Autism Spectrum Disorders and Epigenetics
Abstract
Objective Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors. Several lines of evidence suggest that epigenetics also plays an important role in ASD etiology and that it might, in fact, integrate genetic and environmental influences to dysregulate neurodevelopmental processes. The objective of this review is to illustrate how epigenetic modifications that are known to alter gene expression without changing primary DNA sequence may play a role in the etiology of ASD.Method In this review, we summarize current knowledge about epigenetic modifications to genes and genomic regions possibly involved in the etiology of ASD.Results Several genetic syndromes comorbid with ASD, which include Rett, Fragile X, Prader-Willi, Angelman, and CHARGE (Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness), all demonstrate dysregulation of epigenetic marks or epigenetic mechanisms. We report also on genes or genomic regions exhibiting abnormal epigenetic regulation in association with either syndromic (15q11-13 maternal duplication) or nonsyndromic forms of ASD. Finally, we discuss the state of current knowledge regarding the etiologic role of environmental factors linked to both the development of ASD and epigenetic dysregulation.Conclusion Data reviewed in this article highlight a variety of situations in which epigenetic dysregulation is associated with the development of ASD, thereby supporting a role for epigenetics in the multifactorial etiologies of ASD.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
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?
The critical period could be during fetal development [as suggested by in utero exposure to valproate; (164)] but also during early-postnatal development [as suggested by studies in animal models concerning the first weeks of postnatal life (157)].
“the critical period could be during fetal development [as suggested by in utero exposure to valproate; (164)] but also during early-postnatal development [as suggested by studies in animal models concerning the first weeks of postnatal life (157)].”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [164]
In humans, epigenetic mechanisms implicated in ASD may be a key mechanism through which valproate influences neurodevelopment.
“In humans epigenetic mechanisms implicated in ASD may be a key mechanism through which valproate influences neurodevelopment [34–37].”
From The contribution of environmental exposure to the etiology of autism spectrum disorder (2019) · cites this paper as [34]
Several genetic disorders with high penetrance of ASD, including Rett, Fragile-X, Prader-Willi, and Angelman syndromes, result from alterations in genes involved in epigenetic modifications.
“Several genetic disorders with high penetrance of ASD, including Rett, Fragile-X, Prader-Willi, and Angelman syndromes, result from alterations in genes involved in epigenetic modifications.”
From DNA methylation: a mechanism linking environmental chemical exposures to risk of autism spectrum disorders? (2016) · cites this paper as [151]
Rett syndrome is associated with mutations in the MECP2.
“For example, Rett syndrome is associated with mutations in the MECP2 [ 150 , 151 ].”
From DNA methylation: a mechanism linking environmental chemical exposures to risk of autism spectrum disorders? (2016) · cites this paper as [151]
Cites
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 · see citing works
Diagnostic and Statistical Manual of Mental Disorders ( DSM ‐ IV ‐ TR )
Segal, D. L. (2010) · Wiley eBooks · doi:10.1002/9780470479216.corpsy0271 · Cited by 4,683 · see citing works
Nan, X., Ng, H.-H., Johnson, C. A., Laherty, C. D., Turner, B. M., Eisenman, R. N., & Bird, A. (1998) · Nature · doi:10.1038/30764 · Cited by 3,440 · see citing works
DNA methylation landscapes: Provocative insights from epigenomics
Suzuki, M. M., & Bird, A. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2341 · Cited by 3,039 · see citing works
Bird, A. (2007) · Nature · doi:10.1038/nature05913 · Cited by 3,011 · see citing works
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
Jones, P. L., Veenstra, G. J. C., Wade, P. A., Vermaak, D., Kass, S. U., Landsberger, N., Strouboulis, J., & Wolffe, A. P. (1998) · Nature Genetics · doi:10.1038/561 · Cited by 2,734 · see citing works
Advances 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 · see citing works
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823 · see citing works
Phiel, C. J., Zhang, F., Huang, E. Y., Guenther, M. G., Lazar, M. A., & Klein, P. S. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m101287200 · Cited by 1,758 · see citing works
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
DNA Methylation-Related Chromatin Remodeling in Activity-Dependent <i>Bdnf</i> Gene Regulation
Martinowich, K., Hattori, D., Wu, H., Fouse, S., He, F., Hu, Y., Fan, G., & Sun, Y. E. (2003) · Science · doi:10.1126/science.1090842 · Cited by 1,405 · see citing works
Epigenetic regulation in psychiatric disorders
Tsankova, N., Renthal, W., Kumar, A., & Nestler, E. J. (2007) · Nature reviews. Neuroscience · doi:10.1038/nrn2132 · Cited by 1,400 · see citing works
Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2
Chen, W. G., Chang, Q., Lin, Y., Meissner, A., West, A. E., Griffith, E. C., Jaenisch, R., & Greenberg, M. E. (2003) · Science · doi:10.1126/science.1086446 · Cited by 1,232 · see citing works
The Epidemiology of Autism Spectrum Disorders
Newschaffer, C. J., Croen, L. A., Daniels, J., Giarelli, E., Grether, J. K., Levy, S. E., Mandell, D. S., Miller, L. A., Pinto-Martin, J., Reaven, J., et al. (2007) · Annual Review of Public Health · doi:10.1146/annurev.publhealth.28.021406.144007 · Cited by 1,228 · see citing works
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207 · see citing works
Courchesne, E., & Pierce, K. (2005) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2005.03.001 · Cited by 968 · see citing works
DeBaun, M. R., Niemitz, E. L., & Feinberg, A. P. (2003) · The American Journal of Human Genetics · doi:10.1086/346031 · Cited by 917 · see citing works
Intellectual disability and its relationship to autism spectrum disorders
Matson, J. L., & Shoemaker, M. (2009) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2009.06.003 · Cited by 833 · see citing works
Butler, M. G., Dasouki, M. J., Zhou, X.-P., Talebizadeh, Z., Brown, M., Takahashi, T. N., Miles, J. H., Wang, C. H., Stratton, R., Pilarski, R., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.024646 · Cited by 778 · see citing works
(2005) · PubMed · Cited by 775 · see citing works
Tissir, F., & Goffinet, A. M. (2003) · Nature reviews. Neuroscience · doi:10.1038/nrn1113 · Cited by 748 · see citing works
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function
Skuse, D. H., James, R. S., Bishop, D. V. M., Coppin, B., Dalton, P., Aamodt-Leeper, G., Bacarese-Hamilton, M., Creswell, C., McGurk, R., & Jacobs, P. A. (1997) · Nature · doi:10.1038/42706 · Cited by 747 · see citing works
FMR1 and the fragile X syndrome: Human genome epidemiology review
Crawford, D. C., Acuña, J. M., & Sherman, S. L. (2001) · Genetics in Medicine · doi:10.1097/00125817-200109000-00006 · Cited by 711 · see citing works
DNA methylation: The nuts and bolts of repression
Miranda, T. B., & Jones, P. A. (2007) · Journal of Cellular Physiology · doi:10.1002/jcp.21224 · Cited by 685 · see citing works
Sahoo, T., del Gaudio, D., German, J. R., Shinawi, M. S., Peters, S. U., Person, R., Garnica, A. D., Cheung, S. W., & Beaudet, A. L. (2008) · Nature Genetics · doi:10.1038/ng.158 · Cited by 672 · see citing works
Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes
Nicholls, R. D., & Knepper, J. L. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.153 · Cited by 625 · see citing works
James, S. J., Melnyk, S., Jernigan, S., Cleves, M. A., Halsted, C. H., Wong, D. H., Cutler, P., Bock, K., Boris, M., Bradstreet, J., et al. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30366 · Cited by 605 · see citing works
Prader‐Willi syndrome: Current understanding of cause and diagnosis
Butler, M. G. (1990) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320350306 · Cited by 581 · see citing works
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
Gregory, S. G., Connelly, J. J., Towers, A. J., Johnson, J., Biscocho, D., Markunas, C. A., Lintas, C., Abramson, R. K., Wright, H. H., Ellis, P., et al. (2009) · BMC Medicine · doi:10.1186/1741-7015-7-62 · Cited by 576 · see citing works
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART): Table 1
Maher, E. R., Brueton, L. A., Bowdin, S. C., Luharia, A., Cooper, W., Cole, T. R., Macdonald, F., Sampson, J. R., Barratt, C. L. R., Reik, W., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.1.62 · Cited by 574 · see citing works
A clinical study of 57 children with fetal anticonvulsant syndromes
Moore, S. J., Turnpenny, P., Quinn, A., Glover, S., Lloyd, D. J., Montgomery, T., & Dean, J. C. S. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.7.489 · Cited by 562 · see citing works
Positive Association of the Oxytocin Receptor Gene (OXTR) with Autism in the Chinese Han Population
Wu, S., Jia, M., Ruan, Y., Liu, J., Guo, Y., Mei, S., Gong, X., Zhang, Y., Yang, X., & Zhang, D. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.03.013 · Cited by 553 · see citing works
Shahbazian, M. D. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.2.115 · Cited by 545 · see citing works
Valproic acid in pregnancy: how much are we endangering the embryo and fetus?
