2010
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger Jr J, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, 466: 368-372. PMID: 20531469, PMCID: PMC3021798, DOI: 10.1038/nature09146.Peer-Reviewed Original ResearchConceptsUnderlying genetic determinantsRare copy number variationsCopy number variationsNovel genesWide analysisIndividual genomesASD candidatesCopy numberNumber variationsGenetic determinantsCellular proliferationFunctional impactDe novoGenomeGenesGeneticsDNAPathwayNovoMotilityProliferationAutism spectrum disorder
2007
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Szatmari P, Paterson A, Zwaigenbaum L, Roberts W, Brian J, Liu X, Vincent J, Skaug J, Thompson A, Senman L, Feuk L, Qian C, Bryson S, Jones M, Marshall C, Scherer S, Vieland V, Bartlett C, Mangin L, Goedken R, Segre A, Pericak-Vance M, Cuccaro M, Gilbert J, Wright H, Abramson R, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum J, Davis K, Hollander E, Silverman J, Hallmayer J, Lotspeich L, Sutcliffe J, Haines J, Folstein S, Piven J, Wassink T, Meyer K, Sheffield V, Geschwind D, Bucan M, Brown W, Cantor R, Constantino J, Gilliam T, Herbert M, LaJonchere C, Ledbetter D, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse C, Spence S, State M, Tanzi R, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon W, Minshew N, Munson J, Korvatska E, Rodier P, Schellenberg G, Smith M, Spence M, Stodgell C, Tepper P, Wijsman E, Yu C, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck S, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemeijer M, Hijmans C, Staal W, Baird G, Bolton P, Rutter M, Weisblatt E, Green J, Aldred C, Wilkinson J, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey A, Francis K, Honeyman G, Hutchinson A, Parr J, Wallace S, Monaco A, Barnby G, Kobayashi K, Lamb J, Sousa I, Sykes N, Cook E, Guter S, Leventhal B, Salt J, Lord C, Corsello C, Hus V, Weeks D, Volkmar F, Tauber M, Fombonne E, Shih A. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics 2007, 39: 319-328. PMID: 17322880, PMCID: PMC4867008, DOI: 10.1038/ng1985.Peer-Reviewed Original ResearchConceptsAffymetrix 10K SNP arrayGenetic architecture of autism spectrum disorderArchitecture of autism spectrum disorderCopy number variation analysisK SNP arrayCopy number variationsLinkage scanGenetic architectureRisk lociChromosomal rearrangementsGenetic linkageNumber variationsGlutamate-related genesGlutamatergic synaptogenesisNeurexinAffected individualsLociHeritable neurodevelopmental conditionCopyLinkageVariation analysisAutism spectrum disorderChromosomeNeuroliginAffymetrix