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1.	Szatmari, Peter, et al. (author) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 2007 In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 319-328 Journal article (peer-reviewed)abstract Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

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Type of publication: journal article (1)

Type of content: peer-reviewed (1)

Author/Editor: Bölte, Sven (1); Gillberg, Christophe ... (1); Leboyer, Marion (1); Feuk, Lars (1); Klei, Lambertus (1); Sykes, Nuala (1); show more...; Bacchelli, Elena (1); Bailey, Anthony J (1); Baird, Gillian (1); Berney, Tom (1); Bolton, Patrick F. (1); Bourgeron, Thomas (1); Brian, Jessica (1); Corsello, Christina (1); Dawson, Geraldine (1); de Jonge, Maretha (1); Estes, Annette (1); Folstein, Susan E (1); Fombonne, Eric (1); Green, Jonathan (1); Guter, Stephen J (1); Hus, Vanessa (1); Klauck, Sabine M (1); Lamb, Janine A (1); Le Couteur, Ann (1); Leventhal, Bennett L (1); Liu, Xiao-Qing (1); Lord, Catherine (1); Lotspeich, Linda (1); Maestrini, Elena (1); Mantoulan, Carine (1); Marshall, Christian ... (1); McConachie, Helen (1); McMahon, William M (1); Munson, Jeff (1); Papanikolaou, Kateri ... (1); Parr, Jeremy R (1); Pickles, Andrew (1); Piven, Joseph (1); Poustka, Annemarie (1); Poustka, Fritz (1); Roberts, Wendy (1); Roge, Bernadette (1); Rutter, Michael L (1); Salt, Jeff (1); Senman, Lili (1); Sousa, Inês (1); Thompson, Ann P (1); Tsiantis, John (1); Van Engeland, Herman (1); show less...

University: University of Gothenburg (1)

Language: English (1)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

Year: 2007 (1)

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