Ornoy, A. (2009) · Reproductive Toxicology · doi:10.1016/j.reprotox.2009.02.014 · Cited by 526 · see citing works
Pardo, C. A., & Eberhart, C. G. (2007) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00102.x · Cited by 514 · see citing works
Epigenetic mechanisms in mammals
Kim, J. K., Samaranayake, M., & Pradhan, S. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-008-8432-4 · Cited by 492 · see citing works
Young, J. I., Hong, E. P., Castle, J. C., Crespo-Barreto, J., Bowman, A. B., Rose, M. F., Kang, D., Richman, R., Johnson, J. M., Berget, S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0507856102 · Cited by 484 · see citing works
Fragile X Syndrome: Diagnosis, Treatment, And Research
Silverman, & Cronister, A. (1991) · Johns Hopkins University Press eBooks · Cited by 481 · see citing works
Characteristics of fetal anticonvulsant syndrome associated autistic disorder
Rasalam, A., Hailey, H., Williams, J., Moore, S., Turnpenny, P., Lloyd, D., & Dean, J. (2005) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162205001076 · Cited by 456 · see citing works
Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study
Halliday, J. L., Oke, K., Breheny, S., Algar, E. M., & Amor, D. J. (2004) · The American Journal of Human Genetics · doi:10.1086/423902 · Cited by 431 · see citing works
Cancer Incidence and Mortality After Treatment With Folic Acid and Vitamin B12
Ebbing, M. (2009) · JAMA · doi:10.1001/jama.2009.1622 · Cited by 428 · see citing works
Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism
Jacob, S., Brune, C. W., Carter, C. S., Leventhal, B. L., Lord, C., & Cook, E. H. (2007) · Neuroscience Letters · doi:10.1016/j.neulet.2007.02.001 · Cited by 425 · see citing works
Samaco, R. C., Hogart, A., & LaSalle, J. M. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi045 · Cited by 420 · see citing works
Mechanisms regulating imprinted genes in clusters
Edwards, C. A., & Ferguson‐Smith, A. C. (2007) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2007.04.013 · Cited by 406 · see citing works
Autism Profiles of Males With Fragile X Syndrome
Harris, S. W., Hessl, D., Goodlin-Jones, B., Ferranti, J., Bacalman, S., Barbato, I., Tassone, F., Hagerman, P. J., Herman, K., & Hagerman, R. J. (2008) · American Journal on Mental Retardation · doi:10.1352/2008.113:427-438 · Cited by 396 · see citing works
Sutcliffe, J. S., Delahanty, R. J., Prasad, H. C., McCauley, J. L., Han, Q., Jiang, L., Li, C., Folstein, S. E., & Blakely, R. D. (2005) · The American Journal of Human Genetics · doi:10.1086/432648 · Cited by 392 · see citing works
Abdolmaleky, H. M., Cheng, K., Russo, A. L., Smith, C. L., Faraone, S. V., Wilcox, M., Shafa, R., Glatt, S. J., Nguyen, G. H., Ponte, J. F., et al. (2005) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30140 · Cited by 390 · see citing works
Fine Mapping of Autistic Disorder to Chromosome 15q11-q13 by Use of Phenotypic Subtypes
Shao, Y., Cuccaro, M. L., Hauser, E. R., Raiford, K. L., Menold, M. M., Wolpert, C. M., Ravan, S. A., Elston, L. A., Decena, K., Donnelly, S. L., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/367846 · Cited by 382 · see citing works
Yasui, D. H., Peddada, S., Bieda, M. C., Vallero, R. O., Hogart, A., Nagarajan, R. P., Thatcher, K. N., Farnham, P., & LaSalle, J. M. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707442104 · Cited by 381 · see citing works
Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation
Clifford, S. M., Dissanayake, C., Bui, M., Huggins, R., Taylor, A. K., & Loesch, D. Z. (2006) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0205-z · Cited by 380 · see citing works
Epigenetics, DNA Methylation, and Chromatin Modifying Drugs
Moshe Szyf, A. (2008) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-061008-103102 · Cited by 372 · see citing works
Fernández-Gonzalez, R., Moreira, P., Bilbao, A., Jiménez, A., Pérez-Crespo, M., Ramírez, M. A., De Fonseca, F. R., Pintado, B., & Gutiérrez-Adán, A. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308560101 · Cited by 370 · see citing works
Aberrant DNA methylation of imprinted loci in superovulated oocytes
Satô, A., Otsu, E., Negishi, H., Utsunomiya, T., & Arima, T. (2006) · Human Reproduction · doi:10.1093/humrep/del316 · Cited by 370 · see citing works
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
Cook, E. H., Courchesne, R. Y., Cox, N. J., Lord, C., Gonen, D., Guter, S. J., Lincoln, A., Nix, K., Haas, R., Leventhal, B. L., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301832 · Cited by 369 · see citing works
Ørstavik, K. H., Eiklid, K. L., van der Hagen, C. B., Spetalen, S., Kierulf, K. H., Skjeldal, O. H., & Buiting, K. (2003) · The American Journal of Human Genetics · doi:10.1086/346030 · Cited by 367 · see citing works
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Hogart, A., Wu, D., LaSalle, J. M., & Schanen, N. C. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.08.011 · Cited by 354 · see citing works
Lerer, E., Levi, S., Salomon, S., Darvasi, A., Yirmiya, N., & Ebstein, R. P. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002087 · Cited by 349 · see citing works
Nagarajan, R., Hogart, A., Gwye, Y., Martin, M. R., & LaSalle, J. M. (2006) · Epigenetics · doi:10.4161/epi.1.4.3514 · Cited by 347 · see citing works
NSD1 is essential for early post‐implantation development and has a catalytically active SET domain
Rayasam, G. V., Wendling, O., Angrand, P., Mark, M. P., Niederreither, K., Song, L., Lerouge, T., Hager, G. L., Chambon, P., & Losson, R. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg288 · Cited by 343 · see citing works
Epigenetics of autism spectrum disorders
Schanen, N. C. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl213 · Cited by 341 · see citing works
Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder
Persico, A. M., D'Agruma, L., Maiorano, N., Totaro, A., Militerni, R., Bravaccio, C., Wassink, T. H., Schneider, C., Melmed, R., Trillo, S., et al. (2001) · Molecular Psychiatry · doi:10.1038/sj.mp.4000850 · Cited by 337 · see citing works
Rivera, R. M., Stein, P., Weaver, J. R., Mager, J., Schultz, R. M., & Bartolomei, M. S. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm280 · Cited by 324 · see citing works
Association between a GABRB3 polymorphism and autism
Buxbaum, J. D., Silverman, J. M., Smith, C. J. W., Greenberg, D. A., Kilifarski, M., Reichert, J. G., Cook, E. H., Fang, Y., Song, C.-Y., & Vitale, R. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001011 · Cited by 322 · see citing works
Mechanisms of imprinting of the Prader-Willi/Angelman region
Horsthemke, B., & Wagstaff, J. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32364 · Cited by 320 · see citing works
The impact of metabolism on DNA methylation
Ulrey, C. L., Liu, L., Andrews, L. G., & Tollefsbol, T. O. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi100 · Cited by 317 · see citing works
Physiological functions of imprinted genes
Tycko, B., & Morison, I. M. (2002) · Journal of Cellular Physiology · doi:10.1002/jcp.10129 · Cited by 316 · see citing works
Moss, J. F., & Howlin, P. (2009) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2009.01197.x · Cited by 313 · see citing works
Rosenberg, G. K. (2007) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-007-7079-x · Cited by 301 · see citing works
Reelin signaling is impaired in autism
Fatemi, S. H., Snow, A. V., Stary, J. M., Araghi-Niknam, M., Reutiman, T. J., Lee, S., Brooks, A. I., & Pearce, D. A. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2004.12.018 · Cited by 280 · see citing works
