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Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
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“Similarly, cytogenetic abnormalities have been reported for almost every chromosome [for a review, see Ref. (3–7) and http://projects.tcag.ca/autism/].”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [4]
In the citing paper
“A subset of the genetic region associated with PWS is also associated with an increased risk for ASD, as maternally inherited duplications of the 15q11–13 region are associated with 1–3% of ASD cases (Bolton et al., 2001; Cook et al., 1997; Vorstman et al., 2006).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Vorstman et al., 2006
In the citing paper
“Karyotyping studies suggested that on the order of 5% of ASD cases have one of a large number of rare but relatively gross chromosomal abnormalities. 14,78”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [14]
In the citing paper
“microduplications or microdeletions of the region 15qllql3, which is subject to parental imprinting, have been repeatedly reported in subjects with autism”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [71]
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1 retracted
Wakefield, A., Murch, S., Anthony, A., Linnell, J., Casson, D., Malik, M., Berelowitz, M., Dhillon, A., Thomson, M., Harvey, P., et al. (1998) · The Lancet · doi:10.1016/s0140-6736(97)11096-0 · Cited by 3,006
RetractedDiagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,845
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., Pickles, A., & Rutter, M. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005592401947 · Cited by 7,520
The Future of Genetic Studies of Complex Human Diseases
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
Lander, E. S., & Kruglyak, L. (1995) · Nature Genetics · doi:10.1038/ng1195-241 · Cited by 5,236
Finishing the euchromatic sequence of the human genome
International Human Genome Sequencing Consortium (2004) · Nature · doi:10.1038/nature03001 · Cited by 4,971
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Large-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557
Autism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461
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- Persico AM, Militerni R, Bravaccio C, Schneider C, Melmed R, Conciatori M et al. Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples. Am J Med Genet 2000; 96: 123–127. · DOI
- Salmon B, Hallmayer J, Rogers T, Kalaydjieva L, Petersen PB, Nicholas P et al. Absence of linkage and linkage disequilibrium to chromosome 15q11–q13 markers in 139 multiplex families with autism. Am J Med Genet 1999; 88: 551–556. · DOI
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Items 101–200 of 352
Autism, language delay and mental retardation in a patient with 7q11 duplication
Depienne, C., Héron, D., Betancur, C., Benyahia, B., Trouillard, O., Bouteiller, D., Verloès, A., Leguern, É., Leboyer, M., & Brice, A. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2006.047092 · Cited by 94
Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders
Schaefer, G. B., & Lutz, R. E. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000237789.98842.f1 · Cited by 94
The genomically mosaic brain: Aneuploidy and more in neural diversity and disease
Bushman, D. M., & Chun, J. J. M. (2013) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2013.02.003 · Cited by 93
“4% of ASD cases [206]), helping to account for the heterogeneous phenotypes of autism and ASD [208].”
BackgroundThe Genetics of Autism Spectrum Disorders
Huguet, G., Benabou, M., & Bourgeron, T. (2016) · Research and perspectives in endocrine interactions · doi:10.1007/978-3-319-27069-2_11 · Cited by 105
Serotonin rebalances cortical tuning and behavior linked to autism symptoms in 15q11-13 CNV mice
Nakai, N., Nagano, M., Saitow, F., Watanabe, Y., Kawamura, Y., Kawamoto, A., Tamada, K., Mizuma, H., Onoe, H., Watanabe, Y., et al. (2017) · Science Advances · doi:10.1126/sciadv.1603001 · Cited by 89
“We recorded from the somatosensory cortex where the circuit organization is well known to be affected by 5-HT level (18), and patients with ASD show poor response reliability in sensory cortical areas (19, 20).”
