Genetics of austim: complex aetiology for a heterogeneous disorder
Abstract
Since autism was first recognized as a disorder in 1943, speculation about its aetiology has ranged from biological to psychological and back again. After twin studies during the 1970s and 1980s yielded unequivocal evidence for a genetic component, aetiological research in autism began to focus primarily on uncovering the genetic mechanisms involved. The identification of chromosomal abnormalities and Mendelian syndromes among individuals with autism, in conjunction with data from genome screens and candidate-gene studies, has helped to refine the view of the complex genetics that underlies autism spectrum conditions.
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?
Cytogenetic rearrangements have been reported in about 6-7% of autism spectrum disorder cases.
“Cytogenetic rearrangements were reported in ~6–7% of autism spectrum disorder (ASD) cases (Folstein and Rosen-Sheidley, 2001).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Folstein and Rosen-Sheidley, 2001
ASD has been noted as a comorbid feature of >100 single gene, Mendelian medical genetic syndromes, although the penetrance and confidence of the clinical associations are variable.
“In addition, ASD has been noted as a comorbid feature of >100 single gene, Mendelian medical genetic syndromes, 79 although the penetrance and confidence of the clinical associations are variable.”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [79]
Cites
1 retracted
Wakefield, A., Murch, S., Anthony, A., Linnell, J., Casson, D., Malik, M., Berelowitz, M., Dhillon, A., Thomson, M., Harvey, P., et al. (1998) · The Lancet · doi:10.1016/s0140-6736(97)11096-0 · Cited by 3,006 · see citing works
Retracted(1943) · The Nervous child · Cited by 8,870 · see citing works
Wnt signaling: a common theme in animal development
Cadigan, K. M., & Nusse, R. (1997) · Genes & Development · doi:10.1101/gad.11.24.3286 · Cited by 2,567 · see citing works
Haddow, J. E., Palomaki, G. E., Allan, W. C., Williams, J. R., Knight, G. J., Gagnon, J., O'Heir, C. E., Mitchell, M. L., Hermos, R. J., Waisbren, S. E., et al. (1999) · New England Journal of Medicine · doi:10.1056/nejm199908193410801 · Cited by 2,558 · see citing works
Autism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461 · see citing works
Handbook of Autism and Pervasive Developmental Disorders
(2005) · Wiley eBooks · doi:10.1002/9780470939352 · Cited by 2,252 · see citing works
Die „Autistischen Psychopathen” im Kindesalter
Asperger, H. (1944) · Archiv für Psychiatrie und Nervenkrankheiten · doi:10.1007/bf01837709 · Cited by 2,163 · see citing works
A forkhead-domain gene is mutated in a severe speech and language disorder
Lai, C. S. L., Fisher, S. E., Hurst, J. A., Vargha‐Khadem, F., & Monaco, A. P. (2001) · Nature · doi:10.1038/35097076 · Cited by 2,053 · see citing works
INFANTILE AUTISM: A GENETIC STUDY OF 21 TWIN PAIRS
Folstein, S., & Rutter, M. (1977) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1977.tb00443.x · Cited by 1,361 · see citing works
Self-citationThe epidemiology of autism: a review
FOMBONNE, E. (1999) · Psychological Medicine · doi:10.1017/s0033291799008508 · Cited by 981 · see citing works
Park‐Wyllie, L. Y., Mazzotta, P., Pastuszak, A. L., Moretti, M. E., Béïque, L. C., Hunnisett, L., Friesen, M. H., Jacobson, S., Kasapinovic, S., Chang, D., et al. (2000) · Teratology · doi:10.1002/1096-9926(200012)62:6 · Cited by 939 · see citing works
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
Hong, S. E., Shugart, Y. Y., Huang, D. T.-C., Shahwan, S. A., Grant, P. E., Hourihane, J. O., Martin, N. D. T., & Walsh, C. A. (2000) · Nature Genetics · doi:10.1038/79246 · Cited by 878 · see citing works
A Twin Study of Autism in Denmark, Finland, Iceland, Norway and Sweden
Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I. C., Jakobsson, G., & Bohman, M. (1989) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1989.tb00254.x · Cited by 780 · see citing works
Autism and measles, mumps, and rubella vaccine: no epidemiological evidence for a causal association
Taylor, B., Miller, E., Farrington, C., Petropoulos, M.-C., Favot-Mayaud, I., Li, J., & Waight, P. A. (1999) · The Lancet · doi:10.1016/s0140-6736(99)01239-8 · Cited by 753 · 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
A Genomic Screen of Autism: Evidence for a Multilocus Etiology
Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., McCague, P., Dimiceli, S., Pitts, T., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302497 · Cited by 684 · see citing works
(1997) · PubMed · Cited by 645 · see citing works
Handbook of Autism and Pervasive Developmental Disorders
Wiznitzer, M. (1988) · Neurology · doi:10.1212/wnl.38.10.1663-d · Cited by 562 · see citing works
A neurobiological basis of social attachment.