Nishimura, Y., Martin, C. L., Vazquez-Lopez, A., Spence, S. J., Alvarez-Retuerto, A. I., Sigman, M., Steindler, C., Pellegrini, S., Schanen, N. C., Warren, S. T., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm116 · Cited by 276 · see citing works
Valproate Induces widespread epigenetic reprogramming which involves demethylation of specific genes
Milutinovic, S., D'Alessio, A. C., Detich, N., & Szyf, M. (2007) · Carcinogenesis · doi:10.1093/carcin/bgl167 · Cited by 256 · see citing works
Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons
Smrt, R. D., Eaves-Egenes, J., Barkho, B. Z., Santistevan, N. J., Zhao, C., Aimone, J. B., Gage, F. H., & Zhao, X. (2007) · Neurobiology of Disease · doi:10.1016/j.nbd.2007.04.005 · Cited by 239 · see citing works
An analysis of autism in fifty males with the fragile X syndrome
Hagerman, R. J., Jackson, A. W., Levitas, A., Rimland, B., Braden, M., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230128 · Cited by 238 · see citing works
Autism in Angelman syndrome: a population-based study
Steffenburg, S., Gillberg, C., Steffenburg, U., & Kyllerman, M. (1996) · Pediatric Neurology · doi:10.1016/0887-8994(96)00011-2 · Cited by 238 · see citing works
Identification of MeCP2 mutations in a series of females with autistic disorder
Carney, R. M., Wolpert, C. M., Ravan, S. A., Shahbazian, M. D., Ashley‐Koch, A. E., Cuccaro, M. L., Vance, J. M., & Pericak‐Vance, M. A. (2003) · Pediatric Neurology · doi:10.1016/s0887-8994(02)00624-0 · Cited by 234 · see citing works
Hogart, A., Nagarajan, R. P., Patzel, K. A., Yasui, D. H., & LaSalle, J. M. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm014 · Cited by 234 · see citing works
Maddalena, A., Richards, C. S., McGinniss, M. J., Brothman, A. R., Desnick, R. J., Grier, R. E., Hirsch, B. A., Jacky, P. B., McDowell, G. A., Popovich, B. W., et al. (2001) · Genetics in Medicine · doi:10.1097/00125817-200105000-00010 · Cited by 232 · see citing works
The autistic brain: birth through adulthood
Courchesne, E., Redcay, E., & Kennedy, D. P. (2004) · Current Opinion in Neurology · doi:10.1097/01.wco.0000137542.14610.b4 · Cited by 228 · see citing works
Autism spectrum disorders in Prader???Willi and Angelman syndromes: a systematic review
Veltman, M. W. M., Craig, E. E., & Bolton, P. (2005) · Psychiatric Genetics · doi:10.1097/00041444-200512000-00006 · Cited by 218 · see citing works
The State of Synapses in Fragile X Syndrome
Pfeiffer, B. E., & Huber, K. M. (2009) · The Neuroscientist · doi:10.1177/1073858409333075 · Cited by 214 · see citing works
Bailey, D. B., Hatton, D. D., Skinner, M. L., & Mesibov, G. B. (2001) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1010747131386 · Cited by 207 · see citing works
Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations
Browne, C. E., Dennis, N. R., Maher, E. R., Long, F., Nicholson, J. C., Sillibourne, J., & Barber, J. C. K. (1997) · The American Journal of Human Genetics · doi:10.1086/301624 · Cited by 207 · see citing works
Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study
Doornbos, M. E., Maas, S. M., McDonnell, J., Vermeiden, J. P. W., & Hennekam, R. C. M. (2007) · Human Reproduction · doi:10.1093/humrep/dem172 · Cited by 207 · see citing works
Mental status of females with an FMR1 gene full mutation.
de Vries, B. B., Wiegers, A. M., Smits, A., Mohkamsing, S., Duivenvoorden, H. J., Fryns, J. P., Curfs, L., Halley, D. J. J., Oostra, B. A., van den Ouweland, A. M., et al. (1996) · PubMed Central · Cited by 206 · see citing works
Ciechanover, A. J., & Schwartz, A. L. (1994) · The FASEB Journal · doi:10.1096/fasebj.8.2.8119489 · Cited by 203 · see citing works
Jiang, Y.-H., Lev-Lehman, E., Bressler, J., Tsai, T., & Beaudet, A. L. (1999) · The American Journal of Human Genetics · doi:10.1086/302473 · Cited by 199 · see citing works
Hogart, A., Leung, K. N., Wang, N. J., Wu, D. J., Driscoll, J., Vallero, R. O., Schanen, N. C., & LaSalle, J. M. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.061580 · Cited by 199 · see citing works
Analysis of the RELN gene as a genetic risk factor for autism
Skaar, D. A., Shao, Y., Haines, J. L., Stenger, J. E., Jaworski, J. M., Martin, E. R., DeLong, G. R., Moore, J. H., McCauley, J. L., Sutcliffe, J. S., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001614 · Cited by 197 · see citing works
Imprinting defects on human chromosome 15
Horsthemke, B., & Buiting, K. (2006) · Cytogenetic and Genome Research · doi:10.1159/000090844 · Cited by 195 · see citing works
Liu, 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 · see citing works
Autism in Angelman syndrome: implications for autism research
Peters, S., Beaudet, A. L., Madduri, N., & Bacino, C. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00362.x · Cited by 193 · see citing works
Davies, W., Isles, A. R., Smith, R., Karunadasa, D. K., Burrmann, D., Humby, T., Ojarikre, O. A., Biggin, C., Skuse, D., Burgoyne, P. S., et al. (2005) · Nature Genetics · doi:10.1038/ng1577 · Cited by 192 · see citing works
Iacobuzio–Donahue, C. A. (2008) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev.pathol.3.121806.151442 · Cited by 188 · see citing works
Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype
Milner, K. M., Craig, E. E., Thompson, R. J., Veltman, M. W. M., Simon Thomas, N., Roberts, S., Bellamy, M., Curran, S. R., Sporikou, C. M. J., & Bolton, P. F. (2005) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2005.01520.x · Cited by 177 · see citing works
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 173 · see citing works
Health of Children Born as a Result of In Vitro Fertilization
Klemetti, R., Sevón, T., Gissler, M., & Hemminki, E. (2006) · PEDIATRICS · doi:10.1542/peds.2006-0735 · Cited by 170 · see citing works
Reelin gene alleles and susceptibility to autism spectrum disorders
Zhang, H., Liu, X., Zhang, C., Mundo, E., Macciardi, F. M., Grayson, D. R., Guidotti, A. R., & Holden, J. J. A. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001124 · Cited by 167 · see citing works
Genetic advances in autism: heterogeneity and convergence on shared pathways
Bill, B. R., & Geschwind, D. H. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.04.004 · Cited by 164 · see citing works
Herman, G. E., Butter, E. M., Enrile, B. G., Pastore, M., Prior, T. W., & Sommer, A. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31619 · Cited by 160 · see citing works
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 155 · see citing works
McCauley, J. L., Olson, L. M., Delahanty, R., Amin, T., Nurmi, E. L., Organ, E. L., Jacobs, M. M., Folstein, S. E., Haines, J. L., & Sutcliffe, J. S. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30038 · Cited by 155 · see citing works
Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated
Kotzot, D., & Utermann, G. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30483 · Cited by 152 · see citing works
Kim, S.-J., Cox, N. J., Yeung-Courchesne, R., Lord, C., Corsello, C. M., Akshoomoff, N., Guter, S. J., LEVENTHAL, B. L., Courchesne, E., & Cook, E. H. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001033 · Cited by 150 · see citing works
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome
Lam, C. W., YEUNG, W.-L., KO, C.-H., POON, P. M. K., TONG, S.-F., CHAN, K.-Y., Lo, I. F. M., CHAN, L. Y. S., HUI, J., WONG, V., et al. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.12.e41 · Cited by 149 · see citing works
