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  • Abrahams BS, Geschwind DH. 2008. Advances in autism genetics: On the threshold of a new neurobiology. Nat Rev Genet 9(5): 341355.
  • Akin Sari B, Karaer K, Bodur S, Soysal AS. 2008. Case report: Autistic disorder in Kabuki syndrome. J Autism Dev Disord 38(1): 198201.
  • Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, et al. 2010. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 19(20): 40724082.
  • Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, Chakravarti A. 2009. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82(1): 160164.
  • Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, Griffing AR, Cote M, Henrion E, Spiegelman D, Tarabeux J, et al. 2010. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet 87(3): 316324.
  • Bradley WE, Raelson JV, Dubois DY, Godin E, Fournier H, Prive C, Allard R, Pinchuk V, Lapalme M, Paulussen RJ, et al. 2010. Hotspots of large rare deletions in the human genome. PLoS ONE 5(2): e9401.
  • Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, et al. 2007. Replicating genotype-phenotype associations. Nature 447(7145): 655660.
  • Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, et al. 2008. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry 63(12): 11111117.
  • Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, Kelsoe J, Lehner T, Levinson DF, Moran A, Sklar P, et al. 2009. Genomewide association studies: History, rationale, and prospects for psychiatric disorders. Am J Psychiatry 166(5): 540556.
  • Cirulli ET, Goldstein DB. 2010. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 11(6): 415425.
  • Coon H, Villalobos ME, Robison RJ, Camp NJ, Cannon DS, Allen-Brady K, Miller JS, McMahon WM. 2010. Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees. Mol Autism 1(1): 8.
  • El-Fishawy P, State MW. 2010. The genetics of autism: Key issues, recent findings, and clinical implications. Psychiatr Clin North Am 33(1): 83105.
  • Freitag CM. 2007. The genetics of autistic disorders and its clinical relevance: A review of the literature. Mol Psychiatry 12(1): 222.
  • Gauthier J, Spiegelman D, Piton A, Lafreniere RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, et al. 2009. Novel de novo SHANK3 mutation in autistic patients. Am J Med Genet Part B 150B(3): 421424.
  • Glaser RL, Broman KW, Schulman RL, Eskenazi B, Wyrobek AJ, Jabs EW. 2003. The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. Am J Hum Genet 73(4): 939947.
  • Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, et al. 2009. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459(7246): 569573.
  • Ho HH, Eaves LC. 1997. Kabuki make-up (Niikawa-Kuroki) syndrome: Cognitive abilities and autistic features. Dev Med Child Neurol 39(7): 487490.
  • Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, et al. 2008. Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. J Med Genet 45(7): 479480.
  • Larsen FW, Mouridsen SE. 1997. The outcome in children with childhood autism and Asperger syndrome originally diagnosed as psychotic. A 30-year follow-up study of subjects hospitalized as children. Eur Child Adolesc Psychiatry 6(4): 181190.
  • Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, Schopler E. 1989. Autism diagnostic observation schedule: A standardized observation of communicative and social behavior. J Autism Dev Disord 19(2): 185212.
  • Lord C, Rutter M, Le Couteur A. 1994. Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24(5): 659685.
  • Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, Hoffman JD, Slifer SH, Hedges DJ, Cukier HN, Griswold AJ, McCauley JL, Beecham GW, Wright HH, Abramson RK, Martin ER, Hussman JP, Gilbert JR, Cuccaro ML, Haines JL, Pericak-Vance MA. 2009. A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet 73(Pt 3): 263273.
  • Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, et al. 2007. The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet 44(9): 562569.
  • Magi R, Morris AP. 2010. GWAMA: Software for genome-wide association meta-analysis. BMC Bioinformatics 11: 288.
  • Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. 2009. Finding the missing heritability of complex diseases. Nature 461(7265): 747753.
  • Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, et al. 2008. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82(2): 477488.
  • Mazefsky CA, Oswald DP. 2006. The discriminative ability and diagnostic utility of the ADOS-G, ADI-R, and GARS for children in a clinical setting. Autism 10(6): 533549.
  • Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, et al. 2010. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86(5): 749764.
  • Pawitan Y, Seng KC, Magnusson PK. 2009. How many genetic variants remain to be discovered? PLoS ONE 4(12): e7969.
  • Peterson RE, Maes HH, Holmans P, Sanders AR, Levinson DF, Shi J, Kendler KS, Gejman PV, Webb BT. 2011. Genetic risk sum score comprised of common polygenic variation is associated with body mass index. Hum Genet 129(2): 221230.
  • Purcell S, Cherny SS, Sham PC. 2003. Genetic power calculator: Design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19(1): 149150.
  • Ralston SH. 2010. Genetics of osteoporosis. Ann NY Acad Sci 1192: 181189.
  • Redden DT, Allison DB. 2003. Nonreplication in genetic association studies of obesity and diabetes research. J Nutr 133(11): 33233326.
  • Reichenberg A, Gross R, Weiser M, Bresnahan M, Silverman J, Harlap S, Rabinowitz J, Shulman C, Malaspina D, Lubin G. and others. 2006. Advancing paternal age and autism. Arch Gen Psychiatry 63(9): 10261032.
  • Risch N, Merikangas K. 1996. The future of genetic studies of complex human diseases. Science 273(5281): 15161517.
  • Ronald A, Butcher LM, Docherty S, Davis OS, Schalkwyk LC, Craig IW, Plomin R. 2010. A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500K SNP microarrays and both community and diagnosed autism replication samples. Behav Genet 40(1): 3145.
  • Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, et al. 2007. Strong association of de novo copy number mutations with autism. Science 316(5823): 445449.
  • Skuse DH. 2007. Rethinking the nature of genetic vulnerability to autistic spectrum disorders. Trends Genet 23(8): 387395.
  • Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Allen HL, Lindgren CM, Luan J, Magi R, et al. 2011. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 42(11): 937948.
  • Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, et al. 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39(3): 319328.
  • Uher R. 2009. The role of genetic variation in the causation of mental illness: An evolution-informed framework. Mol Psychiatry 12(12): 10721082.
  • Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, et al. 2009. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459(7246): 528533.
  • Weiss LA, Arking DE, Daly MJ, Chakravarti A. 2009. A genome-wide linkage and association scan reveals novel loci for autism. Nature 461(7265): 802808.
  • Xu B, Woodroffe A, Rodriguez-Murillo L, Roos JL, van Rensburg EJ, Abecasis GR, Gogos JA, Karayiorgou M. 2009. Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. Proc Natl Acad Sci USA 106(39): 1674616751.