{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:11:38Z","timestamp":1772118698325,"version":"3.50.1"},"reference-count":79,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1439,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2011,12]]},"DOI":"10.1002\/humu.21585","type":"journal-article","created":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T03:07:52Z","timestamp":1314846472000},"page":"1427-1435","source":"Crossref","is-referenced-by-count":23,"title":["High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations"],"prefix":"10.1155","volume":"32","author":[{"given":"Roxana","family":"Kariminejad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan","family":"Lind-Thomsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fikret","family":"Erdogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans H.","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reinhard","family":"Ullmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rikke S.","family":"M\u00f8ller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,9,23]]},"reference":[{"key":"10.1002\/humu.21585-BIB1|cit1","doi-asserted-by":"crossref","first-page":"D525","DOI":"10.1093\/nar\/gkp878","article-title":"The IntAct molecular interaction database in 2010","volume":"38","author":"Aranda","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21585-BIB2|cit2","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1093\/nar\/gkg056","article-title":"BIND: the biomolecular interaction network database","volume":"31","author":"Bader","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21585-BIB3|cit3","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/ng.302","article-title":"Increased LIS1 expression affects human and mouse brain development","volume":"41","author":"Bi","year":"2009","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21585-BIB4|cit4","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1086\/519999","article-title":"Mapping of deletion and translocation breakpoints in 1q44 implicates the serine\/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum","volume":"81","author":"Boland","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB5|cit5","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1086\/444400","article-title":"Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification","volume":"77","author":"Boycott","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB6|cit6","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":"10.1002\/humu.21585-BIB7|cit7","doi-asserted-by":"crossref","first-page":"2462","DOI":"10.1093\/hmg\/ddn146","article-title":"Elucidating the relationship between DISC1, NDEL1 and NDE1 and the risk for schizophrenia: evidence of epistasis and competitive binding","volume":"17","author":"Burdick","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21585-BIB8|cit8","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/S0092-8674(00)81736-5","article-title":"A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain","volume":"94","author":"Butz","year":"1998","journal-title":"Cell"},{"key":"10.1002\/humu.21585-BIB9|cit9","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/978-1-59745-398-1_20","article-title":"Searching the protein interaction space through the MINT database","volume":"484","author":"Chatr-Aryamontri","year":"2008","journal-title":"Methods Mol Biol"},{"key":"10.1002\/humu.21585-BIB10|cit10","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/brain\/awp262","article-title":"Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies","volume":"133","author":"de Kovel","year":"2010","journal-title":"Brain"},{"key":"10.1002\/humu.21585-BIB11|cit11","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1086\/491719","article-title":"Diagnostic genome profiling in mental retardation","volume":"77","author":"de Vries","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB12|cit12","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0092-8674(00)80898-3","article-title":"A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome","volume":"92","author":"des Portes","year":"1998","journal-title":"Cell"},{"key":"10.1002\/humu.21585-BIB13|cit13","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1111\/j.1399-0004.2008.00997.x","article-title":"Mowat-Wilson syndrome: an underdiagnosed syndrome","volume":"73","author":"Engenheiro","year":"2008","journal-title":"Clin Genet"},{"key":"10.1002\/humu.21585-BIB14|cit14","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1159\/000095921","article-title":"Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation","volume":"115","author":"Erdogan","year":"2006","journal-title":"Cytogenet Genome Res"},{"key":"10.1002\/humu.21585-BIB15|cit15","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1016\/S0896-6273(00)00145-8","article-title":"LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome","volume":"28","author":"Feng","year":"2000","journal-title":"Neuron"},{"key":"10.1002\/humu.21585-BIB16|cit16","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1016\/S0896-6273(00)80651-0","article-title":"Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia","volume":"21","author":"Fox","year":"1998","journal-title":"Neuron"},{"key":"10.1002\/humu.21585-BIB17|cit17","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1086\/507471","article-title":"Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation","volume":"79","author":"Friedman","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB18|cit18","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1093\/bib\/6.2.194","article-title":"Biomolecular interaction network database","volume":"6","author":"Gilbert","year":"2005","journal-title":"Brief