{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T14:15:54Z","timestamp":1775916954085,"version":"3.50.1"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2011,10,14]],"date-time":"2011-10-14T00:00:00Z","timestamp":1318550400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1007\/s00439-011-1094-6","type":"journal-article","created":{"date-parts":[[2011,10,13]],"date-time":"2011-10-13T07:55:34Z","timestamp":1318492534000},"page":"565-579","source":"Crossref","is-referenced-by-count":175,"title":["A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder"],"prefix":"10.1007","volume":"131","author":[{"given":"Jillian P.","family":"Casey","sequence":"first","affiliation":[]},{"given":"Tiago","family":"Magalhaes","sequence":"additional","affiliation":[]},{"given":"Judith M.","family":"Conroy","sequence":"additional","affiliation":[]},{"given":"Regina","family":"Regan","sequence":"additional","affiliation":[]},{"given":"Naisha","family":"Shah","sequence":"additional","affiliation":[]},{"given":"Richard","family":"Anney","sequence":"additional","affiliation":[]},{"given":"Denis C.","family":"Shields","sequence":"additional","affiliation":[]},{"given":"Brett S.","family":"Abrahams","sequence":"additional","affiliation":[]},{"given":"Joana","family":"Almeida","sequence":"additional","affiliation":[]},{"given":"Elena","family":"Bacchelli","sequence":"additional","affiliation":[]},{"given":"Anthony J.","family":"Bailey","sequence":"additional","affiliation":[]},{"given":"Gillian","family":"Baird","sequence":"additional","affiliation":[]},{"given":"Agatino","family":"Battaglia","sequence":"additional","affiliation":[]},{"given":"Tom","family":"Berney","sequence":"additional","affiliation":[]},{"given":"Nadia","family":"Bolshakova","sequence":"additional","affiliation":[]},{"given":"Patrick F.","family":"Bolton","sequence":"additional","affiliation":[]},{"given":"Thomas","family":"Bourgeron","sequence":"additional","affiliation":[]},{"given":"Sean","family":"Brennan","sequence":"additional","affiliation":[]},{"given":"Phil","family":"Cali","sequence":"additional","affiliation":[]},{"given":"Catarina","family":"Correia","sequence":"additional","affiliation":[]},{"given":"Christina","family":"Corsello","sequence":"additional","affiliation":[]},{"given":"Marc","family":"Coutanche","sequence":"additional","affiliation":[]},{"given":"Geraldine","family":"Dawson","sequence":"additional","affiliation":[]},{"given":"Maretha","family":"de Jonge","sequence":"additional","affiliation":[]},{"given":"Richard","family":"Delorme","sequence":"additional","affiliation":[]},{"given":"Eftichia","family":"Duketis","sequence":"additional","affiliation":[]},{"given":"Frederico","family":"Duque","sequence":"additional","affiliation":[]},{"given":"Annette","family":"Estes","sequence":"additional","affiliation":[]},{"given":"Penny","family":"Farrar","sequence":"additional","affiliation":[]},{"given":"Bridget A.","family":"Fernandez","sequence":"additional","affiliation":[]},{"given":"Susan E.","family":"Folstein","sequence":"additional","affiliation":[]},{"given":"Suzanne","family":"Foley","sequence":"additional","affiliation":[]},{"given":"Eric","family":"Fombonne","sequence":"additional","affiliation":[]},{"given":"Christine M.","family":"Freitag","sequence":"additional","affiliation":[]},{"given":"John","family":"Gilbert","sequence":"additional","affiliation":[]},{"given":"Christopher","family":"Gillberg","sequence":"additional","affiliation":[]},{"given":"Joseph T.","family":"Glessner","sequence":"additional","affiliation":[]},{"given":"Jonathan","family":"Green","sequence":"additional","affiliation":[]},{"given":"Stephen