Autism: the quest for the genes

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works

Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065 · see citing works

Untitled work

(1943) · The Nervous child · Cited by 8,870 · see citing works

The Autism Diagnostic Observation Schedule—Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism

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

The International HapMap Project

†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057 · see citing works

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990 · see citing works

Finishing the euchromatic sequence of the human genome

International Human Genome Sequencing Consortium (2004) · Nature · doi:10.1038/nature03001 · Cited by 4,971 · see citing works

Global variation in copy number in the human genome

Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,276 · 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

The Wellcome Trust Case Control Consortium, U.K.

Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714 · 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

Die „Autistischen Psychopathen” im Kindesalter

Asperger, H. (1944) · Archiv für Psychiatrie und Nervenkrankheiten · doi:10.1007/bf01837709 · Cited by 2,163 · see citing works

Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)

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

Structural variation in the human genome

Feuk, L., Carson, A. R., & Scherer, S. W. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1767 · Cited by 2,051 · 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

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

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

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

Finland, G. O. T. 1. D. I., Todd, J. A., the Wellcome Trust Case Control Consortium, Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., et al. (2007) · Nature Genetics · doi:10.1038/ng2068 · Cited by 1,456 · 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

DNA methylation profiling of human chromosomes 6, 20 and 22

Eckhardt, F., Lewin, J., Cortese, R., Rakyan, V. K., Attwood, J., Burger, M., Burton, J. H., Cox, T. V., Davies, R., Down, T. A., et al. (2006) · Nature Genetics · doi:10.1038/ng1909 · Cited by 1,350 · see citing works

Describing the Sensory Abnormalities of Children and Adults with Autism

Leekam, S. R., Nieto, C., Libby, S. J., Wing, L., & Gould, J. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0218-7 · Cited by 1,140 · 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

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

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline <i>PTEN</i> tumour suppressor gene mutations

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

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

The Broad Autism Phenotype Questionnaire

Hurley, R. S. E., Losh, M. C., Parlier, M., Reznick, J. S., & Piven, J. (2006) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0299-3 · Cited by 669 · see citing works

Untitled work

(1997) · PubMed · Cited by 645 · see citing works

Mapping complex disease loci in whole-genome association studies

Carlson, C. S., Eberle, M. A., Kruglyak, L., & Nickerson, D. A. (2004) · Nature · doi:10.1038/nature02623 · Cited by 616 · see citing works

Parent Reports of Sensory Symptoms in Toddlers with Autism and Those with Other Developmental Disorders

Rogers, S. J., Hepburn, S., & Wehner, E. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/b:jadd.0000006000.38991.a7 · Cited by 609 · see citing works

The complex interplay among factors that influence allelic association

Zondervan, K. T., & Cardon, L. R. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1270 · Cited by 571 · see citing works

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

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

A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome

Wong, K. K. Y., deLeeuw, R. J., Dosanjh, N. S., Kimm, L. R., Cheng, Z., Horsman, D. E., MacAulay, C. E., Ng, R. T., Brown, C. J., Eichler, E. E., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/510560 · Cited by 518 · see citing works

The endophenotype concept in psychiatric genetics

FLINT, J., & MUNAFÒ, M. R. (2007) · Psychological Medicine · doi:10.1017/s0033291706008750 · 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

Autism: The Phenotype in Relatives

Bailey, A. J., Palferman, S., Heavey, L., & Couteur, A. S. L. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026048320785 · Cited by 453 · 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

Autism as a disorder of neural information processing: Directions for research and targets for therapy

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

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

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

Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors

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

Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism.