MethodInfluentialSyndromic autism: causes and pathogenetic pathways
Benvenuto, A., Moavero, R., Alessandrelli, R., Manzi, B., & Curatolo, P. (2009) · World Journal of Pediatrics · doi:10.1007/s12519-009-0033-2 · Cited by 93
UBE3A and Its Link With Autism
Vatsa, N., & Jana, N. R. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00448 · Cited by 90
“, 2016) and GABA receptor genes (GABRB3, GABRA5, GABRG3) (Kim et al., 2006; Klauck, 2006; Vorstman et al., 2006), genes encoding neuronal surface proteins (NLGN4X), intracellular trans-membrane proteins of the Golgi complex (POMGNT1), and genes responsible for proper cerebellar function (SYNE1) are important few names…”
Backgroundvan Daalen, E., Kemner, C., Verbeek, N. E., van der Zwaag, B., Dijkhuizen, T., Rump, P., Houben, R. H., Slot, R. V. ‘., de Jonge, M. V., Staal, W., et al. (2011) · Neurogenetics · doi:10.1007/s10048-011-0297-2 · Cited by 92
Self-citationDiagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome
Dykens, E. M., Roof, E., Hunt‐Hawkins, H., Dankner, N., Lee, E. B., Shivers, C. M., Daniell, C., & Kim, S. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9200-2 · Cited by 88
“As well, persons with isodicentric 15 syndrome often show ASD or autism symptoms, and maternally inherited duplications of the 15q11-q13 region are relatively common findings in genetic studies of idiopathic autism, seen in 1–3% of these cases [7, 8].”
BackgroundDNA Damage and Repair in Schizophrenia and Autism: Implications for Cancer Comorbidity and Beyond
Markkanen, E., Meyer, U., & Dianov, G. L. (2016) · International Journal of Molecular Sciences · doi:10.3390/ijms17060856 · Cited by 84
“found that schizophrenia is associated with a modest but significant increase in lung cancer risk in unadjusted analyses [52,59–62].”
BackgroundCastermans, D., Vermeesch, J. R., Fryns, J., Steyaert, J. G., de Ven, W. J. M. V., Creemers, J. W. M., & Devriendt, K. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201785 · Cited by 84
Genetic causes of developmental disorders
Vorstman, J. A. S., & Ophoff, R. A. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32835f1a30 · Cited by 83
Self-citationInsights on the Functional Impact of MicroRNAs Present in Autism-Associated Copy Number Variants
Vaishnavi, V., Manikandan, M., Tiwary, B. K., & Munirajan, A. K. (2013) · PLoS ONE · doi:10.1371/journal.pone.0056781 · Cited by 83
“Among these CNVs several were recurrent as previously observed in autistic cases and a few were identified at new genomic locations including 2p16, 1q21 and 17p12 [6,7,8,9].”
BackgroundDimitropoulos, A., Ho, A., & Feldman, B. (2013) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1547-3 · Cited by 77
Looping Genomes: Diagnostic Change and the Genetic Makeup of the Autism Population
Navon, D., & Eyal, G. (2016) · American Journal of Sociology · doi:10.1086/684201 · Cited by 80
A double hit implicates DIAPH3 as an autism risk gene
Vorstman, J. A. S., van Daalen, E., Jalali, G. R., Schmidt, E. R. E., Pasterkamp, R. J., de Jonge, M., Hennekam, E. A. M., Janson, E., Staal, W. G., van der Zwaag, B., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.26 · Cited by 74
Self-citationKitsiou‐Tzeli, S., Tzetis, M., Sofocleous, C., Vrettou, C., Xaidara, A., Γιαννίκου, Κ., Παμπάνος, Α., Mavrou, A., & Kanavakis, E. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33447 · Cited by 75
“…15q11-q14 also display parent-oforigin effects, with maternal duplications being associated with a complex neurobehavioral phenotype that often includes autism, cognitive deficits, and seizures [Cook et al., 1997; Dawson et al., 2002; Wang et al., 2004; Vorstman et al., 2006; Hogart et al., 2009].”
BackgroundMinor physical anomalies in autism: a meta-analysis
Özgen, M. H., Hop, J., Hox, J. J., Beemer, F. A., & van Engeland, H. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.75 · Cited by 76
Adams, M. C., Lucock, M. D., STUART, J. E., Fardell, S., Baker, K., & Ng, X. (2007) · Neuroscience Letters · doi:10.1016/j.neulet.2007.05.025 · Cited by 74
Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome
DiStefano, C., Gulsrud, A. C., Huberty, S., Kasari, C. L., Cook, E. H., Reiter, L. T., Thibert, R. L., & Jeste, S. (2016) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9152-y · Cited by 73
“25–3 % depending on sample ascertainment [10–14].”