J.","family":"Guter","sequence":"additional","affiliation":[]},{"given":"Hakon","family":"Hakonarson","sequence":"additional","affiliation":[]},{"given":"Richard","family":"Holt","sequence":"additional","affiliation":[]},{"given":"Gillian","family":"Hughes","sequence":"additional","affiliation":[]},{"given":"Vanessa","family":"Hus","sequence":"additional","affiliation":[]},{"given":"Roberta","family":"Igliozzi","sequence":"additional","affiliation":[]},{"given":"Cecilia","family":"Kim","sequence":"additional","affiliation":[]},{"given":"Sabine M.","family":"Klauck","sequence":"additional","affiliation":[]},{"given":"Alexander","family":"Kolevzon","sequence":"additional","affiliation":[]},{"given":"Janine A.","family":"Lamb","sequence":"additional","affiliation":[]},{"given":"Marion","family":"Leboyer","sequence":"additional","affiliation":[]},{"given":"Ann","family":"Le Couteur","sequence":"additional","affiliation":[]},{"given":"Bennett L.","family":"Leventhal","sequence":"additional","affiliation":[]},{"given":"Catherine","family":"Lord","sequence":"additional","affiliation":[]},{"given":"Sabata C.","family":"Lund","sequence":"additional","affiliation":[]},{"given":"Elena","family":"Maestrini","sequence":"additional","affiliation":[]},{"given":"Carine","family":"Mantoulan","sequence":"additional","affiliation":[]},{"given":"Christian R.","family":"Marshall","sequence":"additional","affiliation":[]},{"given":"Helen","family":"McConachie","sequence":"additional","affiliation":[]},{"given":"Christopher J.","family":"McDougle","sequence":"additional","affiliation":[]},{"given":"Jane","family":"McGrath","sequence":"additional","affiliation":[]},{"given":"William M.","family":"McMahon","sequence":"additional","affiliation":[]},{"given":"Alison","family":"Merikangas","sequence":"additional","affiliation":[]},{"given":"Judith","family":"Miller","sequence":"additional","affiliation":[]},{"given":"Fiorella","family":"Minopoli","sequence":"additional","affiliation":[]},{"given":"Ghazala K.","family":"Mirza","sequence":"additional","affiliation":[]},{"given":"Jeff","family":"Munson","sequence":"additional","affiliation":[]},{"given":"Stanley F.","family":"Nelson","sequence":"additional","affiliation":[]},{"given":"Gudrun","family":"Nygren","sequence":"additional","affiliation":[]},{"given":"Guiomar","family":"Oliveira","sequence":"additional","affiliation":[]},{"given":"Alistair T.","family":"Pagnamenta","sequence":"additional","affiliation":[]},{"given":"Katerina","family":"Papanikolaou","sequence":"additional","affiliation":[]},{"given":"Jeremy R.","family":"Parr","sequence":"additional","affiliation":[]},{"given":"Barbara","family":"Parrini","sequence":"additional","affiliation":[]},{"given":"Andrew","family":"Pickles","sequence":"additional","affiliation":[]},{"given":"Dalila","family":"Pinto","sequence":"additional","affiliation":[]},{"given":"Joseph","family":"Piven","sequence":"additional","affiliation":[]},{"given":"David J.","family":"Posey","sequence":"additional","affiliation":[]},{"given":"Annemarie","family":"Poustka","sequence":"additional","affiliation":[]},{"given":"Fritz","family":"Poustka","sequence":"additional","affiliation":[]},{"given":"Jiannis","family":"Ragoussis","sequence":"additional","affiliation":[]},{"given":"Bernadette","family":"Roge","sequence":"additional","affiliation":[]},{"given":"Michael L.","family":"Rutter","sequence":"additional","affiliation":[]},{"given":"Ana F.","family":"Sequeira","sequence":"additional","affiliation":[]},{"given":"Latha","family":"Soorya","sequence":"additional","affiliation":[]},{"given":"In\u00eas","family":"Sousa","sequence":"additional","affiliation":[]},{"given":"Nuala","family":"Sykes","sequence":"additional","affiliation":[]},{"given":"Vera","family":"Stoppioni","sequence":"additional","affiliation":[]},{"given":"Raffaella","family":"Tancredi","sequence":"additional","affiliation":[]},{"given":"Ma\u00eft\u00e9","family":"Tauber","sequence":"additional","affiliation":[]},{"given":"Ann P.","family":"Thompson","sequence":"additional","affiliation":[]},{"given":"Susanne","family":"Thomson","sequence":"additional","affiliation":[]},{"given":"John","family":"Tsiantis","sequence":"additional","affiliation":[]},{"given":"Herman","family":"Van