Genetic overlap between autism, schizophrenia and bipolar disorder
Open accessAbstract
There is strong evidence that genetic factors make substantial contributions to the etiology of autism, schizophrenia and bipolar disorders, with heritability estimates being at least 80% for each. These illnesses have complex inheritance, with multiple genetic and environmental factors influencing disease risk; however, in psychiatry, complex genetics is further compounded by phenotypic complexity. Autism, schizophrenia and bipolar disorder are effectively syndromic constellations of symptoms that define groups of patients with broadly similar outcomes and responses to treatment. As such the diagnostic categories are likely to be heterogeneous and the boundaries between them somewhat arbitrary. Recent applications of whole-genome technologies have discovered rare copy number variants and common single-nucleotide polymorphisms that are associated with risk of developing these disorders. Furthermore, these studies have shown an overlap between the genetic loci and even alleles that predispose to the different phenotypes. The findings have several implications. First, they show that copy number variations are likely to be important risk factors for autism and schizophrenia, whereas common single-nucleotide polymorphism alleles have a role in all disorders. Second, they imply that there are specific genetic loci and alleles that increase an individual's risk of developing any of these disorders. Finally, the findings suggest that some of the specific genetic loci implicated so far encode proteins, such as neurexins and neuroligins, that function in synaptic development and plasticity, and therefore may represent a common biological pathway for these disorders.
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
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?
Because psychiatric conditions and ASD share substantial genetic overlap, inherited factors probably contribute to the maternal psychiatric condition-ASD link.
“Given the significant genetic overlap between various psychiatric conditions and ASD, heritability likely contributes to these relationships (53–55).”
From Maternal Psychiatric Conditions, Treatment With Selective Serotonin Reuptake Inhibitors, and Neurodevelopmental Disorders (2021) · cites this paper as [55]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
Self-citationCommon polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821 · see citing works
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works
Lichtenstein, P., Yip, B. H., Björk, C., Pawitan, Y., Cannon, T. D., Sullivan, P. F., & Hultman, C. M. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60072-6 · Cited by 2,125 · see citing works
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
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., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851 · see citing works
Neuroligins and neurexins link synaptic function to cognitive disease
Südhof, T. C. (2008) · Nature · doi:10.1038/nature07456 · Cited by 1,849 · see citing works
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800 · see citing works
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 · see citing works
Common variants conferring risk of schizophrenia
†Genetic Risk and Outcome in Psychosis (GROUP), Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S., Rujescu, D., Werge, T., Pietiläinen, O. P. H., Mors, O., et al. (2009) · Nature · doi:10.1038/nature08186 · Cited by 1,677 · see citing works
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602 · see citing works
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402 · see citing works
The Heritability of Bipolar Affective Disorder and the Genetic Relationship to Unipolar Depression
McGuffin, P., Rijsdijk, F., Andrew, M., Sham, P., Katz, R., & Cardno, A. (2003) · Archives of General Psychiatry · doi:10.1001/archpsyc.60.5.497 · Cited by 1,243 · see citing works
Wellcome Trust Case Control Consortium, Ferreira, M. A. R., O'Donovan, M. C., Meng, Y. A., Jones, I. R., Ruderfer, D. M., Jones, L., Fan, J., Kirov, G., Perlis, R. H., et al. (2008) · Nature Genetics · doi:10.1038/ng.209 · Cited by 1,237 · see citing works
Self-citationCommon variants on chromosome 6p22.1 are associated with schizophrenia
Shi, J., Levinson, D. F., Duan, J., Sanders, A. R., Zheng, Y., Pe’er, I., Dudbridge, F., Holmans, P., Whittemore, A. S., Mowry, B. J., et al. (2009) · Nature · doi:10.1038/nature08192 · Cited by 1,154 · see citing works
Identification of loci associated with schizophrenia by genome-wide association and follow-up
