Rethinking the nature of genetic vulnerability to autistic spectrum disorders
Abstract
Autism is a common and genetically heterogeneous disorder, with an estimated heritability of >90%. Its specific underlying causes are largely unknown. Here, I propose that low levels of autistic vulnerability, reflected in social-cognitive processing differences, do not necessarily manifest in a behavioural phenotype but are usually compensated for during development. They are more likely to lead to a recognizable syndrome among individuals of low intelligence, who are male or have independent neurodevelopmental vulnerability owing to a wide range of gene mutations, chromosomal anomalies or environmental insults. Consequently, the apparent association between mental retardation and autistic syndromes is not because they usually have common causes, but rather because the presence of both features greatly increases the probability of clinical ascertainment.
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?
Intellectual disability genes are important in ASD.
“We also found intellectual disability genes to be important in ASD 29 .”
From Functional impact of global rare copy number variation in autism spectrum disorders (2010) · cites this paper as [29]
Endophenotypes in high-functioning children mainly seen in mothers.
“Interestingly, endophenotypes in high-functioning children are mainly seen in their mothers (21).”
From Low load for disruptive mutations in autism genes and their biased transmission (2015) · cites this paper as [21]
Cites
Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,841 · see citing works
Diagnostic and Statistical Manual of Mental Disorders.
Widiger, T. A. (2000) · Oxford University Press eBooks · doi:10.1037/10518-009 · Cited by 19,767 · see citing works
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
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works
Self-citationAutism 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
Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., & Charman, T. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69041-7 · Cited by 2,104 · see citing works
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402 · see citing works
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
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
The Autism Diagnostic Observation Schedule: Revised Algorithms for Improved Diagnostic Validity
Gotham, K., Risi, S., Pickles, A., & Lord, C. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0280-1 · Cited by 1,161 · see citing works
Time to give up on a single explanation for autism
Happé, F., Ronald, A., & Plomin, R. (2006) · Nature Neuroscience · doi:10.1038/nn1770 · Cited by 987 · see citing works
Pervasive Developmental Disorders in Preschool Children: Confirmation of High Prevalence
Chakrabarti, S., & Fombonne, E. (2005) · American Journal of Psychiatry · doi:10.1176/appi.ajp.162.6.1133 · Cited by 791 · 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
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
Self-citationTuchman, R. F., & Rapin, I. (2002) · The Lancet Neurology · doi:10.1016/s1474-4422(02)00160-6 · Cited by 713 · see citing works
Frith, C. D. (2007) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2006.2003 · Cited by 690 · 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
Genetic Heterogeneity Between the Three Components of the Autism Spectrum: A Twin Study
RONALD, A., HAPPÉ, F., BOLTON, P., BUTCHER, L. M., PRICE, T. S., WHEELWRIGHT, S., BARON-COHEN, S., & PLOMIN, R. (2006) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000215325.13058.9d · Cited by 508 · see citing works
The Changing Prevalence of Autism in California
Croen, L., Grether, J. K., Hoogstrate, J., & Selvin, S. (2002) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1015453830880 · Cited by 502 · see citing works
Systematic review of prevalence studies of autism spectrum disorders
Williams, J. G. (2005) · Archives of Disease in Childhood · doi:10.1136/adc.2004.062083 · Cited by 463 · see citing works
A Broader Phenotype of Autism: The Clinical Spectrum in Twins
Couteur, A. S. L., Bailey, A. J., Goode, S., Pickles, A. R., Gottesman, I. I., Robertson, S., & Rutter, M. L. (1996) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1996.tb01475.x · Cited by 442 · 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
Autism, affective and other psychiatric disorders: Patterns of familial aggregation
BOLTON, P. F., PICKLES, A., MURPHY, M., & RUTTER, M. (1998) · Psychological Medicine · doi:10.1017/s0033291797006004 · Cited by 387 · see citing works
Lainhart, J. E., Bigler, E. D., Bocian, M., Coon, H., Dinh, E., Dawson, G., Deutsch, C. K., Dunn, M., Estes, A., Tager‐Flusberg, H., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31465 · Cited by 381 · see citing works