Bioinform"},{"key":"10.1002\/humu.21585-BIB19|cit19","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.neulet.2009.11.003","article-title":"Replicated genetic evidence supports a role for HOMER2 in schizophrenia","volume":"468","author":"Gilks","year":"2010","journal-title":"Neurosci Lett"},{"key":"10.1002\/humu.21585-BIB20|cit20","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0092-8674(00)80899-5","article-title":"Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein","volume":"92","author":"Gleeson","year":"1998","journal-title":"Cell"},{"key":"10.1002\/humu.21585-BIB21|cit21","first-page":"37","article-title":"BioMart Central Portal-unified access to biological data","volume":"1","author":"Haider","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21585-BIB22|cit22","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.ajhg.2011.02.001","article-title":"Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability","volume":"88","author":"Hamdan","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB23|cit23","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1136\/jmg.2007.055202","article-title":"Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR\/MCA while the duplication may be a rare benign variant","volume":"46","author":"Hannes","year":"2009","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21585-BIB24|cit24","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/j.ajhg.2010.03.018","article-title":"Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes","volume":"86","author":"Heinzen","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB25|cit25","first-page":"32","article-title":"IntAct: an open source molecular interaction database","volume":"1","author":"Hermjakob","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21585-BIB26|cit26","doi-asserted-by":"crossref","first-page":"1692","DOI":"10.1002\/ajmg.a.31776","article-title":"A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome","volume":"143A","author":"Hill","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.21585-BIB27|cit27","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1086\/425586","article-title":"Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder","volume":"75","author":"Hodgkinson","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB28|cit28","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/79246","article-title":"Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations","volume":"26","author":"Hong","year":"2000","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21585-BIB29|cit29","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1038\/nprot.2008.211","article-title":"Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources","volume":"4","author":"Huang da","year":"2009","journal-title":"Nat Protoc"},{"key":"10.1002\/humu.21585-BIB30|cit30","doi-asserted-by":"crossref","first-page":"W169","DOI":"10.1093\/nar\/gkm415","article-title":"DAVID Bioinformatics Resources: expanded annotation database and novel algorithms to better extract biology from large gene lists","volume":"35","author":"Huang da","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21585-BIB31|cit31","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ng1416","article-title":"Detection of large-scale variation in the human genome","volume":"36","author":"Iafrate","year":"2004","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21585-BIB32|cit32","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/mp.2009.101","article-title":"Copy number variations of chromosome 16p13.1 region associated with schizophrenia","volume":"16","author":"Ingason","year":"2011","journal-title":"Mol Psychiatry"},{"key":"10.1002\/humu.21585-BIB33|cit33","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1038\/ng.380","article-title":"Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria","volume":"41","author":"Jaglin","year":"2009","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21585-BIB34|cit34","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1093\/nar\/gki072","article-title":"Reactome: a knowledgebase of biological pathways","volume":"33","author":"Joshi-Tope","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21585-BIB35|cit35","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1038\/ncb1328","article-title":"A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development","volume":"7","author":"Kamiya","year":"2005","journal-title":"Nat Cell Biol"},{"key":"10.1002\/humu.21585-BIB36|cit36","doi-asserted-by":"crossref","first-page":"D354","DOI":"10.1093\/nar\/gkj102","article-title":"From genomics to chemical genomics: new developments in KEGG","volume":"34","author":"Kanehisa","year":"2006","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21585-BIB37|cit37","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.ejmg.2005.06.004","article-title":"Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium","volume":"49","author":"Kanemoto","year":"2006","journal-title":"Eur J Med Genet"},{"key":"10.1002\/humu.21585-BIB38|cit38","doi-asserted-by":"crossref","first-page":"23482","DOI":"10.1074\/jbc.M611269200","article-title":"Regulation of c-Src activity in glutamate-induced neurodegeneration","volume":"282","author":"Khanna","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21585-BIB39|cit39","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/ng1009","article-title":"Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans","volume":"32","author":"Kitamura","year":"2002","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21585-BIB40|cit40","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1093\/bioinformatics\/btp063","article-title":"A flexible rank-based framework for