A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p
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Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes.
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Many proposals have been made to address ADI-R/ADOS discordance or to loosen ADI-R criteria so that they cover a wider ASD spectrum than Autistic Disorder.
“There have been numerous proposals to resolve ADI-R and ADOS discordance or relax ADI-R criteria to include the broader spectrum of ASD in addition to the formerly defined Autistic Disorder (IMGSAC 2001; Risi et al. 2006; Sung et al. 2005).”
From Using standardized diagnostic instruments to classify children with autism in the study to explore early development (2015) · cites this paper as IMGSAC 2001
A genome-wide study of whole-blood 5-HT as a quantitative trait demonstrated associations with Slc6a4.
“A genome-wide study of whole-blood 5-HT as a quantitative trait demonstrated associations with Slc6a4 [49]”
From Serotonin as a link between the gut-brain-microbiome axis in autism spectrum disorders (2018) · cites this paper as [49]
Cites
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
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
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
Lander, E. S., & Kruglyak, L. (1995) · Nature Genetics · doi:10.1038/ng1195-241 · Cited by 5,196 · see citing works
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679 · see citing works
A comprehensive genetic map of the human genome based on 5,264 microsatellites
Dib, C., Fauré, S., Fizames, C., Samson, D. S., Drouot, N., Alain Vignal, A., Millasseau, P., Marc, S., Kazan, J., Seboun, E., et al. (1996) · Nature · doi:10.1038/380152a0 · Cited by 2,927 · 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
Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L., & Schopler, E. (1989) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02211841 · Cited by 2,030 · 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 · cited 3× · see citing works
“In three same-sex twin studies, concordance for autism in MZ pairs varied between 36% and 91%, compared with 0% in DZ pairs (Folstein and Rutter 1977; Steffenburg 1991; Bailey et al. 1995), leading to an estimated heritability of 190% (Bailey et al. 1995).”
BackgroundResultInfluential(2012) · Springer eBooks · doi:10.1007/springerreference_183812 · Cited by 1,218 · see citing works
The epidemiology of autism: a review
FOMBONNE, E. (1999) · Psychological Medicine · doi:10.1017/s0033291799008508 · Cited by 981 · see citing works
Peabody Picture Vocabulary Test
Henninger, N. (2010) · Springer eBooks · doi:10.1007/978-0-387-79948-3_1581 · Cited by 936 · see citing works
Reduced hippocampal LTP and spatial learning in mice lacking NMDA receptor ε1 subunit
Sakimura, K., Kutsuwada, T., Ito, I., Manabe, T., Takayama, C., Kushiya, E., Yagi, T., Aizawa, S., Inoue, Y., Sugiyama, H., et al. (1995) · Nature · doi:10.1038/373151a0 · Cited by 859 · 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
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 Human Linkage Map with Centimorgan Density
Murray, J. C., Buetow, K. H., Weber, J. L., Ludwigsen, S., Scherpbier-Heddema, T., Manion, F. J., Quillen, J., Sheffield, V. C., Sunden, S. L. F., Duyk, G. M., et al. (1994) · Science · doi:10.1126/science.8091227 · Cited by 535 · see citing works
Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01048239 · Cited by 518 · see citing works
Leavitt, V. M., & Weber, E. (2018) · Springer eBooks · doi:10.1007/978-3-319-57111-9_1068 · Cited by 488 · 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
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
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
Cox, N. J., Frigge, M., Nicolae, D. L., CONCANNON, P. J., Hanis, C. L., Bell, G. I., & Kong, A. (1999) · Nature Genetics · doi:10.1038/6002 · Cited by 378 · see citing works
Asymptotic properties of affected-sib-pair linkage analysis.
