{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T04:10:27Z","timestamp":1793851827079,"version":"4.6.1"},"reference-count":111,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Research Council of Finland","doi-asserted-by":"publisher","award":["315589"],"award-info":[{"award-number":["315589"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Research Council of Finland","doi-asserted-by":"publisher","award":["320129"],"award-info":[{"award-number":["320129"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015735","name":"University of Helsinki Helsinki Institute of Life Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015735","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Cell Genomics"],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1016\/j.xgen.2025.100890","type":"journal-article","created":{"date-parts":[[2025,5,26]],"date-time":"2025-05-26T11:41:09Z","timestamp":1748259669000},"page":"100890","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Early establishment and life course stability of sex biases in the human brain transcriptome"],"prefix":"10.1016","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4717-8183","authenticated-orcid":false,"given":"Clara","family":"Benoit-Pilven","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juho V.","family":"Asteljoki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaakko T.","family":"Leinonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha","family":"Karjalainen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Daly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5404-8398","authenticated-orcid":false,"given":"Taru","family":"Tukiainen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.xgen.2025.100890_bib1","series-title":"Understanding Differences and Disorders of Sex Development (DSD)","first-page":"63","article-title":"Advances in Neuroimaging","author":"Rodie","year":"2014"},{"key":"10.1016\/j.xgen.2025.100890_bib2","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.neubiorev.2013.12.004","article-title":"A meta-analysis of sex differences in human brain structure","volume":"39","author":"Ruigrok","year":"2014","journal-title":"Neurosci. Biobehav. Rev."},{"key":"10.1016\/j.xgen.2025.100890_bib3","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1007\/s11682-013-9260-1","article-title":"Genetic Influences on Brain Developmental Trajectories on Neuroimaging Studies: From Infancy to Young Adulthood","volume":"8","author":"Douet","year":"2014","journal-title":"Brain Imaging Behav."},{"key":"10.1016\/j.xgen.2025.100890_bib4","doi-asserted-by":"crossref","first-page":"154","DOI":"10.3390\/brainsci8080154","article-title":"Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders","volume":"8","author":"Pinares-Garcia","year":"2018","journal-title":"Brain Sci."},{"key":"10.1016\/j.xgen.2025.100890_bib5","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s11920-018-0874-2","article-title":"Sex Differences in Autism Spectrum Disorder: a Review","volume":"20","author":"Ferri","year":"2018","journal-title":"Curr. Psychiatry Rep."},{"key":"10.1016\/j.xgen.2025.100890_bib6","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s13293-016-0112-8","article-title":"The role of sex-differential biology in risk for autism spectrum disorder","volume":"7","author":"Werling","year":"2016","journal-title":"Biol. Sex Differ."},{"key":"10.1016\/j.xgen.2025.100890_bib7","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1186\/s13059-016-1035-8","article-title":"The autosomal genetic control of sexually dimorphic traits in humans is largely the same across the sexes","volume":"17","author":"Kassam","year":"2016","journal-title":"Genome Biol."},{"key":"10.1016\/j.xgen.2025.100890_bib8","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1038\/s41588-021-00912-0","article-title":"Sex differences in genetic architecture in the UK Biobank","volume":"53","author":"Bernabeu","year":"2021","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib9","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1016\/j.ajhg.2019.11.003","article-title":"Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders","volume":"105","author":"Turner","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib10","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1038\/s41398-020-0699-8","article-title":"Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect","volume":"10","author":"Zhang","year":"2020","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.xgen.2025.100890_bib11","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1038\/s41588-022-01064-5","article-title":"A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex","volume":"54","author":"Antaki","year":"2022","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib12","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1186\/s13073-024-01385-6","article-title":"Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism","volume":"16","author":"Kim","year":"2024","journal-title":"Genome Med."