{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:56:07Z","timestamp":1791230167157,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T00:00:00Z","timestamp":1622160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["2R01NS058721-07A1"],"award-info":[{"award-number":["2R01NS058721-07A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000092","name":"Ontario Genomics Institute","doi-asserted-by":"publisher","award":["OGI-147"],"award-info":[{"award-number":["OGI-147"]}],"id":[{"id":"10.13039\/501100000092","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["UM1 HG006542"],"award-info":[{"award-number":["UM1 HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000233","name":"Genome British Columbia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000233","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R35NS105078"],"award-info":[{"award-number":["R35NS105078"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010787","name":"Genome Alberta","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010787","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014429","name":"Children&apos;s Hospital of Eastern Ontario Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014429","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016685","name":"Baylor-Hopkins Center for Mendelian Genomics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016685","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["INST 37\/1049-1"],"award-info":[{"award-number":["INST 37\/1049-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SCHO754\/2-1"],"award-info":[{"award-number":["SCHO754\/2-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT093205 MA"],"award-info":[{"award-number":["WT093205 MA"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT104033AIA"],"award-info":[{"award-number":["WT104033AIA"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002345","name":"Eberhard Karls Universit\u00e4t T\u00fcbingen","doi-asserted-by":"publisher","award":["2554-0-0"],"award-info":[{"award-number":["2554-0-0"]}],"id":[{"id":"10.13039\/501100002345","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012171","name":"Ontario Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012171","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001819","name":"International Rett Syndrome Foundation","doi-asserted-by":"publisher","award":["3701 - 1"],"award-info":[{"award-number":["3701 - 1"]}],"id":[{"id":"10.13039\/100001819","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001819","name":"International Rett Syndrome Foundation","doi-asserted-by":"publisher","award":["418081722"],"award-info":[{"award-number":["418081722"]}],"id":[{"id":"10.13039\/100001819","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["779257"],"award-info":[{"award-number":["779257"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005331","name":"American Brain Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005331","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000850","name":"National Heart and Lung Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000850","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1016\/j.ajhg.2021.04.024","type":"journal-article","created":{"date-parts":[[2021,5,21]],"date-time":"2021-05-21T10:31:47Z","timestamp":1621593107000},"page":"1069-1082","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder"],"prefix":"10.1016","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9773-2667","authenticated-orcid":false,"given":"Holger","family":"Hengel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shabab B.","family":"Hannan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Dyack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara B.","family":"MacKay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Schatz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Fleger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Kurringer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghassan","family":"Balousha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaid","family":"Ghanim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamad","family":"Alzaidan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hessa S.","family":"Alsaif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadahiro","family":"Mitani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevcan","family":"Bozdogan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davut","family":"Pehlivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph J.","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Dehghani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Y.V.","family":"Mehrjardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elliott H.","family":"Sherr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendall C.","family":"Parks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Argilli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"Begtrup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid","family":"Galehdari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osama","family":"Balousha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gholamreza","family":"Shariati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neda","family":"Mazaheri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza A.","family":"Malamiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alistair T.","family":"Pagnamenta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Kingston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Banka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathew","family":"Osmond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelika","family":"Rie\u00df","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"N\u00e4gele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Schuster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Hauser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Admard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Casadei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Velic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Macek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Ossowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2021.04.024_bib1","doi-asserted-by":"crossref","first-page":"e1202","DOI":"10.1371\/journal.pone.0001202","article-title":"Human BCAS3 expression in embryonic stem cells and vascular precursors suggests a role in human embryogenesis and tumor angiogenesis","volume":"2","author":"Siva","year":"2007","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2021.04.024_bib2","doi-asserted-by":"crossref","first-page":"5632","DOI":"10.1038\/s41598-018-24014-w","article-title":"Rudhira\/BCAS3 is essential for mouse development and cardiovascular patterning","volume":"8","author":"Shetty","year":"2018","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2021.04.024_bib3","first-page":"5340","article-title":"Multiple genes at 17q23 undergo amplification and overexpression in breast cancer","volume":"60","author":"B\u00e4rlund","year":"2000","journal-title":"Cancer Res."