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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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Strong association of de novo copy number mutations with autism
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“2 (MIM 610883), most likely because we limited our cases to more strictly defined ASD.”
BackgroundInfluentialAdvances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
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“UBE3A 15q11-13 chr15: 21200234–26208861 Dup MLPA, qPCR 8 0 7 (5) 0 6:0:2 (75%) 1 3 10(25) ,0.”
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“Notably, microduplications or microdeletions of the region 15q11q13, which is subject to parental imprinting, have been repeatedly reported in subjects with autism.(71,72) Moreover, in Turner's syndrome, women who have monosomy of the X chromosome (X0), often have autistic traits which are correlated with the parental…”
BackgroundRecurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731
“Microscopically visible chromosomal rearrangements such as deletions and duplications have been identified in 1–3% of autism subjects (5).”
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Morrow, E. M., Yoo, S.-Y., Flavell, S. W., Kim, T.-K., Lin, Y., Hill, R. S., Mukaddes, N. M., Balkhy, S., Gascon, G., Hashmi, A., et al. (2008) · Science · doi:10.1126/science.1157657 · Cited by 737
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
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Disruption of neurexin 1 associated with autism spectrum disorder
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“Novel structural mutations Large cytogenetic aberration”
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Melke, J., Goubran Botros, H., Chaste, P., Betancur, C., Nygren, G., Anckarsäter, H., Rastam, M., Ståhlberg, O., Gillberg, I. C., Delorme, R., et al. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002016 · Cited by 511
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“Autism is one of the most heritable neuropsychiatric disorders (Geschwind and Levitt, 2007), suggesting that genetic factors play an important role in its etiology (Vorstman et al., 2006).”
Autism genetics: opportunities and challenges for clinical translation
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“The combination of observations obtained from karyotyping and FISH provided a first glimpse of the genetic heterogeneity of ASDs 13 .”
Self-citationThe Genetic Landscapes of Autism Spectrum Disorders
Huguet, G., Ey, E., & Bourgeron, T. (2013) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153431 · Cited by 486
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“In a minor proportion of cases, chromosomal aberrations have been identified (13).”
BackgroundBucan, M., Abrahams, B. S., Wang, K., Glessner, J. T., Herman, E. I., Sonnenblick, L. I., Alvarez Retuerto, A. I., Imielinski, M., Hadley, D., Bradfield, J. P., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000536 · Cited by 424
Genomic rearrangements and sporadic disease
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“High-resolution genome analysis may identify the cause of traits previously intractable to conventional genetic analysis, as was shown recently for autism spectrum disorder”
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“2 and Xq (Vorstman et al., 2006).”
Stankiewicz, P., & Beaudet, A. L. (2007) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2007.04.009 · Cited by 331
“[67 ].”
A unified genetic theory for sporadic and inherited autism
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Jacquemont, M.-L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V, Lyonnet, S., Amiel, J., Le Merrer, M., Heron, D., de Blois, M.-C., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.043166 · Cited by 305
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Changes in the Development of Striatum Are Involved in Repetitive Behavior in Autism
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“MuSK activation is required for AChR receptor clustering and the proper formation of the NMJ (DeChiara et al. 1996, Wallace 1989).”
Heterogeneous dysregulation of microRNAs across the autism spectrum
Abu-Elneel, K., Liu, T., Gazzaniga, F. S., Nishimura, Y., Wall, D. P., Geschwind, D. H., Lao, K., & Kosik, K. S. (2008) · neurogenetics · doi:10.1007/s10048-008-0133-5 · Cited by 271
“Cytogenetic abnormalities at many different loci on all chromosomes have been detected in >5% of affected children [12], and de novo copy number variation (CNV) has been associated with autism spectrum disorders (ASDs) [13, 14, 10].”
BackgroundGenetics and epigenetics of autism spectrum disorder—current evidence in the field
Wiśniowiecka‐Kowalnik, B., & Nowakowska, B. (2019) · Journal of Applied Genetics · doi:10.1007/s13353-018-00480-w · Cited by 249
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“3 (Freitag, 2007; Vorstman et al., 2006).”
The ups and downs of Wnt signaling in prevalent neurological disorders
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“Third, twin and family studies have provided compelling evidence for a strong genetic component among autistic individuals (Folstein et al., 2003; Hu-Lince et al., 2005; Vorstman et al., 2006).”
