{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T09:06:15Z","timestamp":1775984775270,"version":"3.50.1"},"reference-count":59,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T00:00:00Z","timestamp":1671062400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100007457","name":"JPB Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007457","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01MH113106"],"award-info":[{"award-number":["R01MH113106"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Autism spectrum disorders (ASD) display both phenotypic and genetic heterogeneity, impeding the understanding of ASD and development of effective means of diagnosis and potential treatments. Genes affected by genomic variations for ASD converge in dozens of gene ontologies (GOs), but the relationship between the variations at the GO level have not been well elucidated. In the current study, multiple types of genomic variations were mapped to GOs and correlations among GOs were measured in ASD and control samples. Several ASD-unique GO correlations were found, suggesting the importance of co-occurrence of genomic variations in genes from different functional categories in ASD etiology. Combined with experimental data, several variations related to WNT signaling, neuron development, synapse morphology\/function and organ morphogenesis were found to be important for ASD with macrocephaly, and novel co-occurrence patterns of them in ASD patients were found. Furthermore, we applied this gene ontology correlation analysis method to find genomic variations that contribute to ASD etiology in combination with changes in gene expression and transcription factor binding, providing novel insights into ASD with macrocephaly and a new methodology for the analysis of genomic variation.<\/jats:p>","DOI":"10.1093\/hmg\/ddac300","type":"journal-article","created":{"date-parts":[[2022,12,14]],"date-time":"2022-12-14T22:58:11Z","timestamp":1671058691000},"page":"1589-1606","source":"Crossref","is-referenced-by-count":5,"title":["Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly"],"prefix":"10.1093","volume":"32","author":[{"given":"Chen","family":"Fu","sequence":"first","affiliation":[{"name":"Case Western Reserve University School of Medicine Department of Genetics and Genomic Science, , Cleveland, OH 44106 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justine","family":"Ngo","sequence":"additional","affiliation":[{"name":"Case Western Reserve University School of Medicine Department of Genetics and Genomic Science, , Cleveland, OH 44106 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanshan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Case Western Reserve University School of Medicine Department of Genetics and Genomic Science, , Cleveland, OH 44106 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leina","family":"Lu","sequence":"additional","affiliation":[{"name":"Case Western Reserve University School of Medicine Department of Genetics and Genomic Science, , Cleveland, OH 44106 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Miron","sequence":"additional","affiliation":[{"name":"Case Western Reserve University School of Medicine Department of Genetics and Genomic Science, , Cleveland, OH 44106 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Schafer","sequence":"additional","affiliation":[{"name":"The Salk Institute for Biological Studies , La Jolla, CA 92037 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fred H","family":"Gage","sequence":"additional","affiliation":[{"name":"The Salk Institute for Biological Studies , La Jolla, CA 92037 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fulai","family":"Jin","sequence":"additional","affiliation":[{"name":"Case Western Reserve University School of Medicine Department of Genetics and Genomic Science, , Cleveland, OH 44106 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fredrick R","family":"Schumacher","sequence":"additional","affiliation":[{"name":"Case Western Reserve University School of Medicine Department of Population and Quantitative Health Sciences, , Cleveland, OH 44106 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2780-1540","authenticated-orcid":false,"given":"Anthony","family":"Wynshaw-Boris","sequence":"additional","affiliation":[{"name":"Case Western Reserve University School of Medicine Department of Genetics and Genomic Science, , Cleveland, OH 44106 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2022,12,15]]},"reference":[{"key":"2023050516324186000_ref1","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/2040-2392-4-36","article-title":"SFARI gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)","volume":"4","author":"Abrahams","year":"2013","journal-title":"Mol. Autism"},{"key":"2023050516324186000_ref2","doi-asserted-by":"crossref","first-page":"e54","DOI":"10.1542\/peds.2013-0819","article-title":"Comorbidity clusters in autism spectrum disorders: an electronic health record time-series analysis","volume":"133","author":"Doshi-Velez","year":"2014","journal-title":"Pediatrics"},{"key":"2023050516324186000_ref3","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.pharmthera.2018.05.007","article-title":"Autism spectrum disorder: classification, diagnosis and therapy","volume":"190","author":"Sharma","year":"2018","journal-title":"Pharmacol. Ther."