{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T06:02:02Z","timestamp":1791180122178,"version":"4.1.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"3-4","license":[{"start":{"date-parts":[[2007,1,9]],"date-time":"2007-01-09T00:00:00Z","timestamp":1168300800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2007,4,4]]},"DOI":"10.1007\/s00439-006-0284-0","type":"journal-article","created":{"date-parts":[[2007,1,8]],"date-time":"2007-01-08T07:50:02Z","timestamp":1168242602000},"page":"501-509","source":"Crossref","is-referenced-by-count":112,"title":["Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation"],"prefix":"10.1007","volume":"121","author":[{"given":"Vera M.","family":"Kalscheuer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"FitzPatrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merete","family":"Bugge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Niebuhr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luitgard M.","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah A.","family":"Shoichet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinna","family":"Menzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fikret","family":"Erdogan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ger","family":"Arkesteijn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Hilger","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhard","family":"Ullmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,1,9]]},"reference":[{"key":"284_CR1","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/(SICI)1097-0320(19990201)35:2<117::AID-CYTO2>3.0.CO;2-L","volume":"35","author":"G Arkesteijn","year":"1999","unstructured":"Arkesteijn G, Jumelet E, Hagenbeek A, Smit E, Slater R, Martens A (1999) Reverse chromosome painting for the identification of marker chromosomes and complex translocations in leukemia. Cytometry 35:117\u2013124","journal-title":"Cytometry"},{"key":"284_CR2","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1038\/31940","volume":"392","author":"P Billuart","year":"1998","unstructured":"Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J (1998) Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392:923\u2013926","journal-title":"Nature"},{"key":"284_CR3","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1038\/sj.ejhg.5201429","volume":"13","author":"I Borg","year":"2005","unstructured":"Borg I, Freude K, Kubart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith MA, Tommerup N, Ropers HH, Sargan D, Kalscheuer VM (2005) Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet 13:921\u2013927","journal-title":"Eur J Hum Genet"},{"key":"284_CR4","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/1471-2105-6-85","volume":"6","author":"W Chen","year":"2005","unstructured":"Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R (2005) CGHPRO\u2014a comprehensive data analysis tool for array CGH. BMC Bioinformatics 6:85","journal-title":"BMC Bioinformatics"},{"key":"284_CR5","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/sj.ejhg.5201595","volume":"14","author":"J Chelly","year":"2006","unstructured":"Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T (2006) Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14:701\u2013713","journal-title":"Eur J Hum Genet"},{"key":"284_CR6","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1080\/01621459.1979.10481038","volume":"74","author":"W Cleveland","year":"1979","unstructured":"Cleveland W (1979) Robust locally weighted regression and smoothing scatterplots. J Am Stat Assoc 74:829\u2013836","journal-title":"J Am Stat Assoc"},{"key":"284_CR7","first-page":"549","volume":"57","author":"F la Barra de","year":"1986","unstructured":"de la Barra F, Skoknic V, Alliende A, Raimann E, Cortes F, Lacassie Y (1986) [Twins with autism and mental retardation associated with balanced (7;20) chromosomal translocation]. Rev Chil Pediatr 57:549\u2013554","journal-title":"Rev Chil Pediatr"},{"key":"284_CR8","doi-asserted-by":"crossref","unstructured":"Erdogan F, Chen W, Kirchhoff M, Kalscheuer VM , Hultschig C, M\u00fcller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R (2006) Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res 115","DOI":"10.1159\/000095921"},{"key":"284_CR9","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/gcc.10155","volume":"36","author":"H Fiegler","year":"2003a","unstructured":"Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP (2003a) DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 36:361\u2013374","journal-title":"Genes Chromosomes Cancer"},{"key":"284_CR10","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1136\/jmg.40.9.664","volume":"40","author":"H Fiegler","year":"2003b","unstructured":"Fiegler H, Gribble SM, Burford DC, Carr P, Prigmore E, Porter KM, Clegg S, Crolla JA, Dennis NR, Jacobs P, Carter NP (2003b) Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays. J Med Genet 40:664\u2013670","journal-title":"J Med Genet"},{"key":"284_CR11","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1007\/s00439-005-0072-2","volume":"118","author":"O Hagens","year":"2006","unstructured":"Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A (2006) Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet 118:578\u2013590","journal-title":"Hum