},{"key":"10.1016\/j.xgen.2025.100890_bib13","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1002\/jnr.23876","article-title":"Understanding the epigenetic basis of sex differences in depression","volume":"95","author":"Hodes","year":"2017","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.xgen.2025.100890_bib14","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/jnr.23886","article-title":"Genetic and epigenetic factors underlying sex differences in the regulation of gene expression in the brain","volume":"95","author":"Ratnu","year":"2017","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.xgen.2025.100890_bib15","doi-asserted-by":"crossref","DOI":"10.1126\/science.aba3066","article-title":"The impact of sex on gene expression across human tissues","volume":"369","author":"Oliva","year":"2020","journal-title":"Science"},{"key":"10.1016\/j.xgen.2025.100890_bib16","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/nature10523","article-title":"Spatio-temporal transcriptome of the human brain","volume":"478","author":"Kang","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.xgen.2025.100890_bib17","doi-asserted-by":"crossref","first-page":"21181","DOI":"10.1038\/srep21181","article-title":"Sex Biased Gene Expression Profiling of Human Brains at Major Developmental Stages","volume":"6","author":"Shi","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.xgen.2025.100890_bib18","doi-asserted-by":"crossref","first-page":"2771","DOI":"10.1038\/ncomms3771","article-title":"Widespread sex differences in gene expression and splicing in the adult human brain","volume":"4","author":"Trabzuni","year":"2013","journal-title":"Nat. Commun."},{"key":"10.1016\/j.xgen.2025.100890_bib19","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1093\/hmg\/ddt516","article-title":"Sex-biased methylome and transcriptome in human prefrontal cortex","volume":"23","author":"Xu","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib20","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1097\/WCO.0000000000000069","article-title":"The developmental transcriptome of the human brain: Implications for neurodevelopmental disorders","volume":"27","author":"Tebbenkamp","year":"2014","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.xgen.2025.100890_bib21","article-title":"Neurodevelopmental Disorders and Environmental Toxicants: Epigenetics as an Underlying Mechanism","volume":"2017","author":"Quoc","year":"2017","journal-title":"Int. J. Genomics"},{"key":"10.1016\/j.xgen.2025.100890_bib22","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.cell.2019.12.036","article-title":"Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism","volume":"180","author":"Satterstrom","year":"2020","journal-title":"Cell"},{"key":"10.1016\/j.xgen.2025.100890_bib23","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms10717","article-title":"Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders","volume":"7","author":"Werling","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.xgen.2025.100890_bib24","article-title":"Sex differences in gene expression in the human fetal brain","author":"O\u2019Brien","year":"2019","journal-title":"bioRxiv"},{"key":"10.1016\/j.xgen.2025.100890_bib25","article-title":"Sex differences in early human fetal brain development","author":"Buonocore","year":"2024","journal-title":"bioRxiv"},{"key":"10.1016\/j.xgen.2025.100890_bib26","article-title":"Sex-Differential Gene Expression in Developing Human Cortex and Its Intersection With Autism Risk Pathways","volume":"4","author":"Kissel","year":"2024","journal-title":"Biol. Psychiatry Glob. Open Sci."},{"key":"10.1016\/j.xgen.2025.100890_bib27","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1038\/nature11405","article-title":"An anatomically comprehensive atlas of the adult human brain transcriptome","volume":"489","author":"Hawrylycz","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.xgen.2025.100890_bib28","doi-asserted-by":"crossref","DOI":"10.1126\/science.add7046","article-title":"Transcriptomic diversity of cell types across the adult human brain","volume":"382","author":"Siletti","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.xgen.2025.100890_bib29","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/s11065-010-9148-4","article-title":"The Basics of Brain Development","volume":"20","author":"Stiles","year":"2010","journal-title":"Neuropsychol. Rev."},{"key":"10.1016\/j.xgen.2025.100890_bib30","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.tins.2007.12.005","article-title":"Neuroanatomy of autism","volume":"31","author":"Amaral","year":"2008","journal-title":"Trends Neurosci."},{"key":"10.1016\/j.xgen.2025.100890_bib31","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1111\/joa.12542","article-title":"The neuroanatomy of autism \u2013 a developmental perspective","volume":"230","author":"Donovan","year":"2017","journal-title":"J. Anat."},{"key":"10.1016\/j.xgen.2025.100890_bib32","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1590\/2237-6089-2015-0088","article-title":"Frontal lobe alterations in schizophrenia: A review","volume":"38","author":"Mubarik","year":"2016","journal-title":"Trends Psychiatry Psychother."},{"key":"10.1016\/j.xgen.2025.100890_bib33","doi-asserted-by":"crossref","first-page":"86","DOI":"10.3389\/fnana.2016.00086","article-title":"HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development","volume":"10","author":"Lindsay","year":"2016","journal-title":"Front. Neuroanat."