Concordance for the syndrome of autism in 40 pairs of afflicted twins
(1985) · American Journal of Psychiatry · doi:10.1176/ajp.142.1.74 · Cited by 378 · see citing works
Fragile X syndrome and autism at the intersection of genetic and neural networks
Belmonte, M. K., & Bourgeron, T. (2006) · Nature Neuroscience · doi:10.1038/nn1765 · Cited by 345 · see citing works
The 22q11.2 Deletion in Children
Vorstman, J. A. S., Morcus, M. E. J., Duijff, S. N., Klaassen, P., Boer, J. A. H., Beemer, F. A., Swaab, H., Kahn, R. S., & van Engeland, H. (2006) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000228131.56956.c1 · Cited by 344 · see citing works
Skuse, D. H., Mandy, W. P. L., & Scourfield, J. (2005) · British Journal of Psychiatry · doi:10.1192/bjp.187.6.568 · Cited by 322 · see citing works
Self-citationOwen, M. J., Craddock, N. J., & O’Donovan, M. C. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.06.011 · Cited by 308 · see citing works
Posserud, M., Lundervold, A. J., & Gillberg, C. (2006) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2005.01462.x · Cited by 307 · see citing works
Autistic social impairment in the siblings of children with pervasive developmental disorders
Constantino, J. N., Lajonchere, C., Lutz, M., Gray, T., Abbacchi, A., McKenna, K., Singh, D., & Todd, R. D. (2006) · American Journal of Psychiatry · doi:10.1176/appi.ajp.163.2.294 · Cited by 294 · 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
Self-citationLaws, G., & Bishop, D. (2004) · International Journal of Language & Communication Disorders · doi:10.1080/13682820310001615797 · Cited by 285 · see citing works
Terwilliger, J. D., & Göring, H. H. H. (2009) · Human Biology · doi:10.3378/027.081.0615 · Cited by 255 · see citing works
Phenotypic and Genetic Overlap Between Autistic Traits at the Extremes of the General Population
Ronald, A., Happe, F. G. E., Price, T. S., Baron‐Cohen, S., & Plomin, R. J. (2006) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000230165.54117.41 · Cited by 232 · see citing works
Brief Report: “The Autism Epidemic”. The Registered Prevalence of Autism in a Swedish Urban Area
Gillberg, C., Cederlund, M., Lamberg, K., & Zeijlon, L. (2006) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0081-6 · Cited by 226 · 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 near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome
Sikora, D. M., Pettit‐Kekel, K., Penfield, J., Merkens, L. S., & Steiner, R. D. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31294 · Cited by 196 · see citing works
Spiker, D., Lotspeich, L. J., Dimiceli, S., Myers, R. M., & Risch, N. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10188 · Cited by 193 · see citing works
Fetal testosterone and empathy
Knickmeyer, R. C., Baron‐Cohen, S., Raggatt, P. R., Taylor, K., & Hackett, G. A. (2005) · Hormones and Behavior · doi:10.1016/j.yhbeh.2005.08.010 · Cited by 185 · see citing works
Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion)
Antshel, K. M., Aneja, A., Strunge, L., Peebles, J., Fremont, W. P., Stallone, K., AbdulSabur, N., Higgins, A. M., Shprintzen, R. J., & Kates, W. R. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0308-6 · Cited by 183 · see citing works
Phenotypic Homogeneity Provides Increased Support for Linkage on Chromosome 2 in Autistic Disorder
Shao, Y., Raiford, K. L., Wolpert, C. M., Cope, H., Ravan, S. A., Ashley‐Koch, A. E., Abramson, R. K., Wright, H. H., DeLong, R. G., Gilbert, J. R., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339765 · Cited by 172 · see citing works
Heritable and Nonheritable Risk Factors for Autism Spectrum Disorders
Newschaffer, C. J. (2002) · Epidemiologic Reviews · doi:10.1093/epirev/mxf010 · Cited by 164 · see citing works
Predictors 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
Dawson, G., Estes, A., Munson, J., Schellenberg, G., Bernier, R., & Abbott, R. D. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0182-2 · Cited by 153 · see citing works
Cumulative incidence of childhood autism: a total population study of better accuracy and precision
Honda, H., Shimizu, Y., Imai, M., & Nitto, Y. (2005) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162205000034 · Cited by 143 · see citing works
Bishop, D., Maybery, M. T., Wong, D. K., Maley, A., & Hallmayer, J. F. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30267 · Cited by 139 · see citing works
A Quantitative Trait Locus Analysis of Social Responsiveness in Multiplex Autism Families
Duvall, J. A., Lu, A. T.-H., Cantor, R. M., Todd, R. D., Constantino, J. N., & Geschwind, D. H. (2007) · American Journal of Psychiatry · doi:10.1176/ajp.2007.164.4.656 · Cited by 138 · see citing works
Symptom domains in autism and related conditions: evidence for familiality.