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

Highly parallel genomic assays

Fan, J., Chee, M. S., & Gunderson, K. L. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1901 · Cited by 383 · see citing works

Overcoming the Winner’s Curse: Estimating Penetrance Parameters from Case-Control Data

Zöllner, S. K., & Pritchard, J. K. (2007) · The American Journal of Human Genetics · doi:10.1086/512821 · Cited by 382 · 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

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

Neurochemical correlates of autistic disorder: a review of the literature

Lam, K. S. L., Aman, M. G., & Arnold, L. E. (2006) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2005.03.003 · Cited by 318 · see citing works

Genetics and Child Psychiatry: II Empirical Research Findings

Rutter, M. L., Silberg, J. L., O’Connor, T. G., & Simonoff, E. A. (1999) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00423 · Cited by 313 · 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

The hyper-systemizing, assortative mating theory of autism

Baron-Cohen, S. (2006) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2006.01.010 · Cited by 287 · see citing works

Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism

Skuse, D. H. (2000) · Pediatric Research · doi:10.1203/00006450-200001000-00006 · Cited by 285 · see citing works

MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin

Trappe, R. U., Laccone, F. A., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F. A., & Engel, W. (2001) · The American Journal of Human Genetics · doi:10.1086/320109 · Cited by 282 · see citing works

Reelin signaling is impaired in autism

Fatemi, S. H., Snow, A. V., Stary, J. M., Araghi-Niknam, M., Reutiman, T. J., Lee, S., Brooks, A. I., & Pearce, D. A. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2004.12.018 · Cited by 280 · see citing works

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways †

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

Autism Spectrum Disorders: Early Detection, Intervention, Education, and Psychopharmacological Management

Bryson, S. E., Rogers, S. J., & Fombonne, E. J. (2003) · The Canadian Journal of Psychiatry · doi:10.1177/070674370304800802 · Cited by 275 · see citing works

Evidence for a Language Quantitative Trait Locus on Chromosome 7q in Multiplex Autism Families

Alarcón, M., Cantor, R. M., Liu, J., Gilliam, T. C., & Geschwind, D. H. (2002) · The American Journal of Human Genetics · doi:10.1086/338241 · Cited by 271 · see citing works

High frequency of neurexin 1β signal peptide structural variants in patients with autism

Feng, J., Schroer, R. J., Jin, Y., Song, W., Yang, C., Bockholt, A., Cook, E. H., Skinner, C. D., Schwartz, C. E., & Sommer, S. S. (2006) · Neuroscience Letters · doi:10.1016/j.neulet.2006.08.017 · Cited by 271 · see citing works

Maternal infection: window on neuroimmune interactions in fetal brain development and mental illness

Patterson, P. H. (2002) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(02)00299-4 · Cited by 269 · see citing works

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

Buxbaum, J. D., Cai, G., Chaste, P., Nygren, G., Goldsmith, J., Reichert, J. G., Anckarsäter, H. S., Råstam, M., Smith, C. J., Silverman, J. M., et al. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30493 · Cited by 269 · see citing works

A Genomewide Screen of 345 Families for Autism-Susceptibility Loci

Yonan, A. L., Alarcón, M., Cheng, R., Magnusson, P. K. E., Spence, S. J., Palmer, A. A., Grunn, A., Juo, S. H., Terwilliger, J. D., Liu, J., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/378778 · Cited by 266 · see citing works

MMR vaccination and pervasive developmental disorders: a case-control study

Smeeth, L., Cook, C., Fombonne, E., Heavey, L., Rodrigues, L. C., Smith, P. G., & Hall, A. J. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17020-7 · Cited by 263 · 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

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

Shaking the tree: mapping complex disease genes with linkage disequilibrium

Palmer, L. J., & Cardon, L. R. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67485-5 · Cited by 234 · see citing works

A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

Auranen, M., Vanhala, R., Varilo, T., Ayers, K. L., Kempas, E., Ylisaukko‐oja, T., Sinsheimer, J. S., Peltonen, L., & Järvelä, I. E. (2002) · The American Journal of Human Genetics · doi:10.1086/342720 · Cited by 233 · see citing works

Prenatal, Perinatal, and Neonatal Factors in Autism, Pervasive Developmental Disorder-Not Otherwise Specified, and the General Population

