{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T16:29:33Z","timestamp":1791131373934,"version":"4.1.0"},"reference-count":83,"publisher":"Elsevier BV","issue":"1","content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1016\/j.gene.2013.10.020","type":"journal-article","created":{"date-parts":[[2013,11,2]],"date-time":"2013-11-02T04:17:18Z","timestamp":1383365838000},"page":"70-78","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":105,"title":["Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services"],"prefix":"10.1016","volume":"535","author":[{"given":"Jennifer L.","family":"Roberts","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Hovanes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majed","family":"Dasouki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann M.","family":"Manzardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merlin G.","family":"Butler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.10.020_bb0110","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/sj.mp.4002111","article-title":"Genetic variation of the FAT gene at 4q35 is associated with bipolar affective disorder","volume":"13","author":"Abou","year":"2008","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.gene.2013.10.020_bb0425","first-page":"436","article-title":"Aetiologic spectrum of mental retardation & developmental delay in India","volume":"136","author":"Aggarwal","year":"2012","journal-title":"Indian J. Med. Res."},{"key":"10.1016\/j.gene.2013.10.020_bb0290","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1186\/1750-1172-8-87","article-title":"LINS, a modulator of the WNT signaling pathway, is involved in human cognition","volume":"8","author":"Akawi","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.gene.2013.10.020_bb0370","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/j.1399-0004.2007.00750.x","article-title":"1.5Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features","volume":"71","author":"Alberti","year":"2007","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0010","series-title":"Diagnostic and Statistical Manual of Mental Disorders","author":"American Psychiatric Association","year":"2000"},{"key":"10.1016\/j.gene.2013.10.020_bb0015","first-page":"1","article-title":"Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network, 14 sites, United States, 2008","volume":"61","author":"Autism, Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators","year":"2012","journal-title":"MMWR Surveill. Summ."},{"key":"10.1016\/j.gene.2013.10.020_bb0295","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1097\/GIM.0b013e3181ef4286","article-title":"Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity","volume":"12","author":"Bachmann-Gagescu","year":"2010","journal-title":"Genet. Med."},{"key":"10.1016\/j.gene.2013.10.020_bb0410","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.1002\/ajmg.a.31390","article-title":"Identification of a novel polymorphism\u2014the duplication of the NPHP1 (nephronophthisis 1) gene","volume":"140A","author":"Baris","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0050","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejpn.2013.04.010","article-title":"Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features","author":"Battaglia","year":"2013","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.gene.2013.10.020_bb0190","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/ajmg.a.33656","article-title":"Intragenic deletions of IL1RAPL1: report of two cases and review of the literature","volume":"155A","author":"Behnecke","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0105","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/ajmg.b.32148","article-title":"Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature","volume":"162","author":"Bena","year":"2013","journal-title":"Am. J. Med. Genet. B"},{"key":"10.1016\/j.gene.2013.10.020_bb0365","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1159\/000207515","article-title":"Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH","volume":"124","author":"Bittel","year":"2009","journal-title":"Cytogenet. Genome Res."},{"key":"10.1016\/j.gene.2013.10.020_bb0220","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1002\/ajmg.a.32153","article-title":"Autistic and dysmorphic features associated with a submicroscopic 2q33.3-q34 interstitial deletion detected by array comparative genomic hybridization","volume":"146A","author":"Brandau","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0285","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1038\/ejhg.2008.58","article-title":"A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay","volume":"16","author":"Breckpot","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0250","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1016\/j.biochi.2012.03.004","article-title":"Genetics of adiponectin","volume":"94","author":"Breitfeld","year":"2012","journal-title":"Biochimie"},{"key":"10.1016\/j.gene.2013.10.020_bb0335","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1136\/jmg.2009.069906","article-title":"Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes","volume":"47","author":"Bruno","year":"2010","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0150","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s00439-011-0970-4","article-title":"Microdeletion\/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay","volume":"130","author":"Burnside","year":"2011","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0175","first-page":"242537","article-title":"Assessment and treatment in autism spectrum disorders: a focus on genetics and psychiatry","volume":"2012","author":"Butler","year":"2012","journal-title":"Autism Res. Treat."