Silverman, J., Smith, C. J., Schmeidler, J., Hollander, E., Lawlor, B., Fitzgerald, M., Buxbaum, J., Delaney, K., & Galvin, P. (2002) · American journal of medical genetics · doi:10.1002/ajmg.10048 · Cited by 138 · see citing works
Evidence for multiple loci from a genome scan of autism kindreds
Schellenberg, G. D., Dawson, G., Sung, Y. J., Estes, A., Munson, J., Rosenthal, E., Rothstein, J., Flodman, P., Smith, M., Coon, H., et al. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001874 · Cited by 129 · see citing works
The XYY syndrome: a follow-up study on 38 boys.
Geerts, M., Steyaert, J. G., & Fryns, J. P. (2003) · PubMed · Cited by 118 · see citing works
Sung, Y. J., Dawson, G., Munson, J., Estes, A., Schellenberg, G. D., & Wijsman, E. M. (2005) · The American Journal of Human Genetics · doi:10.1086/426951 · Cited by 113 · see citing works
Heritability of social cognitive skills in children and adolescents
Scourfield, J., Martin, N. C., Lewis, G., & McGuffin, P. (1999) · The British Journal of Psychiatry · doi:10.1192/bjp.175.6.559 · Cited by 110 · see citing works
Social Behavior Problems in Boys with Duchenne Muscular Dystrophy
Hinton, V. J., Nereo, N. E., Fee, R. J., & Cyrulnik, S. E. (2006) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-200612000-00003 · Cited by 110 · see citing works
van Rijn, S., Swaab, H., Aleman, A., & Kahn, R. S. (2006) · Schizophrenia Research · doi:10.1016/j.schres.2006.02.020 · Cited by 104 · see citing works
Cumulative incidence of childhood autism: a total population study of better accuracy and precision
Honda, H., Shimizu, Y., Imai, M., & Nitto, Y. (2007) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2005.tb01034.x · Cited by 102 · see citing works
Endophenotype Approach to Developmental Psychopathology: Implications for Autism Research
Viding, E. M., & Blakemore, S. (2006) · Behavior Genetics · doi:10.1007/s10519-006-9105-4 · Cited by 91 · see citing works
Carter, J. C., Capone, G. T., Gray, R. M., Cox, C., & Kaufmann, W. E. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30407 · Cited by 91 · see citing works
Creswell, C. S., & Skuse, D. H. (1999) · Neurocase · doi:10.1080/13554799908402746 · Cited by 87 · see citing works
Self-citationMutation screening and association analysis of six candidate genes for autism on chromosome 7q
Bonora, E., Lamb, J. A., Barnby, G., Sykes, N., Moberly, T., Beyer, K. S., Klauck, S. M., Poustka, F., Bacchelli, E., Blasi, F., et al. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201315 · Cited by 81 · see citing works
Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypes.
Patwardhan, A. J., Brown, W. E., Bender, B., Linden, M., Eliez, S., & Reiss, A. (2002) · American journal of medical genetics · doi:10.1002/ajmg.10154 · Cited by 74 · see citing works
Genetic influences on the neural basis of social cognition
Skuse, D. (2006) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2006.1935 · Cited by 61 · see citing works
Self-citationNeuroepileptic correlates of autistic symptomatology in tuberous sclerosis
Bolton, P. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20024 · Cited by 58 · see citing works
Familial symptom domains in monozygotic siblings with autism
Kolevzon, A., Smith, C. J., Schmeidler, J., Buxbaum, J. D., & Silverman, J. M. (2004) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30011 · Cited by 56 · see citing works
The Childhood Asperger Syndrome Test (CAST)
Allison, C. L., Williams, J. G., Gullon-Scott, F., Stott, C., Bolton, P., Baron‐Cohen, S., & Brayne, C. (2007) · Autism · doi:10.1177/1362361307075710 · Cited by 52 · see citing works
Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14
Q, D., Cuccaro, M. L., Jaworski, J. M., Haynes, C. S., Stephan, D. A., Parod, J. M., Abramson, R. K., Wright, H. H., Gilbert, J. R., Haines, J. L., et al. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001927 · Cited by 50 · see citing works
Y chromosome haplogroups in autistic subjects
Jamain, S., Quach, H., Quintana‐Murci, L., Betancur, C., Philippe, A., Gillberg, C., Sponheim, E., Skjeldal, O. H., Fellous, M., Leboyer, M., et al. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4000968 · Cited by 46 · see citing works
Blaxill, M. F., Baskin, D. S., & Spitzer, W. O. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1022912115365 · Cited by 43 · see citing works
A Quantitative Trait Locus Analysis of Social Responsiveness in Multiplex Autism Families
Duvall, J. A. (2007) · American Journal of Psychiatry · doi:10.1176/appi.ajp.164.4.656 · Cited by 39 · see citing works
A Family Genetic Study of Autism Associated with Profound Mental Retardation