Social behavior profile in young males with fragile X syndrome: Characteristics and specificity
Kau, A. S. M., Tierney, E., Bukelis, I., Stump, M. H., Kates, W. R., Trescher, W. H., & Kaufmann, W. E. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20218 · Cited by 149 · see citing works
Hvidtjørn, D., Schieve, L., Schendel, D., Jacobsson, B., Sværke, C., & Thorsen, P. (2009) · Archives of Pediatrics & Adolescent Medicine · doi:10.1001/archpediatrics.2008.507 · Cited by 144 · see citing works
Shibayama, A., Cook, E. H., Feng, J., Glanzmann, C., Jin, Y., Craddock, N. J., Jones, I. R., Goldman, D. A., Heston, L. L., & Sommer, S. S. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30016 · Cited by 143 · see citing works
Trillingsgaard, A., & Østergaard, J. R. (2004) · Autism · doi:10.1177/1362361304042720 · Cited by 142 · see citing works
Genetic disorders associated with macrocephaly
Williams, C. A., Dagli, A. I., & Battaglia, A. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32434 · Cited by 141 · see citing works
Characterisation of interstitial duplications and triplications of chromosome 15q11–q13
Roberts, S. E., Dennis, N. R., Browne, C. E., Willatt, L. R., Woods, G. C., Cross, I., Jacobs, P. A., & Thomas, S. N. (2002) · Human Genetics · doi:10.1007/s00439-002-0678-6 · Cited by 135 · see citing works
Veltman, M. W. M., Thompson, R. J., Roberts, S. E., Thomas, N. S., Whittington, J. E., & Bolton, P. (2004) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-004-0354-6 · Cited by 134 · see citing works
Lamb, J. A., Barnby, G., Bonora, E., Sykes, N., Bacchelli, E., Blasi, F., Maestrini, E., Broxholme, J., Tzenova, J., Weeks, D., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.025668 · Cited by 133 · see citing works
Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X
Loesch, D. Z., Bui, M., Dissanayake, C., Clifford, S. M., Gould, E. L., Bulhak‐Paterson, D., Tassone, F., Taylor, A. K., Hessl, D. R., Hagerman, R. J., et al. (2006) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2006.09.007 · Cited by 132 · see citing works
Djalali, S., Höltje, M., Große, G., Rothe, T., Stroh, T., Große, J., Deng, D. R., Hellweg, R., Grantyn, R., Hörtnagl, H., et al. (2005) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2004.02911.x · Cited by 130 · see citing works
Hite, K. C., Adams, V. H., & Hansen, J. C. (2009) · Biochemistry and Cell Biology · doi:10.1139/o08-115 · Cited by 127 · see citing works
Analysis of reelin as a candidate gene for autism
Bonora, E., Beyer, K. S., Lamb, J. A., Parr, J. R., Klauck, S. M., Benner, A., Paolucci, M., Abbott, A., Ragoussis, J., Poustka, A., et al. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001310 · Cited by 127 · see citing works
Pașca, S. P., Dronca, E., Kaucsár, T., Crăciun, E. C., Endreffy, E., Ferencz, B., Iftene, F., Benga, I., Cornean, R., Banerjee, R. V., et al. (2008) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2008.00463.x · Cited by 126 · see citing works
Association of Reelin gene polymorphisms with autism
Serajee, F., Zhong, H., & Huq, A. H. M. M. (2005) · Genomics · doi:10.1016/j.ygeno.2005.09.008 · Cited by 124 · see citing works
Engel, E., & DeLozier-Blanchet, C. D. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320400411 · Cited by 120 · see citing works
Growth Regulation, Imprinted Genes, and Chromosome 11p15.5
Smith, A. C., Choufani, S., Ferreira, J. C., & Weksberg, R. (2007) · Pediatric Research · doi:10.1203/pdr.0b013e3180457660 · Cited by 114 · see citing works
Self-citationKolozsi, E., Mackenzie, R. N., Roullet, F. I., Decatanzaro, D., & Foster, J. A. (2009) · Neuroscience · doi:10.1016/j.neuroscience.2009.07.021 · Cited by 110 · see citing works
Folic acid fortification: a double-edged sword
Lucock, M. D., & Yates, Z. R. (2009) · Current Opinion in Clinical Nutrition & Metabolic Care · doi:10.1097/mco.0b013e32833192bc · Cited by 109 · see citing works
Sharma, R. P., Rosen, C., Kartan, S., Guidotti, A., Costa, E., Grayson, D. R., & Chase, K. A. (2006) · Schizophrenia Research · doi:10.1016/j.schres.2006.07.015 · Cited by 107 · see citing works
Wassink, T. H., Hazlett, H. C., Epping, E. A., Arndt, S. V., Dager, S. R., Schellenberg, G. D., Dawson, G., & Piven, J. (2007) · Archives of General Psychiatry · doi:10.1001/archpsyc.64.6.709 · Cited by 101 · see citing works
The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits
Allan, A. M., Liang, X., Luo, Y., Pak, C., Li, X., Szulwach, K. E., Chen, D., Jin, P., & Zhao, X. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn102 · Cited by 101 · see citing works
Autistic‐like behavior in CHARGE syndrome
Hartshorne, T. S., Grialou, T. L., & Parker, K. R. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30545 · Cited by 101 · see citing works
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
Renieri, A., Mari, F., Mencarelli, M. A., Scala, E., Ariani, F., Longo, I., Meloni, I., Cevenini, G., Pini, G., Hayek, J., et al. (2008) · Brain and Development · doi:10.1016/j.braindev.2008.04.007 · Cited by 100 · see citing works
Fragile X Syndrome: Diagnosis, Treatment and Research
Turner, G. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.5.439 · Cited by 98 · see citing works
Mohandas, T. K., Park, J. P., Spellman, R. A., Filiano, J. J., Mamourian, A. C., Hawk, A. B., Belloni, D. R., Noll, W. W., & Moeschler, J. B. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990212)82:4 · Cited by 98 · see citing works
Rumajogee, P., Madeira, A., Vergé, D., Hamon, M., & Miquel, M. (2002) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.2002.01264.x · Cited by 97 · see citing works
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
Bonati, M. T., Russo, S., Finelli, P., Valsecchi, M. R., Cogliati, F., Cavalleri, F., Roberts, W., Elia, M., & Larizza, L. (2007) · Neurogenetics · doi:10.1007/s10048-007-0086-0 · Cited by 96 · see citing works
Autistic-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 · see citing works
Aberrations in folate metabolic pathway and altered susceptibility to autism
Mohammad, N. S., Jain, J. M. N., Chintakindi, K. P., Singh, R. P., Naik, U., & Akella, R. R. D. (2009) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32832cebd2 · Cited by 95 · see citing works
Descheemaeker, M., Govers, V., Vermeulen, P., & Fryns, J. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31235 · Cited by 95 · see citing works
Serotonin in autism and pediatric epilepsies
Chugani, D. C. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20021 · Cited by 93 · see citing works
Vig, S., & Jedrysek, E. (1999) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1023084106559 · Cited by 92 · see citing works
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations
Tabolacci, E., Moscato, U., Zalfa, F., Bagni, C., Chiurazzi, P., & Neri, G. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.130 · Cited by 91 · see citing works
Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism
Nishimura, K., Nakamura, K., Anitha, A., Yamada, K., Tsujii, M., Iwayama, Y., Hattori, E., Toyota, T., Takei, N., Miyachi, T., et al. (2007) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2007.02.135 · Cited by 87 · see citing works
Creswell, C. S., & Skuse, D. H. (1999) · Neurocase · doi:10.1080/13554799908402746 · Cited by 87 · cited 1× · see citing works
“In a series of TS patients, 5 of 150 3%) were diagnosed with autism by ICD-10 criteia.(93) This is five times higher than the 0.”