Genet"},{"key":"284_CR12","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1534\/genetics.166.2.835","volume":"166","author":"JK Inlow","year":"2004","unstructured":"Inlow JK, Restifo LL (2004) Molecular and comparative genetics of mental retardation. Genetics 166:835\u2013881","journal-title":"Genetics"},{"key":"284_CR13","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1093\/dnares\/4.5.307","volume":"4","author":"K Ishikawa","year":"1997","unstructured":"Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1997) Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. DNA Res 4:307\u2013313","journal-title":"DNA Res"},{"key":"284_CR14","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng1307","volume":"36","author":"AS Ishkanian","year":"2004","unstructured":"Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijders A, Albertson DG, Pinkel D, Marra MA, Ling V, MacAulay C, Lam WL (2004) A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299\u2013303","journal-title":"Nat Genet"},{"key":"284_CR15","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1086\/375538","volume":"72","author":"VM Kalscheuer","year":"2003","unstructured":"Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J (2003) Disruption of the serine\/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 72:1401\u20131411","journal-title":"Am J Hum Genet"},{"key":"284_CR16","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1136\/jmg.2003.016972","volume":"41","author":"T Kleefstra","year":"2004","unstructured":"Kleefstra T, Yntema HG, Oudakker AR, Banning MJ, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, de Vries LB, Hamel BC, van Bokhoven H (2004) Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet 41:394\u2013399","journal-title":"J Med Genet"},{"key":"284_CR17","doi-asserted-by":"crossref","first-page":"3651","DOI":"10.1093\/nar\/gkh700","volume":"32","author":"M Krzywinski","year":"2004","unstructured":"Krzywinski M, Bosdet I, Smailus D, Chiu R, Mathewson C, Wye N, Barber S, Brown-John M, Chan S, Chand S, Cloutier A, Girn N, Lee D, Masson A, Mayo M, Olson T, Pandoh P, Prabhu AL, Schoenmakers E, Tsai M, Albertson D, Lam W, Choy CO, Osoegawa K, Zhao S, de Jong PJ, Schein J, Jones S, Marra MA (2004) A set of BAC clones spanning the human genome. Nucleic Acids Res 32:3651\u20133660","journal-title":"Nucleic Acids Res"},{"key":"284_CR18","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1038\/ng863","volume":"30","author":"N Kurotaki","year":"2002","unstructured":"Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N (2002) Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30:365\u2013366","journal-title":"Nat Genet"},{"key":"284_CR19","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1038\/80002","volume":"26","author":"K Kutsche","year":"2000","unstructured":"Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A (2000) Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet 26:247\u2013250","journal-title":"Nat Genet"},{"issue":"Pt 4","key":"284_CR20","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1046\/j.1469-1809.1998.6240277.x","volume":"62","author":"J Kwiatkowska","year":"1998","unstructured":"Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P, Braiser J, Wigowska-Sowinska J, Kasprzyk-Obara J, Short MP, Kwiatkowski DJ (1998) Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. Ann Hum Genet 62(Pt 4):277\u2013285","journal-title":"Ann Hum Genet"},{"key":"284_CR21","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1101\/gr.169601","volume":"11","author":"K Osoegawa","year":"2001","unstructured":"Osoegawa K, Mammoser AG, Wu C, Frengen E, Zeng C, Catanese JJ, de Jong PJ (2001) A bacterial artificial chromosome library for sequencing the complete human genome. Genome Res 11:483\u2013496","journal-title":"Genome Res"},{"key":"284_CR22","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1038\/sj.ejhg.5201169","volume":"12","author":"B Pichon","year":"2004","unstructured":"Pichon B, Vankerckhove S, Bourrouillou G, Duprez L, Abramowicz MJ (2004) A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. Eur J Hum Genet 12:419\u2013421","journal-title":"Eur J Hum Genet"},{"key":"284_CR23","doi-asserted-by":"crossref","first-page":"2154","DOI":"10.1073\/pnas.92.6.2154","volume":"92","author":"S Prakash","year":"1995","unstructured":"Prakash S, Robbins PW, Wyler DJ (1995) Cloning and analysis of murine cDNA that encodes a fibrogenic lymphokine, fibrosin. Proc Natl Acad Sci U S A 92:2154\u20132158","journal-title":"Proc Natl Acad Sci U S A"},{"key":"284_CR24","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.gde.2006.04.017","volume":"16","author":"HH Ropers","year":"2006","unstructured":"Ropers HH (2006) X-linked mental retardation: many genes for a complex disorder. Curr Opin Genet Dev 16:260\u2013269","journal-title":"Curr Opin Genet Dev"},{"key":"284_CR25","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/nrg1501","volume":"6","author":"HH Ropers","year":"2005","unstructured":"Ropers HH, Hamel BC (2005) X-linked mental retardation. Nat Rev Genet 6:46\u201357","journal-title":"Nat Rev Genet"},{"key":"284_CR26","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s00439-001-0646-6","volume":"110","author":"E Rozenblum","year":"2002","unstructured":"Rozenblum E, Vahteristo P, Sandberg T, Bergthorsson JT, Syrjakoski