},{"key":"10.1016\/j.gene.2013.10.020_bb0330","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1186\/1471-2350-13-93","article-title":"Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems","volume":"13","author":"Capra","year":"2012","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0115","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1111\/j.1399-0004.2010.01395.x","article-title":"Identification and molecular characterization of two novel chromosomal deletions associated with autism","volume":"78","author":"Chien","year":"2012","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0140","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1016\/S0140-6736(12)62129-1","article-title":"Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis","volume":"381","author":"Cross-Disorder Group of the Psychiatric Genomics Consortium","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.gene.2013.10.020_bb0340","doi-asserted-by":"crossref","first-page":"3197","DOI":"10.1002\/ajmg.a.33741","article-title":"Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion","volume":"152A","author":"D'Angelo","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0255","doi-asserted-by":"crossref","first-page":"1654","DOI":"10.1002\/ajmg.a.34080","article-title":"The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico \u201cRNA binding\u201d analysis of the 3q29 region","volume":"155A","author":"Dasouki","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0195","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"De Ligt","year":"2012","journal-title":"New Engl. J. Med."},{"key":"10.1016\/j.gene.2013.10.020_bb0045","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.gde.2012.03.002","article-title":"Genetic architecture in autism spectrum disorder","volume":"22","author":"Devlin","year":"2012","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.gene.2013.10.020_bb0380","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ajmg.a.33253","article-title":"22q13.3 deletion syndrome: clinical and molecular analysis using array CGH","volume":"152A","author":"Dhar","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0240","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s12311-009-0154-0","article-title":"Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15","volume":"9","author":"Di Gregorio","year":"2010","journal-title":"Cerebellum"},{"key":"10.1016\/j.gene.2013.10.020_bb0345","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1002\/ajmg.a.32195","article-title":"The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients","volume":"146","author":"Doco-Fenzy","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0025","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.psc.2009.12.002","article-title":"The genetics of autism: key issues, recent findings, and clinical implications","volume":"33","author":"El-Fishawy","year":"2010","journal-title":"Psychiatr. Clin. North Am."},{"key":"10.1016\/j.gene.2013.10.020_bb0310","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1176\/appi.ajp.2010.10040484","article-title":"Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome","volume":"167","author":"Feyder","year":"2010","journal-title":"Am. J. Psychiatry"},{"key":"10.1016\/j.gene.2013.10.020_bb0080","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.spen.2012.09.004","article-title":"Updates in the genetic evaluation of the child with global developmental delay or intellectual disability","volume":"19","author":"Flore","year":"2012","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.gene.2013.10.020_bb0055","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1542\/peds.87.5.767","article-title":"Etiology of autism: genetic influences","volume":"87","author":"Folstein","year":"1991","journal-title":"Pediatrics"},{"key":"10.1016\/j.gene.2013.10.020_bb0185","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1002\/ajmg.a.33833","article-title":"Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism","volume":"155A","author":"Franek","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0395","doi-asserted-by":"crossref","first-page":"1386","DOI":"10.1086\/320592","article-title":"The molecular basis of X-linked spondyloepiphyseal dysplasia tarda","volume":"68","author":"Gedeon","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0125","doi-asserted-by":"crossref","first-page":"3513","DOI":"10.1093\/hmg\/dds164","article-title":"Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways","volume":"21","author":"Griswold","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0205","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.nmd.2011.08.009","article-title":"A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement","volume":"22","author":"Hattori","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.gene.2013.10.020_bb0420","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1097\/GIM.0b013e31804d683b","article-title":"Genetic testing in autism: how much is enough?","volume":"9","author":"Herman","year":"2007","journal-title":"Genet. Med."},{"key":"10.1016\/j.gene.2013.10.020_bb0005","first-page":"217","article-title":"Autistic psychopathy in childhood","volume":"2","author":"Kanner","year":"1943","journal-title":"Nerv. Child."},{"key":"10.1016\/j.gene.2013.10.020_bb0230","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ejmg.2006.09.004","article-title":"Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion","volume":"50","author":"Kitsiou-Tzeli","year":"2007","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0350","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1111\/cge.12181","article-title":"Alternative splicing and retinal degeneration","volume":"84","author":"Liu","year":"2013","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0145","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/2040-2392-3-18","article-title":"Support for calcium channel gene defects in autism spectrum disorders","volume":"3","author":"Lu","year":"2012","journal-title":"Mol. Autism"},{"key":"10.1016\/j.gene.2013.10.020_bb0280","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1755-8166-2-26","article-title":"Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)","volume":"2","author":"Manolakos","year":"2009","journal-title":"Mol. Cytogenet."