Holmans, P. (1993) · PubMed · Cited by 370 · see citing works
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
Cook, E. H., Courchesne, R. Y., Cox, N. J., Lord, C., Gonen, D., Guter, S. J., Lincoln, A., Nix, K., Haas, R., Leventhal, B. L., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301832 · Cited by 369 · see citing works
Zerucha, T., Stühmer, T., Hatch, G., Park, B. K., Long, Q., Yu, G. K., Gambarotta, A., Schultz, J. R., Rubenstein, J. L. R., & Ekker, M. (2000) · Journal of Neuroscience · doi:10.1523/jneurosci.20-02-00709.2000 · Cited by 360 · 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
Chromosome–specific microsatellite sets for fluorescence–based, semi–automated genome mapping
Reed, P., Davies, J. L., Copeman, J. B., Bennett, S. T., Palmer, S. M., Pritchard, L. E., Gough, S. C. L., Kawaguchi, Y., Cordell, H. J., Balfour, K. M., et al. (1994) · Nature Genetics · doi:10.1038/ng0794-390 · Cited by 302 · 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
Replication of Linkage Studies of Complex Traits: An Examination of Variation in Location Estimates
Roberts, S. B., MacLean, C. J., Neale, M. C., Eaves, L. J., & Kendler, K. S. (1999) · The American Journal of Human Genetics · doi:10.1086/302528 · Cited by 274 · 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
Plexin/neuropilin complexes mediate repulsion by the axonal guidance signal semaphorin 3A
Rohm, B., Ottemeyer, A., Lohrum, M. A. E., & Püschel, A. W. (2000) · Mechanisms of Development · doi:10.1016/s0925-4773(00)00269-0 · Cited by 249 · see citing works
Genetics of Autism: Overview and New Directions
Szatmari, P., Jones, M. B., Zwaigenbaum, L., & MacLean, J. E. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026096203946 · Cited by 249 · 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
Polygenic disease: methods for mapping complex disease traits
Weeks, D. E., & Lathrop, G. M. (1995) · Trends in Genetics · doi:10.1016/s0168-9525(00)89163-5 · Cited by 230 · see citing works
Lai, 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
Smalley, S. L. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026052421693 · Cited by 203 · 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
Mega2: data-handling for facilitating genetic linkage and association analyses
Mukhopadhyay, N., Almasy, L. A., Schroeder, M., Mulvihill, W. P., & Weeks, D. E. (2005) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bti364 · Cited by 189 · see citing works
A Multipoint Method for Detecting Genotyping Errors and Mutations in Sibling-Pair Linkage Data
Douglas, J. A., Boehnke, M., & Lange, K. L. (2000) · The American Journal of Human Genetics · doi:10.1086/302861 · Cited by 180 · see citing works
Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q
International Molecular Genetic Study of Autism Consortium (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.9.973 · Cited by 175 · see citing works
Construction of a GT polymorphism map of human 9q
Kwiatkowski, D. J., Henske, E. P., Weimer, K., Ozelius, L. J., Gusella, J. F., & Haines, J. L. (1992) · Genomics · doi:10.1016/0888-7543(92)90370-8 · Cited by 166 · see citing works
Autism: recent molecular genetic advances
Lamb, J. A. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.6.861 · Cited by 163 · see citing works
Neuropsychiatric Assessmenit of Children with Autism: A Population‐Based Study
Steffenburg, S. (1991) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1991.tb14915.x · Cited by 128 · see citing works
Holmans, P., & Clayton, D. G. (1995) · PubMed · Cited by 106 · 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
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
Blagitko, N., Schulz, U., Schinzel, A., Ropers, H., & Kalscheuer, V. M. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.13.2387 · Cited by 81 · see citing works
Hallmayer, J. F. (1996) · Archives of General Psychiatry · doi:10.1001/archpsyc.1996.01830110021003 · Cited by 64 · see citing works
Hallmayer, J. F., Pintado, E., Lotspeich, L. J., Spiker, D., McMahon, W., Petersen, P. B., Nicholas, P., Pingree, C., KRAEMER, H. C., & Wong, D. L. (1994) · PubMed Central · Cited by 60 · see citing works
Raay, T. J. V., Foskett, S. M., Connors, T. D., Klinger, K. W., Landes, G. M., & Burn, T. C. (1997) · Genomics · doi:10.1006/geno.1997.4659 · Cited by 56 · see citing works
Barr, C., Wigg, K., Wu, J., Zai, C., Bloom, S., Tannock, R., Roberts, W., Malone, M., Schachar, R., & Kennedy, J. L. (2000) · American journal of medical genetics · doi:10.1002/(sici)1096-8628(20000207)96:1 · Cited by 53 · see citing works
Mutation screening of the UBE3A /E6-AP gene in autistic disorder
Veenstra-VanderWeele, J. M., Gonen, D., LEVENTHAL, B. L., & Cook, E. (1999) · Molecular Psychiatry · doi:10.1038/sj.mp.4000472 · Cited by 50 · see citing works
Arolt, V., Lencer, R., Purmann, S., Sch�rmann, M., M�ller-Myhsok, B., Krecker, K., & SCHWINGER, E. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991215)88:6 · Cited by 46 · see citing works
Genetic clues to the biological basis of autism
Turner, M., Barnby, G., & Bailey, A. J. (2000) · Molecular Medicine Today · doi:10.1016/s1357-4310(00)01712-3 · Cited by 44 · see citing works
Evaluating pedigree data. I. The estimation of pedigree error in the presence of marker mistyping.