},{"key":"10.1016\/j.xgen.2025.100890_bib34","doi-asserted-by":"crossref","first-page":"3073","DOI":"10.1242\/dev.122820","article-title":"Enabling research with human embryonic and fetal tissue resources","volume":"142","author":"Gerrelli","year":"2015","journal-title":"Development"},{"key":"10.1016\/j.xgen.2025.100890_bib35","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1126\/science.aaz1776","article-title":"The GTEx Consortium atlas of genetic regulatory effects across human tissues","volume":"369","author":"Aguet","year":"2020","journal-title":"Science"},{"key":"10.1016\/j.xgen.2025.100890_bib36","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.neuron.2014.11.011","article-title":"Genomic Perspectives of Transcriptional Regulation in Forebrain Development","volume":"85","author":"Nord","year":"2015","journal-title":"Neuron"},{"key":"10.1016\/j.xgen.2025.100890_bib37","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1038\/s41587-019-0114-2","article-title":"Determining cell type abundance and expression from bulk tissues with digital cytometry","volume":"37","author":"Newman","year":"2019","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.xgen.2025.100890_bib38","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1038\/s41588-022-01066-3","article-title":"Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation","volume":"54","author":"Soskic","year":"2021","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib39","doi-asserted-by":"crossref","first-page":"2442","DOI":"10.1038\/s41467-018-04696-6","article-title":"Uncovering pseudotemporal trajectories with covariates from single cell and bulk expression data","volume":"9","author":"Campbell","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.xgen.2025.100890_bib40","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1186\/s12859-016-1323-z","article-title":"variancePartition: interpreting drivers of variation in complex gene expression studies","volume":"17","author":"Hoffman","year":"2016","journal-title":"BMC Bioinf."},{"key":"10.1016\/j.xgen.2025.100890_bib41","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1093\/bioinformatics\/btaa687","article-title":"dream: Powerful differential expression analysis for repeated measures designs","volume":"37","author":"Hoffman","year":"2021","journal-title":"Bioinformatics"},{"key":"10.1016\/j.xgen.2025.100890_bib42","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/S0896-6273(03)00632-9","article-title":"Neurogenesis and the Cell Cycle","volume":"40","author":"Ohnuma","year":"2003","journal-title":"Neuron"},{"key":"10.1016\/j.xgen.2025.100890_bib43","doi-asserted-by":"crossref","first-page":"549","DOI":"10.5483\/BMBRep.2018.51.11.226","article-title":"Roles of mitochondria in neuronal development","volume":"51","author":"Son","year":"2018","journal-title":"BMB Rep."},{"key":"10.1016\/j.xgen.2025.100890_bib44","doi-asserted-by":"crossref","first-page":"6010","DOI":"10.1038\/srep06010","article-title":"The Crucial Role of Atg5 in Cortical Neurogenesis During Early Brain Development","volume":"4","author":"Lv","year":"2014","journal-title":"Sci. Rep."},{"key":"10.1016\/j.xgen.2025.100890_bib45","doi-asserted-by":"crossref","DOI":"10.3389\/fnmol.2023.1114015","article-title":"Mechanisms of robustness in gene regulatory networks involved in neural development","volume":"16","author":"Arcuschin","year":"2023","journal-title":"Front. Mol. Neurosci."},{"key":"10.1016\/j.xgen.2025.100890_bib46","doi-asserted-by":"crossref","DOI":"10.1093\/bioinformatics\/btad115","article-title":"linemodels: clustering effects based on linear relationships","volume":"39","author":"Pirinen","year":"2023","journal-title":"Bioinformatics"},{"key":"10.1016\/j.xgen.2025.100890_bib47","doi-asserted-by":"crossref","first-page":"2594","DOI":"10.1002\/cne.23551","article-title":"A Unique Ion Channel Clustering Domain on the Axon Initial Segment of Mammalian Neurons","volume":"522","author":"King","year":"2014","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.xgen.2025.100890_bib48","doi-asserted-by":"crossref","first-page":"2461","DOI":"10.1111\/epi.16679","article-title":"Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome","volume":"61","author":"Bar","year":"2020","journal-title":"Epilepsia"},{"key":"10.1016\/j.xgen.2025.100890_bib49","doi-asserted-by":"crossref","first-page":"D1029","DOI":"10.1093\/nar\/gkaa762","article-title":"STAB: a spatio-temporal cell atlas of the human brain","volume":"49","author":"Song","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.xgen.2025.100890_bib50","doi-asserted-by":"crossref","first-page":"3898","DOI":"10.1093\/bioinformatics\/btz196","article-title":"Dissecting differential signals in high-throughput data from complex tissues","volume":"35","author":"Li","year":"2019","journal-title":"Bioinformatics"},{"key":"10.1016\/j.xgen.2025.100890_bib51","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1471-0528.1974.tb00494.x","article-title":"Human Sexual Differentiation\u2014in Utero Influences","volume":"81","author":"Abramovich","year":"1974","journal-title":"J. Obstet. Gynaecol. Br. Commonw."