K, Weaver D, Haraldsson K, Johannsdottir HK, Vehmanen P, Nigam S, Golberger N, Robbins C, Pak E, Dutra A, Gillander E, Stephan DA, Bailey-Wilson J, Juo SH, Kainu T, Arason A, Barkardottir RB, Nevanlinna H, Borg A, Kallioniemi OP (2002) A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes. Hum Genet 110:111\u2013121","journal-title":"Hum Genet"},{"key":"284_CR27","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1038\/nm738","volume":"8","author":"T Shindo","year":"2002","unstructured":"Shindo T, Manabe I, Fukushima Y, Tobe K, Aizawa K, Miyamoto S, Kawai-Kowase K, Moriyama N, Imai Y, Kawakami H, Nishimatsu H, Ishikawa T, Suzuki T, Morita H, Maemura K, Sata M, Hirata Y, Komukai M, Kagechika H, Kadowaki T, Kurabayashi M, Nagai R (2002) Kruppel-like zinc-finger transcription factor KLF5\/BTEB2 is a target for angiotensin II signaling and an essential regulator of cardiovascular remodeling. Nat Med 8:856\u2013863","journal-title":"Nat Med"},{"key":"284_CR28","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1086\/380309","volume":"73","author":"SA Shoichet","year":"2003","unstructured":"Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM (2003) Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet 73:1341\u20131354","journal-title":"Am J Hum Genet"},{"key":"284_CR29","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1007\/s00439-005-1310-3","volume":"117","author":"SA Shoichet","year":"2005","unstructured":"Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM (2005) Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet 117:536\u2013544","journal-title":"Hum Genet"},{"key":"284_CR38","first-page":"747","volume":"1","author":"R Sillar","year":"1981","unstructured":"Sillar R, Young BD (1981) A new method for the preparation of metaphase chromosomes for flow analysis. J Histochem Cytochem 1: 747\u2013748","journal-title":"J Histochem Cytochem"},{"key":"284_CR30","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1006\/geno.2002.6810","volume":"80","author":"R Sultana","year":"2002","unstructured":"Sultana R, Yu CE, Yu J, Munson J, Chen D, Hua W, Estes A, Cortes F, de la Barra F, Yu D, Haider ST, Trask BJ, Green ED, Raskind WH, Disteche CM, Wijsman E, Dawson G, Storm DR, Schellenberg GD, Villacres EC (2002) Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics 80:129\u2013134","journal-title":"Genomics"},{"key":"284_CR31","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/gepi.1129","volume":"23","author":"J Szudek","year":"2002","unstructured":"Szudek J, Joe H, Friedman JM (2002) Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). Genet Epidemiol 23:150\u2013164","journal-title":"Genet Epidemiol"},{"key":"284_CR32","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1086\/426460","volume":"75","author":"J Tao","year":"2004","unstructured":"Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gecz J, Ropers HH, Kalscheuer VM (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5\/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149\u20131154","journal-title":"Am J Hum Genet"},{"key":"284_CR33","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1038\/ng1363","volume":"36","author":"ET Tonkin","year":"2004","unstructured":"Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36:636\u2013641","journal-title":"Nat Genet"},{"key":"284_CR34","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.2144\/03355dd03","volume":"35","author":"IM Veltman","year":"2003","unstructured":"Veltman IM, Veltman JA, Arkesteijn G, Janssen IM, Vissers LE, de Jong PJ, van Kessel AG, Schoenmakers EF (2003) Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes. Biotechniques 35:1066\u20131070","journal-title":"Biotechniques"},{"key":"284_CR35","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1136\/jmg.39.12.893","volume":"39","author":"VS Vervoort","year":"2002","unstructured":"Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE (2002) Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J Med Genet 39:893\u2013899","journal-title":"J Med Genet"},{"key":"284_CR36","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1136\/jmg.2004.029660","volume":"43","author":"Y Yue","year":"2006","unstructured":"Yue Y, Stout K, Grossmann B, Zechner U, Brinckmann A, White C, Pilz DT, Haaf T (2006) Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections. J Med Genet 43:143\u2013147","journal-title":"J Med Genet"},{"key":"284_CR37","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/72829","volume":"24","author":"R Zemni","year":"2000","unstructured":"Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J (2000) A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet 24:167\u2013170","journal-title":"Nat Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-006-0284-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-006-0284-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-006-0284-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T19:25:51Z","timestamp":1559071551000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-006-0284-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1,9]]},"references-count":38,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2007,4,4]]}},"alternative-id":["284"],"URL":"https:\/\/doi.org\/10.1007\/s00439-006-0284-0","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,1,9]]}}}