BackgroundGenetics of autistic disorders: review and clinical implications
Freitag, C. M., Staal, W., Klauck, S. M., Duketis, E., & Waltes, R. (2009) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-009-0076-x · Cited by 225
“Some studies aimed to elicit candidate genes or candidate gene regions by a detailed analysis of the boundaries of the cytogenetic abnormalities found in AD [82].”
InfluentialSelf-citationRecent Advances in the Genetics of Autism
Gupta, A. R., & State, M. W. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.06.020 · Cited by 207
Corbett, B. A., Kantor, A. B., Schulman, H., Walker, W. L., Lit, L., Ashwood, P., Rocke, D. M., & Sharp, F. R. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001943 · Cited by 197
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“Using these strategies, several studies have implicated the chromosomal region 16p13 [IMGSAC, 1998; Philippe et al., 1999; IMGSAC, 2001; Lucarelli et al., 2003; Bhalla et al., 2004; Barnby et al., 2005; Vorstman et al., 2006].”
MethodAutistic spectrum disorders: A review of clinical features, theories and diagnosis
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“Among these abnormalities, it was found that GABA receptor subunit genes GABRB3, GABRA5 and GABRG3 were closely associated with the pathophysiology of ASD (Kim et al., 2006; Klauck, 2006; Vorstman et al., 2006).”
BackgroundThe array CGH and its clinical applications
Shinawi, M. S., & Cheung, S. W. (2008) · Drug Discovery Today · doi:10.1016/j.drudis.2008.06.007 · Cited by 208
Connecting Genes to Brain in the Autism Spectrum Disorders
Abrahams, B. S., & Geschwind, D. H. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.47 · Cited by 193
“Cytogenetic studies identified recurrent, maternally inherited duplications of chromosome 15q11-13, which along with other rare chromosomal abnormalities remains an important cause of the ASDs.(3) More recently, individual genes of major effect (eg, NLGN4, NRXN1, and SHANK3) have been identified by resequencing or arr…”
InfluentialLiu, X., Kawamura, Y., Shimada, T., Otowa, T., Koishi, S., Sugiyama, T., Nishida, H., Hashimoto, O., Nakagami, R., Tochigi, M., et al. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2009.140 · Cited by 195
The study of autism as a distributed disorder
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Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion)
Antshel, K. M., Aneja, A., Strunge, L., Peebles, J., Fremont, W. P., Stallone, K., AbdulSabur, N., Higgins, A. M., Shprintzen, R. J., & Kates, W. R. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0308-6 · Cited by 183
Autism genetics: searching for specificity and convergence
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“Additional examples of ‘major hits’ come from early cyto genetic studies, such as maternally inherited dupli cations of 15q1115q13, deletions of 22q13, deletions of 2q37, and disruptions in 5p15, 17p11, and Xp22 [74].”
BackgroundEtiologies underlying sex differences in autism spectrum disorders
Schaafsma, S. M., & Pfaff, D. W. (2014) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2014.03.006 · Cited by 178
“3 have been reported in individuals diagnosed with ASD (Chocholska et al., 2006; Chung et al., 2011; Kent et al., 2008; Vorstman et al., 2006; Yan et al., 2005).”
Heyman, I. (2006) · BMJ · doi:10.1136/bmj.333.7565.424 · Cited by 187
Genetics evaluation for the etiologic diagnosis of autism spectrum disorders
Schaefer, G. B., & Mendelsohn, N. J. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31815efdd7 · Cited by 181
Rosenfeld, J. A., Ballif, B. C., Torchia, B. S., Sahoo, T., Ravnan, J. B., Schultz, R., Lamb, A., Bejjani, B. A., & Shaffer, L. G. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181f0c5f3 · Cited by 169
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 176
Moreno-De-Luca, D., Sanders, S. J., Willsey, A. J., Mulle, J. G., Lowe, J. K., Geschwind, D. H., State, M. W., Martin, C. L., & Ledbetter, D. H. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.138 · Cited by 161
“11,12 Our assessment shows that, although present in the cohorts we analyzed, the frequency of these gains in ASD populations is close to 1 in 500, below the previously reported 1%.”
BackgroundUrraca, N., Cleary, J., Brewer, V., Pivnick, E. K., McVicar, K., Thibert, R. L., Schanen, N. C., Esmer, C., Lamport, D., & Reiter, L. T. (2013) · Autism Research · doi:10.1002/aur.1284 · Cited by 164
“2-q13 Syndrome Includes Autism,”
Depienne, C., Moreno‐De‐Luca, D., Héron, D., Bouteiller, D., Gennetier, A., Delorme, R., Chaste, P., Siffroi, J., Chantot‐Bastaraud, S., Benyahia, B., et al. (2009) · Biological Psychiatry · doi:10.1016/j.biopsych.2009.01.025 · Cited by 164
“ASDs are etiologically heterogeneous, with an underlying genetic disorder identified in 10%-25% of cases.”