},{"key":"10.1016\/j.ajhg.2021.04.024_bib4","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1038\/ng.3396","article-title":"A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease","volume":"47","author":"Nikpay","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.04.024_bib5","doi-asserted-by":"crossref","first-page":"7041","DOI":"10.1038\/ncomms8041","article-title":"Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese","volume":"6","author":"Li","year":"2015","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2021.04.024_bib6","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1038\/s41380-017-0012-2","article-title":"Genetics of intellectual disability in consanguineous families","volume":"24","author":"Hu","year":"2019","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.ajhg.2021.04.024_bib7","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/s41431-017-0088-9","article-title":"Biallelic variants in KIF14 cause intellectual disability with microcephaly","volume":"26","author":"Makrythanasis","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.04.024_bib8","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1038\/s41431-020-0609-9","article-title":"First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery","volume":"28","author":"Hengel","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.04.024_bib9","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1038\/s41431-020-0668-y","article-title":"Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy","volume":"28","author":"Hawer","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.04.024_bib10","doi-asserted-by":"crossref","first-page":"15824","DOI":"10.1038\/ncomms15824","article-title":"Genetic diagnosis of Mendelian disorders via RNA sequencing","volume":"8","author":"Kremer","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2021.04.024_bib11","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1007\/s00439-017-1821-8","article-title":"The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes","volume":"136","author":"Monies","year":"2017","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.04.024_bib12","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.neuron.2015.09.048","article-title":"Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease","volume":"88","author":"Karaca","year":"2015","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2021.04.024_bib13","doi-asserted-by":"crossref","first-page":"k1687","DOI":"10.1136\/bmj.k1687","article-title":"The 100\u2009000 Genomes Project: bringing whole genome sequencing to the NHS","volume":"361","author":"Turnbull","year":"2018","journal-title":"BMJ"},{"key":"10.1016\/j.ajhg.2021.04.024_bib14","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1093\/bioinformatics\/btv710","article-title":"Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications","volume":"32","author":"Chen","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2021.04.024_bib15","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.ajhg.2020.06.013","article-title":"De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism","volume":"107","author":"Guillen Sacoto","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.04.024_bib16","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1101\/gr.103119.109","article-title":"Proteogenomics of Pristionchus pacificus reveals distinct proteome structure of nematode models","volume":"20","author":"Borchert","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2021.04.024_bib17","doi-asserted-by":"crossref","first-page":"1896","DOI":"10.1038\/nprot.2007.261","article-title":"Protocol for micro-purification, enrichment, pre-fractionation and storage of peptides for proteomics using StageTips","volume":"2","author":"Rappsilber","year":"2007","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2021.04.024_bib18","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1038\/nmeth.4228","article-title":"Internally tagged ubiquitin: a tool to identify linear polyubiquitin-modified proteins by mass spectrometry","volume":"14","author":"Kliza","year":"2017","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2021.04.024_bib19","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1038\/nbt.1511","article-title":"MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification","volume":"26","author":"Cox","year":"2008","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2021.04.024_bib20","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1021\/pr101065j","article-title":"Andromeda: a peptide search engine integrated into the MaxQuant environment","volume":"10","author":"Cox","year":"2011","journal-title":"J.\u00a0Proteome Res."},{"key":"10.1016\/j.ajhg.2021.04.024_bib21","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/nmeth1019","article-title":"Target-decoy search strategy for increased confidence in large-scale protein identifications by mass spectrometry","volume":"4","author":"Elias","year":"2007","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2021.04.024_bib22","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/nature10098","article-title":"Global quantification of mammalian gene expression control","volume":"473","author":"Schwanh\u00e4usser","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.04.024_bib23","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.immuni.2010.01.013","article-title":"Quantitative proteomics reveals subset-specific viral recognition in dendritic cells","volume":"32","author":"Luber","year":"2010","journal-title":"Immunity"},{"issue":"W1","key":"10.1016\/j.ajhg.2021.04.024_bib24","doi-asserted-by":"crossref","first-page":"W199","DOI":"10.1093\/nar\/gkz401","article-title":"WebGestalt 2019: gene set analysis toolkit with revamped UIs and APIs","volume":"47","author":"Liao","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2021.04.024_bib25","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.04.024_bib26","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: a matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2021.04.024_bib27","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1101\/gr.229401.117","article-title":"Predicting human genes susceptible to genomic instability associated with Alu\/Alu-mediated rearrangements","volume":"28","author":"Song","year":"2018","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2021.04.024_bib28","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1242\/dev.118.2.401","article-title":"Targeted gene expression as a means of altering cell fates and generating dominant phenotypes","volume":"118","author":"Brand","year":"1993","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2021.04.024_bib29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/gene.10150","article-title":"GAL4 system in Drosophila: a fly geneticist\u2019s Swiss army knife","volume":"34","author":"Duffy","year":"2002","journal-title":"Genesis"},{"key":"10.1016\/j.ajhg.2021.04.024_bib30","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/S0960-9822(99)80215-2","article-title":"Neuronal overexpression of APPL, the Drosophila homologue of the amyloid precursor protein (APP), disrupts axonal transport","volume":"9","author":"Torroja","year":"1999","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2021.04.024_bib31","series-title":"FlyBase High Throughput Expression Pattern Data.","author":"Gelbart","year":"2013"},{"key":"10.1016\/j.ajhg.2021.04.024_bib32","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1093\/genetics\/112.3.483","article-title":"Analysis of the dosage compensation of a specific transcript in Drosophila melanogaster","volume":"112","author":"Breen","year":"1986","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2021.04.024_bib33","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1146\/annurev.genet.30.1.637","article-title":"Vive la diff\u00e9rence: males vs females in flies vs worms","volume":"30","author":"Cline","year":"1996","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.ajhg.2021.04.024_bib34","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.ajhg.2017.12.015","article-title":"Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes","volume":"102","author":"Martinelli","year":"2018","journal-title":"Am. J. Hum. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292972100183X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292972100183X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:19:56Z","timestamp":1762078796000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292972100183X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":34,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["S000292972100183X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2021.04.024","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2021.04.024","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 The Authors.","name":"copyright","label":"Copyright"}]}}