(1997) · American Journal of Psychiatry · doi:10.1176/ajp.154.6.726 · Cited by 553 · see citing works
Bailey, A. J., Amaia Hervas, G., Matthews, N., Palferman, S., Wallace, S., Aubin, A., Michelotti, J., Wainhouse, C., Papanikolaou, Κ., Rutter, M. L., et al. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.571 · Cited by 537 · see citing works
Extreme Discordant Sib Pairs for Mapping Quantitative Trait Loci in Humans
RISCH, N. J., & Heping Zhang, D. (1995) · Science · doi:10.1126/science.7777857 · Cited by 525 · see citing works
CONCEPTS OF AUTISM: A REVIEW OF RESEARCH*
Rutter, M. L. (1968) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1968.tb02204.x · Cited by 491 · see citing works
A Five to Fifteen Year Follow-Up Study of Infantile Psychosis
Rutter, M. L., Greenfeld, D., & Lockyer, L. (1967) · The British Journal of Psychiatry · doi:10.1192/bjp.113.504.1183 · Cited by 477 · see citing works
BETTELHEI, M., & Gelfand, D. M. (1967) · The Journal of Nervous and Mental Disease · doi:10.1097/00005053-196704000-00012 · Cited by 477 · see citing works
Genome-Wide Scan for Autism Susceptibility Genes
Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Rastam, M., Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.805 · Cited by 471 · see citing works
Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1
Lijam, N., Paylor, R., McDonald, M. P., Crawley, J. N., Deng, C.-X., Herrup, K., Stevens, K. E., Maccaferri, G., McBain, C. J., Sussman, D. J., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80354-2 · Cited by 470 · see citing works
Biology of the Autistic Syndromes
Coleman, M., & Cillberg, C. (1994) · Pediatric Physical Therapy · doi:10.1097/00001577-199400610-00026 · Cited by 464 · see citing works
Autism in children with congenital rubella
Chess, S. (1971) · Journal of Autism and Childhood Schizophrenia · doi:10.1007/bf01537741 · Cited by 457 · see citing works
AUTISM IN THALIDOMIDE EMBRYOPATHY: A POPULATION STUDY
Strömland, K., Nordin, V., Miller, M. T., Åkerström, B., & Gillberg, C. (1994) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1994.tb11856.x · Cited by 453 · see citing works
A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p
(2001) · The American Journal of Human Genetics · doi:10.1086/323264 · Cited by 453 · see citing works
Macrocephaly in children and adults with autism
LAINHART, J. E., PIVEN, J., WZOREK, M., LANDA, R., SANTANGELO, S. L., COON, H., & FOLSTEIN, S. E. (1997) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199702000-00019 · Cited by 439 · see citing works
Self-citation(1964) · Andalas University Repository (Andalas University) · Cited by 436 · see citing works
Familial Clustering of Autoimmune Disorders and Evaluation of Medical Risk Factors in Autism
Comi, A., Zimmerman, A., Frye, V. H., Law, P., & Peeden, J. (1999) · Journal of Child Neurology · doi:10.1177/088307389901400608 · Cited by 427 · see citing works
Evidence of linkage between the serotonin transporter and autistic disorder
Cook, E., Yeung-Courchesne, R., Lord, C., Cox, N. J., Yan, S., Lincoln, A. J., Haas, R., Courchesne, E., & LEVENTHAL, B. L. (1997) · Molecular Psychiatry · doi:10.1038/sj.mp.4000266 · Cited by 426 · see citing works
A Five- to Fifteen-Year Follow-up Study of Infantile Psychosis
Lockyer, L., & Rutter, M. L. (1969) · The British Journal of Psychiatry · doi:10.1192/bjp.115.525.865 · Cited by 407 · see citing works
Altered serotonin synthesis in the dentatothalamocortical pathway in autistic boys
Chugani, D. C., Muzik, O., Rothermel, R., Behen, M. E., Chakraborty, P. K., Mangner, T. J., Silva, E. A. D., & Chugani, H. T. (1997) · Annals of Neurology · doi:10.1002/ana.410420420 · Cited by 399 · see citing works
The serotonin system in autism
Cook, E. H., & LEVENTHAL, B. L. (1996) · Current Opinion in Pediatrics · doi:10.1097/00008480-199608000-00008 · Cited by 394 · see citing works
Pickles, A. R., Bolton, P., Macdonald, H., Bailey, A., Couteur, A. S. L., Sim, C. H., & Rutter, M. L. (1995) · Europe PMC (PubMed Central) · Cited by 388 · see citing works
Kaye, J. A., Melero-Montes, M. D. M., & Jick, H. (2001) · BMJ · doi:10.1136/bmj.322.7284.460 · Cited by 388 · see citing works
Follow-up report on autism in congenital rubella
Chess, S. (1977) · Journal of Autism and Childhood Schizophrenia · doi:10.1007/bf01531116 · Cited by 378 · see citing works
Autism and maternally derived aberrations of chromosome 15q
Schroer, R. J., Phelan, M. C., Michaelis, R. C., Crawford, E. C., Skinner, S. A., Cuccaro, M. L., Simensen, R. J., Bishop, J., Skinner, C. D., Fender, D., et al. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980401)76:4 · Cited by 375 · see citing works
Autism: not an extremely rare disorder
Gillberg, C., & Wing, L. (1999) · Acta Psychiatrica Scandinavica · doi:10.1111/j.1600-0447.1999.tb00984.x · Cited by 374 · 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
An extended Family with a Dominantly Inherited Speech Disorder
Hurst, J. A., Baraitser, M., Auger, E., Graham, F., & Norell, S. (1990) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1990.tb16948.x · Cited by 352 · see citing works
(1999) · The MIT Press eBooks · doi:10.7551/mitpress/4945.001.0001 · Cited by 346 · see citing works
Fetal Valproate Syndrome: Clinical and Neuro‐developmental Features in Two Sibling Pairs
Christianson, A. L., Chester, N., & Kromberg, J. G. R. (1994) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1994.tb11858.x · Cited by 340 · 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
Linkage and association of the glutamate receptor 6 gene with autism
Jamain, S., Betancur, C., Quach, H., Philippe, A., Fellous, M., Giros, B., Gillberg, C., Leboyer, M., & Bourgeron, T. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4000979 · Cited by 332 · see citing works
Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic Heterogeneity
Buxbaum, J. D., Silverman, J. M., Smith, C. J., Kilifarski, M., Reichert, J. G., Hollander, E., LAWLOR, B. A., Fitzgerald, M., Greenberg, D. A., & Davis, K. L. (2001) · The American Journal of Human Genetics · doi:10.1086/320588 · Cited by 321 · see citing works
A genomewide screen for autism susceptibility loci
Liu, J., Nyholt, D. R., Magnussen, P., Parano, E., Pavone, P., Geschwind, D., Lord, C., Iversen, P., Hoh, J., Autism Genetic Resource Exchange Consortium, T., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/321980 · Cited by 309 · see citing works
Bettelheim, B. (1967) · Cited by 306 · see citing works
Variable Expression of the Autism Broader Phenotype: Findings from Extended Pedigrees
Pickles, A. R., Starr, E., Kazak, S., Bolton, P., Papanikolaou, Κ., Bailey, A. J., Goodman, R., & Rutter, M. L. (2000) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00634 · Cited by 289 · see citing works
Skuse, D. H. (2000) · Pediatric Research · doi:10.1203/00006450-200001000-00006 · Cited by 285 · see citing works
Molecular genetics of Alzheimer’s disease
George‐Hyslop, P. S. (2000) · Biological Psychiatry · doi:10.1016/s0006-3223(99)00301-7 · Cited by 276 · see citing works
Antibodies to Myelin Basic Protein in Children with Autistic Behavior
Singh, V. K., Warren, R. P., Odell, J. D., Warren, W. L., & Cole, P. (1993) · Brain, Behavior, and Immunity · doi:10.1006/brbi.1993.1010 · Cited by 274 · see citing works
The UCLA-University of Utah epidemiologic survey of autism: prevalence
(1989) · American Journal of Psychiatry · doi:10.1176/ajp.146.2.194 · Cited by 273 · see citing works
Serotonin transporter (5-HTT) gene variants associated with autism?