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
Earl, R. K., Turner, T. N., Mefford, H. C., Hudac, C. M., Gerdts, J. A., Eichler, E. E., & Bernier, R. (2017) · Molecular Autism · doi:10.1186/s13229-017-0173-5 · Cited by 75
Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders
Malenfant, P., Liu, X., Hudson, M. L., Qiao, Y., Hrynchak, M. A., Riendeau, N., Hildebrand, M. J., Cohen, I. L., Chudley, A. E., Forster‐Gibson, C., et al. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1389-4 · Cited by 71
“Recent studies have reported different microdeletions (dels) and microduplications (dups) in 5–28% of individuals with ASDs, suggesting that such abnormalities might be a common etiological mechanism for this group of disorders (Jacquemont et al. 2006; Sebat et al. 2007; Vorstman et al. 2006).”
BackgroundBuizer-Voskamp, J. E., Muntjewerff, J.-W., Strengman, E., Sabatti, C., Stefansson, H., Vorstman, J. A. S., & Ophoff, R. A. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.02.015 · Cited by 68
Self-citationNuclear and Mitochondrial Genome Defects in Autisms
Smith, M., Spence, M. A., & Flodman, P. L. (2008) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2008.03571.x · Cited by 67
Autism spectrum disorders: Molecular genetic advances
Bacchelli, E., & Maestrini, E. (2006) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30078 · Cited by 69
Autistic disorder and 22q11.2 duplication
Mukaddes, N. M., & Hergüner, S. (2006) · The World Journal of Biological Psychiatry · doi:10.1080/15622970601026701 · Cited by 66
“Genetic factors have been shown to play an important role in the aetiology of autism spectrum disorder, but to date no clear mode of inheritance has been identified (Vorstman et al. 2006).”
BackgroundROSS, J. L., Tartaglia, N. R., Merry, D. E., Dalva, M. B., & Zinn, A. R. (2015) · Genes Brain & Behavior · doi:10.1111/gbb.12200 · Cited by 67
“5–12% of cytogenetically screened autism populations (Li et al. 1993; Vorstman et al. 2006; Wassink et al. 2001).”
InfluentialGhani, M., Pinto, D., Lee, J. H., Grinberg, Y., Sato, C., Moreno, D., Scherer, S. W., Mayeux, R. P., George‐Hyslop, P. S., & Rogaeva, E. A. (2012) · G3 Genes Genomes Genetics · doi:10.1534/g3.111.000869 · Cited by 63
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
Tokita, M., Chow, P. M., Mirzaa, G., Dikow, N., Maas, B., Isidor, B., Caignec, C. L., Penney, L. S., Mazzotta, G., Bernardini, L., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.202 · Cited by 61
Autism as early neurodevelopmental disorder: evidence for an sAPPα-mediated anabolic pathway
Lahiri, D. K., Sokol, D. K., Erickson, C. A., Ray, B., Ho, C. Y., & Maloney, B. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00094 · Cited by 63
Kumar, R. A., Sudi, J., Babatz, T. D., Brune, C. W., Oswald, D. P., Yen, M., Nowak, N. J., Cook, E. H., Christian, S. L., & Dobyns, W. B. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.065821 · Cited by 63
“3.(4) 6 Higher resolution approaches using array comparative genomic hybridisation (aCGH) and single nucleotide polymorphism microarrays have recently identified submicroscopic copy number variants (CNVs), including recurrent microdeletions and duplications of 16p11.”
BackgroundYufune, S., Satoh, Y., Takamatsu, I., Ohta, H., Kobayashi, Y., Takaenoki, Y., Pagès, G., Pouysségur, J., Endo, S., & Kazama, T. (2015) · Scientific Reports · doi:10.1038/srep10252 · Cited by 57
NTM and NR3C2 polymorphisms influencing intelligence: Family-based association studies
Pan, Y., Wang, K., & Aragam, N. (2010) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2010.10.016 · Cited by 57
Chien, W., Gau, S. S., Wu, Y., Huang, Y., Fang, J., Chen, Y., Soong, W., Chiu, Y., & Chen, C. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01395.x · Cited by 58
Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders
Chien, W., Gau, S. S., Liao, H., Chiu, Y., Wu, Y., Huang, Y., Tsai, W., Tsai, H.-M., & Chen, C. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-26 · Cited by 57
“Traditional cytogenetic studies [6-9] and the recent array-based comparative genomic hybridization (array CGH) analysis have shown that chromosome abnormalities and rare copy number variants [10,11] are”
BackgroundMicroarray-Based Genomic DNA Profiling Technologies in Clinical Molecular Diagnostics
Shen, Y., & Wu, B.-L. (2009) · Clinical Chemistry · doi:10.1373/clinchem.2008.112821 · Cited by 55
Volders, K., Nuytens, K., & Creemers, J. W. M. (2011) · Current Molecular Medicine · doi:10.2174/156652411795243432 · Cited by 54
Moeschler, J. B. (2008) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3282f82c2d · Cited by 55
The Genetics of Autism Spectrum Disorders
Grice, D. E., & Buxbaum, J. D. (2006) · NeuroMolecular Medicine · doi:10.1385/nmm:8:4:451 · Cited by 54
“Of these, only a small number have shown nominally significant associations (see Vorstman et al., 2006).”