Starr, E. M., Berument, S. K., Pickles, A. R., Tomlins, M., Bailey, A. J., Papanikolaou, Κ., & Rutter, M. L. (2001) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005669915105 · Cited by 37 · see citing works
Thermometers: Something for Statistical Geneticists to Think about
Vieland, V. J. (2006) · Human Heredity · doi:10.1159/000093775 · Cited by 36 · see citing works
Bartlett, C. W., & Vieland, V. J. (2006) · Genetic Epidemiology · doi:10.1002/gepi.20193 · Cited by 26 · see citing works
Measuring Social-Cognitive Functions in Children with Somatotropic Axis Dysfunction
Skuse, D., Lawrence, K., & Tang, J. C. Y. (2005) · Hormone Research in Paediatrics · doi:10.1159/000089321 · Cited by 26 · see citing works
Self-citationSequence variants within exon 1 of MECP2 occur in females with mental retardation
Harvey, C. G., Menon, S. D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A. K., Mnatzakanian, G. N., Alfred, S. E., Guo, R., Scherer, S. W., et al. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30425 · Cited by 23 · see citing works
Rett Syndrome: A Rosetta Stone for Understanding the Molecular Pathogenesis of Autism
LaSalle, J. M., Hogart, A., & Thatcher, K. N. (2005) · International review of neurobiology · doi:10.1016/s0074-7742(05)71006-0 · Cited by 21 · see citing works
A surprising MET amorphosis: Autism genetics finds a common functional variant
State, M. W. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0608027103 · Cited by 5 · see citing works
Flagged first, then by citations
2 of the 80 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013 · see citing works
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263 · see citing works
From the genetic architecture to synaptic plasticity in autism spectrum disorder
Bourgeron, T. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3992 · Cited by 975 · 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
Autism risk factors: genes, environment, and gene-environment interactions
Chaste, P., & Leboyer, M. (2012) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2012.14.3/pchaste · Cited by 807 · see citing works
The social brain in psychiatric and neurological disorders
Kennedy, D. P., & Adolphs, R. (2012) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2012.09.006 · Cited by 798 · see citing works
A behavioral comparison of male and female adults with high functioning autism spectrum conditions
Lai, M.-C., Lombardo, M. V., Pasco, G., Ruigrok, A. N. V., Wheelwright, S. J., Sadek, S. A., Chakrabarti, B., MRC AIMS Consortium, & Baron-Cohen, S. (2011) · PLoS ONE · doi:10.1371/journal.pone.0020835 · Cited by 650 · see citing works
Autism spectrum disorders and autistic traits: A decade of new twin studies
Ronald, A., & Hoekstra, R. A. (2011) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31159 · Cited by 616 · see citing works
Psychosis and autism as diametrical disorders of the social brain
Crespi, B. J., & Badcock, C. R. (2008) · Behavioral and Brain Sciences · doi:10.1017/s0140525x08004214 · Cited by 618 · 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
Livingston, L. A., & Happé, F. (2017) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2017.06.005 · Cited by 414 · see citing works
Totsika, V., Hastings, R. P., Emerson, E., Lancaster, G., & Berridge, D. M. (2010) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2010.02295.x · Cited by 409 · see citing works
Richards, C., Jones, C., Groves, L., Moss, J. F., & Oliver, C. (2015) · The Lancet Psychiatry · doi:10.1016/s2215-0366(15)00376-4 · Cited by 397 · see citing works
ASD in Females: Are We Overstating the Gender Difference in Diagnosis?
Kreiser, N. L., & White, S. W. (2014) · Clinical Child and Family Psychology Review · doi:10.1007/s10567-013-0148-9 · Cited by 367 · see citing works
Genetics of Early Onset Cognitive Impairment
Ropers, H. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141640 · Cited by 365 · 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
The conundrums of understanding genetic risks for autism spectrum disorders
State, M. W., & Levitt, P. (2011) · Nature Neuroscience · doi:10.1038/nn.2924 · Cited by 306 · see citing works
Mandy, W., & Lai, M. (2016) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12501 · Cited by 283 · see citing works
Review of gender differences in core symptomatology in autism spectrum disorders
Rivet, T. T., & Matson, J. L. (2011) · Research in Autism Spectrum Disorders · doi:10.1016/j.rasd.2010.12.003 · Cited by 258 · see citing works
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
Willsey, H. R., Willsey, A. J., Wang, B., & State, M. W. (2022) · Nature reviews. Neuroscience · doi:10.1038/s41583-022-00576-7 · Cited by 229 · see citing works
Heterogeneity within Autism Spectrum Disorders: What have We Learned from Neuroimaging Studies?