Klauck, S. M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.13.2233 · Cited by 261 · see citing works
Course of Behavioral Change in Autism: A Retrospective Study of High-IQ Adolescents and Adults
Piven, J., HARPER, J., Palmer, P. J., & Arndt, S. V. (1996) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199604000-00019 · Cited by 250 · see citing works
Association of tuberous sclerosis of temporal lobes with autism and atypical autism
Bolton, P., & Griffiths, P. D. (1997) · The Lancet · doi:10.1016/s0140-6736(97)80012-8 · Cited by 250 · see citing works
Genomic screen and follow‐up analysis for autistic disorder
Shao, Y., Wolpert, C. M., Raiford, K. L., Menold, M. M., Donnelly, S. L., Ravan, S. A., Bass, M. P., McClain, C., von Wendt, L., Vance, J. M., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10153 · Cited by 248 · see citing works
An Exploration of Right-Hemisphere Contributions to the Pragmatic Impairments of Autism
Ozonoff, S. J., & Miller, J. N. (1996) · Brain and Language · doi:10.1006/brln.1996.0022 · Cited by 247 · see citing works
Chromosomal disorders and autism
Gillberg, C. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026004505764 · Cited by 237 · see citing works
Serum autoantibodies to brain in Landau-Kleffner variant, autism, and other neurologic disorders
Connolly, A. M., Chez, M. G., Pestronk, A., Arnold, S. T., Mehta, S., & Deuel, R. K. (1999) · The Journal of Pediatrics · doi:10.1016/s0022-3476(99)70248-9 · Cited by 236 · see citing works
Evidence supporting WNT2 as an autism susceptibility gene
Wassink, T. H., Piven, J., Vieland, V. J., Huang, J., Swiderski, R. E., Pietila, J., Braun, T. A., Beck, G. E., Folstein, S. E., Haines, J. L., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1401 · Cited by 206 · see citing works
Self-citationPsychiatric disorders in the parents of autistic individuals
PIVEN, J., CHASE, G. A., LANDA, R., WZOREK, M., GAYLE, J., CLOUD, D., & FOLSTEIN, S. (1991) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199105000-00019 · Cited by 206 · see citing works
Self-citationLai, C. S. L., Fisher, S. E., Hurst, J. A., Levy, E. R., Hodgson, S. V., Fox, M., Jeremiah, S. J., Povey, S., Jamison, D. C., Green, E. D., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/303011 · Cited by 205 · see citing works
A Family History Study of Neuropsychiatric Disorders in the Adult Siblings of Autistic Individuals
Piven, J., GAYLE, J., Chase, G. A., FINK, B., Landa, R. J., Wzorek, M., & Folstein, S. E. (1990) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199003000-00004 · Cited by 204 · see citing works
Self-citationA Family Study of Autism: Cognitive Patterns and Levels in Parents and Siblings
Fombonne, E. J., Bolton, P., Prior, J., Jordan, H., & Rutter, M. L. (1997) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1997.tb01694.x · Cited by 200 · see citing works
Role of the serotonin transporter gene in the behavioral expression of autism
Tordjman, S., Gutknecht, L., Carlier, M., Spitz, E., Antoine, C., Slama, F., Carsalade, V, Cohen, D. J., Ferrari, P., Roubertoux, P. L., et al. (2001) · Molecular Psychiatry · doi:10.1038/sj.mp.4000873 · Cited by 196 · see citing works
Patja, A., Davidkin, I., Kurki, T., KALLIO, M. J. T., Valle, M., & Peltola, H. (2000) · The Pediatric Infectious Disease Journal · doi:10.1097/00006454-200012000-00002 · Cited by 193 · see citing works
Genetic Studies of Autistic Disorder and Chromosome 7
Ashley‐Koch, A. E., Wolpert, C. M., Menold, M. M., Zaeem, L., Basu, S., Donnelly, S. L., Ravan, S. A., Powell, C. M., Qumsiyeh, M. Β., Aylsworth, A. S., et al. (1999) · Genomics · doi:10.1006/geno.1999.5968 · Cited by 192 · see citing works
The Empty Fortress: Infantile Autism and the Birth of the Self.
Work, H. H. (1967) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1967.02090230151037 · Cited by 184 · see citing works
A male with fetal valproate syndrome and autism
Williams, P. G., & Hersh, J. H. (1997) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1997.tb07500.x · Cited by 182 · see citing works
Bailey, A. J., Luthert, P. J., Bolton, P., Couteur, A. L., Rutter, M. L., & Harding, B. N. (1993) · The Lancet · doi:10.1016/0140-6736(93)91065-t · Cited by 181 · see citing works
Mapping quantitative trait loci with extreme discordant sib pairs: sampling considerations.
