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
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