Lenroot, R., & Yeung, P. K. (2013) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2013.00733 · Cited by 230 · see citing works
Cognition in males and females with autism: similarities and differences
Lai, M.-C., Lombardo, M. V., Ruigrok, A. N. V., Chakrabarti, B., Wheelwright, S. J., Auyeung, B., Allison, C., MRC AIMS Consortium, & Baron-Cohen, S. (2012) · PLoS ONE · doi:10.1371/journal.pone.0047198 · Cited by 217 · see citing works
Skuse, D. H., Mandy, W., Steer, C., Miller, L. L., Goodman, R., Lawrence, K., Emond, A., & Golding, J. (2009) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e31819176b8 · Cited by 205 · see citing works
Self-citationGenetics of intellectual disability
Ropers, H. H. (2008) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2008.07.008 · Cited by 199 · see citing works
Freeth, M., Chapman, P., Ropar, D., & Mitchell, P. (2009) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-009-0893-2 · Cited by 178 · see citing works
Low load for disruptive mutations in autism genes and their biased transmission
Iossifov, I., Levy, D., Allen, J., Ye, K., Ronemus, M., Lee, Y.-H., Yamrom, B., & Wigler, M. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1516376112 · Cited by 156 · see citing works
Dong, S., Walker, M. F., Carriero, N. J., DiCola, M. J., Willsey, A. J., Ye, A. Y., Waqar, Z., González, L. E., Overton, J. D., Frahm, S., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.08.068 · Cited by 173 · 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
Self-citationRosenfeld, 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
Katz, G., & Lazcano-Ponce, E. C. (2008) · Salud Pública de México · doi:10.1590/s0036-36342008000800005 · Cited by 169 · see citing works
Wermter, A., Kamp‐Becker, I., Hesse, P., Schulte‐Körne, G., Strauch, K., & Remschmidt, H. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31032 · Cited by 163 · see citing works
The genetics of child psychiatric disorders: focus on autism and Tourette syndrome
State, M. W. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.004 · Cited by 162 · see citing works
A framework for an evidence-based gene list relevant to autism spectrum disorder
Schaaf, C. P., Betancur, C., Yuen, R. K. C., Parr, J. R., Skuse, D., Gallagher, L., Bernier, R., Buchanan, J. A., Buxbaum, J. D., Chen, C., et al. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-0231-2 · Cited by 137 · see citing works
Self-citationGidziela, A., Ahmadzadeh, Y. I., Michelini, G., Allegrini, A. G., Agnew‐Blais, J. C., Lau, L. Y., Duret, M., Procopio, F., Daly, E., Ronald, A., et al. (2023) · Nature Human Behaviour · doi:10.1038/s41562-023-01530-y · Cited by 125 · see citing works
Autism spectrum disorders: The quest for genetic syndromes
Zafeiriou, D., Ververi, A., Dafoulis, V., Kalyva, E., & Vargiami, E. (2013) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32152 · Cited by 104 · 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
Toddlers with Elevated Autism Symptoms Show Slowed Habituation to Faces
Webb, S. J., Jones, E. J. H., Merkle, K. L., Namkung, J. M., Toth, K., Greenson, J., Murias, M., & Dawson, G. (2010) · Child Neuropsychology · doi:10.1080/09297041003601454 · Cited by 102 · see citing works
Bishop, S. L., Farmer, C., Bal, V., Robinson, E. B., Willsey, A. J., Werling, D. M., Havdahl, K. A., Sanders, S. J., & Thurm, A. (2017) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2017.16101115 · Cited by 92 · see citing works
Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes
Liu, X.-Q., Paterson, A. D., & Szatmári, P. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.05.023 · Cited by 89 · see citing works
Autism Biomarkers: Challenges, Pitfalls and Possibilities
Anderson, G. M. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2225-4 · Cited by 82 · see citing works
Validation of DSM-IV Model of Psychiatric Syndromes in Children with Autism Spectrum Disorders
Lecavalier, L., Gadow, K. D., DeVincent, C. J., & Edwards, M. C. (2008) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-008-0622-2 · Cited by 79 · see citing works
Autism Spectrum Disorder Profile in Neurofibromatosis Type I
Garg, S., Plasschaert, E., Descheemaeker, M., Huson, S., Borghgraef, M., Vogels, A., Evans, D. G., Legius, E., & Green, J. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2321-5 · Cited by 76 · see citing works