BackgroundMutation analysis of the coding sequence of the MECP2 gene in infantile autism
Beyer, K. S., Blasi, F., Bacchelli, E., Klauck, S. M., Maestrini, E., Poustka, A., & International Molecular Genetic Study of Autism Consortium (2002) · Human Genetics · doi:10.1007/s00439-002-0786-3 · Cited by 87 · see citing works
Genetic and epigenetic defects in mental retardation
Kramer, J. M., & van Bokhoven, H. (2008) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2008.08.009 · Cited by 87 · see citing works
Genomic imprinting and reproduction
Swales, A. K. E., & Spears, N. (2005) · Reproduction · doi:10.1530/rep.1.00395 · Cited by 82 · see citing works
Knoester, M., Helmerhorst, F. M., van der Westerlaken, L. A. J., Walther, F. J., van Veen, S., & on behalf of the Leiden Artificial Reproductive Techniques Follow-up Project (L-art-FUP) (2007) · Human Reproduction · doi:10.1093/humrep/dem261 · Cited by 81 · see citing works
Baron, C. A., Tepper, C. G., Liu, S. Y., Davis, R. R., Wang, N. J., Schanen, N. C., & Gregg, J. P. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl004 · Cited by 80 · see citing works
Features of Autism in Rett Syndrome and Severe Mental Retardation
Mount, R. H., Charman, T., Hastings, R. P., Reilly, S., & Cass, H. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1025066913283 · Cited by 79 · see citing works
Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal origin
Mao, R., Jalal, S. M., Snow, K., Michels, V. V., Szabo, S. M., & Babovic‐Vuksanovic, D. (2000) · Genetics in Medicine · doi:10.1097/00125817-200003000-00003 · Cited by 78 · see citing works
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals
Cukier, H. N., Rabionet, R., Konidari, I., Rayner‐Evans, M. Y., Baltos, M. L., Wright, H. H., Abramson, R. K., Martin, E. R., Cuccaro, M. L., Pericak‐Vance, M. A., et al. (2009) · Neurogenetics · doi:10.1007/s10048-009-0228-7 · Cited by 77 · see citing works
Nurmi, E. L., Amin, T. T., Olson, L. M., Jacobs, M. M., McCauley, J. L., Lam, A. Y., Organ, E. L., Folstein, S. E., Haines, J. L., & Sutcliffe, J. S. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001283 · Cited by 75 · see citing works
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 · see citing works
Beckwith Weidemann syndrome: A behavioral phenotype–genotype study
Kent, L., Bowdin, S. C., Kirby, G. A., Cooper, W. N., & Maher, E. R. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30729 · Cited by 72 · see citing works
Chapter 8 Genomic Imprinting and Imprinting Defects in Humans
Horsthemke, B., & Buiting, K. (2008) · Advances in genetics · doi:10.1016/s0065-2660(07)00008-9 · Cited by 71 · see citing works
Bolton, P., Veltman, M. W. M., Weisblatt, E. J. L., Holmes, J. R., Thomas, N. S., Youings, S. A., Thompson, R. J., Roberts, S. E., Dennis, N. R., Browne, C. E., et al. (2004) · Psychiatric Genetics · doi:10.1097/00041444-200409000-00002 · Cited by 71 · see citing works
Rett Syndrome: From the Gene to the Disease
Glavan, T. M., Knežević, J., Slavica, M., & Pavelić, J. (2008) · European Neurology · doi:10.1159/000165342 · Cited by 71 · see citing works
Analysis of four DLX homeobox genes in autistic probands
Hamilton, S. P., Woo, J. M., Carlson, E. J., Ghanem, N., Ekker, M., & Rubenstein, J. L. R. (2005) · BMC Genetics · doi:10.1186/1471-2156-6-52 · Cited by 71 · see citing works
Li, H., Li, Y., Shao, J., Li, R., Qin, Y., Xie, C., & Zhao, Z. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30584 · Cited by 70 · see citing works
Smith, I. M., Nichols, S. L., Issekutz, K. A., & BLAKE, K. D. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30544 · Cited by 68 · see citing works
Methyl‐CpG‐binding protein 2 polymorphisms and vulnerability to autism
Loat, C. S., Curran, S. R., Lewis, C. M., Duvall, J. A., Geschwind, D. H., Bolton, P., & Craig, I. (2008) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2008.00414.x · Cited by 64 · see citing works
Association between idiopathic infantile macrocephaly and autism spectrum disorders
Bolton, P., Roobol, M., Allsopp, L., & Pickles, A. R. (2001) · The Lancet · doi:10.1016/s0140-6736(01)05903-7 · Cited by 64 · see citing works
Do children born after assisted conception have less risk of developing infantile autism?
Maimburg, R. D., & Væth, M. (2007) · Human Reproduction · doi:10.1093/humrep/dem082 · Cited by 63 · see citing works
MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients
Coutinho, A. M., Oliveira, G., Katz, C., Feng, J., Jin, Y., Yang, C., Marques, C., Ataíde, A., Miguel, T. S., Borges, L., et al. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30490 · Cited by 63 · see citing works
Autism spectrum disorders and underlying brain pathology in CHARGE association
Johansson, M., Råstam, M., Billstedt, E., Danielsson, S., Strömland, K., Miller, M. T., & Gillberg, C. (2005) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162206000090 · Cited by 61 · see citing works
Goin‐Kochel, R. P., Porter, A. E., Peters, S. U., Shinawi, M. S., Sahoo, T., & Beaudet, A. L. (2009) · Autism Research · doi:10.1002/aur.70 · Cited by 59 · see citing works
Yildirim, E., Zhang, Z., Uz, T., Chen, C., Manev, R. M., & Manev, H. (2003) · Neuroscience Letters · doi:10.1016/s0304-3940(03)00490-7 · Cited by 59 · see citing works
Oxytocin in health and disease
Tom, N., & Assinder, S. J. (2009) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2009.10.008 · Cited by 53 · see citing works
Veltman, M. W. M., Thompson, R. J., Craig, E. E., Dennis, N. R., Roberts, S. E., Moore, V., Brown, J. A., & Bolton, P. (2005) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-004-1039-1 · Cited by 53 · see citing works
Polymorphic GGC repeat differentially regulates human reelin gene expression levels
Persico, A. M., Levitt, P., & Pimenta, A. F. (2006) · Journal of Neural Transmission · doi:10.1007/s00702-006-0441-6 · Cited by 52 · see citing works
Autistic disorder in Sotos syndrome: A case report
Morrow, J. D., Whitman, B. Y., & Accardo, P. (1990) · European Journal of Pediatrics · doi:10.1007/bf01957694 · Cited by 49 · see citing works
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
Bonora, E., Bacchelli, E., Levy, E. R., Blasi, F., Marlow, A. J., Monaco, A. P., & Maestrini, E. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001004 · Cited by 41 · see citing works
The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders
Abdul-Rahman, O. A., & Hudgins, L. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000195304.45116.96 · Cited by 37 · see citing works
Expression analysis and mutation detection of DLX5 and DLX6 in autism
Nakashima, N., Yamagata, T., Mori, M., Kuwajima, M., Suwa, K., & Momoi, M. Y. (2009) · Brain and Development · doi:10.1016/j.braindev.2008.12.021 · Cited by 34 · see citing works
Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations.
Mouridsen, S. E., & Hansen, M. B. (2002) · European Child & Adolescent Psychiatry · doi:10.1007/s007870200007 · Cited by 33 · see citing works
Ogilvie, C. M., Moore, J., Daker, M. G., Palferman, S., Docherty, Z., & IMGSAC (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000207)96:1 · Cited by 33 · see citing works
Temple, I. K. (2007) · KARGER eBooks · doi:10.1159/000109638 · Cited by 31 · see citing works
Cheng, L., Ge, Q., Xiao, P., Sun, B., Ke, X., Bai, Y., & Lu, Z. (2009) · International Journal of Molecular Sciences · doi:10.3390/ijms10062487 · Cited by 29 · see citing works
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
Buxbaum, J. D., Cai, G., Nygren, G., Chaste, P., Delorme, R., Goldsmith, J., Råstam, M., Silverman, J. M., Hollander, E., Gillberg, C., et al. (2007) · BMC Medical Genetics · doi:10.1186/1471-2350-8-68 · Cited by 27 · see citing works
Thomas, N. S., Browne, C. E., Oley, C., Healey, S., & Crolla, J. A. (1999) · Human Genetics · doi:10.1007/s004390051120 · Cited by 22 · see citing works