BackgroundWermter, A., Kamp‐Becker, I., Strauch, K., Schulte‐Körne, G., & Remschmidt, H. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30618 · Cited by 53
“Linkage results in genomewide scans as well as cytogenetic abnormalities in individuals with ASD provide further evidence for an involvement of the X-chromosomal loci Xq12-q21 and Xp22 in the etiology of ASD [Vorstman et al., 2006].”
BackgroundSteroid sulfatase is a potential modifier of cognition in Attention Deficit Hyperactivity Disorder
Stergiakouli, E., Langley, K., Williams, H. J., Walters, J., Williams, N. M., Süren, S., Giegling, I., Wilkinson, L. S., Owen, M. J., O’Donovan, M. C., et al. (2011) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2010.00672.x · Cited by 48
“…Disorders, Version IV (DSM-IV) ADHD and comorbid conditions were obtained from parent reports using the Child and Adolescent Psychiatric Assessment (CAPA) (Angold & Costello 2000), with pervasiveness of ADHD assessed using the Child ADHD Teacher Telephone Interview (ChATTI) (Holmes et al. 2004).”
BackgroundMethodDivergent Patterns of Social Cognition Performance in Autism and 22q11.2 Deletion Syndrome (22q11DS)
McCabe, K., Melville, J., Rich, D., Strutt, P. A., Cooper, G. J., Loughland, C. M., Schall, U., & Campbell, L. (2013) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1742-2 · Cited by 45
“2012) and is associated with an increased incidence of other neurodevelopmental and psychiatric disorders including ASD (Fine et al. 2005; Vorstman et al. 2006).”
BackgroundCopy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders
Özgen, M. H., van Daalen, E., Bolton, P., Maloney, V. K., Huang, S., Cresswell, L., van den Boogaard, M. H., Eleveld, M. J., Slot, R. V. ‘., Hochstenbach, R., et al. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01254.x · Cited by 46
“Cytogenetic abnormalities have been detected in 5–10% of the patients with autistic disorder (10) and, recently, copy number changes ranging from a few kilobases to several megabases in size have been reported (11–14).”
BackgroundWang, J., Tao, Y., Song, F., Sun, Y., Ott, J., & Saffen, D. (2015) · Annals of Human Genetics · doi:10.1111/ahg.12121 · Cited by 45
“Rearrangements of 15q11-q13, which include CYFIP1 and many additional genes, are frequently detected in autistic patients (Vorstman et al., 2005; Depienne et al., 2009).”
BackgroundThree decades of ASD genetics: building a foundation for neurobiological understanding and treatment
Eyring, K. W., & Geschwind, D. H. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab176 · Cited by 46
The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder
Ziats, M. N., & Rennert, O. M. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00065 · Cited by 48
FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome
Felder, B., Radlwimmer, B., Benner, A., Mincheva, A., Toedt, G., Beyer, K. S., Schuster, C., Bölte, S., Schmötzer, G., Klauck, S. M., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32779 · Cited by 43
Lukose, R., Beebe, K., & Kulesza, R. J. (2014) · Neuroscience · doi:10.1016/j.neuroscience.2014.11.033 · Cited by 42
Floris, C., Rassu, S., Boccone, L., Gasperini, D., Cao, A., & Crisponi, L. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.7 · Cited by 45
The role of GABAergic system in neurodevelopmental disorders: a focus on autism and epilepsy.