Engeland","sequence":"additional","affiliation":[]},{"given":"John B.","family":"Vincent","sequence":"additional","affiliation":[]},{"given":"Fred","family":"Volkmar","sequence":"additional","affiliation":[]},{"given":"Jacob A. S.","family":"Vorstman","sequence":"additional","affiliation":[]},{"given":"Simon","family":"Wallace","sequence":"additional","affiliation":[]},{"given":"Kai","family":"Wang","sequence":"additional","affiliation":[]},{"given":"Thomas H.","family":"Wassink","sequence":"additional","affiliation":[]},{"given":"Kathy","family":"White","sequence":"additional","affiliation":[]},{"given":"Kirsty","family":"Wing","sequence":"additional","affiliation":[]},{"given":"Kerstin","family":"Wittemeyer","sequence":"additional","affiliation":[]},{"given":"Brian L.","family":"Yaspan","sequence":"additional","affiliation":[]},{"given":"Lonnie","family":"Zwaigenbaum","sequence":"additional","affiliation":[]},{"given":"Catalina","family":"Betancur","sequence":"additional","affiliation":[]},{"given":"Joseph D.","family":"Buxbaum","sequence":"additional","affiliation":[]},{"given":"Rita M.","family":"Cantor","sequence":"additional","affiliation":[]},{"given":"Edwin H.","family":"Cook","sequence":"additional","affiliation":[]},{"given":"Hilary","family":"Coon","sequence":"additional","affiliation":[]},{"given":"Michael L.","family":"Cuccaro","sequence":"additional","affiliation":[]},{"given":"Daniel H.","family":"Geschwind","sequence":"additional","affiliation":[]},{"given":"Jonathan L.","family":"Haines","sequence":"additional","affiliation":[]},{"given":"Joachim","family":"Hallmayer","sequence":"additional","affiliation":[]},{"given":"Anthony P.","family":"Monaco","sequence":"additional","affiliation":[]},{"suffix":"Jr.","given":"John I.","family":"Nurnberger","sequence":"additional","affiliation":[]},{"given":"Margaret A.","family":"Pericak-Vance","sequence":"additional","affiliation":[]},{"given":"Gerard D.","family":"Schellenberg","sequence":"additional","affiliation":[]},{"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[]},{"given":"James S.","family":"Sutcliffe","sequence":"additional","affiliation":[]},{"given":"Peter","family":"Szatmari","sequence":"additional","affiliation":[]},{"given":"Veronica J.","family":"Vieland","sequence":"additional","affiliation":[]},{"given":"Ellen M.","family":"Wijsman","sequence":"additional","affiliation":[]},{"given":"Andrew","family":"Green","sequence":"additional","affiliation":[]},{"given":"Michael","family":"Gill","sequence":"additional","affiliation":[]},{"given":"Louise","family":"Gallagher","sequence":"additional","affiliation":[]},{"given":"Astrid","family":"Vicente","sequence":"additional","affiliation":[]},{"given":"Sean","family":"Ennis","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2011,10,14]]},"reference":[{"key":"1094_CR1","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1016\/j.ajhg.2007.09.015","volume":"82","author":"DE Arking","year":"2008","unstructured":"Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, Chakravarti A (2008) A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82:160\u2013164","journal-title":"Am J Hum Genet"},{"key":"1094_CR2","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1007\/s00439-005-0114-9","volume":"119","author":"M Bahlo","year":"2006","unstructured":"Bahlo M, Stankovich J, Speed TP, Rubio JP, Burfoot RK, Foote SJ (2006) Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data. Hum Genet 119:38\u201350","journal-title":"Hum Genet"},{"key":"1094_CR3","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","volume":"21","author":"JC Barrett","year":"2005","unstructured":"Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263\u2013265","journal-title":"Bioinformatics"},{"key":"1094_CR4","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1038\/ng.329","volume":"41","author":"S