RISCH, N. J., & Zhang, H. (1996) · PubMed · Cited by 177 · see citing works
Autism: Familial aggregation and genetic implications
Folstein, S. E., & Rutter, M. L. (1988) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02211815 · Cited by 176 · see citing works
Self-citationEvidence for an association with the serotonin transporter promoter region polymorphism and autism
Yirmiya, N., Pilowsky, T., Nemanov, L., Arbelle, S., Feinsilver, T., Fried, I., & Ebstein, R. P. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1365 · Cited by 168 · see citing works
The biology of the autistic syndromes
Naruse, H. (1993) · Brain and Development · doi:10.1016/0387-7604(93)90090-u · Cited by 161 · see citing works
Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families
Nurmi, E. L., Bradford, Y., Chen, Y.-H., Hall, J. L., Arnone, B., Gardiner, M., Hutcheson, H. B., Gilbert, J. R., Pericak‐Vance, M. A., Copeland‐Yates, S. A., et al. (2001) · Genomics · doi:10.1006/geno.2001.6617 · Cited by 159 · see citing works
Self-citationPredictors of Cognitive Test Patterns in Autism Families
Folstein, S. E., Santangelo, S. L., Gilman, S. E., Piven, J., Landa, R. J., Lainhart, J. E., Hein, J., & Wzorek, M. (1999) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00528 · Cited by 158 · see citing works
Self-citationHalsey, N. A., Hyman, S. L., & Panel, T. C. W. (2001) · PEDIATRICS · doi:10.1542/peds.107.5.e84 · Cited by 154 · see citing works
Duplication of the 15q11‐13 Region in a Patient with Autism, Epilepsy and Ataxia
Bundey, S., Hardy, C., Vickers, S., Kilpatrick, M. W., & Corbett, J. A. (1994) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1994.tb11916.x · Cited by 151 · see citing works
Aronson, M., Hagberg, B. S., & Gillberg, C. (1997) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1997.tb07493.x · Cited by 147 · see citing works
Autism in Fetal Alcohol Syndrome: A Report of Six Cases
Nanson, J. L. (1992) · Alcoholism Clinical and Experimental Research · doi:10.1111/j.1530-0277.1992.tb01417.x · Cited by 147 · see citing works
Early speech and language development in children with velocardiofacial syndrome
Scherer, N. J., DʼAntonio, L. L., & Kalbfleisch, J. H. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991215)88:6 · Cited by 145 · see citing works
Congenital rubella encephalitis
Desmond, M. M., Wilson, G. S., Melnick, J. L., Singer, D. B., Zion, T. E., Rudolph, A. J., Pineda, R. G., Ziai, M.-H., & Blattner, R. J. (1967) · The Journal of Pediatrics · doi:10.1016/s0022-3476(67)80291-9 · Cited by 145 · see citing works
Abnormal immune response to brain tissue antigen in the syndrome of autism
Weizman, A., Weizman, R., Szekely, G. A., Wijsenbeek, H., & Livni, E. (1982) · American Journal of Psychiatry · doi:10.1176/ajp.139.11.1462 · Cited by 136 · see citing works
Wang, Z., Young, L. J., Vries, G. J. D., & Insel, T. R. (1999) · Progress in brain research · doi:10.1016/s0079-6123(08)61589-7 · Cited by 132 · see citing works
Psychoeducational Outcome in Children With Early-Treated Congenital Hypothyroidism
Rovet, J. F., & Ehrlich, R. (2000) · Pediatrics · doi:10.1542/peds.105.3.515 · Cited by 129 · see citing works
Stoppage rules and genetic studies of autism
Jones, M. B., & Szatmári, P. (1988) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02211816 · Cited by 129 · see citing works
Vincent, J. B., Herbrick, J.-A., Gurling, H., Bolton, P., Roberts, W., & Scherer, S. W. (2000) · The American Journal of Human Genetics · doi:10.1086/303005 · Cited by 124 · see citing works
Lauritsen, M. B., & Ewald, H. (2001) · Acta Psychiatrica Scandinavica · doi:10.1034/j.1600-0447.2001.00086.x · Cited by 121 · see citing works
Childhood psychosis and neurofibromatosis—more than a coincidence?
Gillberg, C., & Forsell, C. (1984) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02408551 · Cited by 107 · see citing works
Brief report: Duplication of chromosome 15q11-13 in two individuals with autistic disorder
Baker, P., Piven, J., Schwartz, S., & Patil, S. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172133 · Cited by 106 · see citing works
Autism and congenital cytomegalovirus
Stubbs, E. G., Ash, E., & Williams, C. P. S. (1984) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02409660 · Cited by 104 · see citing works
Autistic regression and disintegrative disorder: How important the role of epilepsy?
Rapin, I. (1995) · Seminars in Pediatric Neurology · doi:10.1016/s1071-9091(95)80007-7 · Cited by 104 · see citing works
Autism and the Cerebellum: Evidence from Tuberous Sclerosis
Weber, A. M., Egelhoff, J. C., McKellop, J. M., & Franz, D. N. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005679108529 · Cited by 100 · see citing works
Case Study: Autism Associated with Marker Chromosome
Gillberg, C., Steffenburg, S., Wahlström, J., Gillberg, I. C., SJÖSTEDT, A., Martinsson, T., LIEDGREN, S., & Eeg‐Olofsson, O. (1991) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199105000-00022 · Cited by 100 · see citing works
Linkage of a composite inhibitory phenotype to a chromosome 22q locus in eight Utah families
Myles‐Worsley, M., Coon, H. H., McDowell, J. E., Brenner, C. A., Hoff, M., Lind, B., Bennett, P., Freedman, R., Clementz, B. A., & Byerley, W. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991015)88:5 · Cited by 98 · see citing works
Genetic studies in autistic disorder and chromosome 15
Bass, M. P., Menold, M. M., Wolpert, C. M., Donnelly, S. L., Ravan, S. A., Hauser, E. R., Maddox, L. O., Vance, J. M., Abramson, R. K., Wright, H. H., et al. (2000) · Neurogenetics · doi:10.1007/s100489900081 · Cited by 97 · see citing works
Chromosome 7q: Where Autism Meets Language Disorder?