Lathrop, M. G., Hooper, A., Huntsman, J., & Ward, R. H. (1983) · PubMed · Cited by 41 · see citing works
Lim, H. H., Michael, G. J., Smith, P. R., Lim, L., & Hall, C. (1992) · Biochemical Journal · doi:10.1042/bj2870415 · Cited by 33 · see citing works
Construction of a Physical and Transcript Map Flanking the Imprinted MEST/PEG1 Region at 7q32
Hayashida, S., Yamasaki, K., Asada, Y., Soeda, E., Niikawa, N., & Kishino, T. (2000) · Genomics · doi:10.1006/geno.2000.6206 · Cited by 30 · see citing works
Lathrop, M. G., Huntsman, J. W., Hooper, A. B., & Ward, R. H. (1983) · Human Heredity · doi:10.1159/000153406 · Cited by 24 · see citing works
Burn, T. C., Connors, T. D., Raay, T. J. V., Dackowski, W. R., Millholland, J. M., Klinger, K. W., & Landes, G. M. (1996) · Genome Research · doi:10.1101/gr.6.6.525 · Cited by 24 · see citing works
Autism and the x-chromosome: Multipoint SIB pair analysis
Halmayer, J., Hebert, J. M., Spiker, D., Lotspeich, L. J., McMahon, W. M., Petersen, P. B., Nicholas, P., Pingree, C., Lin, A. A., RISCH, N. J., et al. (1996) · Biological Psychiatry · doi:10.1016/0006-3223(96)84092-3 · Cited by 17 · see citing works
The Impact of Transmission-Ratio Distortion on Allele Sharing in Affected Sibling Pairs
Greenwood, C. M. T., & Morgan, K. W. (2000) · The American Journal of Human Genetics · doi:10.1086/302918 · Cited by 16 · see citing works
Murrell, J. R., Trofatter, J. A., Rutter, M., Cutone, S., Stotler, C., Rutter, J. L., Long, K., Turner, A. K., Deaven, L. L., Buckler, A., et al. (1995) · Genomics · doi:10.1016/0888-7543(95)80109-y · Cited by 15 · see citing works
Physical and cDNA Mapping in the DBH Region of Human Chromosome 9q34
Gilbert, J. R., Kumar, A., Newey, S. E., Rao, N. P., Ioannou, P. A., Qiu, H., Lin, D., Xu, P., Pettenati, M. J., & Pericak‐Vance, M. A. (2000) · Human Heredity · doi:10.1159/000022905 · Cited by 6 · see citing works
Flagged first, then by citations
6 of the 72 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Identification and Evaluation of Children With Autism Spectrum Disorders
Johnson, C. P., Myers, S. M., & and the Council on Children With Disabilities (2007) · Pediatrics · doi:10.1542/peds.2007-2361 · Cited by 2,011 · see citing works
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866 · see citing works
Neuroscience of attention-deficit/hyperactivity disorder: the search for endophenotypes
Castellanos, F. X., & Tannock, R. (2002) · Nature Reviews Neuroscience · doi:10.1038/nrn896 · Cited by 1,827 · 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
Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder
Dawson, G. (2008) · Development and Psychopathology · doi:10.1017/s0954579408000370 · Cited by 1,138 · see citing works
Hippocampal GABAergic Inhibitory Interneurons
Pelkey, K. A., Chittajallu, R., Craig, M. T., Tricoire, L., Wester, J. C., & McBain, C. J. (2017) · Physiological Reviews · doi:10.1152/physrev.00007.2017 · Cited by 889 · see citing works
Autism and the pervasive developmental disorders
Volkmar, F. R., & Klin, A. (2012) · doi:10.1093/med/9780199696758.003.0214 · Cited by 931 · 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
Genetics of austim: complex aetiology for a heterogeneous disorder
Folstein, S. E., & Rosen-Sheidley, B. (2001) · Nature Reviews Genetics · doi:10.1038/35103559 · Cited by 771 · see citing works
Identifying autism loci and genes by tracing recent shared ancestry