Juul-Dam, N., Townsend, J., & Courchesne, E. (2001) · PEDIATRICS · doi:10.1542/peds.107.4.e63 · Cited by 230 · see citing works

Association of polymorphism of serotonin 2A receptor gene with suicidal ideation in major depressive disorder

Du, L., Bakish, D., Lapierre, Y. D., Ravindran, A. V., & Hrdina, P. D. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000207)96:1 · Cited by 229 · see citing works

The Economic Impact of Autism in Britain

Järbrink, K., & Knapp, M. R. J. (2001) · Autism · doi:10.1177/1362361301005001002 · Cited by 212 · see citing works

Completing the map of human genetic variation

The Human Genome Structural Variation Working Group, Eichler, E. E., Nickerson, D. A., Altshuler, D., Bowcock, A. M., Brooks, L., Carter, N. P., Church, D. M., Felsenfeld, A. L., Guyer, M. S., et al. (2007) · Nature · doi:10.1038/447161a · Cited by 211 · see citing works

Linkage and Association of the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene With Autism

Ramoz, N., Reichert, J. G., Smith, C. J., Silverman, J. M., Bespalova, I. N., Davis, K. L., & Buxbaum, J. D. (2004) · American Journal of Psychiatry · doi:10.1176/appi.ajp.161.4.662 · Cited by 206 · see citing works

Analysis of the RELN gene as a genetic risk factor for autism

Skaar, D. A., Shao, Y., Haines, J. L., Stenger, J. E., Jaworski, J. M., Martin, E. R., DeLong, G. R., Moore, J. H., McCauley, J. L., Sutcliffe, J. S., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001614 · Cited by 197 · see citing works

A proteomic study of serum from children with autism showing differential expression of apolipoproteins and complement proteins

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

Maternal administration of thalidomide or valproic acid causes abnormal serotonergic neurons in the offspring: implication for pathogenesis of autism

Miyazaki, K., Narita, N., & Narita, M. (2004) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2004.05.004 · Cited by 195 · see citing works

Autism and the serotonin transporter: the long and short of it

Devlin, B., Cook, E. H., Coon, H. H., Dawson, G., Grigorenko, E. L., McMahon, W., Minshew, N. J., Pauls, D. L., Smith, M., Spence, M. A., et al. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001724 · Cited by 187 · see citing works

Molecular Cloning of Aralar, a New Member of the Mitochondrial Carrier Superfamily That Binds Calcium and Is Present in Human Muscle and Brain

del Arco, A., & Satrústegui, J. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.36.23327 · Cited by 177 · see citing works

Evidence for Sex-Specific Risk Alleles in Autism Spectrum Disorder

Stone, J. L., Merriman, B., Cantor, R. M., Yonan, A. L., Gilliam, T. C., Geschwind, D. H., & Nelson, S. F. (2004) · The American Journal of Human Genetics · doi:10.1086/426034 · Cited by 176 · 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

Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates

McCauley, J. L., Li, C., Jiang, L., Olson, L. M., Crockett, G., Gainer, K., Folstein, S. E., Haines, J. L., & Sutcliffe, J. S. (2005) · BMC Medical Genetics · doi:10.1186/1471-2350-6-1 · Cited by 168 · see citing works

Evidence 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

Reelin gene alleles and susceptibility to autism spectrum disorders

Zhang, H., Liu, X., Zhang, C., Mundo, E., Macciardi, F. M., Grayson, D. R., Guidotti, A. R., & Holden, J. J. A. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001124 · Cited by 167 · see citing works

5-HTTLPR Genotype-Specific Phenotype in Children and Adolescents With Autism

Brune, C. W., Kim, S., Salt, J., LEVENTHAL, B. L., Lord, C., & Cook, E. H. (2006) · American Journal of Psychiatry · doi:10.1176/ajp.2006.163.12.2148 · Cited by 163 · see citing works

