschler, J. B., & Rosenfeld, J. A. (2018) · Europe PMC (PubMed Central) · Cited by 3

The Role of Genetic Interactions in Neurodevelopmental Disorders

Moore, J. H., & Mitchell, K. J. (2015) · Wiley eBooks · doi:10.1002/9781118524947.ch4 · Cited by 3

Getting real about risk

Large, M. M. B., & Singh, S. P. (2014) · The British Journal of Psychiatry · doi:10.1192/bjp.205.1.78a · Cited by 3

Animal Models for Neurodevelopmental Disorders

Harony‐Nicolas, H., & Buxbaum, J. D. (2015) · Wiley eBooks · doi:10.1002/9781118524947.ch11 · Cited by 3

Converging pathways found in copy number variation syndromes with high schizophrenia riskPreprint

Ehrhart, F., Silva, A. I., van Amelsvoort, T., von Scheibler, E. N. M. M., Evelo, C. T., & Linden, D. E. J. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.02.07.479370 · Cited by 3

The genetic architecture of neurodevelopmental disordersPreprint

Mitchell, K. J. (2014) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/009449 · Cited by 3

Rare CNVs and phenome-wide profiling: a tale of brain-structural divergence and phenotypical convergencePreprint

Kopál, J., Kumar, K., Saltoun, K., Modenato, C., Moreau, C. A., Martin‐Brevet, S., Huguet, G., Jean‐Louis, M., Martin, C.-O., Saci, Z., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.04.23.489093 · Cited by 3

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

Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss

Joo, S. Y., Jang, S. H., Kim, J. A., Kim, S. J., Choi, J. Y., Jung, J., & Gee, H. Y. (2025) · Scientific Reports · doi:10.1038/s41598-025-18852-8 · Cited by 2

Multi-Omics and Functional Analysis of BFSP1 as a Prognostic and Therapeutic Target in Liver Hepatocellular Carcinoma

Lee, K.-S., & Kim, J. (2025) · Medicina · doi:10.3390/medicina61122196 · Cited by 2

Parsing the neuroanatomy of schizophrenia to enhance the translational validity of preclinical models - a multidisciplinary perspective

MORRIS, B. J. (2026) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2026.111628 · Cited by 2

SCHIZOPHRENIA: THE SEARCH FOR GENETIC RISK FACTORS

Pomohaibo, V., Berezan, O. I., & Petrushov, A. (2019) · Psychology and Personality · doi:10.33989/2226-4078.2019.1.164024 · Cited by 10

A comprehensive update on genetic inheritance, epigenetic factors, associated pathology, and recent therapeutic intervention by gene therapy in schizophrenia

Rachana, R., Devtalla, H., Rana, K., Panda, S. P., Agrawal, A., Kadyan, S., Jindal, D., Pancham, P., Yadav, D., Jha, N. K., et al. (2023) · Chemical Biology & Drug Design · doi:10.1111/cbdd.14374 · Cited by 4

Disease Course and Response to Immunotherapy in Children With Childhood Disintegrative Disorder: A Retrospective Case Series

Sullivan, M., Gupta, M. J., Taylor, K. A., Mater, H. A. V., & Pizoli, C. E. (2023) · Journal of Child Neurology · doi:10.1177/08830738231220278 · Cited by 2

Independent inheritance of cognition and bipolar disorder in a family sample

D'Amico, A., Sung, H., Arbona‐Lampaya, A., Freifeld, A., Hosey, K., Garcia, J., Lacbawan, L. N., Besancon, E., Kassem, L., Akula, N., et al. (2024) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.33001 · Cited by 2

PenCards: a global and community-contributed public archive of variant penetrance

Zhu, Z., Shang, L., Shao, C., Wang, Z., Mao, X., Huang, Y., Yu, P., Li, B., Li, J., & Zhao, G. (2025) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2025.07.001 · Cited by 2

Single nucleotide polymorphism array analysis of 102 patients with developmental delay and/or intellectual disability from Fujian, China

Liang, B., Wang, Y., Lin, N., Huang, H., Chen, L., Chen, M., Yu, D., Chen, X., He, D., & Xu, L. (2020) · Clinica Chimica Acta · doi:10.1016/j.cca.2020.08.032 · Cited by 2

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

Neurology in the Light of Genomics: Application of NGS and GWAS in Understanding Complex Neurological Disorders

Banerjee, A. K., & Arora, N. (2018) · Neuropsychiatry · doi:10.4172/neuropsychiatry.1000439 · Cited by 2