detecting copy number aberrations from array data","volume":"25","author":"LaFramboise","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.21585-BIB41|cit41","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/nbt1295","article-title":"A human phenome-interactome network of protein complexes implicated in genetic disorders","volume":"25","author":"Lage","year":"2007","journal-title":"Nat Biotechnol"},{"key":"10.1002\/humu.21585-BIB42|cit42","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1093\/hmg\/6.2.157","article-title":"Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome","volume":"6","author":"Lo Nigro","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21585-BIB43|cit43","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1684\/epd.2010.0326","article-title":"Detection of microchromosomal aberrations in refractory epilepsy: a pilot study","volume":"12","author":"McMahon","year":"2010","journal-title":"Epileptic Disord"},{"key":"10.1002\/humu.21585-BIB44|cit44","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1086\/522591","article-title":"Recurrent reciprocal rearrangements of 17q12 are associated with renal disease, diabetes and epilepsy","volume":"81","author":"Mefford","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB45|cit45","doi-asserted-by":"crossref","first-page":"e1000962","DOI":"10.1371\/journal.pgen.1000962","article-title":"Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies","volume":"20","author":"Mefford","year":"2010","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.21585-BIB46|cit46","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1136\/jmg.2005.039453","article-title":"Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies: a review of the literature and new series of 140 patients","volume":"43","author":"Menten","year":"2006","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21585-BIB47|cit47","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1086\/521275","article-title":"A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation","volume":"81","author":"Motazacker","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB48|cit48","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1038\/ng.194","article-title":"Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum","volume":"40","author":"Najm","year":"2008","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21585-BIB49|cit49","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1038\/ng.682","article-title":"WDR62 is associated with the spindle pole and is mutated in human microcephaly","volume":"42","author":"Nicholas","year":"2010","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21585-BIB50|cit50","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/s00439-009-0782-y","article-title":"Evidence of statistical epistasis between DISC1, CIT and NDEL1 impacting risk for schizophrenia: biological validation with functional neuroimaging","volume":"127","author":"Nicodemus","year":"2010","journal-title":"Hum Genet"},{"key":"10.1002\/humu.21585-BIB51|cit51","doi-asserted-by":"crossref","first-page":"31459","DOI":"10.1074\/jbc.272.50.31459","article-title":"Mints, Munc18-interacting proteins in synaptic vesicle exocytosis","volume":"272","author":"Okamoto","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21585-BIB52|cit52","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/ng1095-207","article-title":"Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease","volume":"11","author":"Okuizumi","year":"1995","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21585-BIB53|cit53","doi-asserted-by":"crossref","first-page":"2441","DOI":"10.1093\/hmg\/ddn144","article-title":"Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination","volume":"17","author":"Pawlisz","year":"2008","journal-title":". Hum Mol Genet"},{"key":"10.1002\/humu.21585-BIB54|cit54","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1126\/science.1092780","article-title":"G protein-coupled receptor-dependent development of human frontal cortex","volume":"303","author":"Piao","year":"2004","journal-title":"Science"},{"key":"10.1002\/humu.21585-BIB55|cit55","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1002\/humu.20572","article-title":"Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)","volume":"28","author":"Poirier","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21585-BIB56|cit56","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1038\/ejhg.2009.120","article-title":"Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex","volume":"18","author":"Poot","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.21585-BIB57|cit57","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1136\/jmg.2008.065094","article-title":"A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome","volume":"46","author":"Roos","year":"2009","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21585-BIB58|cit58","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1038\/ng.150","article-title":"De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy","volume":"40","author":"Saitsu","year":"2008","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21585-BIB59|cit59","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1136\/jmg.2004.029637","article-title":"Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)","volume":"42","author":"Schoumans","year":"2005","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21585-BIB60|cit60","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1159\/000094804","article-title":"Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development","volume":"115","author":"Schwarzbraun","year":"2006","journal-title":"Cytogenet Genome