An SNP in an ultraconserved regulatory element affects <i>Dlx5/Dlx6</i> regulation in the forebrain
Poitras, L., Yu, M., Lesage-Pelletier, C., MacDonald, R. B., Gagné, J.-P., Hatch, G., Kelly, I., Hamilton, S. P., Rubenstein, J. L. R., Poirier, G. G., et al. (2010) · Development · doi:10.1242/dev.051052 · Cited by 69 · see citing works
Rhodes, G., Jeffery, L., Taylor, L., & Ewing, L. (2013) · Neuropsychologia · doi:10.1016/j.neuropsychologia.2013.08.016 · Cited by 68 · see citing works
Characteristics of autism spectrum disorder in Cornelia de Lange syndrome
Moss, J. F., Howlin, P., Magiati, I., & Oliver, C. (2012) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2012.02540.x · Cited by 67 · see citing works
Pourcain, B. S., Wang, K., Glessner, J., Golding, J., Steer, C. D., Ring, S. M., Skuse, D., Grant, S. F. A., Hakonarson, H. H., & Smith, G. D. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.09121789 · Cited by 68 · see citing works
Self-citationAssociation testing of copy number variants in schizophrenia and autism spectrum disorders
Crespi, B. J., & Crofts, H. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-15 · Cited by 66 · see citing works
Cummings, K., Watkins, A., Jones, C. A., Dias, R. P., & Welham, A. (2022) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-021-09406-w · Cited by 66 · see citing works
Damaging de novo mutations diminish motor skills in children on the autism spectrum
Buja, A., Volfovsky, N., Krieger, A. M., Lord, C., Lash, A. E., Wigler, M., & Iossifov, I. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1715427115 · Cited by 64 · see citing works
Connolly, J. J., Glessner, J., & Hakonarson, H. H. (2012) · Child Development · doi:10.1111/j.1467-8624.2012.01838.x · Cited by 62 · see citing works
Hoekstra, R. A., Happe, F. G. E., Baron‐Cohen, S., & Ronald, A. (2009) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.108.060889 · Cited by 59 · see citing works
The origins and evolution of genetic disease risk in modern humans
Crespi, B. J. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2010.05707.x · Cited by 55 · see citing works
Moss, J. F., Oliver, C., Nelson, L., Richards, C., & Hall, S. S. (2013) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-118.1.55 · Cited by 56 · see citing works
Snow, A. V., & Lecavalier, L. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-010-1054-3 · Cited by 54 · see citing works
Autistic Heterogeneity: Linking Uncertainties and Indeterminacies
Hollin, G. J. S. (2016) · Science as Culture · doi:10.1080/09505431.2016.1238886 · Cited by 55 · see citing works
Narrowing the broader autism phenotype
Whitehouse, A., Coon, H. H., Miller, J. N., Salisbury, B., & Bishop, D. (2010) · Autism · doi:10.1177/1362361310382107 · Cited by 56 · see citing works
Gender Differences in Core Symptomatology in Autism Spectrum Disorders across the Lifespan
Taylor, T., & Matson, J. L. (2011) · Journal of Developmental and Physical Disabilities · doi:10.1007/s10882-011-9235-3 · Cited by 53 · see citing works
Sex differences and within-family associations in the broad autism phenotype
Klusek, J., Losh, M. C., & Martin, G. E. (2012) · Autism · doi:10.1177/1362361312464529 · Cited by 52 · see citing works
Deconstructing the PDD clinical phenotype: internal validity of the DSM-IV
Lecavalier, L., Gadow, K. D., DeVincent, C. J., Houts, C., & Edwards, M. C. (2009) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2009.02104.x · Cited by 49 · see citing works
The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability
Chaste, P., Roeder, K., & Devlin, B. (2017) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022647 · Cited by 49 · see citing works
Neuroimaging endophenotypes in autism spectrum disorder
Mahajan, R., & Mostofsky, S. H. (2015) · CNS Spectrums · doi:10.1017/s1092852915000371 · Cited by 49 · see citing works
Moss, J. F., Howlin, P., Hastings, R. P., Beaumont, S., Griffith, G. M., Petty, J. L., Tunnicliffe, P., Yates, R. E., Villa, D., & Oliver, C. (2013) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-118.4.262 · Cited by 46 · see citing works
Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?