Molecular Genetics of Schizophrenia Collaboration, O'Donovan, M. C., Craddock, N., Norton, N., Williams, H., Peirce, T., Moskvina, V., Nikolov, I., Hamshere, M., Carroll, L., et al. (2008) · Nature Genetics · doi:10.1038/ng.201 · Cited by 1,070 · see citing works
Self-citationCommon genetic variants on 5p14.1 associate with autism spectrum disorders
Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature · doi:10.1038/nature07999 · Cited by 989 · see citing works
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.005 · Cited by 818 · see citing works
Strong association of de novo copy number mutations with sporadic schizophrenia
Xu, B., Roos, J. L., Levy, S., van Rensburg, E. J., Gogos, J. A., & Karayiorgou, M. (2008) · Nature Genetics · doi:10.1038/ng.162 · Cited by 813 · see citing works
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804 · see citing works
Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/382137 · Cited by 768 · see citing works
Whole-genome association study of bipolar disorder
Sklar, P. B., Smoller, J. W., Fan, J., Ferreira, M. A. R., Perlis, R. H., Chambert, K., Nimgaonkar, V. L., McQueen, M. B., Faraone, S. V., Kirby, A. W., et al. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002151 · Cited by 691 · see citing works
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, R., Marshall, C. R., Sutcliffe, J. S., Skaug, J., Pinto, D., Vincent, J., Zwaigenbaum, L., Fernandez, B., Roberts, W., Szatmari, P., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522590 · Cited by 681 · see citing works
Calcium Channel Regulation and Presynaptic Plasticity
Catterall, W. A., & Few, A. P. (2008) · Neuron · doi:10.1016/j.neuron.2008.09.005 · Cited by 647 · see citing works
(1997) · PubMed · Cited by 645 · see citing works
The genetics of autistic disorders and its clinical relevance: a review of the literature
Freitag, C. M. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001896 · Cited by 638 · see citing works
Arking, D. E., Cutler, D. J., Brune, C. W., Teslovich, T. M., West, K., Ikeda, M., Rea, A., Guy, M., Lin, S., Cook, E. H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.015 · Cited by 590 · see citing works
The Kraepelinian dichotomy – going, going … but still not gone
Craddock, N., & Owen, M. J. (2010) · British Journal of Psychiatry · doi:10.1192/bjp.bp.109.073429 · Cited by 587 · see citing works
Self-citationA recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.93 · Cited by 582 · see citing works
Disruption of neurexin 1 associated with autism spectrum disorder
Kim, H.-G., Kishikawa, S., Higgins, A. W., Seong, I.-S., Donovan, D. J., Shen, Y., Lally, E., Weiss, L. A., Najm, J., Kutsche, K., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.011 · Cited by 578 · see citing works
The genetics of schizophrenia and bipolar disorder: dissecting psychosis
Craddock, N., O’Donovan, M. C., & Owen, M. J. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.030718 · Cited by 574 · see citing works
Self-citation15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., et al. (2009) · Nature Genetics · doi:10.1038/ng.292 · Cited by 551 · see citing works
Bakkaloglu, B., O'Roak, B. J., Louvi, A., Gupta, A. R., Abelson, J. F., Morgan, T. M., Chawarska, K., Klin, A., Ercan-Sencicek, A. G., Stillman, A. A., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.017 · Cited by 537 · see citing works
Wellcome Trust Case Control Consortium, Green, E. K., Grozeva, D., Jones, I., Jones, L., Kirov, G., Caesar, S., Gordon-Smith, K., Fraser, C., Forty, L., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.49 · Cited by 526 · see citing works
Self-citationDisruption of the neurexin 1 gene is associated with schizophrenia
Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O. P. H., Barnes, M. R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn351 · Cited by 471 · see citing works
A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia
Need, A. C., Ge, D., Weale, M. E., Maia, J. M., Feng, S., Heinzen, E. L., Shianna, K. V., Yoon, W., Kasperavičiūtė, D., Gennarelli, M., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000373 · Cited by 443 · see citing works
Guilmatre, A., Dubourg, C., Mosca, A.-L., Legallic, S., Goldenberg, A., Drouin-Garraud, V., Layet, V., Rosier, A., Briault, S., Bonnet-Brilhault, F., et al. (2009) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2009.80 · Cited by 429 · see citing works
Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.059907 · Cited by 427 · see citing works
Genetic Liability of Type 1 Diabetes and the Onset Age Among 22,650 Young Finnish Twin Pairs
Harjutsalo, V., Kaprio, J. A., Kinnunen, L., Koskenvuo, M. J., & Tuomilehto, J. (2003) · Diabetes · doi:10.2337/diabetes.52.4.1052 · Cited by 392 · see citing works
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.
Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K. K., Holmans, P., International Schizophrenia Consortium, the Wellcome Trust Case Control Consortium, Craddock, N., Owen, M. J., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp043 · Cited by 390 · see citing works
Self-citationComparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M. C., Erdogan, F., Owen, M. J., Ropers, H.-H., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm323 · Cited by 377 · see citing works
Self-citationWilson, H. L., Wong, A. C. C., Shaw, S. R., Tse, W.-Y., Stapleton, G. A., Phelan, M. C., Hu, S., Marshall, J., & McDermid, H. E. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.8.575 · Cited by 377 · see citing works
Moskvina, V, Craddock, N., Holmans, P., Nikolov, I., Pahwa, J. S., Green, E., Wellcome Trust Case Control Consortium, Owen, M. J., & O'Donovan, M. C. (2009) · Molecular Psychiatry · doi:10.1038/mp.2008.133 · Cited by 363 · see citing works
Self-citationSmith, E. N., Bloss, C. S., Badner, J. A., Barrett, T., Belmonte, P. L., Berrettini, W., Byerley, W., Coryell, W., Craig, D., Edenberg, H. J., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.43 · Cited by 363 · see citing works
Neuroligins and neurexins: linking cell adhesion, synapse formation and cognitive function
Dean, C., & Dresbach, T. (2005) · Trends in Neurosciences · doi:10.1016/j.tins.2005.11.003 · Cited by 360 · see citing works
Genome-wide association studies: potential next steps on a genetic journey
McCarthy, M. I., & Hirschhorn, J. N. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn289 · Cited by 354 · see citing works
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients
Yan, J., Oliveira, G., Coutinho, A. P., Yang, C., Feng, J., Katz, C., Sram, J. P., Bockholt, A., Jones, I. R., Craddock, N. J., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001629 · Cited by 323 · see citing works
Probing genetic overlap among complex human phenotypes
Rzhetsky, A., Wajngurt, D., Park, N., & Zheng, T. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0704820104 · Cited by 298 · see citing works
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
Friedman, J. I., Vrijenhoek, T., Markx, S., Janssen, I. M., van der Vliet, W. A., Faas, B. H. W., Knoers, N. V. A. M., Cahn, W., Kahn, R. S., Edelmann, L. J., et al. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002049 · Cited by 297 · see citing works
AUTISM AS A PARADIGMATIC COMPLEX GENETIC DISORDER
Veenstra-VanderWeele, J. M., Christian, S. L., & Cook, E. H. (2004) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.5.061903.180050 · Cited by 271 · see citing works
High frequency of neurexin 1β signal peptide structural variants in patients with autism
Feng, J., Schroer, R. J., Jin, Y., Song, W., Yang, C., Bockholt, A., Cook, E. H., Skinner, C. D., Schwartz, C. E., & Sommer, S. S. (2006) · Neuroscience Letters · doi:10.1016/j.neulet.2006.08.017 · Cited by 271 · see citing works
Ben-Shachar, S., Lanpher, B., German, J. R., Qasaymeh, M., Potocki, L., Nagamani, S. C. S., Franco, L. M., Malphrus, A., Bottenfield, G. W., Spence, J. E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.064378 · Cited by 261 · see citing works
Bolton, P. F., Dennis, N. R., Browne, C. E., Thomas, N. S., Veltman, M. W. M., Thompson, R. J., & Jacobs, P. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1551 · Cited by 246 · see citing works
Neurexin 1 (NRXN1) Deletions in Schizophrenia
Kirov, G., Rujescu, D., Ingason, A., Collier, D. A., O'Donovan, M. C., & Owen, M. J. (2009) · Schizophrenia Bulletin · doi:10.1093/schbul/sbp079 · Cited by 235 · see citing works
Self-citationCraddock, N., O'Donovan, M. C., & Owen, M. J. (2009) · Schizophrenia Bulletin · doi:10.1093/schbul/sbp020 · Cited by 216 · cited 1× · see citing works
“Furthermore, there have been recent reports of association for common alleles at several GABA receptor genes in a subtype of bipolar disorder and schizophrenia [61,62], which implicate loci also reported as associated with ASDs [23,63-65].”