Res"},{"key":"10.1002\/humu.21585-BIB61|cit61","doi-asserted-by":"crossref","first-page":"1682","DOI":"10.1101\/gr.083501.108","article-title":"High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications","volume":"19","author":"Shaikh","year":"2009","journal-title":"Genome Res"},{"key":"10.1002\/humu.21585-BIB62|cit62","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1136\/jmg.2003.017731","article-title":"Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability\/mental retardation and dysmorphic features","volume":"41","author":"Shaw-Smith","year":"2004","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21585-BIB63|cit63","first-page":"10","article-title":"BioMart-biological queries made easy","volume":"14","author":"Smedley","year":"2009","journal-title":"BMC Genomics"},{"key":"10.1002\/humu.21585-BIB64|cit64","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1093\/bioinformatics\/btq675","article-title":"Cytoscape 2.8: New features for data integration and network visualization","volume":"27","author":"Smoot","year":"2011","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.21585-BIB65|cit65","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1186\/1471-2105-9-303","article-title":"A unified approach to false discovery rate estimation","volume":"9","author":"Strimmer","year":"2008","journal-title":"BMC Bioinformatics"},{"key":"10.1002\/humu.21585-BIB66|cit66","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/0092-8674(91)90499-O","article-title":"Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice","volume":"64","author":"Soriano","year":"1991","journal-title":"Cell"},{"key":"10.1002\/humu.21585-BIB67|cit67","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/S0092-8674(00)80782-5","article-title":"Reeler\/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2","volume":"97","author":"Trommsdorff","year":"1999","journal-title":"Cell"},{"key":"10.1002\/humu.21585-BIB68|cit68","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1002\/humu.20546","article-title":"Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and\/or mental retardation","author":"Ullmann","year":"2007","journal-title":". Hum Mutat"},{"key":"10.1002\/humu.21585-BIB69|cit69","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1136\/jmg.2007.055830","article-title":"Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis\/hypogenesis","volume":"45","author":"van Bon","year":"2008","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21585-BIB70|cit70","doi-asserted-by":"crossref","first-page":"e108","DOI":"10.1371\/journal.pgen.0030108","article-title":"Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans","volume":"3","author":"van de Leemput","year":"2007","journal-title":"PloS Genet"},{"key":"10.1002\/humu.21585-BIB71|cit71","doi-asserted-by":"crossref","first-page":"R39","DOI":"10.1186\/gb-2007-8-3-r39","article-title":"Reactome: a knowledge base of biologic pathways and processes","volume":"8","author":"Vastrik","year":"2007","journal-title":"Genome Biol"},{"key":"10.1002\/humu.21585-BIB72|cit72","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1086\/379977","article-title":"Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities","volume":"73","author":"Vissers","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB73|cit73","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1086\/521274","article-title":"Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation","volume":"81","author":"Wagenstaller","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21585-BIB74|cit74","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1136\/jmg.2009.075903","article-title":"Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia","volume":"47","author":"Wat","year":"2010","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21585-BIB75|cit75","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/S0896-6273(00)80588-7","article-title":"Homer regulates the association of group 1 metabotropic glutamate receptors with multivalent complexes of homer-related synaptic proteins","volume":"21","author":"Xiao","year":"1998","journal-title":"Neuron"},{"key":"10.1002\/humu.21585-BIB76|cit76","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1083\/jcb.141.2.431","article-title":"Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice","volume":"141","author":"Yonekawa","year":"1998","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.21585-BIB77|cit77","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/ng.683","article-title":"Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture","volume":"42","author":"Yu","year":"2010","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21585-BIB78|cit78","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/S0014-5793(01)03293-8","article-title":"MINT: a Molecular INTeraction database","volume":"513","author":"Zanzoni","year":"2002","journal-title":"FEBS Lett"},{"key":"10.1002\/humu.21585-BIB79|cit79","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1086\/431216","article-title":"Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3","volume":"77","author":"Zeng","year":"2005","journal-title":"Am J Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21585","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.21585\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:51:58Z","timestamp":1672314718000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21585"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,23]]},"references-count":79,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21585","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.13489101.14866237","asserted-by":"object"}]},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2011,9,23]]}}}