},{"key":"2023050516324186000_ref4","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1002\/mrdd.20020","article-title":"Brain development in autism: early overgrowth followed by premature arrest of growth","volume":"10","author":"Courchesne","year":"2004","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"2023050516324186000_ref5","doi-asserted-by":"crossref","DOI":"10.13172\/2052-7810-1-1-474","article-title":"Scientific challenges in developing biological markers for autism","volume":"1","author":"Hewitson","year":"2013","journal-title":"OA Autism."},{"key":"2023050516324186000_ref6","doi-asserted-by":"crossref","first-page":"4072","DOI":"10.1093\/hmg\/ddq307","article-title":"A genome-wide scan for common alleles affecting risk for autism","volume":"19","author":"Anney","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"2023050516324186000_ref7","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":"2023050516324186000_ref8","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1038\/s41588-019-0344-8","article-title":"Identification of common genetic risk variants for autism spectrum disorder","volume":"51","author":"Grove","year":"2019","journal-title":"Nat. Genet."},{"key":"2023050516324186000_ref9","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.ajhg.2016.02.018","article-title":"Frequency and complexity of De novo structural mutation in autism","volume":"98","author":"Brandler","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"2023050516324186000_ref10","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1126\/science.aan2261","article-title":"Paternally inherited cis-regulatory structural variants are associated with autism","volume":"360","author":"Brandler","year":"2018","journal-title":"Science (New York, N.Y.)"},{"key":"2023050516324186000_ref11","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.celrep.2014.08.068","article-title":"De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder","volume":"9","author":"Dong","year":"2014","journal-title":"Cell Rep."},{"key":"2023050516324186000_ref12","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.ajhg.2014.03.018","article-title":"Convergence of genes and cellular pathways dysregulated in autism spectrum disorders","volume":"94","author":"Pinto","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"2023050516324186000_ref13","doi-asserted-by":"crossref","first-page":"F89","DOI":"10.1083\/jcb.150.2.F89","article-title":"The evolution of cell adhesion","volume":"150","author":"Hynes","year":"2000","journal-title":"J. Cell Biol."},{"key":"2023050516324186000_ref14","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1126\/science.1130738","article-title":"Accelerated evolution of conserved noncoding sequences in humans","volume":"314","author":"Prabhakar","year":"2006","journal-title":"Science (New York, N.Y.)"},{"key":"2023050516324186000_ref15","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/j.neubiorev.2016.06.013","article-title":"Genetic heterogeneity in autism: from single gene to a pathway perspective","volume":"68","author":"An","year":"2016","journal-title":"Neurosci. Biobehav. Rev."},{"key":"2023050516324186000_ref16","first-page":"1091","article-title":"ClueGO: a cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks","volume":"25","author":"Bindea","year":"2009","journal-title":"Bioinformatics (Oxford, England)"},{"key":"2023050516324186000_ref17","doi-asserted-by":"crossref","first-page":"2498","DOI":"10.1101\/gr.1239303","article-title":"Cytoscape: a software environment for integrated models of biomolecular interaction networks","volume":"13","author":"Shannon","year":"2003","journal-title":"Genome Res."},{"key":"2023050516324186000_ref18","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/j.cell.2019.07.037","article-title":"Getting to the cores of autism","volume":"178","author":"Iakoucheva","year":"2019","journal-title":"Cell"},{"key":"2023050516324186000_ref19","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"},{"key":"2023050516324186000_ref20","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/2040-2392-5-22","article-title":"DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics","volume":"5","author":"Liu","year":"2014","journal-title":"Mol. Autism"},{"key":"2023050516324186000_ref21","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1101\/gr.178855.114","article-title":"The discovery of integrated gene networks for autism and related disorders","volume":"25","author":"Hormozdiari","year":"2015","journal-title":"Genome Res."},{"key":"2023050516324186000_ref22","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1038\/mp.2016.95","article-title":"Altered proliferation and networks in neural cells derived from idiopathic autistic individuals","volume":"22","author":"Marchetto","year":"2017","journal-title":"Mol. Psychiatry"},{"key":"2023050516324186000_ref23","doi-asserted-by":"crossref","first-page":"841","DOI":"10.15252\/msb.20156108","article-title":"Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers","volume":"11","author":"Pramparo","year":"2015","journal-title":"Mol. Syst. Biol."