BackgroundSelf-citationGenetics of psychosis; insights from views across the genome
O’Donovan, M. C., Craddock, N. J., & Owen, M. J. (2009) · Human Genetics · doi:10.1007/s00439-009-0703-0 · Cited by 213 · see citing works
Self-citationThe neuroligin and neurexin families: from structure to function at the synapse
Lisé, M.-F., & El-Husseini, A. (2006) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-006-6061-3 · Cited by 204 · see citing works
Grozeva, D. (2010) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2010.25 · Cited by 192 · see citing works
A 15q13.3 microdeletion segregating with autism
Pagnamenta, A. T., Wing, K., Akha, E. S., Knight, S. J. L., Bölte, S., Schmötzer, G., Duketis, E., Poustka, F., Klauck, S. M., Poustka, A., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.228 · Cited by 174 · see citing works
Contact in the genetics of autism and schizophrenia
Burbach, J. P. H., & van der Zwaag, B. (2009) · Trends in Neurosciences · doi:10.1016/j.tins.2008.11.002 · Cited by 168 · see citing works
Singleton deletions throughout the genome increase risk of bipolar disorder
Zhang, D., Cheng, L., Qian, Y., Alliey-Rodriguez, N., Kelsoe, J. R., Greenwood, T., Nievergelt, C., Barrett, T. B., McKinney, R., Schork, N., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2008.144 · Cited by 148 · see citing works
Poot, M., Beyer, V., Schwaab, I., Damatova, N., van’t Slot, R., Prothero, J., Holder, S. E., & Haaf, T. (2010) · neurogenetics · doi:10.1007/s10048-009-0205-1 · Cited by 137 · see citing works
22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?
Okamoto, N., Kubota, T., Nakamura, Y., Murakami, R., Nishikubo, T., Tanaka, I., Takahashi, Y., Hayashi, S., Imoto, I., Inazawa, J., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31771 · Cited by 117 · see citing works
Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept
Hamshere, M. L., Green, E., Jones, I. R., Jones, L. A., Moskvina, V., Kirov, G., Grozeva, D., Nikolov, I., Vukcevic, D., Caesar, S., et al. (2009) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.108.061424 · Cited by 96 · see citing works
Self-citationStrom, S. P., Stone, J. L., ten Bosch, J. R., Merriman, B., Cantor, R. M., Geschwind, D. H., & Nelson, S. F. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.41 · Cited by 80 · see citing works
A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea
Rossi, E. G., Verri, A. P., Patricelli, M. G., Destefani, V., Ricca, I., Vetro, A., Ciccone, R., Giorda, R., Toniolo, D., Maraschio, P., et al. (2008) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2008.06.010 · Cited by 72 · see citing works
Sykes, N., Claudio Toma, A., Wilson, N., Volpi, E. V., Sousa, I., Pagnamenta, A. T., Tancredi, R., Battaglia, A., Maestrini, E., Bailey, A. J., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.47 · Cited by 69 · see citing works
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Sweeney, J. A., Klin, A., Chiavacci, R. M., et al. (2020) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/g04w-kk07 · Cited by 63 · see citing works
Important Contribution of α-Neurexins to Ca2+-Triggered Exocytosis of Secretory Granules
Dudanova, I., Sedej, S., Ahmad, M., Masius, H., Sargsyan, V., Zhang, W., Riedel, D., Angenstein, F., Schild, D., Rupnik, M. S., et al. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.1913-06.2006 · Cited by 53 · see citing works
Genetics of Parkinsonism: a review.