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly

Herman, G. E., Butter, E. M., Enrile, B. G., Pastore, M., Prior, T. W., & Sommer, A. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31619 · Cited by 160 · see citing works

Replication of Autism Linkage: Fine-Mapping Peak at 17q21

Cantor, R. M., Kono, N., Duvall, J. A., Alvarez-Retuerto, A., Stone, J. L., Alarcón, M., Nelson, S. F., & Geschwind, D. H. (2005) · The American Journal of Human Genetics · doi:10.1086/430278 · Cited by 157 · see citing works

Imbalanced genomic imprinting in brain development: an evolutionary basis for the aetiology of autism

Badcock, C., & Crespi, B. J. (2006) · Journal of Evolutionary Biology · doi:10.1111/j.1420-9101.2006.01091.x · Cited by 148 · 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

Linkage analysis for autism in a subset families with obsessive–compulsive behaviors: Evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19

Buxbaum, J. D., Silverman, J. M., Keddache, M. A., Smith, C. J. W., Hollander, E., Ramoz, N., & Reichert, J. G. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001465 · Cited by 143 · see citing works

Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid‐compulsive subset of autism

McCauley, J. L., Olson, L. M., Dowd, M., Amin, T. T., Steele, A., Blakely, R., Folstein, S. E., Haines, J. L., & Sutcliffe, J. S. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20151 · Cited by 136 · see citing works

A heterogeneity-based genome search meta-analysis for autism-spectrum disorders

Trikalinos, T. A., Karvouni, A., Zintzaras, E., Ylisaukko‐oja, T., Peltonen, L., Järvelä, I. E., & Ioannidis, J. P. A. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001750 · Cited by 136 · see citing works

Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects

Lamb, J. A., Barnby, G., Bonora, E., Sykes, N., Bacchelli, E., Blasi, F., Maestrini, E., Broxholme, J., Tzenova, J., Weeks, D., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.025668 · Cited by 133 · see citing works

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

Analysis of reelin as a candidate gene for autism

Bonora, E., Beyer, K. S., Lamb, J. A., Parr, J. R., Klauck, S. M., Benner, A., Paolucci, M., Abbott, A., Ragoussis, J., Poustka, A., et al. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001310 · Cited by 127 · see citing works

Regional meta-analysis of published data supports linkage of autism with markers on chromosome 7

Badner, J. A., & Gershon, E. S. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4000922 · Cited by 126 · see citing works

Parental origin of de novo MECP2 mutations in Rett syndrome

Girard, M., Couvert, P., Carrié, A., Tardieu, M., Chelly, J., Beldjord, C., & Bienvenu, T. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200618 · Cited by 124 · see citing works

Lack of evidence for an association between WNT2 and RELN polymorphisms and autism

Li, J. Z., Nguyen, L., Gleason, C., Lotspeich, L. J., Spiker, D., RISCH, N. J., & Myers, R. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20122 · Cited by 113 · see citing works

Absence of association between a polymorphic GGC repeat in the 5′ untranslated region of the reelin gene and autism

Krebs, M., Betancur, C., Leroy, S., Bourdel, M., Gillberg, C., & Leboyer, M. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001071 · Cited by 107 · see citing works

Serotonin transporter gene and autism: a haplotype analysis in an Irish autistic population

Conroy, J., Meally, E., Kearney, G., Fitzgerald, M., Gill, M., & Gallagher, L. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001459 · Cited by 104 · 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

Confirmation of Association Between Autism and the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene on Chromosome 2q31

Segurado, R., Conroy, J., Meally, E., Fitzgerald, M., Gill, M., & Gallagher, L. (2005) · American Journal of Psychiatry · doi:10.1176/appi.ajp.162.11.2182 · Cited by 98 · see citing works

Establishment of genetic associations for complex diseases is independent of early study findings

Trikalinos, T. A., Ntzani, E., Contopoulos‐Ioannidis, D. G., & Ioannidis, J. P. A. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201227 · Cited by 93 · see citing works