Morrow, E. M., Yoo, S.-Y., Flavell, S. W., Kim, T.-K., Lin, Y., Hill, R. S., Mukaddes, N. M., Balkhy, S., Gascon, G., Hashmi, A., et al. (2008) · Science · doi:10.1126/science.1157657 · Cited by 737 · 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
Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome
Horike, S., Cai, S., Miyano, M., Cheng, J., & Kohwi-shigematsu, T. (2004) · Nature Genetics · doi:10.1038/ng1491 · Cited by 585 · see citing works
Combining Information From Multiple Sources in the Diagnosis of Autism Spectrum Disorders
RISI, S., LORD, C., GOTHAM, K., CORSELLO, C., CHRYSLER, C., SZATMARI, P., COOK, E. H., LEVENTHAL, B. L., & PICKLES, A. (2006) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000227880.42780.0e · Cited by 581 · see citing works
Genetic Causes and Modifiers of Autism Spectrum Disorder
Rylaarsdam, L. E., & Guemez‐Gamboa, A. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00385 · Cited by 575 · see citing works
RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice
Miyashiro, K. Y., Beckel-Mitchener, A., Purk, T. P., Becker, K. G., Barret, T., Liu, L., Carbonetto, S., Weiler, I. J., Greenough, W. T., & Eberwine, J. (2003) · Neuron · doi:10.1016/s0896-6273(03)00034-5 · Cited by 495 · see citing works
Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
Sullivan, P. F., & Geschwind, D. H. (2019) · Cell · doi:10.1016/j.cell.2019.01.015 · Cited by 452 · see citing works
Serotonin Transporter: Gene, Genetic Disorders, and Pharmacogenetics
Murphy, D. L. (2004) · Molecular Interventions · doi:10.1124/mi.4.2.8 · Cited by 444 · 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
Samaco, R. C., Hogart, A., & LaSalle, J. M. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi045 · Cited by 420 · see citing works
Evidence-Based Assessment of Autism Spectrum Disorders in Children and Adolescents
Ozonoff, S. J., Goodlin‐Jones, B. L., & Solomon, M. (2005) · Journal of Clinical Child & Adolescent Psychology · doi:10.1207/s15374424jccp3403_8 · Cited by 417 · 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
Ma, D. Q., Whitehead, P. L., Menold, M. M., Martin, E. R., Ashley‐Koch, A. E., Mei, H., Ritchie, M. D., DeLong, G. R., Abramson, R. K., Wright, H. H., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/433195 · Cited by 355 · 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
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.004 · Cited by 324 · see citing works
Veenstra-VanderWeele, J., Muller, C. L., Iwamoto, H., Sauer, J. E., Owens, W. A., Shah, C. R., Cohen, J., Mannangatti, P., Jessen, T., Thompson, B. J., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1112345109 · Cited by 333 · see citing works
A unified genetic theory for sporadic and inherited autism
Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., Law, P., Qiu, S., Lord, C., Sebat, J., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705803104 · Cited by 319 · see citing works
Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications
Yip, J., Soghomonian, J.-J., & Blatt, G. J. (2007) · Acta Neuropathologica · doi:10.1007/s00401-006-0176-3 · Cited by 303 · see citing works
Autism: A “Critical Period” Disorder?
LeBlanc, J. J., & Fagiolini, M. (2011) · Neural Plasticity · doi:10.1155/2011/921680 · Cited by 301 · see citing works
Sodium channels SCN1A, SCN2A and SCN3A in familial autism
Weiss, L. A., Escayg, A., Kearney, J. A., Trudeau, M., MacDonald, B. T., Mori, M., Reichert, J. G., Buxbaum, J. D., & Meisler, M. H. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001241 · Cited by 294 · see citing works
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.