Vaughan, J. R., Davis, M. B., & Wood, N. W. (2001) · PubMed · doi:10.1017/s0003480001008557 · Cited by 49 · see citing works
Genetics of Parkinsonism: a review
VAUGHAN, J. R., Davis, M. B., & WOOD, N. W. (2001) · Annals of Human Genetics · doi:10.1046/j.1469-1809.2001.6520111.x · Cited by 44 · see citing works
The Heritability of Breast Cancer: A Bayesian Correlated Frailty Model Applied to Swedish Twins Data
Locatelli, I., Lichtenstein, P., & Yashin, A. I. (2004) · Twin Research · doi:10.1375/twin.7.2.182 · Cited by 40 · see citing works
The Heritability of Breast Cancer: A Bayesian Correlated Frailty Model Applied to Swedish Twins Data
Locatelli, I., Lichtenstein, P., & Yashin, A. I. (2004) · Twin Research · doi:10.1375/136905204323016168 · Cited by 35 · see citing works
Kakinuma, H., Ozaki, M., Sato, H., & Takahashi, H. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30663 · Cited by 33 · see citing works
Cardno, A. G., & Gottesman, I. I. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(200021)97:1
Flagged first, then by citations
Research works printed but not linked: 1
- McGuffin P Owen MJ Gottesman II Psychiatric Genetics & Genomics 2002 1 Oxford: Oxford University Press
Cited by
Sorted by citations
Precise minds in uncertain worlds: Predictive coding in autism.
Van de Cruys, S., Evers, K., Van der Hallen, R., Van Eylen, L., Boets, B., de-Wit, L., & Wagemans, J. (2014) · Psychological Review · doi:10.1037/a0037665 · Cited by 885 · see citing works
Response inhibition and psychopathology: A meta-analysis of go/no-go task performance
Wright, L., Lipszyc, J., Dupuis, A., Thayapararajah, S. W., & Schachar, R. (2014) · Journal of Abnormal Psychology · doi:10.1037/a0036295 · Cited by 360 · see citing works
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.004 · Cited by 324 · see citing works
Roman-Urrestarazu, A., van Kessel, R., Allison, C., Matthews, F. E., Brayne, C., & Baron-Cohen, S. (2021) · JAMA Pediatrics · doi:10.1001/jamapediatrics.2021.0054 · Cited by 242 · see citing works
Genetics of schizophrenia: new findings and challenges
Gejman, P. V., Sanders, A. R., & Kendler, K. S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082410-101459 · Cited by 183 · see citing works
Smigielski, L., Jagannath, V., Rössler, W., Walitza, S., & Grünblatt, E. (2020) · Molecular Psychiatry · doi:10.1038/s41380-019-0601-3 · Cited by 168 · see citing works
Autistic Symptoms in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis
De Crescenzo, F., Postorino, V., Siracusano, M., Riccioni, A., Armando, M., Curatolo, P., & Mazzone, L. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00078 · Cited by 143 · see citing works
Epigenetics of Autism Spectrum Disorder
Siu, M. T., & Weksberg, R. (2017) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-319-53889-1_4 · Cited by 121 · see citing works
Kulak, A., Steullet, P., Cabungcal, J.-H., Werge, T., Ingason, A., Cuenod, M., & Do, K. Q. (2013) · Antioxidants & Redox Signaling · doi:10.1089/ars.2012.4858 · Cited by 124 · see citing works
A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing
Myers, R. A., Casals, F., Gauthier, J., Hamdan, F. F., Keebler, J., Boyko, A. R., Bustamante, C. D., Piton, A. M., Spiegelman, D., Henrion, E., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001318 · Cited by 97 · see citing works
Mood symptoms and suicidality across the autism spectrum
Dell'Osso, L., Carpita, B., Muti, D., Morelli, V., Salarpi, G., Salerni, A., Scotto, J., Massimetti, G., Gesi, C., Ballerio, M., et al. (2019) · Comprehensive Psychiatry · doi:10.1016/j.comppsych.2019.03.004 · Cited by 93 · see citing works