Epigenetic variation and inheritance in mammals

Rakyan, V. K., & Beck, S. (2006) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2006.09.002 · 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

Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network

Devlin, B., Bennett, P. J., Dawson, G., Figlewicz, D. A., Grigorenko, E. L., McMahon, W., Minshew, N. J., Pauls, D. L., Smith, M., Spence, M. A., et al. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20125 · Cited by 83 · see citing works

Power to Detect Linkage Based on Multiple Sets of Data in the Presence of Locus Heterogeneity: Comparative Evaluation of Model-Based Linkage Methods for Affected Sib Pair Data

Vieland, V. J., Wang, K., & Huang, J. (2001) · Human Heredity · doi:10.1159/000053343 · Cited by 69 · see citing works

Autism spectrum disorders: Molecular genetic advances

Bacchelli, E., & Maestrini, E. (2006) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30078 · Cited by 67 · see citing works

Lack of Evidence for Association of the Serotonin Transporter Gene SLC6A4 with Autism

Ramoz, N., Reichert, J. G., Corwin, T. E., Smith, C. J., Silverman, J. M., Hollander, E., & Buxbaum, J. D. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.01.009 · Cited by 64 · see citing works

MMR-vaccine and regression in autism spectrum disorders: negative results presented from Japan

Uchiyama, T., Kurosawa, M., & Inaba, Y. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0157-3 · Cited by 58 · see citing works

SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample

Blasi, F., Bacchelli, E., Carone, S., Claudio Toma, A., Monaco, A. P., Bailey, A. J., & Maestrini, E. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201444 · 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

Lack of Association Between Autism and SLC25A12

Rabionet, R., McCauley, J. L., Jaworski, J. M., Ashley‐Koch, A. E., Martin, E. R., Sutcliffe, J. S., Haines, J. L., DeLong, G. R., Abramson, R. K., Wright, H. H., et al. (2006) · American Journal of Psychiatry · doi:10.1176/ajp.2006.163.5.929 · Cited by 41 · see citing works

Proteomic Approach for the Elucidation of Biological Defects in Autism

Junaid, M. A., & Pullarkat, R. K. (2001) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1013242910574 · Cited by 28 · see citing works

Accumulating quantitative trait linkage evidence across multiple datasets using the posterior probability of linkage

Bartlett, C. W., & Vieland, V. J. (2006) · Genetic Epidemiology · doi:10.1002/gepi.20193 · Cited by 26 · see citing works

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature · doi:10.1038/nature07999 · Cited by 989 · see citing works

Autism spectrum disorder: neuropathology and animal models

Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536 · see citing works

The ‘Fractionable Autism Triad’: A Review of Evidence from Behavioural, Genetic, Cognitive and Neural Research

Happé, F., & Ronald, A. (2008) · Neuropsychology Review · doi:10.1007/s11065-008-9076-8 · Cited by 498 · see citing works

Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis

Walsh, K. M., & Bracken, M. B. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182076c0c · Cited by 65 · see citing works

[Neurocognitive endophenotypes in psychiatric genetics].

Kótyuk, E., Sasvári‐Székely, M., & Székely, A. (2014) · PubMed

Supplemental Material for A Meta-Analytic Evaluation of the Endophenotype Hypothesis: Effects of Measurement Paradigm in the Psychiatric Genetics of Impulsivity

(2014) · Journal of Abnormal Psychology · doi:10.1037/a0037094.supp

International HapMap Project

National Cancer Institute (2020) · Definitions · doi:10.32388/f4olbl · Cited by 227 · see citing works

Genomic Cartography — Presenting the HapMap

Phimister, E. G. (2005) · New England Journal of Medicine · doi:10.1056/nejmp058255 · Cited by 10 · see citing works

Alcoholism

Edenberg, H. J. (2012) · Cambridge University Press eBooks · doi:10.1017/cbo9781139025997.023