},{"key":"10.1016\/j.gene.2013.10.020_bb0355","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1002\/ajmg.a.34221","article-title":"Familial 4.8MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability","volume":"158A","author":"Margarit","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0270","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/ajmg.b.32173","article-title":"Partial duplication of the PARK2 gene in a child with developmental delay and her normal mother: a second report","volume":"162B","author":"Mariani","year":"2013","journal-title":"Am. J. Med. Genet. B"},{"key":"10.1016\/j.gene.2013.10.020_bb0170","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1002\/ajmg.b.30530","article-title":"Cytogenetic and molecular characterization of A2BP1\/FOX1 as a candidate gene for autism","volume":"144B","author":"Martin","year":"2007","journal-title":"Am. J. Med. Genet. B"},{"key":"10.1016\/j.gene.2013.10.020_bb0200","doi-asserted-by":"crossref","first-page":"e123","DOI":"10.3324\/haematol.11973","article-title":"Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency","volume":"92","author":"Matsubara","year":"2007","journal-title":"Haematologica"},{"key":"10.1016\/j.gene.2013.10.020_bb0135","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s00439-010-0827-2","article-title":"Copy number variants at Williams\u2013Beuren syndrome 7q11.23 region","volume":"128","author":"Merla","year":"2010","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0065","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.jaac.2012.12.011","article-title":"Beyond autism: a baby siblings research consortium study of high-risk children at three years of age","volume":"52","author":"Messinger","year":"2013","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"10.1016\/j.gene.2013.10.020_bb0085","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1212\/WNL.0b013e3182345896","article-title":"Evidence report: genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society","volume":"77","author":"Michelson","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.gene.2013.10.020_bb0035","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/(SICI)1096-8628(20000410)91:4<245::AID-AJMG1>3.0.CO;2-2","article-title":"Value of a clinical morphology examination in autism","volume":"91","author":"Miles","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0090","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0385","doi-asserted-by":"crossref","first-page":"3167","DOI":"10.1002\/ajmg.a.32613","article-title":"Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family","volume":"146A","author":"Nawara","year":"2008","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.gene.2013.10.020_bb0275","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1002\/ajmg.a.35536","article-title":"Report of two patients and further characterization of interstitial 9p13 deletion\u2014a rare but recurrent microdeletion syndrome?","volume":"158A","author":"Niemi","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0060","doi-asserted-by":"crossref","first-page":"e488","DOI":"10.1542\/peds.2010-2825","article-title":"Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study","volume":"128","author":"Ozonoff","year":"2011","journal-title":"Pediatrics"},{"key":"10.1016\/j.gene.2013.10.020_bb0225","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1046\/j.1399-0004.2003.00176.x","article-title":"Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features","volume":"64","author":"Pescuccia","year":"2003","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0075","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/S1071-9091(98)80012-0","article-title":"Classification of developmental delays","volume":"5","author":"Petersen","year":"1998","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.gene.2013.10.020_bb0320","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1083\/jcb.201206028","article-title":"Interaction between autism-linked MDGAs and neuroligins suppresses inhibitory synapse development","volume":"200","author":"Pettem","year":"2013","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.gene.2013.10.020_bb0405","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1002\/ajmg.a.35307","article-title":"Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance","volume":"161A","author":"Philippe","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0300","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/jhg.2011.42","article-title":"16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders","volume":"56","author":"Ramalingam","year":"2011","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0360","first-page":"431","article-title":"Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism","volume":"2013","author":"Ren","year":"1832","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.gene.2013.10.020_bb0305","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1002\/ajmg.a.34436","article-title":"Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome","volume":"158A","author":"Sacharow","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0260","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1002\/ajmg.a.35754","article-title":"Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion","volume":"161A","author":"Sagar","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0210","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1097\/01.mcd.0000065051.36236.e9","article-title":"Interstitial deletion of chromosome 