Genetics of Intellectual Disability

Wolfe, K., Strydom, A., & Bass, N. J. (2019) · Cambridge University Press eBooks · doi:10.1017/9781108617444.002 · Cited by 2

A core collection of pan-schizophrenia genes allows building cohort-specific signatures of affected brain

Xie, Q., Shen, W., Li, Z., Baranova, A. V., Cao, H., & Li, Z. (2019) · Scientific Reports · doi:10.1038/s41598-019-48605-3 · Cited by 2

Genomic treatment response prediction in schizophrenia

Legge, S. E., Pardiñas, A. F., & Walters, J. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813176-3.00034-1 · Cited by 2

Bipolar Disorder from a Developmental Psychopathology Perspective: Focusing on Phenomenology, Etiology, and Neurobiology

Klimes‐Dougan, B., Kennedy, K. P., & Cullen, K. R. (2016) · Wiley eBooks · doi:10.1002/9781119125556.devpsy320 · Cited by 2

Information and genetic counselling for psychiatric risks in children with rare disordersPreprint

Cuthbert, A., Challenger, A., Hall, J., & van den Bree, M. B. M. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/542423 · Cited by 2

The rate of de novo CNVs in healthy controlsPreprint

Barone, J., Smith, M. W., Kendall, K. M., Owen, M. J., O’Donovan, M. C., & Kirov, G. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/857797 · Cited by 2

Patient iPSC-derived astrocytes with high polygenic risk for schizophrenia reveals a role for mitochondrial glutamate carrier SLC25A18Preprint

Beekhuis-Hoekstra, S. D., Laupman, K. E., Wei, Y., Watanabe, K., Cornelissen‐Steijger, P., Sullivan, P. F., Posthuma, D., & Heine, V. M. (2022) · Research Square · doi:10.21203/rs.3.rs-1811182/v1 · Cited by 2

Interloci CNV Interactions in Variability of the Phenotypes of Neurodevelopmental Disorders

Belyaeva, E. O., & Лебедев, И. Н. (2022) · Russian Journal of Genetics · doi:10.1134/s1022795422100027 · Cited by 1

Investigating psychiatric morbidity, hopelessness and suicide risk in patients with 22q11.2 deletion syndrome: a case-control study

Berardelli, I., Cifrodelli, M., Sarubbi, S., Giuliani, C., Antonelli, G., Schirripa, F., Putotto, C., Pulvirenti, F., Innamorati, M., & Pompili, M. (2024) · International Journal of Psychiatry in Clinical Practice · doi:10.1080/13651501.2024.2427624 · Cited by 1

Evidence of neurocognitive and resting state functional connectivity differences in carriers of NRXN1 deletions

Fitzgerald, J., Molloy, C. J., Dinneen, T. J., Feerick, N., O’Sullivan, M., O’Conaill, R., Al-Shehhi, M., Reilly, R. B., Lynch, S. A., Heron, E. A., et al. (2025) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-025-09625-5 · Cited by 1

Childhood-Onset Psychosis: A large UK case series

Sato, M. S., James, A. C., Kyriakopoulos, M., & Need, A. C. (2025) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-025-02895-3 · Cited by 1

Perspectivas actuales sobre el diagnóstico genómico en pediatría

Guillermo Lay-Son, R., & León, L. E. (2015) · Revista chilena de pediatría · doi:10.1016/j.rchipe.2015.04.002 · Cited by 1

Penetrance for copy number variants associated with schizophrenia

Vassos, E., Collier, D. A., Holden, S., Patch, C., Rujescu, D., St Clair, D., & Lewis, C. M. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq259 · Cited by 182

The Complexity of Genomic Structural Variation in Neurodevelopmental Disorders

Daley, M. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.12.004

What a psychiatrist needs to know about copy number variants

Kirov, G., Rees, E., & Walters, J. (2015) · BJPsych Advances · doi:10.1192/apt.bp.113.012039 · Cited by 23

The Role of Copy Number Variation in Psychiatric Disorders

Rees, E., & Kirov, G. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780190221973.003.0006

189. The Effect of Penetrance of CNVs for Intellectual Disability and Schizophrenia on Brain Structural Phenotypes

Drakesmith, M., Parker, G. D., Linden, S. C., Rees, E., Williams, N. M., Owen, M. J., Hall, J., van den Bree, M. B. M., & Linden, D. E. J. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.03.203