Fisher, S. E., Francks, C., McCracken, J. T., McGough, J. J., Marlow, A., MacPhie, I. L., Newbury, D., Crawford, L., Palmer, C. G. S., Woodward, J., et al. (2002) · American Journal of Human Genetics · doi:10.1086/340112 · Cited by 318 · see citing works
Volkmar, F. R., & Pauls, D. L. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14471-6 · Cited by 288 · see citing works
Lessons learned from studying syndromic autism spectrum disorders
Sztainberg, Y., & Zoghbi, H. Y. (2016) · Nature Neuroscience · doi:10.1038/nn.4420 · Cited by 286 · 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
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
AUTISM AS A PARADIGMATIC COMPLEX GENETIC DISORDER
Veenstra-VanderWeele, J. M., Christian, S. L., & Cook, E. H. (2004) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.5.061903.180050 · Cited by 271 · 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
Johnson, K. A., Robertson, I. H., Kelly, S. P., Silk, T. J., Barry, E., Dáibhis, A., Watchorn, A., Keavey, M., Fitzgerald, M., Gallagher, L., et al. (2007) · Neuropsychologia · doi:10.1016/j.neuropsychologia.2007.02.019 · Cited by 259 · see citing works
Deary, I. J., Spinath, F. M., & Bates, T. C. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201588 · Cited by 254 · see citing works
Smalley, S. L., Kustanovich, V., Minassian, S. L., Stone, J. L., Ogdie, M. N., McGough, J. J., McCracken, J. T., MacPhie, I. L., Francks, C., Fisher, S. E., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/342732 · Cited by 240 · see citing works
Levitt, P., & Campbell, D. B. (2009) · Journal of Clinical Investigation · doi:10.1172/jci37934 · Cited by 234 · see citing works
The pathophysiology of restricted repetitive behavior
Lewis, M. H., & Kim, S. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9019-6 · Cited by 233 · see citing works
Murphy, D. L., Fox, M. A., Timpano, K. R., Moya, P. R., Ren‐Patterson, R. F., Andrews, A. M., Holmes, A., Lesch, K., & Wendland, J. R. (2008) · Neuropharmacology · doi:10.1016/j.neuropharm.2008.08.034 · Cited by 235 · see citing works
Veridical mapping in the development of exceptional autistic abilities
Mottron, L., Bouvet, L., Bonnel, A., Samson, F., Burack, J. A., Dawson, M., & Heaton, P. F. (2012) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2012.11.016 · Cited by 233 · see citing works
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
Genetics and epigenetics of autism spectrum disorder—current evidence in the field
Wiśniowiecka‐Kowalnik, B., & Nowakowska, B. (2019) · Journal of Applied Genetics · doi:10.1007/s13353-018-00480-w · Cited by 235 · see citing works
Sarachana, T., Zhou, R., Chen, G., Manji, H. K., & Hu, V. W. (2010) · Genome Medicine · doi:10.1186/gm144 · Cited by 229 · see citing works
A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1
Ma, D., Salyakina, D., Jaworski, J. M., Konidari, I., Whitehead, P. L., Andersen, A. N., Hoffman, J. D., Slifer, S. H., Hedges, D. J., Cukier, H. N., et al. (2009) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2009.00523.x · Cited by 221 · see citing works
The ups and downs of Wnt signaling in prevalent neurological disorders
Ferrari, G. V. D., & Moon, R. T. (2006) · Oncogene · doi:10.1038/sj.onc.1210064 · Cited by 221 · see citing works
Ogdie, M. N., Macphie, I. L., Minassian, S. L., Yang, M., Fisher, S. E., Francks, C., Cantor, R. M., McCracken, J. T., McGough, J. J., Nelson, S. F., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375139 · Cited by 220 · 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
Toward a developmental neurobiology of autism
Polleux, F., & Lauder, J. M. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20044 · Cited by 216 · see citing works
Molecular genetics of autism spectrum disorder
Veenstra-VanderWeele, J. M., & Cook, E. H. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001505 · Cited by 220 · see citing works
FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific Language Impairment
Newbury, D. F., Bonora, E., Lamb, J. A., Fisher, S. E., Lai, C. S. L., Baird, G., Jannoun, L., Slonims, V., Stott, C., Merricks, M. J., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339931 · Cited by 218 · see citing works
Copy number variations in neurodevelopmental disorders
Grayton, H. M., Fernandes, C., Rujescu, D., & Collier, D. A. (2012) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2012.07.005 · Cited by 210 · see citing works