RNA-mediated pathogenesis in fragile X-associated disorders
Tan, H., He, L., & Jin, P. (2009) · Neuroscience Letters · doi:10.1016/j.neulet.2009.07.053 · Cited by 19 · see citing works
Autism and ultraconserved non-coding sequence on chromosome 7q
Richler, E., Reichert, J. G., Buxbaum, J. D., & McInnes, L. A. (2006) · Psychiatric Genetics · doi:10.1097/01.ypg.0000180683.18665.ef · Cited by 18 · see citing works
A case of autism and uniparental disomy of chromosome 1
Wassink, T. H., Losh, M. C., Frantz, R. S., Vieland, V. J., Goedken, R. J., Piven, J., & Sheffield, V. C. (2005) · Human Genetics · doi:10.1007/s00439-005-1257-4 · Cited by 13 · see citing works
Nurmi, E. L., Amin, T. M., Olson, L. M., Jacob, M. M., McCauley, J. L., Lam, A. Y., Organ, E. L., Folstein, S. E., Haines, J. L., & Sutcliffe, J. S. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001361 · Cited by 8 · see citing works
Flagged first, then by citations
3 of the 183 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Modabbernia, A., Velthorst, E., & Reichenberg, A. (2017) · Molecular Autism · doi:10.1186/s13229-017-0121-4 · Cited by 809 · see citing works
Microbial genes, brain & behaviour – epigenetic regulation of the gut–brain axis
Stilling, R. M., Dinan, T. G., & Cryan, J. F. (2014) · Genes, Brain and Behavior · doi:10.1111/gbb.12109 · Cited by 637 · see citing works
The contribution of environmental exposure to the etiology of autism spectrum disorder
Bölte, S., Girdler, S., & Marschik, P. B. (2019) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-018-2988-4 · Cited by 509 · see citing works
GABA system dysfunction in autism and related disorders: From synapse to symptoms
Coghlan, S., Horder, J., Inkster, B., Méndez, M. A., Murphy, D., & Nutt, D. (2012) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2012.07.005 · Cited by 437 · see citing works
In utero exposure to valproic acid and autism — A current review of clinical and animal studies
Roullet, F., Lai, J., & Foster, J. A. (2013) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2013.01.004 · Cited by 425 · see citing works
Epigenetic diet: impact on the epigenome and cancer
Hardy, T. M., & Tollefsbol, T. O. (2011) · Epigenomics · doi:10.2217/epi.11.71 · Cited by 413 · see citing works
Wong, C. C. Y., Meaburn, E. L., Ronald, A., Price, T. S., Jeffries, A. R., Schalkwyk, L. C., Plomin, R., & Mill, J. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.41 · Cited by 327 · see citing works
Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms
Tordjman, S., Somogyi, E., Coulon, N., Kermarrec, S., Cohen, D., Bronsard, G., Bonnot, O., Weismann-Arcache, C., Botbol, M., Lauth, B., et al. (2014) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2014.00053 · Cited by 283 · see citing works
Landrigan, P. J., Lambertini, L., & Birnbaum, L. S. (2012) · Environmental Health Perspectives · doi:10.1289/ehp.1104285 · Cited by 230 · see citing works
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy
Millan, M. J. (2013) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.11.015 · Cited by 229 · see citing works
Immunological and autoimmune considerations of Autism Spectrum Disorders
Gesundheit, B., Rosenzweig, J. P., Naor, D., Lerer, B., Zachor, D. A., Procházka, V., Melamed, M., Kristt, D. A., Steinberg, A., Shulman, C., et al. (2013) · Journal of Autoimmunity · doi:10.1016/j.jaut.2013.05.005 · Cited by 207 · see citing works
Oxidative Stress in Autism Spectrum Disorder—Current Progress of Mechanisms and Biomarkers
Liu, X., Jing, L., Zhang, H., Khan, N. U., Zhang, J., Tang, X., Cao, X., & Shen, L. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2022.813304 · Cited by 201 · see citing works
Gestational Hypoxia and Developmental Plasticity
Ducsay, C. A., Goyal, R., Pearce, W. J., Wilson, S. M., Hu, X., & Zhang, L. (2018) · Physiological Reviews · doi:10.1152/physrev.00043.2017 · Cited by 203 · see citing works
Epigenetics of Early Child Development
Murgatroyd, C., & Spengler, D. (2011) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2011.00016 · Cited by 195 · see citing works
Behavior genetics and postgenomics
Charney, E. (2012) · Behavioral and Brain Sciences · doi:10.1017/s0140525x11002226 · Cited by 207 · see citing works
Wasilewska, J., & Klukowski, M. (2015) · Pediatric Health Medicine and Therapeutics · doi:10.2147/phmt.s85717 · Cited by 184 · see citing works
Keil, K. P., & Lein, P. J. (2016) · Environmental Epigenetics · doi:10.1093/eep/dvv012 · Cited by 167 · see citing works
Association between Oral Cancer and Diet: An Update
Rodríguez-Molinero, J., Migueláñez-Medrán, B. D. C., Puente-Gutiérrez, C., Delgado-Somolinos, E., Carreras‐Presas, C. M., Fernández-Farhall, J., & López‐Sánchez, A. F. (2021) · Nutrients · doi:10.3390/nu13041299 · Cited by 167 · see citing works
Schubert, D., Martens, G. J. M., & Kolk, S. M. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.147 · Cited by 149 · see citing works
Janecka, M., Mill, J., Basson, M. A., Goriely, A., Spiers, H., Reichenberg, A., Schalkwyk, L., & Fernandes, C. (2017) · Translational Psychiatry · doi:10.1038/tp.2016.294 · Cited by 140 · see citing works
Infant siblings and the investigation of autism risk factors
Newschaffer, C. J., Croen, L., Fallin, M. D., Hertz‐Picciotto, I., Nguyen, D. V., Lee, N. L., Berry, C. A., Farzadegan, H., Hess, H. N., Landa, R. J., et al. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-7 · Cited by 136 · see citing works
The role of histone acetylation in age-associated memory impairment and Alzheimer’s disease
Stilling, R. M., & Fischer, A. (2011) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2011.04.002 · Cited by 136 · see citing works
Multidimensional Neuroanatomical Subtyping of Autism Spectrum Disorder
Hong, S., Valk, S. L., Martino, A. D., Milham, M. P., & Bernhardt, B. C. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhx229 · Cited by 131 · see citing works
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 128 · see citing works
Hite, K. C., Adams, V. H., & Hansen, J. C. (2009) · Biochemistry and Cell Biology · doi:10.1139/o08-115 · Cited by 127 · see citing works
Epigenetic effects of natural polyphenols: A focus on SIRT1‐mediated mechanisms
Owona, V. B. A., Ebrahimi, A., & Schluesener, H. J. (2013) · Molecular Nutrition & Food Research · doi:10.1002/mnfr.201300195 · Cited by 125 · see citing works
Unmet clinical needs and burden in Angelman syndrome: a review of the literature
Wheeler, A., Sacco, P., & Cabo, R. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0716-z · Cited by 124 · see citing works
The Role of Redox Signaling in Epigenetics and Cardiovascular Disease
Kim, G. H., Ryan, J. J., & Archer, S. L. (2013) · Antioxidants and Redox Signaling · doi:10.1089/ars.2012.4926 · Cited by 123 · see citing works
The Role of Heavy Metal Pollution in Neurobehavioral Disorders: a Focus on Autism
Gorini, F., Muratori, F., & Morales, M. A. (2014) · Review Journal of Autism and Developmental Disorders · doi:10.1007/s40489-014-0028-3 · Cited by 120 · see citing works
Heavy Metal in Children’s Tooth Enamel: Related to Autism and Disruptive Behaviors?
Abdullah, M. M., Ly, A. R., Goldberg, W. A., Clarke‐Stewart, K. A., Dudgeon, J., Mull, C. G., Chan, T. J., Kent, E. E., Mason, A. Z., & Ericson, J. E. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1318-6 · Cited by 118 · see citing works
Epigenetics, Autism Spectrum, and Neurodevelopmental Disorders
Rangasamy, S., D’Mello, S. R., & Narayanan, V. (2013) · Neurotherapeutics · doi:10.1007/s13311-013-0227-0 · Cited by 118 · see citing works
Gluten- and casein-free dietary intervention for autism spectrum conditions
Whiteley, P., Shattock, P., Knivsberg, A., Seim, A. R., Reichelt, K. L., Todd, L., Carr, K., & Hooper, M. (2013) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2012.00344 · Cited by 119 · see citing works
Genetic basis of autism: is there a way forward?