InfluentialMultiple rare variants in the etiology of autism spectrum disorders
Buxbaum, J. D. (2009) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2009.11.1/jdbuxbaum · Cited by 158
Schubert, D., Martens, G. J. M., & Kolk, S. M. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.147 · Cited by 157
Deregulation of EIF4E: a novel mechanism for autism
Neves-Pereira, M., Müller, B., Massie, D., Williams, J. H. G., O’Brien, P. C. M., Hughes, A., Shen, S.-B., Clair, D. S., & Miedzybrodzka, Z. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.066852 · Cited by 142
“Microscopic chromosomal rearrangements are seen in 3–6% of autism,”
BackgroundBadcock, C., & Crespi, B. J. (2006) · Journal of Evolutionary Biology · doi:10.1111/j.1420-9101.2006.01091.x · Cited by 151
“The regions 15q11–q13 contains a large cluster of imprinted genes, and cytological abnormalities in this region have consistently been linked to autism (ClaytonSmith et al., 1993; Flejter et al., 1996; Browne et al., 1997; Cook et al., 1997a; Schroer et al., 1998; Mohandas et al., 1999; Roberts et al., 2002; Battaglia…”
BackgroundInfluentialGenetics of autism spectrum disorders
Kumar, R. A., & Christian, S. L. (2009) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-009-0029-2 · Cited by 150
Array-Based DNA Diagnostics: Let the Revolution Begin
Beaudet, A. L., & Belmont, J. W. (2007) · Annual Review of Medicine · doi:10.1146/annurev.med.59.012907.101800 · Cited by 144
Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism
van der Zwaag, B., Franke, L., Poot, M., Hochstenbach, R., Spierenburg, H. A., Vorstman, J. A. S., van Daalen, E., de Jonge, M. V., Verbeek, N. E., Brilstra, E. H., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005324 · Cited by 147
“We recently published an overview of cytogenetic regions that revealed recurrent aberrations in autistic individuals [4].”
BackgroundMethodInfluentialSelf-citationIMGSAC, Maestrini, E., Pagnamenta, A. T., Lamb, J. A., Bacchelli, E., Sykes, N. H., Sousa, I., Toma, C., Barnby, G., Butler, H., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.34 · Cited by 143
Unexplained autism is frequently associated with low-level mosaic aneuploidy
Yurov, Y. B., Vorsanova, S. G., Iourov, I. Y., Ia, D., Beresheva, A. K., Kravetz, V. S., Monakhov, V. V., Kolotii, A. D., Voinova-Ulas, V. Y., & Gorbachevskaya, N. L. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.049312 · Cited by 135
“The cerebellum may be involved in a widely distributed neuronal network responsible for social cognition and communication [1-3].”
BackgroundInfluentialClinical genetics evaluation in identifying the etiology of autism spectrum disorders
Schaefer, G. B., & Mendelsohn, N. J. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31816b5cc9 · Cited by 143
Evidence for multiple loci from a genome scan of autism kindreds
Schellenberg, G. D., Dawson, G., Sung, Y. J., Estes, A., Munson, J., Rosenthal, E., Rothstein, J., Flodman, P., Smith, M., Coon, H., et al. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001874 · Cited by 129
Prader–Willi syndrome and autism spectrum disorders: an evolving story
Dykens, E. M., Lee, E., & Roof, E. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9092-5 · Cited by 140
“Persons with isodicentric 15 syndrome are also at high risk for autism and maternally inherited duplications of the 15q11–q13 region are relatively frequent in idiopathic autism, seen in 1–3% of these cases (e.g., Bolton et al. 2001; Vortsman et al. 2006).”
BackgroundClinical Utility of Contemporary Molecular Cytogenetics
Bejjani, B. A., & Shaffer, L. G. (2008) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164207 · Cited by 123
Regulation of neuronal migration, an emerging topic in autism spectrum disorders
Reiner, O., Karzbrun, E., Kshirsagar, A., & Kaibuchi, K. (2015) · Journal of Neurochemistry · doi:10.1111/jnc.13403 · Cited by 129
Channelopathy pathogenesis in autism spectrum disorders
Schmunk, G., & Gargus, J. J. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00222 · Cited by 126
“This region spans the imprinted Angelman/Prader-Willi region, and both Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are themselves important single locus models of ASD (Vorstman et al., 2006; Depienne et al., 2009; Dykens et al., 2011).”