Intracellular cAMP Sensor EPAC: Physiology, Pathophysiology, and Therapeutics Development
Robichaux, W. G., & Cheng, X. (2018) · Physiological Reviews · doi:10.1152/physrev.00025.2017 · Cited by 208 · see citing works
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses
Won, H., Mah, W., & Kim, E. (2013) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2013.00019 · Cited by 204 · 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
Recent Advances in the Genetics of Autism
Gupta, A. R., & State, M. W. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.06.020 · Cited by 203 · see citing works
Outcomes in Autism Spectrum Disorders
Howlin, P. (2005) · Wiley eBooks · doi:10.1002/9780470939345.ch7 · Cited by 201 · see citing works
Martin, C. L., Duvall, J. A., Ilkin, Y., Simon, J. S., Arreaza, M. G., Wilkes, K., Alvarez‐Retuerto, A., Whichello, A., Powell, C. M., Rao, K., et al. (2007) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30530 · Cited by 198 · see citing works
Casey, J. P., Magalhaes, T., Conroy, J. M., Regan, R., Shah, N., Anney, R., Shields, D. C., Abrahams, B. S., Almeida, J., Bacchelli, E., et al. (2012) · Human Genetics · doi:10.1007/s00439-011-1094-6 · Cited by 200 · see citing works
Hu, V. W., Frank, B. C., Heine, S. J., Lee, N. H., & Quackenbush, J. F. (2006) · BMC Genomics · doi:10.1186/1471-2164-7-118 · Cited by 200 · 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
Disruption of cerebral cortex MET signaling in autism spectrum disorder
Campbell, D. B., D'Oronzio, R., Garbett, K., Ebert, P. J., Mirnics, K., Levitt, P., & Persico, A. M. (2007) · Annals of Neurology · doi:10.1002/ana.21180 · Cited by 193 · see citing works
Rojas, D. C. (2014) · Journal of Neural Transmission · doi:10.1007/s00702-014-1216-0 · Cited by 191 · 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
Asher, J. E., Lamb, J. A., Brocklebank, D., Cazier, J., Maestrini, E., Addis, L., Sen, M., Baron‐Cohen, S., & Monaco, A. P. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.01.012 · Cited by 185 · see citing works
Decreased left perisylvian GABA concentration in children with autism and unaffected siblings
Rojas, D. C., Singel, D., Steinmetz, S. E., Hepburn, S., & Brown, M. S. (2013) · NeuroImage · doi:10.1016/j.neuroimage.2013.01.045 · Cited by 185 · 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
Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia
Feuk, L., Kalervo, A., Lipsanen‐Nyman, M., Skaug, J., Nakabayashi, K., Finucane, B. M., Hartung, D., Innes, A. M., Kerem, B., Nowaczyk, M. J. M., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/508902 · Cited by 186 · see citing works
Garg, S., Lehtonen, A., Huson, S., Emsley, R., Trump, D., Evans, D. G., & Green, J. (2012) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.12043 · Cited by 182 · see citing works
Santangelo, S. L., & Tsatsanis, K. (2005) · American Journal of PharmacoGenomics · doi:10.2165/00129785-200505020-00001 · Cited by 183 · see citing works
Barnby, G., Abbott, A., Sykes, N., Morris, A. P., Weeks, D. E., Mott, R., Lamb, J. A., Bailey, A. J., & Monaco, A. P. (2005) · The American Journal of Human Genetics · doi:10.1086/430454 · Cited by 180 · see citing works
Prasad, H. C., Zhu, C.-B., McCauley, J. L., Samuvel, D. J., Ramamoorthy, S., Shelton, R. C., Hewlett, W. A., Sutcliffe, J. S., & Blakely, R. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501432102 · Cited by 180 · see citing works
Laumonnier, F., Roger, S., Guérin, P., Molinari, F., Mrad, R., Cahard, D., Belhadj, A., Halayem, M. B., Persico, A. M., Elia, M., et al. (2006) · American Journal of Psychiatry · doi:10.1176/ajp.2006.163.9.1622 · Cited by 180 · see citing works
A 15q13.3 microdeletion segregating with autism
Pagnamenta, A. T., Wing, K., Akha, E. S., Knight, S. J. L., Bölte, S., Schmötzer, G., Duketis, E., Poustka, F., Klauck, S. M., Poustka, A., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.228 · Cited by 174 · see citing works
Nicholas, B., Rudrasingham, V., Nash, S., Kirov, G., Owen, M. J., & Wimpory, D. C. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001953 · Cited by 170 · see citing works
Accuracy of phenotyping of autistic children based on internet implemented parent report
Lee, H., Marvin, A. R., Watson, T., Piggot, J., Law, J. K., Law, P. A., Constantino, J. N., & Nelson, S. F. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31103 · Cited by 171 · see citing works