Benko","year":"2009","unstructured":"Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 41:359\u2013364","journal-title":"Nat Genet"},{"key":"1094_CR5","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1016\/j.tins.2009.04.003","volume":"32","author":"C Betancur","year":"2009","unstructured":"Betancur C, Sakurai T, Buxbaum JD (2009) The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci 32:402\u2013412","journal-title":"Trends Neurosci"},{"key":"1094_CR6","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1016\/S0140-6736(03)12520-2","volume":"361","author":"LR Cardon","year":"2003","unstructured":"Cardon LR, Palmer LJ (2003) Population stratification and spurious allelic association. Lancet 361:598\u2013604","journal-title":"Lancet"},{"key":"1094_CR7","doi-asserted-by":"publisher","first-page":"1368","DOI":"10.1093\/hmg\/ddq013","volume":"19","author":"D Castermans","year":"2010","unstructured":"Castermans D, Volders K, Crepel A, Backx L, De Vos R, Freson K, Meulemans S, Vermeesch JR, Schrander-Stumpel CT, De Rijk P, Del-Favero J, Van Geet C, Van De Ven WJ, Steyaert JG, Devriendt K, Creemers JW (2010) SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Hum Mol Genet 19:1368\u20131378","journal-title":"Hum Mol Genet"},{"key":"1094_CR8","doi-asserted-by":"publisher","first-page":"1026","DOI":"10.1016\/j.neuropharm.2005.05.022","volume":"49","author":"Y Chen","year":"2005","unstructured":"Chen Y, Li M (2005) Interactions between CAP70 and actinfilin are important for integrity of actin cytoskeleton structures in neurons. Neuropharmacology 49:1026\u20131041","journal-title":"Neuropharmacology"},{"key":"1094_CR9","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1007\/s10571-009-9453-8","volume":"30","author":"SA Currenti","year":"2010","unstructured":"Currenti SA (2010) Understanding and determining the etiology of autism. Cell Mol Neurobiol 30:161\u2013171","journal-title":"Cell Mol Neurobiol"},{"key":"1094_CR10","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ng1933","volume":"39","author":"CM Durand","year":"2007","unstructured":"Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsater H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Roge B, Heron D, Burglen L, Gillberg C, Leboyer M, Bourgeron T (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39:25\u201327","journal-title":"Nat Genet"},{"key":"1094_CR11","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1051\/medsci\/200824125","volume":"24","author":"CM Durand","year":"2008","unstructured":"Durand CM, Chaste P, Fauchereau F, Betancur C, Leboyer M, Bourgeron T (2008) Alterations in synapsis formation and function in autism disorders. Med Sci (Paris) 24:25\u201328","journal-title":"Med Sci (Paris)"},{"key":"1094_CR12","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1016\/j.biochi.2007.10.007","volume":"90","author":"F Dutheil","year":"2008","unstructured":"Dutheil F, Beaune P, Loriot MA (2008) Xenobiotic metabolizing enzymes in the central nervous system: Contribution of cytochrome P450 enzymes in normal and pathological human brain. Biochimie 90:426\u2013436","journal-title":"Biochimie"},{"key":"1094_CR13","doi-asserted-by":"publisher","first-page":"12604","DOI":"10.1073\/pnas.0405077101","volume":"101","author":"MF Egan","year":"2004","unstructured":"Egan MF, Straub RE, Goldberg TE, Yakub I, Callicott JH, Hariri AR, Mattay VS, Bertolino A, Hyde TM, Shannon-Weickert C, Akil M, Crook J, Vakkalanka RK, Balkissoon R, Gibbs RA, Kleinman JE, Weinberger DR (2004) Variation in GRM3 affects cognition, prefrontal glutamate, and risk for schizophrenia. Proc Natl Acad Sci USA 101:12604\u201312609","journal-title":"Proc Natl Acad Sci USA"},{"key":"1094_CR14","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1159\/000230036","volume":"28","author":"A