McAuley, E. Z., Scimone, A., Tiwari, Y., Agahi, G., Mowry, B. J., Holliday, E. G., Donald, J. A., Weickert, C. S., Mitchell, P. B., Schofield, P. R., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0038172 · Cited by 82 · see citing works
Kogan, J. H., Gross, A. K., Featherstone, R. E., Shin, R., Chen, Q., Heusner, C. L., Adachi, M., Lin, A., Walton, N. M., Miyoshi, S., et al. (2015) · The Journal of Neuroscience · doi:10.1523/jneurosci.3967-14.2015 · Cited by 59 · see citing works
Autism and psychosis: Clinical implications for depression and suicide
Upthegrove, R., Abu-Akel, A., Chisholm, K., Lin, A., Zahid, S., Pelton, M., Apperly, I., Hansen, P. C., & Wood, S. J. (2018) · Schizophrenia Research · doi:10.1016/j.schres.2017.08.028 · Cited by 60 · see citing works
Converging Evidence for an Association of ATP2B2 Allelic Variants with Autism in Male Subjects
Carayol, J., Sacco, R., Tores, F., Rousseau, F., Lewin, P., Hager, J., & Persico, A. M. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.05.020 · Cited by 59 · see citing works
Kiser, D. P., Rivero, O., & Lesch, K. (2015) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12392 · Cited by 58 · see citing works
Lukoshe, A., White, T., Schmidt, M. N., van der Lugt, A., & Hokken-Koelega, A. C. (2013) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-5-31 · Cited by 49 · see citing works
Ellis, S. E., Panitch, R., West, A. B., & Arking, D. E. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.87 · Cited by 48 · see citing works
Ames, J. L., Ladd-Acosta, C., Fallin, M. D., Qian, Y., Schieve, L. A., DiGuiseppi, C., Lee, L.-C., Kasten, E. P., Zhou, G., Pinto-Martin, J., et al. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.04.002 · Cited by 36 · see citing works
A predictive coding account of psychotic symptoms in autism spectrum disorder
van Schalkwyk, G. I., Volkmar, F. R., & Corlett, P. R. (2017) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-017-3065-9 · Cited by 25 · see citing works
Jauhar, S., Krishnadas, R., Nour, M. M., Cunningham-Owens, D., Johnstone, E. C., & Lawrie, S. M. (2018) · Schizophrenia Research · doi:10.1016/j.schres.2018.06.070 · Cited by 23 · see citing works
Ocakoğlu, F. T., Köse, S., Özbaran, B., & Onay, H. (2018) · Asian Journal of Psychiatry · doi:10.1016/j.ajp.2018.01.002 · Cited by 23 · see citing works
Kim, N.-S., Ringeling, F. R., Zhou, Y., Nguyen, H. N., Temme, S. J., Lin, Y.-T., Eacker, S., Dawson, V. L., Dawson, T. M., Xiao, B., et al. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.04.023 · Cited by 15 · see citing works
- Authors
- Carroll, L. S., & Owen, M. J.
- Affiliations
- Cardiff University (GB)
- Corresponding author
- Owen, Michael J
- Venue
- Genome Medicine
- Published
- 2009
- Volume
- 1
- Issue
- 10
- Pages
- 102
- ISSN
- 1756-994X (ISSN-L)
- PMC
- PMC2784305
- OpenAlex
- W2141881817
- Cited by
- 326
- References
- 76
- Citations by year
- 2026: 14 · 2025: 14 · 2024: 25 · 2023: 20 · 2022: 19 · 2021: 22 · 2020: 19 · 2019: 18 · 2018: 19 · 2017: 15 · 2016: 18 · 2015: 23 · 2014: 19 · 2013: 17 · 2012: 23
- FWCI
- 10.20
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome Medicine (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, schizophrenia, bipolar disorder, genetic overlap, copy number variation, single nucleotide polymorphisms, genetic risk factors, heritability, diagnostic heterogeneity, neurexin, neuroligins, synaptic development, synaptic plasticity
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