Folstein, S. E., & Mankoski, R. E. (2000) · The American Journal of Human Genetics · doi:10.1086/303034 · Cited by 95 · see citing works
Self-citationPrenatal and Perinatal Factors in the Etiology of Autism
Nelson, K. B. (1991) · PEDIATRICS · doi:10.1542/peds.87.5.761 · Cited by 94 · see citing works
The fathers of autistic children.
Eisenberg, L. (1957) · American Journal of Orthopsychiatry · doi:10.1111/j.1939-0025.1957.tb05539.x · Cited by 94 · see citing works
Detection of Phenylketonuria in Autistic and Psychotic Children
Lowe, T. L. (1980) · JAMA · doi:10.1001/jama.1980.03300280024022 · Cited by 91 · see citing works
Schizophrenia and smoking: Evidence for a common neurobiological basis?
Stassen, H. H., Bridler, R., H�gele, S., Hergersberg, M., Mehmann, B., Schinzel, A., Weisbrod, M., & Scharfetter, C. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000403)96:2 · Cited by 89 · see citing works
Robinson, P. D., Schutz, C. K., Macciardi, F. M., White, B. N., & Holden, J. J. A. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1187 · Cited by 88 · see citing works
5-HTTLPR variants not associated with autistic spectrum disorders
Zhong, N., Ye, L., Ju, W., Tsiouris, J. A., Cohen, I., & Brown, W. T. (1999) · Neurogenetics · doi:10.1007/s100480050064 · Cited by 87 · see citing works
Genetic Counseling in Autism and Pervasive Developmental Disorders
Simonoff, E. A. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026060623511 · Cited by 83 · see citing works
Chromosomal Abnormalities in a Series of Children with Autistic Disorder
Konstantareas, M. M., & Homatidis, S. (1999) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1022155201662 · Cited by 81 · see citing works
Autistic symptoms in a child with congenital cytomegaloviras infection
Stubbs, E. G. (1978) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01550276 · Cited by 75 · see citing works
Hypothyroidism and Autism Spectrum Disorders
Gillberg, I. C., Gillberg, C., & Kopp, S. (1992) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1992.tb00889.x · Cited by 71 · see citing works
Outcomes of Genetic Evaluation in Children with Pervasive Developmental Disorder
CHUDLEY, A. E., GUTIERREZ, E., JOCELYN, L. J., & CHODIRKER, B. N. (1998) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-199810000-00001 · Cited by 68 · see citing works
Hallmayer, J. F. (1996) · Archives of General Psychiatry · doi:10.1001/archpsyc.1996.01830110021003 · Cited by 64 · see citing works
Bhatia, M. S., Dhar, N. K., Singhal, P. K., Nigam, V. R., Malik, S., & Mullick, D. N. (1990) · Clinical Pediatrics · doi:10.1177/000992289002900603 · Cited by 60 · see citing works
Psychometric assessment of first-degree relatives of 62 autistic probands in Utah
Freeman, B. J., RITVO, E. R., MASON-BROTHERS, A., Pingree, C., Yokota, A., Jenson, W. R., McMahon, W. M., Petersen, P. B., Mo, A., & Schroth, P. (1989) · American Journal of Psychiatry · doi:10.1176/ajp.146.3.361 · Cited by 57 · see citing works
Maternal origin of inv dup(15) chromosomes in infantile autism
Martinsson, T., Johannesson, T., Vujic, M., Sj�stedt, A., Steffenburg, S., Gillberg, C., & Wahlstr�m, J. (1996) · European Child & Adolescent Psychiatry · doi:10.1007/bf00538845 · Cited by 54 · see citing works
Brief report: Magnetic resonance imaging of high level autism
Gaffney, G., & Tsai, L. Y. (1987) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01487072 · Cited by 51 · see citing works
Kerbeshian, J., Burd, L., Randall, T., et al. (1990) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.1990.tb01530.x · Cited by 47 · see citing works
A case of autism associated with partial tetrasomy 15
Hotopf, M. H., & Bolton, P. (1995) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02178166 · Cited by 42 · see citing works
Families of Autistic and Dysphasic Children
Cantwell, D. P. (1979) · Archives of General Psychiatry · doi:10.1001/archpsyc.1979.01780060072008 · Cited by 40 · see citing works
Gordon, C. T., Krasnewich, D. M., White, B. J., et al. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172134 · Cited by 36 · 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
Neurofibromatosis in infantile autism and other types of childhood psychoses.
Mouridsen, S. E., Andersen, L. B., Sa, S., Rich, B., & Isager, T. (1992) · PubMed · Cited by 33 · see citing works
Biological and Psychological Factors in Cardiovascular Disease
Freeman, A. M. (1989) · American Journal of Psychiatry · doi:10.1176/ajp.146.9.1229 · Cited by 29 · see citing works
Brief report: Screening children with autism for fragile-X syndrome and phenylketonuria
Pueschel, S. M., Herman, R. M., & Groden, G. (1985) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01531503 · Cited by 27 · see citing works
Mowery‐Rushton, P., Driscoll, D. J., Nicholls, R. D., Locker, J. D., & Surti, U. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960111)61:2 · Cited by 24 · see citing works
Fischer, G., & Wagner, B. (1983) · PubMed · Cited by 19 · see citing works
De novo partial duplication of chromosome 7p in a male with autistic disorder
Wolpert, C. M., Donnelly, S. L., Cuccaro, M. L., Hedges, D. J., Poole, C. P., Wright, H. H., Gilbert, J. R., & Pericak‐Vance, M. A. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1258 · Cited by 18 · see citing works
Folstein, S. E. (1999) · International Review of Psychiatry · doi:10.1080/09540269974168 · Cited by 16 · see citing works
Self-citation[Infantile autism among children in the county of Nordland. Prevalence and etiology].
Ga, H. (1993) · PubMed · Cited by 15 · see citing works
Cytogenetic survey for autistic fragile X carriers in a mental retardation center.