Eapen, V. (2011) · Current Opinion in Psychiatry · doi:10.1097/yco.0b013e328345927e · Cited by 102 · see citing works
Epigenetic Mechanisms of Pulmonary Hypertension
Kim, G. H., Ryan, J. J., Marsboom, G., & Archer, S. L. (2011) · Pulmonary Circulation · doi:10.4103/2045-8932.87300 · Cited by 104 · see citing works
Zhao, H., Wang, Q., Yan, T., Zhang, Y., Yu, H., Tu, Z., Tu, Z., Guo, X., Jiang, Y.-H., Li, X.-J., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0608-1 · Cited by 104 · see citing works
Grafodatskaya, D., Chung, B. H., Butcher, D. T., Turinsky, A. L., Goodman, S. J., Choufani, S., Chen, Y. A., Lou, Y., Zhao, C., Rajendram, R., et al. (2013) · BMC Medical Genomics · doi:10.1186/1755-8794-6-1 · Cited by 103 · see citing works
Self-citationAir pollution and autism in Denmark
Ritz, B. R., Liew, Z., Yan, Q. J., Cuia, X., Virk, J., Ketzel, M., & Raaschou‐Nielsen, O. (2018) · Environmental Epidemiology · doi:10.1097/ee9.0000000000000028 · Cited by 100 · see citing works
Paternal age and psychiatric disorders: A review
de Kluiver, H., Buizer‐Voskamp, J. E., Dolan, C. V., & Boomsma, D. I. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32508 · Cited by 98 · see citing works
Epigenomic strategies at the interface of genetic and environmental risk factors for autism
LaSalle, J. M. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.49 · Cited by 95 · see citing works
Wong, C. C. Y., Smith, R. G., Hannon, E., Ramaswami, G., Parikshak, N. N., Assary, E., Troakes, C., Poschmann, J., Schalkwyk, L. C., Sun, W., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz052 · Cited by 98 · see citing works
King, K. E., Murphy, S. K., & Hoyo, C. (2015) · Journal of Epidemiology & Community Health · doi:10.1136/jech-2014-204781 · Cited by 98 · see citing works
Cruceanu, C., Alda, M., Nagy, C., Freemantle, E., Rouleau, G. A., & Turecki, G. (2013) · International Journal of Neuropsychopharmacology · doi:10.1017/s1461145712000363 · Cited by 93 · see citing works
Genetics and Mitochondrial Abnormalities in Autism Spectrum Disorders:A Review
Dhillon, S., Hellings, J. A., & Butler, M. G. (2011) · Current Genomics · doi:10.2174/138920211796429745 · Cited by 81 · see citing works
Glasson, E. J., Buckley, N., Chen, W., Leonard, H., Epstein, A., Skoss, R., Jacoby, P. A., Blackmore, A. M., Bourke, J., & Downs, J. A. (2020) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2020.01.006 · Cited by 80 · see citing works
School-Based Autism Identification: Prevalence, Racial Disparities, and Systemic Correlates
Sullivan, A. L. (2013) · School Psychology Review · doi:10.1080/02796015.2013.12087475 · Cited by 79 · see citing works
Parental Age and Risk of Autism Spectrum Disorders in a Finnish National Birth Cohort
Lampi, K. M., Hinkka‐Yli‐Salomäki, S., Lehti, V., Helenius, H. Y. M., Gissler, M., Brown, A. S., & Sourander, A. (2013) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-013-1801-3 · Cited by 77 · see citing works
Comparative RNA editing in autistic and neurotypical cerebella
Eran, A., Li, J. B., Vatalaro, K., McCarthy, J., Rahimov, F., Collins, C., Markianos, K., Margulies, D. M., Brown, E. N., Calvo, S. E., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.118 · Cited by 70 · see citing works
Kaur, H., Singh, Y., Singh, S., & Singh, R. B. (2020) · Genome · doi:10.1139/gen-2020-0136 · Cited by 72 · see citing works
Differential DNA methylation identified in the blood and retina of AMD patients
Oliver, V. F., Jaffe, A. E., Song, J., Wang, G., Zhang, P., Branham, K. E. H., Swaroop, A., Eberhart, C. G., Zack, D. J., Qian, J. X., et al. (2015) · Epigenetics · doi:10.1080/15592294.2015.1060388 · Cited by 72 · see citing works
The Roots of Autism and ADHD Twin Study in Sweden (RATSS)
Bölte, S., Willfors, C., Berggren, S., Norberg, J., Poltrago, L., Mevel, K., Coco, C., Fransson, P., Borg, J., Sitnikov, R., et al. (2014) · Twin Research and Human Genetics · doi:10.1017/thg.2014.12 · Cited by 71 · see citing works
Bölte, S. (2014) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.12495 · Cited by 71 · see citing works
Peters, S. U., Horowitz, L. T., Barbieri‐Welge, R. L., Taylor, J. L., & Hundley, R. J. (2011) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2011.02455.x · Cited by 68 · see citing works
Tordjman, S., Cohen, D., Anderson, G. M., Botbol, M., Canitano, R., Coulon, N., & Roubertoux, P. L. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.01.014 · Cited by 66 · see citing works
Microbiome to Brain: Unravelling the Multidirectional Axes of Communication
Aidy, S. E., Stilling, R. M., Dinan, T. G., & Cryan, J. F. (2016) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-20215-0_15 · Cited by 64 · see citing works
Schaevitz, L. R., & Berger-Sweeney, J. E. (2012) · ILAR Journal · doi:10.1093/ilar.53.3-4.322 · Cited by 64 · see citing works
Epigenetics and ADHD: Toward an Integrative Approach of the Disorder Pathogenesis
Hamza, M., Halayem, S., Bourgou, S., Daoud, M., Charfi, F., & Belhadj, A. (2017) · Journal of Attention Disorders · doi:10.1177/1087054717696769 · Cited by 67 · see citing works
Meguro‐Horike, M., Yasui, D. H., Powell, W. T., Schroeder, D. I., Oshimura, M., LaSalle, J. M., & Horike, S. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr298 · Cited by 59 · see citing works
The missing diversity in human epigenomic studies
Breeze, C. E., Beck, S., Berndt, S. I., & Franceschini, N. (2022) · Nature Genetics · doi:10.1038/s41588-022-01081-4 · Cited by 55 · see citing works
Advancing parental age and autism: multifactorial pathways
Lee, B. K., & McGrath, J. J. (2015) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2014.11.005 · Cited by 57 · see citing works
DiGuiseppi, C. G., Daniels, J. L., Fallin, D. M., Rosenberg, S. A., Schieve, L. A., Thomas, K. C., Windham, G. C., Goss, C. W., Soke, G. N., Currie, D. W., et al. (2016) · Disability and Health Journal · doi:10.1016/j.dhjo.2016.01.005 · Cited by 54 · see citing works
Hoye, M. L., Calviello, L., Poff, A., Ejimogu, E., Newman, C. R., Montgomery, M. D., Ou, J., Floor, S. N., & Silver, D. L. (2022) · eLife · doi:10.7554/elife.78203 · Cited by 52 · see citing works
DNA methylation markers in the postnatal developing rat brain
Simmons, R. K., Stringfellow, S. A., Glover, M. E., Wagle, A. A., & Clinton, S. M. (2013) · Brain Research · doi:10.1016/j.brainres.2013.08.005 · Cited by 52 · see citing works
Autism spectrum disorders: Integration of the genome, transcriptome and the environment
Vijayakumar, N. T., & Judy, M. V. (2016) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2016.03.026 · Cited by 52 · see citing works
Vitamin D Receptor Gene Polymorphisms Associated with Childhood Autism
Cieślińska, A., Kostyra, E., Chwała, B., Moszyńska, M., Fiedorowicz, E., Teodorowicz, M., & Savelkoul, H. F. J. (2017) · Brain Sciences · doi:10.3390/brainsci7090115 · Cited by 51 · see citing works
Consequences of dietary methyl donor supplements: Is more always better?