Campbell, D. B., Datta, D., Jones, S. T., Batey Lee, E., Sutcliffe, J. S., Hammock, E. A. D., & Levitt, P. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9071-2 · Cited by 170 · see citing works
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
The Genetics of Autism: Key Issues, Recent Findings, and Clinical Implications
El-Fishawy, P., & State, M. W. (2010) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2009.12.002 · Cited by 166 · 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
Genetic advances in autism: heterogeneity and convergence on shared pathways
Bill, B. R., & Geschwind, D. H. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.04.004 · Cited by 164 · see citing works
Herman, G. E., Butter, E. M., Enrile, B. G., Pastore, M., Prior, T. W., & Sommer, A. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31619 · Cited by 160 · see citing works
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
Tangled webs: Tracing the connections between genes and cognition
Fisher, S. E. (2006) · Cognition · doi:10.1016/j.cognition.2006.04.004 · Cited by 155 · see citing works
Kim, S.-J., Cox, N. J., Yeung-Courchesne, R., Lord, C., Corsello, C. M., Akshoomoff, N., Guter, S. J., LEVENTHAL, B. L., Courchesne, E., & Cook, E. H. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001033 · Cited by 150 · see citing works
Autism genetics: strategies, challenges, and opportunities
O'Roak, B. J., & State, M. W. (2008) · Autism Research · doi:10.1002/aur.3 · Cited by 150 · see citing works
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
Wiggins, L. D., Reynolds, A., Rice, C. E., Moody, E. J., Bernal, P., Blaskey, L., Rosenberg, S. A., Lee, L.-C., & Levy, S. E. (2015) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2287-3 · Cited by 145 · see citing works
Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism
van der Zwaag, B., Franke, L., Poot, M., Hochstenbach, R., Spierenburg, H. A., Vorstman, J. A. S., van Daalen, E., de Jonge, M. V., Verbeek, N. E., Brilstra, E. H., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005324 · Cited by 144 · see citing works
IMGSAC, Maestrini, E., Pagnamenta, A. T., Lamb, J. A., Bacchelli, E., Sykes, N. H., Sousa, I., Toma, C., Barnby, G., Butler, H., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.34 · Cited by 143 · see citing works
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
Hahn, M. K., & Blakely, R. (2002) · The Pharmacogenomics Journal · doi:10.1038/sj.tpj.6500106 · Cited by 142 · see citing works
Sex-specific genetic architecture of whole blood serotonin levels
Weiss, L. A., Abney, M., Cook, E. H., & Ober, C. (2005) · The American Journal of Human Genetics · doi:10.1086/426697 · Cited by 137 · 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
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
Mouse models of autism spectrum disorders: The challenge for behavioral genetics
Moy, S. S., Nadler, J. J., Magnuson, T., & Crawley, J. N. (2006) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30081 · Cited by 135 · see citing works
Sarachana, T., & Hu, V. W. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-14 · Cited by 135 · see citing works
- Authors
- *
- Corresponding author
- *
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-09
- Volume
- 69
- Issue
- 3
- Pages
- 570-581
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1235486
- OpenAlex
- W2290802694
- Cited by
- 453
- References
- 72
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 5 · 2019: 6 · 2018: 7 · 2017: 5 · 2016: 11 · 2015: 16 · 2014: 12 · 2013: 25 · 2012: 15
- FWCI
- 17.84
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Funders
- Fondazione Telethon (E.1007)
- Natur og Univers, Det Frie Forskningsråd (9802210)
- National Institutes of Health (MO1 RR06022, K05 MH01196, K02 MH01389)
- Wellcome Trust
- National Institute of Child Health and Human Development (5-P01-HD-35482)
- Medical Research Council
- Deutsche Forschungsgemeinschaft
- Sundhed og Sygdom, Det Frie Forskningsråd
- Conseil Régional Midi-Pyrénées
- 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 › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, genetic linkage, susceptibility genes, sib-pair analysis, chromosome 2q, chromosome 7q, chromosome 16p, chromosome 17q, allele sharing, candidate regions
- MeSH terms
- Alleles, Autistic Disorder, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 7, Genetic Testing, Humans, Molecular Sequence Data, Genetic Predisposition to Disease
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