2p16.2p21","volume":"12","author":"Sanders","year":"2003","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.gene.2013.10.020_bb0100","doi-asserted-by":"crossref","first-page":"e50321","DOI":"10.1371\/journal.pone.0050321","article-title":"The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure","volume":"7","author":"Scerri","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.gene.2013.10.020_bb0020","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1097\/01.gim.0000237789.98842.f1","article-title":"Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders","volume":"8","author":"Schaefer","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.gene.2013.10.020_bb0040","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1177\/0883073810370479","article-title":"Array comparative genomic hybridization findings in a cohort referred for an autism evaluation","volume":"25","author":"Schaefer","year":"2010","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.gene.2013.10.020_bb0265","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/ajmg.b.31176","article-title":"PARK2 copy number aberrations in two children presenting with autism spectrum disorder: further support of an association and possible evidence for a new microdeletion\/microduplication syndrome","volume":"156B","author":"Scheuerle","year":"2011","journal-title":"Am. J. Med. Genet. B"},{"key":"10.1016\/j.gene.2013.10.020_bb0315","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1002\/ajmg.a.33316","article-title":"17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor","volume":"152A","author":"Schluth-Bolard","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0095","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/(SICI)1096-8628(19980401)76:4<327::AID-AJMG8>3.0.CO;2-M","article-title":"Autism and maternally derived aberrations of chromosome 15q","volume":"76","author":"Schroer","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0415","doi-asserted-by":"crossref","first-page":"e727","DOI":"10.1542\/peds.2009-1684","article-title":"Clinical genetic testing for patients with autism spectrum disorders","volume":"125","author":"Shen","year":"2010","journal-title":"Pediatrics"},{"key":"10.1016\/j.gene.2013.10.020_bb0375","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/ddrr.2","article-title":"Velo-cardio-facial syndorme: 30years of study","volume":"14","author":"Shprintzen","year":"2008","journal-title":"Dev. Disabil. Res. Rev."},{"key":"10.1016\/j.gene.2013.10.020_bb0155","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1002\/humu.21284","article-title":"Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?","volume":"31","author":"Szafranski","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2013.10.020_bb0325","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/sj.ejhg.5200939","article-title":"A candidate region for Asperger syndrome defined by two 17p breakpoints","volume":"11","author":"Tentler","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0400","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1002\/ajmg.a.32914","article-title":"Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature","volume":"149A","author":"Thomas","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.10.020_bb0180","article-title":"Coffin\u2013Siris syndrome is a SWI\/SNF complex disorder","author":"Tsurusakia","year":"2013","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0130","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1111\/epi.12115","article-title":"Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features","volume":"54","author":"Uusimaa","year":"2013","journal-title":"Epilepsia"},{"key":"10.1016\/j.gene.2013.10.020_bb0245","doi-asserted-by":"crossref","first-page":"e262","DOI":"10.1038\/tp.2013.38","article-title":"Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder","volume":"3","author":"Vardarajan","year":"2013","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.gene.2013.10.020_bb0165","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1056\/NEJMoa075974","article-title":"Association between microdeletion and microduplication at 16p11.2 and autism","volume":"358","author":"Weiss","year":"2008","journal-title":"New Engl. J. Med."},{"key":"10.1016\/j.gene.2013.10.020_bb0235","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ajhg.2010.07.011","article-title":"Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems","volume":"87","author":"Williams","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0160","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1176\/appi.ajp.2011.11060822","article-title":"Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3","volume":"169","author":"Williams","year":"2012","journal-title":"Am. J. Psychiatry"},{"key":"10.1016\/j.gene.2013.10.020_bb0120","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1097\/MCD.0b013e32834e9216","article-title":"12-year-old boy with a 4q35.2 microdeletion and involvement of MTNR1A, FAT1, and F11 genes","volume":"21","author":"Youngs","year":"2012","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.gene.2013.10.020_bb0390","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.ejmg.2011.08.004","article-title":"IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features","volume":"55","author":"Youngs","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.10.020_bb0215","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/j.1399-0004.2011.01637.x","article-title":"A recurrent 1.71Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism","volume":"81","author":"Yu","year":"2012","journal-title":"Clin. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913014157?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913014157?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T13:41:16Z","timestamp":1647006076000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913014157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2]]},"references-count":83,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["S0378111913014157"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.10.020","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.10.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}