Sgadó, P., Dunleavy, M., Genovesi, S., Provenzano, G., & Bozzi, Y. (2011) · PubMed Central · Cited by 40
Cho, S. C., Yim, S., Yoo, H. K., Kim, M., Jung, G. Y., Shin, G. W., Kim, B., Hwang, J. W., Kang, J., Kim, T., et al. (2009) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32832bdafa · Cited by 40
“2 has been suggested as autism-related region (Lauritsen et al., 1999; Vorstman et al., 2006).”
BackgroundTrent, S., Dean, R., Veit, B., Cassano, T., Bedse, G., Ojarikre, O. A., Humby, T., & Davies, W. (2012) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2012.12.002 · Cited by 40
Using genetic findings in autism for the development of new pharmaceutical compounds
Vorstman, J. A. S., Spooren, W. P. J. M., Persico, A. M., Collier, D. A., Aigner, S., Jagasia, R., Glennon, J. C., & Buitelaar, J. K. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3334-z · Cited by 43
Self-citationSchwartzer, J. J., Koenig, C. M., & Berman, R. F. (2012) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2012.08.007 · Cited by 41
Critical aspects of neurodevelopment
Chakraborty, R., Kumar, M., & Clement, J. P. (2021) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2021.107415 · Cited by 41
Mendelsohn, N. J., & Schaefer, G. B. (2008) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2008.01.005 · Cited by 38
Abu‐Amero, K. K., Hellani, A. M., Salih, M. A. M., Seidahmed, M. Z., Elmalik, T. S., Zidan, G., & Bosley, T. M. (2010) · BMC Medical Genetics · doi:10.1186/1471-2350-11-135 · Cited by 36
“Previous studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of ASD [3-9].”
BackgroundAutism - A Neurodevelopmental Journey from Genes to Behaviour
Eapen, V. (2011) · InTech eBooks · doi:10.5772/974 · Cited by 36
ORIGINAL ARTICLE: Genomic sister‐disorders of neurodevelopment: an evolutionary approach
Crespi, B. J., Summers, K., & Dorus, S. (2009) · Evolutionary Applications · doi:10.1111/j.1752-4571.2008.00056.x · Cited by 36
“…compilation ª 2009 Blackwell Publishing Ltd 2 (2009) 81–100 81 same genomic region, generating individuals with one copy or three copies of the genes involved, in addition to the usual complement of two (Stankiewicz and Lupski 2002; Redon et al. 2006; Sharp et al. 2006; Beckmann et al. 2007).”
BackgroundInvestigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study
Bennett, J., Thompson‐Hodgetts, S., Mackenzie, M. L., Haqq, A. M., & Zwaigenbaum, L. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18030517 · Cited by 36
“This may be partially due to a genetic finding that overexpression of chromosome 15 is associated with higher rates of ASD [4].”
BackgroundPrandota, J. (2010) · Research in Autism · doi:10.1016/j.rasd.2010.03.009 · Cited by 34
The Correlation between Rates of Cancer and Autism: An Exploratory Ecological Investigation
Kao, H., Buka, S. L., Kelsey, K. T., Gruber, D. F., & Porton, B. (2010) · PLoS ONE · doi:10.1371/journal.pone.0009372 · Cited by 34
“Previous studies have reported that children with autism possess a higher number of genetic aberrations, including higher levels of chromosomal rearrangements [2] and copy number variations [3,4,5,6,7].”
BackgroundGABRB3, Epilepsy, and Neurodevelopment
Tanaka, M., DeLorey, T. M., Delgado‐Escueta, A. V., & Olsen, R. W. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780199746545.003.0070 · Cited by 33
Ornoy, A., Echefu, B. E., & Becker, M. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms251910469 · Cited by 36
Chen, C., Chen, H.-I., Chien, W., Li, L., Wu, Y., Chiu, Y., Tsai, W., & Gau, S. S. (2017) · Scientific Reports · doi:10.1038/s41598-017-12081-4 · Cited by 34
Autism throughout genetics: Perusal of the implication of ion channels
Daghsni, M., Rima, M., Fajloun, Z., Ronjat, M., Brusés, J. L., Mrad, R., & WAARD, M. M. D. (2018) · Brain and Behavior · doi:10.1002/brb3.978 · Cited by 35
Polymorphisms in Genes Involved in Testosterone Metabolism in Slovak Autistic Boys
Schmidtová, E., Kelemenová, S., Celec, P., Ficek, A., & Ostatníková, D. (2010) · The Endocrinologist · doi:10.1097/ten.0b013e3181f661d2 · Cited by 33
Moreira, D. P., Griesi‐Oliveira, K., Bossolani-Martins, A. L., Lourenço, N. C. V., Takahashi, V., da Rocha, K. M., Moreira, E. S., Vadasz, E., Meira, J. G. C., Bertola, D. R., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0107705 · Cited by 33
“3 deletions and maternally inherited duplications at 15q11-q13 have been implicated in an increased risk of ASD [28,56,57].”