Schiff, M., Benoist, J., Aissaoui, S., Boespflug‐Tanguy, O., Mouren, M., de Baulny, H. O., & Delorme, R. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021932 · Cited by 46 · see citing works
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
Baker, E. K., Arpone, M., Aliaga, S., Bretherton, L., Ure, A. M., Kraan, C. M., Bui, M., Ling, L., Francis, D. I., Hunter, M. F., et al. (2019) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-019-9288-7 · Cited by 46 · see citing works
Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S. M., Duketis, E., Poustka, F., Schlitt, S., Freitag, C. M., Lee, I., et al. (2011) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31201 · Cited by 34 · see citing works
Self-citationLi, Y., & Alam, H. B. (2011) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-5638-5_11 · Cited by 36 · see citing works
Autism - A Neurodevelopmental Journey from Genes to Behaviour
Eapen, V. (2011) · InTech eBooks · doi:10.5772/974 · Cited by 36 · see citing works
Choo, A. L., Smith, S. A., & Li, H. (2020) · BMC Psychology · doi:10.1186/s40359-020-00481-7 · Cited by 35 · see citing works
Autism Spectrum Disorders and Intellectual Disability
Lecavalier, L., Snow, A. V., & Norris, M. (2011) · Springer eBooks · doi:10.1007/978-1-4419-8065-6_4 · Cited by 35 · see citing works
Richards, C., Powis, L., Moss, J. F., Stinton, C., Nelson, L., & Oliver, C. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9217-6 · Cited by 35 · see citing works
Hoekstra, R. A., Happé, F., Baron‐Cohen, S., & Ronald, A. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31066 · Cited by 34 · see citing works
Qui non proficit, deficit: Experimental models for ‘integrative’ research of affective disorders
LaPorte, J. L., Egan, R. J., Hart, P. C., Bergner, C., Cachat, J., Canavello, P. R., & Kalueff, A. V. (2009) · Journal of Affective Disorders · doi:10.1016/j.jad.2009.04.010 · Cited by 32 · see citing works
A Candidate Gene Association Study Further Corroborates Involvement of Contactin Genes in Autism
Poot, M. (2014) · Molecular Syndromology · doi:10.1159/000362891 · Cited by 33 · see citing works
Gadow, K. D., & DeVincent, C. J. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1473-4 · Cited by 32 · see citing works
The Cognitive Profile in Autism Spectrum Disorders
Mandy, W., Murin, M., & Skuse, D. (2015) · Key issues in mental health (Online)/Key issues in mental health (Print) · doi:10.1159/000363565 · Cited by 31 · see citing works
Self-citationRefining psychiatric genetics: from ‘mouse psychiatry’ to understanding complex human disorders
LaPorte, J. L., Ren‐Patterson, R. F., Murphy, D. L., & Kalueff, A. V. (2008) · Behavioural Pharmacology · doi:10.1097/fbp.0b013e32830dc09b · Cited by 28 · see citing works
A Unifying Theory for Autism: The Pathogenetic Triad as a Theoretical Framework
Sarovic, D. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.767075 · Cited by 26 · see citing works
Moss, J. F., Howlin, P., & Oliver, C. (2012) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780195305012.013.0018 · Cited by 26 · see citing works
Ronald, A., & Hoekstra, R. A. (2014) · Springer eBooks · doi:10.1007/978-1-4614-9509-3_2 · Cited by 24 · see citing works
Gadow, K. D. (2013) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2013.01.011 · Cited by 25 · see citing works
Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci
Moreno‐De‐Luca, D., Moreno-De-Luca, A., Cubells, J. F., & Sanders, S. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0045-7 · Cited by 24 · see citing works
Øien, R. A., Vambheim, S. M., Hart, L., Nordahl‐Hansen, A., Erickson, C. A., Wink, L. K., Eisemann, M. R., Shic, F., Volkmar, F. R., & Grodberg, D. (2018) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-018-3488-y · Cited by 24 · see citing works
Tatton‐Brown‐Rahman syndrome: cognitive and behavioural phenotypes
Lane, C., Tatton‐Brown, K., & Freeth, M. (2019) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.14426 · Cited by 22 · see citing works
The evolutionary social brain: From genes to psychiatric conditions