},{"key":"10.1016\/j.xgen.2025.100890_bib52","series-title":"Progress in Brain Research","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/B978-0-444-53630-3.00004-X","article-title":"Sexual differentiation of the human brain in relation to gender identity and sexual orientation","author":"Savic","year":"2010"},{"key":"10.1016\/j.xgen.2025.100890_bib53","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1186\/s12864-021-07760-6","article-title":"UniBind: maps of high-confidence direct TF-DNA interactions across nine species","volume":"22","author":"Puig","year":"2021","journal-title":"BMC Genom."},{"key":"10.1016\/j.xgen.2025.100890_bib54","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1196\/annals.1336.009","article-title":"Foxa1 and Foxa2 Interact with the Androgen Receptor to Regulate Prostate and Epididymal Genes Differentially","volume":"1061","author":"Yu","year":"2005","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/j.xgen.2025.100890_bib55","doi-asserted-by":"crossref","first-page":"D672","DOI":"10.1093\/nar\/gkad1025","article-title":"The Reactome Pathway Knowledgebase 2024","volume":"52","author":"Milacic","year":"2024","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.xgen.2025.100890_bib56","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.mce.2017.08.002","article-title":"Tissue control of androgen action: The ups and downs of androgen receptor expression","volume":"465","author":"Hunter","year":"2018","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.xgen.2025.100890_bib57","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.biopsych.2018.01.002","article-title":"Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder","volume":"84","author":"Quartier","year":"2018","journal-title":"Biol. Psychiatry"},{"key":"10.1016\/j.xgen.2025.100890_bib58","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1016\/j.cell.2016.03.023","article-title":"Single-Cell RNA-Seq Reveals Lineage and X Chromosome Dynamics in Human Preimplantation Embryos","volume":"165","author":"Petropoulos","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.xgen.2025.100890_bib59","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/nature24265","article-title":"Landscape of X chromosome inactivation across human tissues","volume":"550","author":"Tukiainen","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.xgen.2025.100890_bib60","article-title":"The human Y and inactive X chromosomes similarly modulate autosomal gene expression","volume":"4","author":"San Roman","year":"2024","journal-title":"Cell Genom."},{"key":"10.1016\/j.xgen.2025.100890_bib61","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1007\/s00018-005-5604-3","article-title":"Kallmann\u2019s syndrome, a neuronal migration defect","volume":"63","author":"Cariboni","year":"2006","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.xgen.2025.100890_bib62","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.xgen.2025.100890_bib63","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.gde.2020.05.036","article-title":"Gene constraint and genotype\u2013phenotype correlations in neurodevelopmental disorders","volume":"65","author":"Betancur","year":"2020","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.xgen.2025.100890_bib64","doi-asserted-by":"crossref","first-page":"1866","DOI":"10.1038\/s41588-023-01529-1","article-title":"Systematic differences in discovery of genetic effects on gene expression and complex traits","volume":"55","author":"Mostafavi","year":"2023","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib65","article-title":"Spatially-resolved molecular sex differences at single cell resolution in the adult human hypothalamus","author":"Mulvey","year":"2024","journal-title":"bioRxiv"},{"key":"10.1016\/j.xgen.2025.100890_bib66","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/s41588-023-01300-6","article-title":"Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases","volume":"55","author":"de Klein","year":"2023","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib67","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1038\/nn.3801","article-title":"Genetic variability in the regulation of gene expression in ten regions of the human brain","volume":"17","author":"Ramasamy","year":"2014","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.xgen.2025.100890_bib68","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1101\/gr.216747.116","article-title":"Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change","volume":"27","author":"Mohammadi","year":"2017","journal-title":"Genome Res."},{"key":"10.1016\/j.xgen.2025.100890_bib69","doi-asserted-by":"crossref","DOI":"10.1126\/science.adf1046","article-title":"Sex-biased gene expression across mammalian organ development and evolution","volume":"382","author":"Rodr\u00edguez-Montes","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.xgen.2025.100890_bib70","doi-asserted-by":"crossref","first-page":"186","DOI":"10.3389\/fcell.2019.00186","article-title":"Sexual Dimorphism in the Age of Genomics: How, When, Where","volume":"7","author":"Deegan","year":"2019","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.xgen.2025.100890_bib71","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.ajhg.2009.05.003","article-title":"X Chromosome Inactivation Is Initiated in Human Preimplantation Embryos","volume":"84","author":"Van Den