{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:59:44Z","timestamp":1762001984999,"version":"build-2065373602"},"reference-count":22,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,4,24]],"date-time":"2020-04-24T00:00:00Z","timestamp":1587686400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000923","name":"Australian Research Council","doi-asserted-by":"publisher","award":["DE150101117"],"award-info":[{"award-number":["DE150101117"]}],"id":[{"id":"10.13039\/501100000923","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2020,6]]},"DOI":"10.1016\/j.ymgmr.2020.100593","type":"journal-article","created":{"date-parts":[[2020,4,29]],"date-time":"2020-04-29T15:06:32Z","timestamp":1588172792000},"page":"100593","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome"],"prefix":"10.1016","volume":"23","author":[{"given":"Paul A.","family":"Dawson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soohyun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam D.","family":"Ewing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes B.","family":"Prins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen S.","family":"Heussler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ymgmr.2020.100593_bb0005","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.1701799","article-title":"Systematic reconstruction of autism biology from massive genetic mutation profiles","volume":"4","author":"Luo","year":"2018","journal-title":"Sci. Adv."},{"issue":"11","key":"10.1016\/j.ymgmr.2020.100593_bb0010","first-page":"1707","article-title":"An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder. Mol","volume":"24","author":"Williams","year":"2018","journal-title":"Psychiatry"},{"issue":"5","key":"10.1016\/j.ymgmr.2020.100593_bb0015","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1111\/dmcn.13717","article-title":"Progress in the genetics of autism spectrum disorder","volume":"60","author":"Woodbury-Smith","year":"2018","journal-title":"Dev. Med. Child Neurol."},{"issue":"1","key":"10.1016\/j.ymgmr.2020.100593_bb0020","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s00439-017-1852-1","article-title":"Actionable secondary findings from whole-genome sequencing of 954 east Asians","volume":"137","author":"Tang","year":"2018","journal-title":"Hum. Genet."},{"issue":"2","key":"10.1016\/j.ymgmr.2020.100593_bb0025","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1038\/gim.2016.190","article-title":"Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics","volume":"19","author":"Kalia","year":"2017","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgmr.2020.100593_bb0030","first-page":"1","article-title":"Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM","author":"Heng","year":"2013","journal-title":"arXiv"},{"issue":"5","key":"10.1016\/j.ymgmr.2020.100593_bb0035","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat. Genet."},{"issue":"7","key":"10.1016\/j.ymgmr.2020.100593_bb0040","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1003153","article-title":"GEMINI: integrative exploration of genetic variation and genome annotations","volume":"9","author":"Paila","year":"2013","journal-title":"PLoS Comput. Biol."},{"issue":"18","key":"10.1016\/j.ymgmr.2020.100593_bb0045","doi-asserted-by":"crossref","first-page":"i333","DOI":"10.1093\/bioinformatics\/bts378","article-title":"DELLY: structural variant discovery by integrated paired-end and split-read analysis","volume":"28","author":"Rausch","year":"2012","journal-title":"Bioinformatics"},{"issue":"7571","key":"10.1016\/j.ymgmr.2020.100593_bb0050","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/nature15394","article-title":"An integrated map of structural variation in 2,504 human genomes","volume":"526","author":"Sudmant","year":"2015","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.ymgmr.2020.100593_bb0055","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/s13073-017-0452-y","article-title":"Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability","volume":"9","author":"Reggiani","year":"2017","journal-title":"Genome Med."},{"key":"10.1016\/j.ymgmr.2020.100593_bb0060","doi-asserted-by":"crossref","DOI":"10.1038\/tp.2011.52","article-title":"Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia","volume":"1","author":"Tarabeux","year":"2011","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.ymgmr.2020.100593_bb0065","doi-asserted-by":"crossref","DOI":"10.1038\/tp.2013.46","article-title":"mRNA and protein expression for novel GABAA receptors theta and rho2 are altered in schizophrenia and mood disorders; relevance to FMRP-mGluR5 signaling pathway","volume":"3","author":"Fatemi","year":"2013","journal-title":"Transl. Psychiatry"},{"issue":"7526","key":"10.1016\/j.ymgmr.2020.100593_bb0070","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/nature13772","article-title":"Synaptic, transcriptional and chromatin genes disrupted in autism","volume":"515","author":"De Rubeis","year":"2014","journal-title":"Nature"},{"issue":"40","key":"10.1016\/j.ymgmr.2020.100593_bb0075","doi-asserted-by":"crossref","first-page":"13619","DOI":"10.1523\/JNEUROSCI.2217-15.2015","article-title":"Increased dosage of high-affinity Kainate receptor gene grik4 alters synaptic transmission and reproduces autism Spectrum disorders features","volume":"35","author":"Aller","year":"2015","journal-title":"J. Neurosci."},{"issue":"1\u20132","key":"10.1016\/j.ymgmr.2020.100593_bb0080","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.mce.2011.04.001","article-title":"X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency","volume":"346","author":"Hu","year":"2011","journal-title":"Mol. Cell. Endocrinol."},{"issue":"2","key":"10.1016\/j.ymgmr.2020.100593_bb0085","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.ajhg.2013.06.012","article-title":"Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing","volume":"93","author":"Jiang","year":"2013","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ymgmr.2020.100593_bb0090","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1111\/andr.12432","article-title":"A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing","volume":"6","author":"Lopategui","year":"2018","journal-title":"Andrology"},{"issue":"6","key":"10.1016\/j.ymgmr.2020.100593_bb0095","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1002\/ajmg.a.31145","article-title":"Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers","volume":"140","author":"Chocholska","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"issue":"5","key":"10.1016\/j.ymgmr.2020.100593_bb0100","doi-asserted-by":"crossref","first-page":"1000307","DOI":"10.4172\/2157-7412.1000307","article-title":"A genome wide copy number variations analysis in autism spectrum disorder (ASD) and intellectual disability (ID) in Italian families","volume":"7","author":"Mafalda","year":"2016","journal-title":"J. Genet. Syndr. Gene Ther."},{"issue":"3","key":"10.1016\/j.ymgmr.2020.100593_bb0105","first-page":"704","article-title":"Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism","volume":"32","author":"Gon\u00e7alves","year":"2017","journal-title":"Hum. Reprod."},{"issue":"2","key":"10.1016\/j.ymgmr.2020.100593_bb0110","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/j.1365-2826.2007.01627.x","article-title":"Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome","volume":"20","author":"Kim","year":"2008","journal-title":"J. Neuroendocrinol."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426920300392?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426920300392?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:51:42Z","timestamp":1762001502000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426920300392"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":22,"alternative-id":["S2214426920300392"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100593","relation":{},"ISSN":["2214-4269"],"issn-type":[{"type":"print","value":"2214-4269"}],"subject":[],"published":{"date-parts":[[2020,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100593","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100593"}}