Crespi, B. J., & Badcock, C. R. (2008) · Behavioral and Brain Sciences · doi:10.1017/s0140525x08004457 · Cited by 20 · see citing works
Rare Genomic Deletions and Duplications and their Role in Neurodevelopmental Disorders
Glessner, J., Connolly, J. J., & Hakonarson, H. H. (2011) · Current topics in behavioral neurosciences · doi:10.1007/7854_2011_179 · Cited by 22 · see citing works
Poot, M. (2013) · Molecular Syndromology · doi:10.1159/000350041 · Cited by 22 · see citing works
Infancy, autism, and the emergence of a socially disordered body
Hollin, G. J. S., & Pilnick, A. (2014) · Social Science & Medicine · doi:10.1016/j.socscimed.2014.07.050 · Cited by 21 · see citing works
High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters
Chaste, P., Betancur, C., Gérard‐Blanluet, M., Bargiacchi, A., Kuzbari, S., Drunat, S., Leboyer, M., Bourgeron, T., & Delorme, R. (2012) · Molecular Autism · doi:10.1186/2040-2392-3-5 · Cited by 21 · see citing works
Genetische und hirnstrukturelle Anomalien bei Autismus-Spektrum-Störungen
Nickl‐Jockschat, T., & Michel, T. M. (2010) · Der Nervenarzt · doi:10.1007/s00115-010-2989-5 · Cited by 21 · see citing works
Syndromic Autism: Progressing Beyond Current Levels of Description
Glennon, J. M., Karmiloff‐Smith, A., & Thomas, M. S. C. (2017) · Review Journal of Autism and Developmental Disorders · doi:10.1007/s40489-017-0116-2 · Cited by 20 · see citing works
Hepburn, S., & Moody, E. J. (2011) · International review of research in developmental disabilities · doi:10.1016/b978-0-12-374478-4.00009-5 · Cited by 19 · see citing works
Xie, Z., Li, J., Baker, J. S., Eagleson, K. L., Coba, M. P., & Levitt, P. R. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.02.022 · Cited by 19 · see citing works
Is autism really a coherent syndrome in boys, or girls?
Skuse, D. (2008) · British Journal of Psychology · doi:10.1348/000712608x369459 · Cited by 17 · see citing works
Self-citationAutism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment
Deutsch, S. I. (2011) · InTech eBooks · doi:10.5772/976 · Cited by 16 · see citing works
Phenotypic Variability in Autism Spectrum Disorder: Clinical Considerations
Lecavalier, L. (2014) · Autism and child psychopathology series · doi:10.1007/978-3-319-06796-4_2 · Cited by 15 · see citing works
An etiologic classification of autism spectrum disorders.
Gabis, L. V., & Pomeroy, J. C. (2014) · PubMed · Cited by 15 · see citing works
Etiology of Autism Spectrum Disorder: A Genomics Perspective
Connolly, J. J., & Hakonarson, H. H. (2014) · Current Psychiatry Reports · doi:10.1007/s11920-014-0501-9 · Cited by 15 · see citing works
Schiff, M., Benoist, J., Aissaoui, S., Boespflug‐Tanguy, O., Mouren, M., de Baulny, H. O., & Delorme, R. (2011) · PLoS ONE · doi:10.1371/annotation/456e2365-a067-4063-b11b-6a2abeba3f20 · Cited by 14 · see citing works
Moss, J. F., & Howlin, P. (2009) · University of Birmingham Institutional Research Archive (University of Birmingham) · Cited by 13 · see citing works
- Authors
- Skuse, D. H.
- Affiliations
- University College London (GB)
- Corresponding author
- Skuse, David H.
- ORCID
- Skuse, David H.
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2007-08
- Volume
- 23
- Issue
- 8
- Pages
- 387-395
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W2025142360
- Cited by
- 147
- References
- 80
- Citations by year
- 2023: 4 · 2022: 7 · 2021: 3 · 2020: 3 · 2019: 5 · 2018: 5 · 2017: 6 · 2016: 4 · 2015: 6 · 2014: 12 · 2013: 11 · 2012: 15
- FWCI
- 1.01
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Simons Foundation
- Autism Research Foundation
- Wellcome Trust
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- autism spectrum disorder, genetic susceptibility, heritability, behavioral phenotypes, developmental compensation, intellectual disability, chromosomal abnormalities, genetic mutations, environmental insults, sex differences
- MeSH terms
- Autistic Disorder, Female, Humans, Male, Intellectual Disability, Phenotype, Twins, Sex Distribution, Heredity
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
