@article{3094434,
    title = "Mapping autism risk loci using genetic linkage and chromosomal rearrangements",
    author = "Szatmari, P. and Paterson, A.D. and Zwaigenbaum, L. and Roberts, W. and Brian, J. and Liu, X.-Q. and Vincent, J.B. and Skaug, J.L. and Thompson, A.P. and Senman, L. and Feuk, L. and Qian, C. and Bryson, S.E. and Jones, M.B. and Marshall, C.R. and Scherer, S.W. and Vieland, V.J. and Bartlett, C. and Mangin, L.V. and Goedken, R. and Segre, A. and Pericak-Vance, M.A. and Cuccaro, M.L. and Gilbert, J.R. and Wright, H.H. and Abramson, R.K. and Betancur, C. and Bourgeron, T. and Gillberg, C. and Leboyer, M. and Buxbaum, J.D. and Davis, K.L. and Hollander, E. and Silverman, J.M. and Hallmayer, J. and Lotspeich, L. and Sutcliffe, J.S. and Haines, J.L. and Folstein, S.E. and Piven, J. and Wassink, T.H. and Sheffield, V. and Geschwind, D.H. and Bucan, M. and Brown, W.T. and Cantor, R.M. and Constantino, J.N. and Gilliam, T.C. and Herbert, M. and LaJonchere, C. and Ledbetter, D.H. and Lese-Martin, C. and Miller, J. and Nelson, S. and Samango-Sprouse, C.A. and Spence, S. and State, M. and Tanzi, R.E. and Coon, H. and Dawson, G. and Devlin, B. and Estes, A. and Flodman, P. and Klei, L. and McMahon, W.M. and Minshew, N. and Munson, J. and Korvatska, E. and Rodier, P.M. and Schellenberg, G.D. and Smith, M. and Spence, M.A. and Stodgell, C. and Tepper, P.G. and Wijsman, E.M. and Yu, C.-E. and Rogé, B. and Mantoulan, C. and Wittemeyer, K. and Poustka, A. and Felder, B. and Klauck, S.M. and Schuster, C. and Poustka, F. and Bölte, S. and Feineis-Matthews, S. and Herbrecht, E. and Schmötzer, G. and Tsiantis, J. and Papanikolaou, K. and Maestrini, E. and Bacchelli, E. and Blasi, F. and Carone, S. and Toma, C. and Van Engeland, H. and De Jonge, M. and Kemner, C. and Koop, F. and Langemeijer, M. and Hijimans, C. and Staal, W.G. and Baird, G. and Bolton, P.F. and Rutter, M.L. and Weisblatt, E. and Green, J. and Aldred, C. and Wilkinson, J.-A. and Pickles, A. and Le Couteur, A. and Berney, T. and McConachie, H. and Bailey, A.J. and Francis, K. and Honeyman, G. and Hutchinson, A. and Parr, J.R. and Wallace, S. and Monaco, A.P. and Barnby, G. and Kobayashi, K. and Lamb, J.A. and Sousa, I. and Sykes, N. and Cook, E.H. and Guter, S.J. and Leventhal, B.L. and Salt, J. and Lord, C. and Corsello, C. and Hus, V. and Weeks, D.E. and Volkmar, F. and Tauber, M. and Fombonne, E. and Shih, A.",
    journal = "Nature Genetics",
    year = "2007",
    volume = "39",
    number = "3",
    pages = "319-328",
    issn = "1061-4036, 1546-1718",
    doi = "10.1038/ng1985",
    keywords = "glutamic acid;  neurexin;  neuroligin, adult;  analytical equipment;  article;  autism;  chromosome 11p;  chromosome rearrangement;  controlled study;  family;  female;  gene locus;  gene mapping;  genetic analysis;  genetic linkage;  genetic risk;  genetic variability;  human;  major clinical study;  male;  microarray analysis;  priority journal;  sample size;  single nucleotide polymorphism;  synaptogenesis, Autistic Disorder;  Chromosome Aberrations;  Chromosome Mapping;  Family;  Female;  Genetic Predisposition to Disease;  Genetic Screening;  Humans;  Linkage (Genetics);  Lod Score;  Male;  Risk Factors;  Variation (Genetics)",
    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. © 2007 Nature Publishing Group."
}