Feher","year":"2009","unstructured":"Feher A, Juhasz A, Rimanoczy A, Csibri E, Kalman J, Janka Z (2009) Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia. Dement Geriatr Cogn Disord 28:56\u201362","journal-title":"Dement Geriatr Cogn Disord"},{"key":"1094_CR15","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1002\/ajmg.b.30306","volume":"141B","author":"RH Flomen","year":"2006","unstructured":"Flomen RH, Collier DA, Osborne S, Munro J, Breen G, St Clair D, Makoff AJ (2006) Association study of CHRFAM7A copy number and 2\u00a0bp deletion polymorphisms with schizophrenia and bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 141B:571\u2013575","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"1094_CR16","doi-asserted-by":"publisher","first-page":"2225","DOI":"10.1126\/science.1069424","volume":"296","author":"SB Gabriel","year":"2002","unstructured":"Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296:2225\u20132229","journal-title":"Science"},{"key":"1094_CR17","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1111\/j.1471-8286.2004.00828.x","volume":"5","author":"J Goudet","year":"2005","unstructured":"Goudet J (2005) Hierfstat, a package for R to compute and test hierarchical F-statistics. Mol Ecol Notes 5:184\u2013186","journal-title":"Mol Ecol Notes"},{"key":"1094_CR18","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1056\/NEJMoa0805392","volume":"360","author":"FF Hamdan","year":"2009","unstructured":"Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Cote M, Perreau-Linck E, Carmant L, D\u2019Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafreniere RG, Lacaille JC, Rouleau GA, Michaud JL (2009) Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med 360:599\u2013605","journal-title":"N Engl J Med"},{"key":"1094_CR19","doi-asserted-by":"publisher","first-page":"e1000353","DOI":"10.1371\/journal.pgen.1000353","volume":"5","author":"F Hildebrandt","year":"2009","unstructured":"Hildebrandt F, Heeringa SF, Ruschendorf F, Attanasio M, Nurnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O\u2019Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Schoeb DS, Ovunc B, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nurnberg P, Otto EA (2009) A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet 5:e1000353","journal-title":"PLoS Genet"},{"key":"1094_CR20","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.molbrainres.2003.10.004","volume":"120","author":"J Hoshino","year":"2003","unstructured":"Hoshino J, Aruga J, Ishiguro A, Mikoshiba K (2003) Dorz1, a novel gene expressed in differentiating cerebellar granule neurons, is down-regulated in Zic1-deficient mouse. Brain Res Mol Brain Res 120:57\u201364","journal-title":"Brain Res Mol Brain Res"},{"key":"1094_CR21","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1086\/323264","volume":"69","author":"International Molecular Genetic Study of Autism Consortium (IMGSAC)","year":"2001","unstructured":"International Molecular Genetic Study of Autism Consortium (IMGSAC) (2001) A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 69:570\u2013581","journal-title":"Am J Hum Genet"},{"key":"1094_CR22","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1038\/sj.mp.4000979","volume":"7","author":"S Jamain","year":"2002","unstructured":"Jamain S, Betancur C, Quach H, Philippe A, Fellous M, Giros B, Gillberg C, Leboyer M, Bourgeron T (2002) Linkage and association of the glutamate receptor 6 gene with autism. Mol Psychiatry 7:302\u2013310","journal-title":"Mol Psychiatry"},{"key":"1094_CR23","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1016\/j.eurpsy.2004.04.017","volume":"19","author":"Y Jia","year":"2004","unstructured":"Jia Y, Yu X, Zhang B, Yuan Y, Xu Q, Shen Y (2004) No association between polymorphisms in three genes of cytochrome p450 family and paranoid schizophrenia in northern Chinese Han population. Eur Psychiatry 19:374\u2013376","journal-title":"Eur