Cantú, E. S., Stone, J. W., Wing, A. A., LANGEE, H., & Williams, C. A. (1990) · PubMed · Cited by 12 · see citing works
Miles (2000) · doi:10.1002/(sici)1096-8628(20000410)91:4
Price (1999) · doi:10.1002/1531-8249(199903)45:3
Jonnal (2000) · doi:10.1002/1096-8628(20001204)96:6
Burger (1998) · doi:10.1002/(sici)1098-2779(1998)4:2
Donnelly, S. L., Wolpert, C. M., Menold, M. M., Bass, M. P., Gilbert, J. R., Cuccaro, M. L., Delong, G. R., & Pericak-Vance, M. A. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20000612)96:3
Flagged first, then by citations
Cited by
Sorted by citations
Model of autism: increased ratio of excitation/inhibition in key neural systems
Rubenstein, J. L. R., & Merzenich, M. M. (2003) · Genes, Brain and Behavior · doi:10.1034/j.1601-183x.2003.00037.x · Cited by 2,768 · see citing works
Neuroglial activation and neuroinflammation in the brain of patients with autism
Vargas, D. L., Nascimbene, C., Krishnan, C., Zimmerman, A. W., & Pardo, C. A. (2005) · Annals of Neurology · doi:10.1002/ana.20315 · Cited by 2,149 · see citing works
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851 · see citing works
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602 · see citing works
Moy, S. S., Nadler, J. J., Perez, A., Barbaro, R. P., Johns, J. M., Magnuson, T. R., Piven, J., & Crawley, J. N. (2004) · Genes, Brain and Behavior · doi:10.1111/j.1601-1848.2004.00076.x · Cited by 1,545 · see citing works
Autistic Traits in the General Population: A Twin Study
Constantino, J. N., & Todd, R. D. (2003) · Archives of General Psychiatry · doi:10.1001/archpsyc.60.5.524 · Cited by 1,317 · 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
Genetic architectures of psychiatric disorders: the emerging picture and its implications
Sullivan, P. F., Daly, M. J., & O'Donovan, M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3240 · Cited by 1,177 · see citing works
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.005 · Cited by 818 · see citing works
Elevated immune response in the brain of autistic patients
Li, X., Chauhan, A., Sheikh, A. M., Patil, S., Chauhan, V., Li, X.-M., Ji, L., Brown, T., & Malik, M. (2009) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2008.12.002 · Cited by 786 · 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
Mouse behavioral tasks relevant to autism: Phenotypes of 10 inbred strains
MOY, S., NADLER, J., YOUNG, N., PEREZ, A., HOLLOWAY, L., BARBARO, R., BARBARO, J., WILSON, L., THREADGILL, D., & LAUDER, J. (2007) · Behavioural Brain Research · doi:10.1016/j.bbr.2006.07.030 · Cited by 776 · see citing works
Postnatal neurodevelopmental disorders: meeting at the synapse?
Zoghbi, H. Y. (2003) · Science · doi:10.1126/science.1089071 · Cited by 691 · see citing works
The genetics of autistic disorders and its clinical relevance: a review of the literature
Freitag, C. M. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001896 · Cited by 638 · see citing works
Autism and pervasive developmental disorders
Volkmar, F. R., Lord, C., Bailey, A., Schultz, R. T., & Klin, A. (2004) · Journal of Child Psychology and Psychiatry · doi:10.1046/j.0021-9630.2003.00317.x · Cited by 616 · see citing works
Arking, D. E., Cutler, D. J., Brune, C. W., Teslovich, T. M., West, K., Ikeda, M., Rea, A., Guy, M., Lin, S., Cook, E. H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.015 · Cited by 590 · see citing works
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
Searching for ways out of the autism maze: genetic, epigenetic and environmental clues
Persico, A. M., & Bourgeron, T. (2006) · Trends in Neurosciences · doi:10.1016/j.tins.2006.05.010 · Cited by 575 · see citing works
Mouse Behavioral Assays Relevant to the Symptoms of Autism*
Crawley, J. N. (2007) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00096.x · Cited by 541 · see citing works
Modeling Autism by SHANK Gene Mutations in Mice
Jiang, Y.-H., & Ehlers, M. D. (2013) · Neuron · doi:10.1016/j.neuron.2013.03.016 · Cited by 488 · see citing works
Nakatani, J., Tamada, K., Hatanaka, F., Ise, S., Ohta, H., Inoue, K., Tomonaga, S., Watanabe, Y., Chung, Y. J., Banerjee, R., et al. (2009) · Cell · doi:10.1016/j.cell.2009.04.024 · Cited by 482 · see citing works
Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs
Rosenberg, R. E., Law, J. K., Yenokyan, G., McGready, J., Kaufmann, W. E., & Law, P. A. (2009) · Archives of Pediatrics & Adolescent Medicine · doi:10.1001/archpediatrics.2009.98 · Cited by 495 · see citing works
Identifying neurocognitive phenotypes in autism
Tager-Flusberg, H., & Joseph, R. M. (2003) · Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences · doi:10.1098/rstb.2002.1198 · Cited by 460 · see citing works
What causes autism? Exploring the environmental contribution
Landrigan, P. J. (2010) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e328336eb9a · Cited by 429 · see citing works
Belmonte, M. K., Cook, E. H., Anderson, G. M., Rubenstein, J. L. R., Greenough, W. T., Beckel-Mitchener, A., Courchesne, E., Boulanger, L. M., Powell, S. B., Levitt, P. R., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001499 · Cited by 442 · see citing works
AutDB: a gene reference resource for autism research
Basu, S. N., Kollu, R., & Banerjee-Basu, S. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn835 · Cited by 394 · see citing works
Maternal and paternal age and risk of Autism Spectrum Disorders
Croen, L. A., Najjar, D. V., Fireman, B., & Grether, J. K. (2007) · Archives of Pediatrics & Adolescent Medicine · doi:10.1001/archpedi.161.4.334 · Cited by 410 · see citing works
Elevated cytokine levels in children with autism spectrum disorder
Molloy, C. A., Morrow, A. L., Meinzen-Derr, J., Schleifer, K., Dienger, K., Manning-Courtney, P., Altaye, M., & Wills-Karp, M. (2006) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2005.11.007 · Cited by 386 · 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