BackgroundChien, Y., Chou, M., Chiu, Y., Chou, W., Wu, Y., Tsai, W., & Gau, S. S. (2017) · Molecular Autism · doi:10.1186/s13229-017-0153-9 · Cited by 32
Alinejad‐Rokny, H., Heng, J. I., & Forrest, A. R. R. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.108307 · Cited by 30
Baker, E. K., Godler, D. E., Bui, M., Hickerton, C. L., Rogers, C., Field, M., Amor, D. J., & Bretherton, L. (2018) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-018-9242-0 · Cited by 30
Genomic Imprinting and Human Psychology: Cognition, Behavior and Pathology
Goos, L. M., & Ragsdale, G. (2008) · Advances in experimental medicine and biology · doi:10.1007/978-0-387-77576-0_6 · Cited by 30
Schneider, M., Debbané, M., Lagioia, A., Salomon, R., D’Argembeau, A., & Eliez, S. (2012) · Developmental Cognitive Neuroscience · doi:10.1016/j.dcn.2011.12.004 · Cited by 33
“Some candidate genes have also been identified for psychiatric dysfunction, mainly for impairments in social interaction (Vorstman et al., 2006) and psychosis (see Drew et al.”
BackgroundThe role of rare structural variants in the genetics of autism spectrum disorders
Kusenda, M., & Sebat, J. L. (2008) · Cytogenetic and Genome Research · doi:10.1159/000184690 · Cited by 29
Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation
Nomura, J., & Takumi, T. (2012) · Neural Plasticity · doi:10.1155/2012/589524 · Cited by 29
“This locus has been known as the most frequent cytogenetic abnormality in ASD [36, 37].”
BackgroundViolent behavior in autism spectrum disorders: Who's at risk?
Pozzo, J. D., Roché, M. W., & Silverstein, S. M. (2018) · Aggression and Violent Behavior · doi:10.1016/j.avb.2018.01.007 · Cited by 33
“…evidence suggests that specific genetic alterations or deletions (e.g., chromosome 22q11; NRXN1) increase the likelihood of the development of both ASD and schizophrenia (Kim et al., 2008; Kirov et al., 2008; Marshall et al., 2008; Rapoport et al., 2009; Vortsman et al., 2006; Weiss et al., 2008).”
BackgroundMutation screening of the ARX gene in patients with autism
Chaste, P., Nygren, G., Anckarsäter, H. S., Råstam, M., Coleman, M., Leboyer, M., Gillberg, C., & Betancur, C. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30440 · Cited by 29
“The higher prevalence of males together with the description of cases with chromosomal aberrations involving the X chromosome (Vorstman et al., 2006), suggest the implication of X-linked genes in autism.”
Functional genomics of human brain development and implications for autism spectrum disorders
Ziats, M. N., Grosvenor, L. P., & Rennert, O. M. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.153 · Cited by 27
Autism and cytogenetic abnormalities: Solving autism one chromosome at a time
Martin, C. L., & Ledbetter, D. H. (2007) · Current Psychiatry Reports · doi:10.1007/s11920-007-0084-9 · Cited by 27
Fricano-Kugler, C. J., Gordon, A., Shin, G. S., Gao, K., Nguyen, J., Berg, J. M., Starks, M., & Geschwind, D. H. (2019) · Molecular Autism · doi:10.1186/s13229-019-0278-0 · Cited by 27
“Copy number variations (CNVs) in the 15q11-13 chromosomal region are among the most reported genetic abnormalities in ASD [1, 2], due to multiple chromosomal breakpoints (BPs) in this region that are highly susceptible to homologous recombination [3, 4].”