BackgroundGenomic Copy Number Variation in Disorders of Cognitive Development
Morrow, E. M. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.08.009 · Cited by 124
CNV biology in neurodevelopmental disorders
Takumi, T., & Tamada, K. (2018) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2017.12.004 · Cited by 121
An endocannabinoid-regulated basolateral amygdala–nucleus accumbens circuit modulates sociability
Folkes, O. M., Báldi, R., Kondev, V., Marcus, D. J., Hartley, N. D., Turner, B. D., Ayers, J. K., Baechle, J. J., Misra, M. P., Altemus, M., et al. (2020) · Journal of Clinical Investigation · doi:10.1172/jci131752 · Cited by 119
Tamada, K., Tomonaga, S., Hatanaka, F., Nakai, N., Takao, K., Miyakawa, T., Nakatani, J., & Takumi, T. (2010) · PLoS ONE · doi:10.1371/journal.pone.0015126 · Cited by 116
“In several candidate chromosomal regions with relevance for ASDs, duplication of human chromosome 15q11-13 is the most frequent chromosome rearrangement, found in 1–4% of ASDs patients [5].”
BackgroundIncreased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTor
Oguro-Ando, A., Rosensweig, C., Herman, E., Nishimura, Y., Werling, D., Bill, B. R., Berg, J. M., Gao, F., Coppola, G., Abrahams, B. S., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.124 · Cited by 117
van der Zwaag, B., Staal, W. G., Hochstenbach, R., Poot, M., Spierenburg, H. A., de Jonge, M. V., Verbeek, N. E., van 't Slot, R., van Es, M. A., Staal, F. J., et al. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31055 · Cited by 108
“The single most consistently and frequently reported genomic aberration associated with ASD is duplication at chromosome 15q11-q13 [Vorstman et al., 2006].”
BackgroundSelf-citationAlmandil, N. B., Alkuroud, D. N., AbdulAzeez, S., Alsulaiman, A. A., Elaı̈ssari, A., & Borgio, J. F. (2019) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph16040658 · Cited by 124
Hochstenbach, R., Buizer‐Voskamp, J. E., Vorstman, J. A. S., & Ophoff, R. A. (2011) · Cytogenetic and Genome Research · doi:10.1159/000332928 · Cited by 114
“…Joubert syndrome and Rett syndrome), structural chromosome rearrangements (for example, maternally transmitted 15q11–q13 duplications and many others) [reviewed by Vorstman et al., 2006], and mutations in several genes with major effect (NLGN3 , NLGN4 , NRXN1 , SHANK3) [Toro et al., 2010].”
BackgroundSelf-citationLe-Niculescu, H., McFarland, M. J., Ogden, C. A., Balaraman, Y., Patel, S. D., Tan, J., Rodd, Z. A., Paulus, M. P., Geyer, M. A., Edenberg, H. J., et al. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30707 · Cited by 110
Genetic testing in autism: how much is enough?
Herman, G. E., Henninger, N., Ratliff-Schaub, K. L., Pastore, M., Fitzgerald‐Butt, S. M., & McBride, K. L. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e31804d683b · Cited by 113
Early Infant Development and Intervention for Autism Spectrum Disorder
Sacrey, L.-A. R., Bennett, J., & Zwaigenbaum, L. (2015) · Journal of Child Neurology · doi:10.1177/0883073815601500 · Cited by 121
“One interesting recurring finding is a higher prevalence of autism spectrum disorder symptoms in the uniparental disomy genetic subtype of Prader-Willi syndrome when compared to the deletion subtype,(86,87) presumably due to the correlation between chromosome 15q11-13 and autism spectrum disorder.(88,89) Specifically,…”
BackgroundAutism spectrum disorders: The quest for genetic syndromes
Zafeiriou, D., Ververi, A., Dafoulis, V., Kalyva, E., & Vargìami, E. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32152 · Cited by 116
Autism‐associated familial microdeletion of Xp11.22
Qiao, Y., Liu, X., Harvard, C., Hildebrand, M., Rajcan‐Separovic, E., Holden, J., & Lewis, M. E. S. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01028.x · Cited by 108
Current Developments in the Genetics of Autism: From Phenome to Genome
Losh, M. C., Sullivan, P. F., Trembath, D. G., & Piven, J. (2008) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e318184482d · Cited by 111
“It is worth noting that larger-scale genomic changes also have been associated with autism (89).”