Shorter, K. R., Felder, M. R., & Vrana, P. B. (2015) · Progress in Biophysics and Molecular Biology · doi:10.1016/j.pbiomolbio.2015.03.007 · Cited by 50 · see citing works
Abuhatzira, L., Shamir, A., Schones, D. E., Schäffer, A. A., & Bustin, M. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.300541 · Cited by 50 · see citing works
Systematic reconstruction of autism biology from massive genetic mutation profiles
Luo, W., Zhang, C., Jiang, Y., & Brouwer, C. (2018) · Science Advances · doi:10.1126/sciadv.1701799 · Cited by 49 · see citing works
Cieślińska, A., Sienkiewicz‐Szłapka, E., Wasilewska, J., Fiedorowicz, E., Chwała, B., Moszyńska, M., Cieśliński, T., Bukało, M., & Kostyra, E. (2015) · Peptides · doi:10.1016/j.peptides.2014.11.012 · Cited by 48 · see citing works
Balestrieri, E., Cipriani, C., Matteucci, C., Benvenuto, A., Coniglio, A., Argaw-Denboba, A., Toschi, N., Bucci, I., Miele, M. T., Grelli, S., et al. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.02244 · Cited by 48 · see citing works
Hu, V. W. (2013) · Child Development · doi:10.1111/j.1467-8624.2012.01759.x · Cited by 45 · see citing works
Schaevitz, L. R., Berger-Sweeney, J. E., & Ricceri, L. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.04.007 · Cited by 47 · see citing works
Epigenetic Factors and Autism Spectrum Disorders
Flashner, B. M., Russo, M. E., Boileau, J. E., Leong, D. W., & Gallicano, G. I. (2013) · NeuroMolecular Medicine · doi:10.1007/s12017-013-8222-5 · Cited by 47 · see citing works
Baribeau, D. A., Dupuis, A., Paton, T., Scherer, S. W., Schachar, R. J., Arnold, P. D., Szatmári, P., Nicolson, R., Georgiades, S., Crosbie, J., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-10821-0 · Cited by 45 · see citing works
Etiopathogenesis of autism spectrum disorders: Fitting the pieces of the puzzle together
Gentile, I., Zappulo, E., Militerni, R., Pascotto, A., Borgia, G., & Bravaccio, C. (2013) · Medical Hypotheses · doi:10.1016/j.mehy.2013.04.002 · Cited by 42 · see citing works
Pedersen, L., Parlar, S., Kvist, K., Whiteley, P., & Shattock, P. (2013) · Nutritional Neuroscience · doi:10.1179/1476830513y.0000000082 · Cited by 43 · see citing works
Vaccaro, T. D. S., Sorrentino, J. M., Salvador, S., Veit, T. D., Souza, D. O., & Almeida, R. F. (2018) · Behavioral Sciences · doi:10.3390/bs8080075 · Cited by 44 · see citing works
The contribution of epigenetics to understanding genetic factors in autism
Hall, L., & Kelley, E. A. (2013) · Autism · doi:10.1177/1362361313503501 · Cited by 43 · see citing works
The Many Faces of Microbiota-Gut-Brain Axis in Autism Spectrum Disorder
Gonçalves, C. L., Doifode, T., Rezende, V. L., Costa, M. A., Rhoads, J. M., & Soutullo, C. A. (2024) · Life Sciences · doi:10.1016/j.lfs.2023.122357 · Cited by 42 · see citing works
Santos, J. X., Rasga, C., Marques, A. R., Martiniano, H., Asif, M., Vilela, J. E. R., Oliveira, G., Sousa, L., Nunes, A., & Vicente, A. M. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.862315 · Cited by 45 · see citing works
Dioxins as potential risk factors for autism spectrum disorder
Guo, Z., Xie, H. Q., Zhang, P., Luo, Y., Xu, T., Liu, Y., Fu, H., Xu, S. L., Valsami‐Jones, E., Boksa, P., et al. (2018) · Environment International · doi:10.1016/j.envint.2018.10.028 · Cited by 39 · see citing works
Endogenous Retroviruses Activity as a Molecular Signature of Neurodevelopmental Disorders
Balestrieri, E., Matteucci, C., Cipriani, C., Grelli, S., Ricceri, L., Calamandrei, G., & Vallebona, P. S. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20236050 · Cited by 38 · see citing works
Role of environmental factors and epigenetics in autism spectrum disorders
Saxena, R., Babadi, M., Namvarhaghighi, H., & Roullet, F. (2020) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2020.05.002 · Cited by 40 · see citing works
DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders
Siu, M. T., Goodman, S. J., Yellan, I., Butcher, D. T., Jangjoo, M., Grafodatskaya, D., Rajendram, R., Lou, Y., Zhang, R., Zhao, C., et al. (2021) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04792-x · Cited by 36 · see citing works
Self-citationMedical history of discordant twins and environmental etiologies of autism
Willfors, C., Carlsson, T., Anderlid, B.-M., Nordgren, A., Kostrzewa, E., Berggren, S., Ronald, A., Kuja-Halkola, R., Tammimies, K., & Bölte, S. (2017) · Translational Psychiatry · doi:10.1038/tp.2016.269 · Cited by 35 · see citing works
Robert, C., Pasquier, L., Cohen, D., Fradin, M., Canitano, R., Damaj, L., Odent, S., & Tordjman, S. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18030618 · Cited by 36 · see citing works
Shimada, T., Kitamoto, A., Todokoro, A., Ishii‐Takahashi, A., Kuwabara, H., Kim, S.-Y., Watanabe, K., Minowa, I., 染谷利一, Ohtsu, H., et al. (2011) · Research in Autism · doi:10.1016/j.rasd.2011.07.010 · Cited by 33 · see citing works
Animal Models of Autism: An Epigenetic and Environmental Viewpoint
Iwata, K., Matsuzaki, H., Takei, N., Manabe, T., & Mori, N. (2010) · Journal of Central Nervous System Disease · doi:10.4137/jcnsd.s6188 · Cited by 33 · see citing works
Guo, B., Ding, S., & Li, H. (2020) · Acta Psychiatrica Scandinavica · doi:10.1111/acps.13170 · Cited by 33 · see citing works
Implication de l’épigénétique dans les troubles du spectre autistique : revue de la littérature
Hamza, M., Halayem, S., M’rad, R., Bourgou, S., Charfi, F., & Belhadj, A. (2016) · L Encéphale · doi:10.1016/j.encep.2016.07.007 · Cited by 32 · see citing works
The neurobehavioral and molecular phenotype of Angelman Syndrome
Wink, L. K., Fitzpatrick, S. E., Shaffer, R. C., Melnyk, S., Begtrup, A. H., Fox, E., Schaefer, T. L., Mathieu-Frasier, L., Ray, B., Lahiri, D. K., et al. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37254 · Cited by 33 · see citing works
Genetics of Autism Spectrum Disorders
Rutter, M., & Thapar, A. (2014) · Handbook of Autism and Pervasive Developmental Disorders, Fourth Edition · doi:10.1002/9781118911389.hautc17 · Cited by 31 · see citing works
Anderson, G., & Maes, M. H. J. (2014) · Current Neuropharmacology · doi:10.2174/1570159x11666131120223757 · Cited by 30 · see citing works
Working up autism: The practical role of medical genetics
Gurrieri, F. (2012) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31326 · Cited by 28 · see citing works
Liang, S., Li, Z., Wang, Y., Li, X., Yang, X., Zhan, X., Huang, Y., Gao, Z., Zhang, M., Sun, C., et al. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00712 · Cited by 28 · see citing works
The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders
Şener, E. F., Uytun, M. Ç., Bayram, K. K., Zararsız, G., Öztop, D. B., Canatan, H., & Özkul, Y. (2016) · Metabolic Brain Disease · doi:10.1007/s11011-016-9795-0 · Cited by 28 · see citing works
Lyall, K., Baker, A., Hertz‐Picciotto, I., & Walker, C. K. (2013) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph10083715 · Cited by 27 · see citing works
Faja, S., & Dawson, G. (2017) · Wiley eBooks · doi:10.1002/9781394258932.ch22 · Cited by 28 · see citing works
Mehra, S., Ahsan, A. U., Seth, E., & Chopra, M. (2022) · Journal of Molecular Neuroscience · doi:10.1007/s12031-022-02033-7 · Cited by 26 · see citing works
Bakare, M. O., Münir, K., & Kinney, D. K. (2011) · Hypothesis · doi:10.5779/hypothesis.v9i1.200 · Cited by 26 · see citing works
Abdolmaleky, H. M., Nohesara, S., Zhou, J.-R., & Thiagalingam, S. (2025) · Epigenomics · doi:10.1080/17501911.2025.2464529 · Cited by 26 · see citing works
- Authors
- Grafodatskaya, D., Chung, B., Szatmari, P., & Weksberg, R.
- Affiliations
- Hospital for Sick Children (CA)
- Corresponding author
- Weksberg, Rosanna
- Venue
- Journal of the American Academy of Child & Adolescent Psychiatry
- Publisher
- Elsevier BV
- Published
- 2010-08
- Volume
- 49
- Issue
- 8
- Pages
- 794-809
- ISSN
- 0890-8567 (ISSN-L)
- OpenAlex
- W1986743339
- Cited by
- 235
- References
- 183
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 11 · 2023: 10 · 2022: 9 · 2021: 14 · 2020: 11 · 2019: 9 · 2018: 8 · 2017: 16 · 2016: 16 · 2015: 17 · 2014: 18 · 2013: 27 · 2012: 22
- FWCI
- 1.84
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of the American Academy of Child & Adolescent Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Funders
- Canadian Institutes of Health Research
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- autism spectrum disorder, epigenetics, epigenetic dysregulation, ASD etiology, brain development, Rett syndrome, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, CHARGE syndrome, environmental factors, gene expression regulation
- MeSH terms
- Adolescent, Child, Child Development Disorders, Pervasive, Chromosomes, Human, Pair 15, Fragile X Syndrome, Humans, Prader-Willi Syndrome, Risk Factors, Social Environment, Turner Syndrome, Rett Syndrome, Comorbidity, Angelman Syndrome, Genetic Predisposition to Disease, Epigenesis, Genetic, Genetic Association Studies, Megalencephaly, CHARGE Syndrome
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