},{"key":"2023050516324186000_ref24","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.stem.2019.12.013","article-title":"Increased neural progenitor proliferation in a hiPSC model of autism induces replication stress-associated genome instability","volume":"26","author":"Wang","year":"2020","journal-title":"Cell Stem Cell"},{"key":"2023050516324186000_ref25","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1007\/s40473-014-0023-0","article-title":"Genome-wide association studies of autism","volume":"1","author":"Glessner","year":"2014","journal-title":"Curr Behav Neurosci Rep"},{"key":"2023050516324186000_ref26","doi-asserted-by":"crossref","DOI":"10.1101\/mcs.a000422","article-title":"Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline","volume":"1","author":"Jim\u00e9nez-Barr\u00f3n","year":"2015","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"2023050516324186000_ref27","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1186\/1471-2105-9-559","article-title":"WGCNA: an R package for weighted correlation network analysis","volume":"9","author":"Langfelder","year":"2008","journal-title":"BMC Bioinformatics"},{"key":"2023050516324186000_ref28","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1016\/j.bbi.2019.05.015","article-title":"Time dependent expression of the blood biomarkers EIF2D and TOX in patients with schizophrenia","volume":"80","author":"Gilabert-Juan","year":"2019","journal-title":"Brain Behav. Immun."},{"key":"2023050516324186000_ref29","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1002\/(SICI)1097-0258(19980430)17:8<857::AID-SIM777>3.0.CO;2-E","article-title":"Two-sided confidence intervals for the single proportion: comparison of seven methods","volume":"17","author":"Newcombe","year":"1998","journal-title":"Stat. Med."},{"key":"2023050516324186000_ref30","first-page":"10","article-title":"PTEN gene mutations in patients with macrocephaly and classic autism: a systematic review","volume":"33","author":"Zahedi Abghari","year":"2019","journal-title":"Med. J. Islam Repub. Iran"},{"key":"2023050516324186000_ref31","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.molcel.2015.04.001","article-title":"SMADs and YAP compete to control elongation of \u03b2-catenin: LEF-1-recruited RNAPII during hESC differentiation","volume":"58","author":"Estar\u00e1s","year":"2015","journal-title":"Mol. Cell"},{"key":"2023050516324186000_ref32","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.1038\/s41467-017-02330-5","article-title":"Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with post-mortem adult brains","volume":"8","author":"Hoffman","year":"2017","journal-title":"Nat. Commun."},{"key":"2023050516324186000_ref33","doi-asserted-by":"crossref","first-page":"1816","DOI":"10.1093\/hmg\/ddt035","article-title":"Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders","volume":"22","author":"Nguyen","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"2023050516324186000_ref34","first-page":"pyu002","article-title":"GPR39 (zinc receptor) knockout mice exhibit depression-like behavior and CREB\/BDNF down-regulation in the hippocampus","volume":"18","author":"Mlyniec","year":"2014","journal-title":"Int. J. Neuropsychopharmacol."},{"key":"2023050516324186000_ref35","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1009832","article-title":"AKAP13 couples GPCR signaling to mTORC1 inhibition","volume":"17","author":"Zhang","year":"2021","journal-title":"PLoS Genet."},{"key":"2023050516324186000_ref36","doi-asserted-by":"crossref","first-page":"8290","DOI":"10.3390\/ijms21218290","article-title":"An overview of the main genetic, epigenetic and environmental factors involved in autism Spectrum disorder focusing on synaptic activity","volume":"21","author":"Masini","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"2023050516324186000_ref37","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1038\/mp.2015.207","article-title":"Prenatal \u03b2-catenin\/Brn2\/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors","volume":"21","author":"Belinson","year":"2016","journal-title":"Mol. Psychiatry"},{"key":"2023050516324186000_ref38","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002592","article-title":"Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages","volume":"8","author":"Chow","year":"2012","journal-title":"PLoS Genet."},{"key":"2023050516324186000_ref39","doi-asserted-by":"crossref","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U S A"},{"key":"2023050516324186000_ref40","first-page":"3572","article-title":"AnnotSV: an integrated tool for structural variations annotation","volume":"34","author":"Geoffroy","year":"2018","journal-title":"Bioinformatics (Oxford, England)"},{"key":"2023050516324186000_ref41","first-page":"1754","article-title":"Fast and accurate short read alignment with burrows-wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics (Oxford, England)"},{"key":"2023050516324186000_ref42","first-page":"2156","article-title":"The variant call format and VCFtools","volume":"27","author":"Danecek","year":"2011","journal-title":"Bioinformatics (Oxford, England)"},{"key":"2023050516324186000_ref43","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucl. Acids Res."