Self-citationThe factor structure of autistic traits
Constantino, J. N., Gruber, C. P., Davis, S., Hayes, S., Passanante, N., & Przybeck, T. (2004) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2004.00266.x · Cited by 370 · see citing works
Vorstman, J. A. S., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F. R., & Franke, L. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001757 · Cited by 353 · see citing works
Fernandez, B. A., Roberts, W., Chung, B., Weksberg, R., Meyn, S., Szatmari, P., Joseph-George, A. M., MacKay, S., Whitten, K., Noble, B., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.069369 · Cited by 335 · see citing works
Variation in Vocal-Motor Development in Infant Siblings of Children with Autism
Iverson, J. M., & Wozniak, R. H. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0339-z · Cited by 322 · see citing works
Villalobos, M. E., Mizuno, A., Dahl, B. C., Kemmotsu, N., & Müller, R.-A. (2005) · NeuroImage · doi:10.1016/j.neuroimage.2004.12.022 · Cited by 312 · see citing works
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 · see citing works
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., Liu, S., Karamohamed, S., Badner, J. A., Matsui, S., Conroy, J., McQuaid, D., et al. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.01.009 · Cited by 299 · 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
Assessing autism-like behavior in mice: Variations in social interactions among inbred strains
BOLIVAR, V, WALTERS, S., & PHOENIX, J. (2007) · Behavioural Brain Research · doi:10.1016/j.bbr.2006.09.007 · Cited by 264 · see citing works
Ronald, A., Happé, F., & Plomin, R. (2005) · Developmental Science · doi:10.1111/j.1467-7687.2005.00433.x · Cited by 250 · see citing works
Disorder-associated mutations lead to functional inactivation of neuroligins
Chih, B., Afridi, S. K., Clark, L., & Scheiffele, P. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh158 · Cited by 242 · see citing works
Social approach in genetically engineered mouse lines relevant to autism
Moy, S. S., Nadler, J. J., Young, N. B., Nonneman, R. J., Grossman, A. W., Murphy, D. L., D’Ercole, A. J., Crawley, J. N., Magnuson, T. R., & Lauder, J. M. (2009) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2008.00452.x · Cited by 246 · see citing works
Hussman, J. P., Chung, R.-H., Griswold, A. J., Jaworski, J. M., Salyakina, D., Ma, D., Konidari, I., Whitehead, P. L., Vance, J. M., Martin, E. R., et al. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-1 · Cited by 231 · see citing works
Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients
Sadakata, T., Washida, M., Iwayama, Y., Shoji, S., Sato, Y., Ohkura, T., Katoh-Semba, R., Nakajima, M., Sekine, Y., Tanaka, M., et al. (2007) · Journal of Clinical Investigation · doi:10.1172/jci29031 · Cited by 218 · see citing works
Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder
Reddy, K. S. (2005) · BMC Medical Genetics · doi:10.1186/1471-2350-6-3 · Cited by 222 · see citing works
Autism and intellectual disability: a study of prevalence on a sample of the Italian population
La Malfa, G., Lassi, S., Bertelli, M., Salvini, R., & Placidi, G. F. (2004) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2003.00567.x · Cited by 212 · see citing works
Atypically diffuse functional connectivity between caudate nuclei and cerebral cortex in autism
Turner, K. C., Frost, L., Linsenbardt, D., McIlroy, J. R., & Müller, R.-A. (2006) · Behavioral and Brain Functions · doi:10.1186/1744-9081-2-34 · Cited by 207 · see citing works
Psychiatric disorders in parents of children with autism: a meta-analysis
Yirmiya, N., & Shaked, M. (2005) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2004.00334.x · Cited by 198 · see citing works
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 · 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
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
Schaaf, C. P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle, E., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr243 · Cited by 175 · see citing works
Are Executive Control Functions Related to Autism Symptoms in High-Functioning Children?
Kenworthy, L., Black, D. O., Harrison, B., della Rosa, A., & Wallace, G. L. (2009) · Child Neuropsychology · doi:10.1080/09297040802646983 · Cited by 176 · see citing works
Mandy, W. P. L., & Skuse, D. H. (2008) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2008.01911.x · Cited by 169 · see citing works
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 · see citing works
SHANK3 controls maturation of social reward circuits in the VTA
Bariselli, S., Tzanoulinou, S., Glangetas, C., Prévost-Solié, C., Pucci, L., Viguié, J., Bezzi, P., O'Connor, E. C., Georges, F., Lüscher, C., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4319 · Cited by 168 · see citing works
Jiang, Y., Sahoo, T., Michaelis, R. C., Bercovich, D., Bressler, J., Kashork, C. D., Liu, Q., Shaffer, L. G., Schroer, R. J., Stockton, D. W., et al. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30297 · Cited by 159 · see citing works
The BTBR T+tf/J mouse model for autism spectrum disorders–in search of biomarkers
Meyza, K. Z., Defensor, E. B., Jensen, A. L., Corley, M. J., Pearson, B. L., Pobbe, R. L. H., Bolivar, V. J., Blanchard, D. C., & Blanchard, R. J. (2013) · Behavioural Brain Research · doi:10.1016/j.bbr.2012.07.021 · Cited by 147 · see citing works
Whitney, E. R., Kemper, T. L., Rosene, D. L., Bauman, M. L., & Blatt, G. J. (2009) · Journal of Neuroscience Research · doi:10.1002/jnr.22056 · Cited by 142 · see citing works