Psychiatry"},{"key":"1094_CR24","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1016\/j.ajhg.2007.09.011","volume":"82","author":"HG Kim","year":"2008","unstructured":"Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF (2008) Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 82:199\u2013207","journal-title":"Am J Hum Genet"},{"key":"1094_CR25","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1086\/426833","volume":"76","author":"DA Kleinjan","year":"2005","unstructured":"Kleinjan DA, van Heyningen V (2005) Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 76:8\u201332","journal-title":"Am J Hum Genet"},{"key":"1094_CR26","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1093\/hmg\/9.6.861","volume":"9","author":"JA Lamb","year":"2000","unstructured":"Lamb JA, Moore J, Bailey A, Monaco AP (2000) Autism: recent molecular genetic advances. Hum Mol Genet 9:861\u2013868","journal-title":"Hum Mol Genet"},{"key":"1094_CR27","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1038\/sj.mp.4001754","volume":"11","author":"MB Lauritsen","year":"2006","unstructured":"Lauritsen MB, Als TD, Dahl HA, Flint TJ, Wang AG, Vang M, Kruse TA, Ewald H, Mors O (2006) A genome-wide search for alleles and haplotypes associated with autism and related pervasive developmental disorders on the Faroe Islands. Mol Psychiatry 11:37\u201346","journal-title":"Mol Psychiatry"},{"key":"1094_CR28","doi-asserted-by":"publisher","first-page":"19942","DOI":"10.1073\/pnas.0710021104","volume":"104","author":"T Lencz","year":"2007","unstructured":"Lencz T, Lambert C, DeRosse P, Burdick KE, Morgan TV, Kane JM, Kucherlapati R, Malhotra AK (2007) Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia. Proc Natl Acad Sci USA 104:19942\u201319947","journal-title":"Proc Natl Acad Sci USA"},{"key":"1094_CR29","doi-asserted-by":"publisher","first-page":"1573","DOI":"10.1007\/s00702-008-0119-3","volume":"115","author":"KP Lesch","year":"2008","unstructured":"Lesch KP, Timmesfeld N, Renner TJ, Halperin R, Roser C, Nguyen TT, Craig DW, Romanos J, Heine M, Meyer J, Freitag C, Warnke A, Romanos M, Schafer H, Walitza S, Reif A, Stephan DA, Jacob C (2008) Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. J Neural Transm 115:1573\u20131585","journal-title":"J Neural Transm"},{"key":"1094_CR30","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1016\/j.biopsych.2008.05.023","volume":"64","author":"XQ Liu","year":"2008","unstructured":"Liu XQ, Paterson AD, Szatmari P (2008) Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biol Psychiatry 64:561\u2013570","journal-title":"Biol Psychiatry"},{"key":"1094_CR31","doi-asserted-by":"publisher","first-page":"506","DOI":"10.3109\/15622970902980788","volume":"11","author":"M Manchia","year":"2010","unstructured":"Manchia M, Viggiano E, Tiwari AK, Renou J, Jain U, De Luca V, Kennedy JL (2010) Smoking in adult attention-deficit\/hyperactivity disorder: interaction between 15q13 nicotinic genes and Temperament Character Inventory scores. World J Biol Psychiatry 11:506\u2013510","journal-title":"World J Biol Psychiatry"},{"key":"1094_CR32","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1002\/ajmg.b.30470","volume":"144B","author":"LF Martin","year":"2007","unstructured":"Martin LF, Leonard S, Hall MH, Tregellas JR, Freedman R, Olincy A (2007) Sensory gating and alpha-7 nicotinic receptor gene allelic variants in schizoaffective disorder, bipolar type. Am J Med Genet B Neuropsychiatr Genet 144B:611\u2013614","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"1094_CR34","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1086\/521275","volume":"81","author":"MM Motazacker","year":"2007","unstructured":"Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW (2007) A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet 81:792\u2013798","journal-title":"Am J Hum