},{"key":"2023050516324186000_ref44","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/s41588-018-0107-y","article-title":"An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder","volume":"50","author":"Werling","year":"2018","journal-title":"Nat. Genet."},{"key":"2023050516324186000_ref45","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/nature08250","article-title":"Targeted capture and massively parallel sequencing of 12 human exomes","volume":"461","author":"Ng","year":"2009","journal-title":"Nature"},{"key":"2023050516324186000_ref46","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1186\/s13059-014-0480-5","article-title":"FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer","volume":"15","author":"Fu","year":"2014","journal-title":"Genome Biol."},{"key":"2023050516324186000_ref47","first-page":"i333","article-title":"DELLY: structural variant discovery by integrated paired-end and split-read analysis","volume":"28","author":"Rausch","year":"2012","journal-title":"Bioinformatics (Oxford, England)"},{"key":"2023050516324186000_ref48","doi-asserted-by":"crossref","first-page":"R84","DOI":"10.1186\/gb-2014-15-6-r84","article-title":"LUMPY: a probabilistic framework for structural variant discovery","volume":"15","author":"Layer","year":"2014","journal-title":"Genome Biol."},{"key":"2023050516324186000_ref49","first-page":"841","article-title":"BEDTools: a flexible suite of utilities for comparing genomic features","volume":"26","author":"Quinlan","year":"2010","journal-title":"Bioinformatics (Oxford, England)"},{"key":"2023050516324186000_ref50","first-page":"2438","article-title":"ChEA: transcription factor regulation inferred from integrating genome-wide ChIP-X experiments","volume":"26","author":"Lachmann","year":"2010","journal-title":"Bioinformatics (Oxford, England)"},{"key":"2023050516324186000_ref51","doi-asserted-by":"crossref","first-page":"10","DOI":"10.14806\/ej.17.1.200","article-title":"Cutadapt removes adapter sequences from high-throughput sequencing reads","volume":"17","author":"Martin","year":"2011","journal-title":"EMBnet J."},{"key":"2023050516324186000_ref52","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1038\/nprot.2016.095","article-title":"Transcript-level expression analysis of RNA-seq experiments with HISAT. StringTie and Ballgown","volume":"11","author":"Pertea","year":"2016","journal-title":"Nat. Protocols"},{"key":"2023050516324186000_ref63","first-page":"2078","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics (Oxford, England)"},{"key":"2023050516324186000_ref53","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol."},{"key":"2023050516324186000_ref54","doi-asserted-by":"crossref","DOI":"10.1002\/0471250953.bi0214s34","article-title":"Using MACS to identify peaks from ChIP-Seq data","author":"Feng","year":"2011","journal-title":"Curr. Protoc. Bioinformat."},{"key":"2023050516324186000_ref55","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1038\/nn.4297","article-title":"Sequential regulatory loops as key gatekeepers for neuronal reprogramming in human cells","volume":"19","author":"Xue","year":"2016","journal-title":"Nat. Neurosci."},{"key":"2023050516324186000_ref56","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/s41593-018-0295-x","article-title":"Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons","volume":"22","author":"Schafer","year":"2019","journal-title":"Nat. Neurosci."},{"key":"2023050516324186000_ref57","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1016\/j.molcel.2010.05.004","article-title":"Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities","volume":"38","author":"Heinz","year":"2010","journal-title":"Mol. Cell"},{"key":"2023050516324186000_ref58","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.molcel.2020.06.007","article-title":"Robust hi-C maps of enhancer-promoter interactions reveal the function of non-coding genome in neural development and diseases","volume":"79","author":"Lu","year":"2020","journal-title":"Mol. Cell"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddac300\/48600268\/ddac300.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/32\/10\/1589\/50207006\/ddac300.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/32\/10\/1589\/50207006\/ddac300.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T16:33:54Z","timestamp":1683304434000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/32\/10\/1589\/6908998"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,15]]},"references-count":59,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,12,15]]},"published-print":{"date-parts":[[2023,5,5]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddac300","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,5,15]]},"published":{"date-parts":[[2022,12,15]]}}}