BackgroundThe Autism Genome Project (AGP), Vieland, V. J., Hallmayer, J. F., Huang, Y., Pagnamenta, A. T., Pinto, D., Khan, H., Monaco, A. P., Paterson, A. D., Scherer, S. W., et al. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9072-9 · Cited by 26
“This signal is directly over the known Prader–Willi ASD locus (van der Zwaag et al. 2010; Vorstman et al. 2006).”
BackgroundNo evidence that common genetic risk variation is shared between schizophrenia and autism
Vorstman, J. A. S., Anney, R., Derks, E. M., Gallagher, L., Gill, M., de Jonge, M. V., van Engeland, H., Kahn, R. S., & Ophoff, R. A. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32121 · Cited by 25
“Recently, rare structural genetic variation, mostly copy number variants (CNVs) has been shown to be enriched in individuals with autism [Vorstman et al., 2006; Pinto et al., 2010; Sanders et al., 2011] and with schizophrenia [International Schizophrenia Consortium, 2008; Stefansson et al.,…”
BackgroundSelf-citationThe neurobiology of mouse models syntenic to human chromosome 15q
Takumi, T. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9088-1 · Cited by 24
“2; and (3) single gene mutations such as NLGN3/4, NRXN1, and SHANK2/3 (Abrahams and Geschwind 2008; Berkel et al. 2010; Cook and Scherer 2008; Kumar et al. 2008; Marshall et al. 2008; Pinto et al. 2010; Toro et al. 2010; Vorstman et al. 2006; Weiss et al. 2008).”
BackgroundInfluential11q24.2‐25 micro‐rearrangements in autism spectrum disorders: Relation to brain structures
Maruani, A., Huguet, G., Beggiato, A., Elmaleh, M., Toro, R., Leblond, C. S., Mathieu, A., Amsellem, F., Lemière, N., Verloès, A., et al. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37345 · Cited by 30
“, 2011] and two studies have detected CNVs alteringNTM in ASD and ID [Vorstman et al., 2006; Cooper et al., 2011].”
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism
Castermans, D., Thienpont, B., Volders, K., Crepel, A., Vermeesch, J. R., Schrander-Stumpel, C. T. R. M., de Ven, W. J. M. V., Steyaert, J. G., Creemers, J. W. M., & Devriendt, K. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.71 · Cited by 25
Newbury, D. F., Warburton, P., Wilson, N., Bacchelli, E., Carone, S., Lamb, J. A., Maestrini, E., Volpi, E. V., Mohammed, S. N., Baird, G., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32704 · Cited by 24
Wang, L., Hranilović, D., Wang, K., Lindquist, I. E., Yurcaba, L., Petković, Z. B., Gidaya, N. B., Jernej, B., Hakonarson, H. H., & Bućan, M. (2010) · BMC Medical Genetics · doi:10.1186/1471-2350-11-134 · Cited by 26
“Previous linkage and candidate gene studies have identified several chromosomal regions with autism susceptibility loci [3,9-13].”
BackgroundRecent Advances in the Pathogenesis of Syndromic Autisms
Benvenuto, A., Manzi, B., Alessandrelli, R., Galasso, C., & Curatolo, P. (2009) · International Journal of Pediatrics · doi:10.1155/2009/198736 · Cited by 24
“A wide number of cytogenetic abnormalities have been described [26], particularly in the low functioning autistic population with dysmorphic features [27].”
Charalsawadi, C., Maisrikhaw, W., Praphanphoj, V., Wirojanan, J., Hansakunachai, T., Roongpraiwan, R., Sombuntham, T., Ruangdaraganon, N., & Limprasert, P. (2014) · Cytogenetic and Genome Research · doi:10.1159/000365909 · Cited by 23
“In addition, abnormalities of chromosome 5, especially at 5p14, and multiple locations of chromosome 7 are also frequently observed (The Autism Chromosome Rearrangement Database) [Vorstman et al., 2006].”
BackgroundThe Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain
Bayou, N., Mrad, R., Belhadj, A., Daoud, H., Zemni, R., Briault, S., Helayem, M. B., Jemâa, L. B., & Chaâbouni, H. (2008) · Comparative and Functional Genomics · doi:10.1155/2008/609684 · Cited by 23
“About 3–6% of autism cases are associated with chromosomal abnormalities [4].”