Defensor, E. B., Pearson, B. L., Pobbe, R. L. H., Bolivar, V. J., Blanchard, D. C., & Blanchard, R. J. (2011) · Behavioural Brain Research · doi:10.1016/j.bbr.2010.10.033 · Cited by 136 · see citing works
D'Amelio, M., Ricci, I., Sacco, R., Liu, X., D'Agruma, L., Muscarella, L. A., Guarnieri, V, Militerni, R., Bravaccio, C., Elia, M., et al. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001714 · Cited by 125 · see citing works
Munesue, T., Ono, Y., Mutoh, K., Shimoda, K., Nakatani, H., & Kikuchi, M. (2008) · Journal of Affective Disorders · doi:10.1016/j.jad.2008.02.015 · Cited by 120 · see citing works
Selkirk, C. G., McCarthy Veach, P., Lian, F., Schimmenti, L., & LeRoy, B. S. (2009) · Journal of Genetic Counseling · doi:10.1007/s10897-009-9233-0 · Cited by 118 · see citing works
Association of common variants in the Joubert syndrome gene (AHI1) with autism
Alvarez Retuerto, A. I., Cantor, R. M., Gleeson, J. G., Ustaszewska, A., Schackwitz, W. S., Pennacchio, L. A., & Geschwind, D. H. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn291 · Cited by 96 · see citing works
Kenworthy, L. E., Black, D. O., Wallace, G. L., Ahluvalia, T., Wagner, A. E., & Sirian, L. M. (2005) · Developmental Neuropsychology · doi:10.1207/s15326942dn2803_4 · Cited by 96 · see citing works
ARAKAWA, H., BLANCHARD, D., & BLANCHARD, R. (2007) · Behavioural Brain Research · doi:10.1016/j.bbr.2006.07.027 · Cited by 86 · see citing works
Effects of Rat Prenatal Exposure to Valproic Acid on Behaviour and Neuro-Anatomy
Mychasiuk, R., Richards, S., Nakahashi, A., Kolb, B., & Gibb, R. (2012) · Developmental Neuroscience · doi:10.1159/000341786 · Cited by 82 · see citing works
A high-density SNP genome-wide linkage scan in a large autism extended pedigree
Allen-Brady, K., Miller, J., Matsunami, N., Stevens, J., Block, H., Farley, M., Krasny, L., Pingree, C., Lainhart, J., Leppert, M., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2008.14 · Cited by 77 · see citing works
Oxytocin, sexually dimorphic features of the social brain, and autism
Yamasue, H., Kuwabara, H., Kawakubo, Y., & Kasai, K. (2009) · Psychiatry and Clinical Neurosciences · doi:10.1111/j.1440-1819.2009.01944.x · Cited by 78 · see citing works
Li, H., Zhao, P., Xu, Q., Shan, S., Hu, C., Qiu, Z., & Xu, X. (2016) · Scientific Reports · doi:10.1038/srep29878 · Cited by 56 · see citing works
Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome
Di Napoli, A., Warrier, V., Baron-Cohen, S., & Chakrabarti, B. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-48 · Cited by 59 · see citing works
Reynolds, S., Lane, S. J., & Richards, L. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9053-4 · Cited by 54 · see citing works
Lanz, T. A., Guilmette, E., Gosink, M. M., Fischer, J. E., Fitzgerald, L. W., Stephenson, D. T., & Pletcher, M. T. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-45 · Cited by 52 · 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
Breitenkamp, A. F. S., Matthes, J., Nass, R. D., Sinzig, J., Lehmkuhl, G., Nürnberg, P., & Herzig, S. (2014) · PLoS ONE · doi:10.1371/journal.pone.0095579 · Cited by 49 · see citing works
Immunologic and neurodevelopmental susceptibilities of autism
Pessah, I. N., Seegal, R. F., Lein, P. J., LaSalle, J., Yee, B. K., Van De Water, J., & Berman, R. F. (2008) · NeuroToxicology · doi:10.1016/j.neuro.2008.02.006 · Cited by 51 · see citing works
Polymorphisms of candidate genes in Slovak autistic patients
Kelemenova, S., Schmidtova, E., Ficek, A., Celec, P., Kubranska, A., & Ostatnikova, D. (2010) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32833a1eb3 · Cited by 50 · see citing works
Predicting white matter integrity from multiple common genetic variants
Kohannim, O., Jahanshad, N., Braskie, M. N., Stein, J. L., Chiang, M.-C., Reese, A. H., Hibar, D. P., Toga, A. W., McMahon, K. L., de Zubicaray, G. I., et al. (2012) · Neuropsychopharmacology · doi:10.1038/npp.2012.49 · Cited by 50 · see citing works
Yang, S. Y., Cho, S.-C., Yoo, H. J., Cho, I. H., Park, M., Kim, B.-N., Kim, J.-W., Shin, M.-S., Park, T.-W., Son, J.-W., et al. (2010) · Neuroscience Letters · doi:10.1016/j.neulet.2010.05.050 · Cited by 45 · see citing works
A Case–Control Study of Personality Style and Psychopathology in Parents of Subjects with Autism
Bölte, S., Knecht, S., & Poustka, F. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0165-3 · Cited by 42 · see citing works
Identification of autoimmune gene signatures in autism
Jung, J.-Y., Kohane, I. S., & Wall, D. P. (2011) · Translational Psychiatry · doi:10.1038/tp.2011.62 · Cited by 24 · see citing works
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
Gilling, M., Lauritsen, M. B., Møller, M., Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, H., Andersen, P. S., Mors, O., et al. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201985 · Cited by 18 · see citing works
- Authors
- Folstein, S. E., & Rosen-Sheidley, B.
- Affiliations
- Tufts University (US)
- Venue
- Nature Reviews Genetics
- Published
- 2001-12-01
- Volume
- 2
- Issue
- 12
- Pages
- 943-955
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2005149292
- Cited by
- 771
- References
- 136
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 6 · 2023: 7 · 2022: 8 · 2021: 12 · 2020: 12 · 2019: 15 · 2018: 14 · 2017: 17 · 2016: 29 · 2015: 46 · 2014: 31 · 2013: 41 · 2012: 47
- FWCI
- 2.75
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- 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 › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, genetic aetiology, twin studies, chromosomal abnormalities, genome-wide association study, candidate genes, genetic heterogeneity
- MeSH terms
- Autistic Disorder, Chromosome Mapping, Female, Genetic Counseling, Humans, Male, Phenotype, Genome, Human
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