Genet"},{"key":"1094_CR35","doi-asserted-by":"publisher","first-page":"2927","DOI":"10.1093\/hmg\/ddq198","volume":"19","author":"M Nothnagel","year":"2010","unstructured":"Nothnagel M, Lu TT, Kayser M, Krawczak M (2010) Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans. Hum Mol Genet 19:2927\u20132935","journal-title":"Hum Mol Genet"},{"key":"1094_CR36","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/j.tins.2006.05.010","volume":"29","author":"AM Persico","year":"2006","unstructured":"Persico AM, Bourgeron T (2006) Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci 29:349\u2013358","journal-title":"Trends Neurosci"},{"key":"1094_CR37","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1093\/hmg\/8.5.805","volume":"8","author":"A Philippe","year":"1999","unstructured":"Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Van Maldergem L, Penet C, Feingold J, Brice A, Leboyer M (1999) Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet 8:805\u2013812","journal-title":"Hum Mol Genet"},{"key":"1094_CR38","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1038\/nature09146","volume":"466","author":"D Pinto","year":"2010","unstructured":"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, Bolte 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 et al (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466:368\u2013372","journal-title":"Nature"},{"key":"1094_CR39","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1038\/ng1847","volume":"38","author":"AL Price","year":"2006","unstructured":"Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904\u2013909","journal-title":"Nat Genet"},{"key":"1094_CR41","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559\u2013575","journal-title":"Am J Hum Genet"},{"key":"1094_CR42","doi-asserted-by":"publisher","first-page":"1448","DOI":"10.1523\/JNEUROSCI.3294-10.2011","volume":"31","author":"MD Rubio","year":"2011","unstructured":"Rubio MD, Johnson R, Miller CA, Huganir RL, Rumbaugh G (2011) Regulation of synapse structure and function by distinct myosin II motors. J Neurosci 31:1448\u20131460","journal-title":"J Neurosci"},{"key":"1094_CR43","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.neuron.2009.06.006","volume":"63","author":"S Sahara","year":"2009","unstructured":"Sahara S, O\u2019Leary DD (2009) Fgf10 regulates transition period of cortical stem cell differentiation to radial glia controlling generation of neurons and basal progenitors. Neuron 63:48\u201362","journal-title":"Neuron"},{"key":"1094_CR46","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1007\/s11055-008-9011-8","volume":"38","author":"NP Shugalev","year":"2008","unstructured":"Shugalev NP, Stavrovskaya AV, Ol\u2019shanskii AS, Hartmann G, Lenard L (2008) Serotoninergic mechanisms of the effects of neurotensin on passive avoidance behavior in rats. Neurosci Behav Physiol 38:517\u2013521","journal-title":"Neurosci Behav Physiol"},{"key":"1094_CR47","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.brainres.2009.07.041","volume":"1291","author":"ML Sinkus","year":"2009","unstructured":"Sinkus ML, Lee MJ, Gault J, Logel J, Short M, Freedman R, Christian SL, Lyon J, Leonard S (2009) A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia. Brain Res 1291:1\u201311","journal-title":"Brain Res"},{"key":"1094_CR48","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1038\/nature07456","volume":"455","author":"TC Sudhof","year":"2008","unstructured":"Sudhof TC (2008) Neuroligins and neurexins link synaptic function to cognitive disease. Nature 455:903\u2013911","journal-title":"Nature"},{"key":"1094_CR49","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1016\/j.biopsych.2009.07.027","volume":"66","author":"GW Tam","year":"2009","unstructured":"Tam GW, Redon R, Carter NP, Grant SG (2009) The role of DNA copy number variation in schizophrenia. Biol Psychiatry 66:1005\u20131012","journal-title":"Biol