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
2009
A genome-wide linkage and association scan reveals novel loci for autism
Daly M, Chakravarti A, Arking D, Brune C, West K, O’Connor A, Hilton G, Tomlinson R, West A, Cook Jr E, Chakravarti A, Weiss L, Green T, Chang S, Gabriel S, Gates C, Hanson E, Kirby A, Korn J, Kuruvilla F, McCarroll S, Morrow E, Neale B, Purcell S, Sasanfar R, Sougnez C, Stevens C, Altshuler D, Gusella J, Santangelo S, Sklar P, Tanzi R, Daly M, Anney R, Bailey A, Baird G, Battaglia A, Berney T, Betancur C, Bölte S, Bolton P, Brian J, Bryson S, Buxbaum J, Cabrito I, Cai G, Cantor R, Cook Jr E, Coon H, Conroy J, Correia C, Corsello C, Crawford E, Cuccaro M, Dawson G, de Jonge M, Devlin B, Duketis E, Ennis S, Estes A, Farrar P, Fombonne E, Freitag C, Gallagher L, Geschwind D, Gilbert J, Gill M, Gillberg C, Goldberg J, Green A, Green J, Guter S, Haines J, Hallmayer J, Hus V, Klauck S, Korvatska O, Lamb J, Laskawiec M, Leboyer M, Le Couteur A, Leventhal B, Liu X, Lord C, Lotspeich L, Maestrini E, Magalhaes T, Mahoney W, Mantoulan C, McConachie H, McDougle C, McMahon W, Marshall C, Miller J, Minshew N, Monaco A, Munson J, Nurnberger Jr J, Oliveira G, Pagnamenta A, Papanikolaou K, Parr J, Paterson A, Pericak-Vance M, Pickles A, Pinto D, Piven J, Posey D, Poustka A, Poustka F, Regan R, Reichert J, Renshaw K, Roberts W, Roge B, Rutter M, Salt J, Schellenberg G, Scherer S, Sheffield V, Sutcliffe J, Szatmari P, Tansey K, Thompson A, Tsiantis J, Van Engeland H, Vicente A, Vieland V, Volkmar F, Wallace S, Wassink T, Wijsman E, Wing K, Wittemeyer K, Yaspan B, Zwaigenbaum L, Morrow E, Yoo S, Sean Hill R, Mukaddes N, Balkhy S, Gascon G, Al-Saad S, Hashmi A, Ware J, Joseph R, LeClair E, Partlow J, Barry B, Walsh C, Pauls D, Moilanen I, Ebeling H, Mattila M, Kuusikko S, Jussila K, Ignatius J, Sasanfar R, Tolouei A, Ghadami M, Rostami M, Hosseinipour A, Valujerdi M, Santangelo S, Andresen K, Winkloski B, Haddad S, Kunkel L, Kohane Z, Tran T, Won Kong S, O’Neil S, Hanson E, Hundley R, Holm I, Peters H, Baroni E, Cangialose A, Jackson L, Albers L, Becker R, Bridgemohan C, Friedman S, Munir K, Nazir R, Palfrey J, Schonwald A, Simmons E, Rappaport L, Gauthier J, Mottron L, Joober R, Fombonne E, Rouleau G, Rehnstrom K, von Wendt L, Peltonen L. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009, 461: 802-808. PMID: 19812673, PMCID: PMC2772655, DOI: 10.1038/nature08490.Peer-Reviewed Original ResearchConceptsGenome-wide SNPsSusceptibility genesGenome-wide linkageGenome-wide scanSpecific susceptibility genesAutism susceptibility genesExpression of SEMA5AHeritable neurodevelopmental disorderAssociation scanNovel lociChromosome 5p15Multiplex autism familiesLinkage regionAutism familiesSignificant linkageNovel associationsGenesSEMA5ARare variationNeurodevelopmental disordersCommon setLociSNPsExpressionTAS2R1