BackgroundChen, C., Chen, H.-I., Liao, H.-M., Chen, Y.-J., Fang, J., Lee, K.-F., & Gau, S. S. (2016) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000151 · Cited by 24
“3 is a hot region of genomic rearrangement and associated with ASD (Vorstman et al., 2006; Betancur and Buxbaum, 2013; Menashe et al., 2013; Moreira et al., 2014).”
BackgroundInfluentialSalehi, P., Herzig, L., Capone, G. T., Lu, A., Oron, A. P., & Kim, S. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.40665 · Cited by 23
Guerra, D. J. (2011) · Autism Research and Treatment · doi:10.1155/2011/398636 · Cited by 23
“Besides chromosome 16, the highest proportion of autism-linked maternal chromosomal abnormalities is found on 15q with other less frequent deletions or duplications on chromosomes 2q and 22q [47, 59].”
BackgroundA Brain Region-Specific Predictive Gene Map for Autism Derived by Profiling a Reference Gene Set
Kumar, A., Swanwick, C. C., Johnson, N., Menashe, I., Basu, S. N., Bales, M. E., & Banerjee‐Basu, S. (2011) · PLoS ONE · doi:10.1371/journal.pone.0028431 · Cited by 23
“In a minor proportion of cases, chromosomal aberrations have been identified [13].”
Calculating the statistical significance of rare variants causal for Mendelian and complex disorders
Rao, A. R., & Nelson, S. F. (2018) · BMC Medical Genomics · doi:10.1186/s12920-018-0371-9 · Cited by 23
Poot, M. (2013) · Molecular Syndromology · doi:10.1159/000350041 · Cited by 22
Alteraciones psicopatológicas en el síndrome de Prader-Willi
Guinovart, M., Coronas, R., & Caixàs, A. (2019) · Endocrinología Diabetes y Nutrición · doi:10.1016/j.endinu.2019.03.004 · Cited by 21
Genetische und hirnstrukturelle Anomalien bei Autismus-Spektrum-Störungen
Nickl‐Jockschat, T., & Michel, T. M. (2010) · Der Nervenarzt · doi:10.1007/s00115-010-2989-5 · Cited by 21
X-Linked Ichthyosis: New Insights Into a Multi-System Disorder
Wren, G. H., & Davies, W. (2022) · Skin Health and Disease · doi:10.1002/ski2.179 · Cited by 20
“Phenotype‐first approaches have highlighted a preponderance of STS‐spanning deletions in people with autism.(64) In Kent and colleagues' genotype‐first approach,(33) boys with XLI were also screened for autism.”
BackgroundWarren, Z. E., Vehorn, A. C., Dohrmann, E. H., Nicholson, A. G., Sutcliffe, J. S., & Veenstra-VanderWeele, J. M. (2011) · Autism Research · doi:10.1002/aur.230 · Cited by 19
“…visible chromosomal abnormalities (e.g., translocations, inversions, large deletions and duplications) in up to 3–5% of cases presenting with ASD, most commonly in patients with significant dysmorphic features and medical co-morbidity [Vorstman et al., 2006; Wassink, Piven, & Patil, 2001].”
Background
Metadata
- Authors
- Vorstman, J. A. S., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F. R., & Franke, L.
- Affiliations
- Utrecht University (NL)
- University Medical Center Utrecht (NL)
- Corresponding author
- Vorstman, J A S
- Venue
- Molecular Psychiatry
- Published
- 2005-10-04
- Volume
- 11
- Issue
- 1
- Pages
- 18-28
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- OpenAlex
- W2134175099
- Cited by
- 353
- References
- 103
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 5 · 2023: 3 · 2022: 4 · 2021: 4 · 2020: 9 · 2019: 15 · 2018: 10 · 2017: 20 · 2016: 11 · 2015: 17 · 2014: 18 · 2013: 21 · 2012: 27
- FWCI
- 14.02
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Psychiatry (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, chromosomal abnormalities, candidate genomic regions, chromosome 15q11-q13, chromosome 22q11.2, chromosome 2q37, chromosome 17p11.2, segmental duplication
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