Psychiatry"},{"key":"1094_CR50","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1038\/nature02168","volume":"426","author":"The International HapMap Consortium","year":"2003","unstructured":"The International HapMap Consortium (2003) The International HapMap Project. Nature 426:789\u2013796","journal-title":"Nature"},{"key":"1094_CR51","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1002\/cne.21773","volume":"510","author":"LA Thomas","year":"2008","unstructured":"Thomas LA, Akins MR, Biederer T (2008) Expression and adhesion profiles of SynCAM molecules indicate distinct neuronal functions. J Comp Neurol 510:47\u201367","journal-title":"J Comp Neurol"},{"key":"1094_CR52","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1016\/S0378-3758(02)00388-9","volume":"117","author":"MJ Laan van der","year":"2002","unstructured":"van der Laan MJ, Pollard KS (2002) A new algorithm for hybrid hierarchical clustering with visualisation and the bootstrap. J Stat Plan Inference 117:275\u2013303","journal-title":"J Stat Plan Inference"},{"key":"1094_CR53","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1097\/YPG.0b013e32832a4faa","volume":"19","author":"AE Vine","year":"2009","unstructured":"Vine AE, McQuillin A, Bass NJ, Pereira A, Kandaswamy R, Robinson M, Lawrence J, Anjorin A, Sklar P, Gurling HM, Curtis D (2009) No evidence for excess runs of homozygosity in bipolar disorder. Psychiatr Genet 19:165\u2013170","journal-title":"Psychiatr Genet"},{"key":"1094_CR54","doi-asserted-by":"publisher","first-page":"20423","DOI":"10.1074\/jbc.M109412200","volume":"277","author":"W Wong","year":"2002","unstructured":"Wong W, Newell EW, Jugloff DG, Jones OT, Schlichter LC (2002) Cell surface targeting and clustering interactions between heterologously expressed PSD-95 and the Shal voltage-gated potassium channel, Kv4.2. J Biol Chem 277:20423\u201320430","journal-title":"J Biol Chem"},{"key":"1094_CR55","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.ijdevneu.2006.12.002","volume":"25","author":"MS Yang","year":"2007","unstructured":"Yang MS, Gill M (2007) A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence. Int J Dev Neurosci 25:69\u201385","journal-title":"Int J Dev Neurosci"},{"key":"1094_CR56","doi-asserted-by":"publisher","first-page":"3777","DOI":"10.1210\/jc.2009-1715","volume":"95","author":"TL Yang","year":"2010","unstructured":"Yang TL, Guo Y, Zhang LS, Tian Q, Yan H, Papasian CJ, Recker RR, Deng HW (2010) Runs of homozygosity identify a recessive locus 12q21.31 for human adult height. J Clin Endocrinol Metab 95:3777\u20133782","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"1094_CR100","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1534\/genetics.105.044206","volume":"171","author":"DV Zaykin","year":"2005","unstructured":"Zaykin DV, Zhivotovsky LA (2005) Ranks of genuine associations in whole-genome scans. Genetics 171(2):813\u2013823","journal-title":"Genetics"},{"key":"1094_CR57","doi-asserted-by":"publisher","first-page":"826","DOI":"10.1126\/science.1089071","volume":"302","author":"HY Zoghbi","year":"2003","unstructured":"Zoghbi HY (2003) Postnatal neurodevelopmental disorders: meeting at the synapse? Science 302:826\u2013830","journal-title":"Science"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-011-1094-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-011-1094-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-011-1094-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-011-1094-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T21:30:09Z","timestamp":1581975009000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-011-1094-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10,14]]},"references-count":54,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["1094"],"URL":"https:\/\/doi.org\/10.1007\/s00439-011-1094-6","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,10,14]]}}}