Genetics of autism spectrum disorder
Klauck, S. M. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201610 · Cited by 103
Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders
Francis, S. M., Sagar, A., Levin-Decanini, T., Liu, W., Carter, C. S., & Jacob, S. (2014) · Brain Research · doi:10.1016/j.brainres.2014.01.021 · Cited by 101
“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).”
BackgroundThe Fragile X Family of Disorders: A Model for Autism and Targeted Treatments
Hagerman, R. J., Rivera, S. M., & Hagerman, P. J. (2008) · Current Pediatric Reviews · doi:10.2174/157339608783565770 · Cited by 101
“[22].”
Castermans, D., Volders, K., Crepel, A., Backx, L., De Vos, R., Freson, K., Meulemans, S., Vermeesch, J. R., Schrander-Stumpel, C. T. R. M., De Rijk, P., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq013 · Cited by 100
“The characterization of balanced translocations is particularly useful compared with chromosomal deletions or duplications, since the identification of the breakpoint regions allows the selection of a small number of candidate genes at or near the breakpoints (23,24).”
BackgroundAutism: highly heritable but not inherited
Beaudet, A. L. (2007) · Nature Medicine · doi:10.1038/nm0507-534 · Cited by 100
Germain, N. D., Chen, P.-F., Plocik, A. M., Glatt-Deeley, H. R., Brown, J. D., Fink, J. J., Bolduc, K. A., Robinson, T. M., Levine, E. S., Reiter, L. T., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-44 · Cited by 105
“1 [1-8].”
Cataldo, I., Azhari, A., & Esposito, G. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00027 · Cited by 97
“An array of approaches, including genome-wide association studies, genetic linkage and expression analysis have been utilized to identify individual genes contributing to ASD (Veenstra-VanderWeele and Cook, 2004; Vorstman et al., 2006; Freitag, 2007; Gupta and State, 2007; Abrahams and Geschwind, 2008; Wang et al., 20…”
Method11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
Shinawi, M. S., Sahoo, T., Maranda, B., Skinner, S. A., Skinner, C. D., Chinault, A. C., Zascavage, R. R., Peters, S. U., Patel, A., Stevenson, R. E., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33878 · Cited by 98
“Chromosomal abnormalities including submicroscopic deletions and duplications are the most common recognized cause of GDD, intellectual disability, and autism spectrum disorders (ASDs) [Menten et al., 2006; Vorstman et al., 2006; Abrahams and Geschwind, 2008; Vissers et al., 2010].”
BackgroundAssociation and mutation analyses of 16p11.2 autism candidate genes
Kumar, R. A., Marshall, C. R., Badner, J. A., Babatz, T. D., Mukamel, Z., Aldinger, K. A., Sudi, J., Brune, C. W., Goh, G., KaraMohamed, S., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004582 · Cited by 95
“The frequency of microscopically visible structural chromosomal imbalances in autism is high and estimated at ,7% [11,12].”
BackgroundAutistic-like symptomatology in Prader-Willi syndrome: A review of recent findings
Dimitropoulos, A., & Schultz, R. T. (2007) · Current Psychiatry Reports · doi:10.1007/s11920-007-0086-7 · Cited by 95
Genomic and genetic aspects of autism spectrum disorder
Liu, X., & Takumi, T. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.08.108 · Cited by 95
Cai, G., Edelmann, L. J., Goldsmith, J., Cohen, N., Nakamine, A., Reichert, J. G., Hoffman, E. J., Zurawiecki, D., Silverman, J. M., Hollander, E., et al. (2008) · BMC Medical Genomics · doi:10.1186/1755-8794-1-50 · Cited by 95
“Chromosome 15q11-q13 duplications are the most common alteration in autism in prior studies [ 11 ,27-30].”
InfluentialMacrocephaly as a Clinical Indicator of Genetic Subtypes in Autism
Klein, S. D., Sharifi‐Hannauer, P., & Martínez-Agosto, J. A. (2013) · Autism Research · doi:10.1002/aur.1266 · Cited by 94
“A significant number of chromosomal CNVs, both duplications and deletions, have been associated with autistic manifestations [Vorstman et al., 2006].”
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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