Berg","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib72","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1038\/nature09872","article-title":"Eutherian mammals use diverse strategies to initiate X-chromosome inactivation during development","volume":"472","author":"Okamoto","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.xgen.2025.100890_bib73","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.cell.2023.11.033","article-title":"XIST directly regulates X-linked and autosomal genes in naive human pluripotent cells","volume":"187","author":"Dror","year":"2024","journal-title":"Cell"},{"key":"10.1016\/j.xgen.2025.100890_bib74","article-title":"Evolutionary and biomedical implications of sex differences in the primate brain transcriptome","volume":"4","author":"DeCasien","year":"2024","journal-title":"Cell Genom."},{"key":"10.1016\/j.xgen.2025.100890_bib75","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/s41586-024-08244-9","article-title":"The human and non-human primate developmental GTEx projects","volume":"637","author":"Coorens","year":"2025","journal-title":"Nature"},{"key":"10.1016\/j.xgen.2025.100890_bib76","doi-asserted-by":"crossref","first-page":"2253","DOI":"10.18632\/aging.101912","article-title":"The widespread increase in inter-individual variability of gene expression in the human brain with age","volume":"11","author":"Kedlian","year":"2019","journal-title":"Aging (Albany NY)"},{"key":"10.1016\/j.xgen.2025.100890_bib77","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/nmeth.4197","article-title":"Salmon provides fast and bias-aware quantification of transcript expression","volume":"14","author":"Patro","year":"2017","journal-title":"Nat. Methods"},{"key":"10.1016\/j.xgen.2025.100890_bib78","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1004219","article-title":"MAGMA: Generalized Gene-Set Analysis of GWAS Data","volume":"11","author":"De Leeuw","year":"2015","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.xgen.2025.100890_bib79","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","article-title":"edgeR: a Bioconductor package for differential expression analysis of digital gene expression data","volume":"26","author":"Robinson","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.xgen.2025.100890_bib80","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1093\/bioinformatics\/bts034","article-title":"The sva package for removing batch effects and other unwanted variation in high-throughput experiments","volume":"28","author":"Leek","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.xgen.2025.100890_bib81","unstructured":"Storey JD, Bass AJ, Dabney A, Robinson D. qvalue. Bioconductor. http:\/\/bioconductor.org\/packages\/qvalue\/."},{"key":"10.1016\/j.xgen.2025.100890_bib82","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1089\/omi.2011.0118","article-title":"ClusterProfiler: An R package for comparing biological themes among gene clusters","volume":"16","author":"Yu","year":"2012","journal-title":"OMICS A J. Integr. Biol."},{"key":"10.1016\/j.xgen.2025.100890_bib83","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1038\/s41593-018-0197-y","article-title":"Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis","volume":"21","author":"Jaffe","year":"2018","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.xgen.2025.100890_bib84","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1186\/s13059-018-1567-1","article-title":"Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders","volume":"19","author":"O\u2019Brien","year":"2018","journal-title":"Genome Biol."},{"key":"10.1016\/j.xgen.2025.100890_bib85","doi-asserted-by":"crossref","first-page":"1","DOI":"10.18637\/jss.v022.i04","article-title":"The ade4 package: Implementing the duality diagram for ecologists","volume":"22","author":"Dray","year":"2007","journal-title":"J. Stat. Softw."},{"key":"10.1016\/j.xgen.2025.100890_bib86","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1038\/s41586-019-1338-5","article-title":"Gene expression across mammalian organ development","volume":"571","author":"Cardoso-Moreira","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.xgen.2025.100890_bib87","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":"10.1016\/j.xgen.2025.100890_bib88","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1093\/nar\/gkv007","article-title":"limma powers differential expression analyses for RNA-sequencing and microarray studies","volume":"43","author":"Ritchie","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.xgen.2025.100890_bib89","doi-asserted-by":"crossref","first-page":"7285","DOI":"10.1073\/pnas.1507125112","article-title":"A survey of human brain transcriptome diversity at the single cell level","volume":"112","author":"Darmanis","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.xgen.2025.100890_bib90","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1038\/nature25980","article-title":"A single-cell RNA-seq survey of the developmental landscape of the human prefrontal cortex","volume":"555","author":"Zhong","year":"2018","journal-title":"Nature"},{"key":"10.1016\/j.xgen.2025.100890_bib91","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.neuron.2018.12.006","article-title":"Developmental heterogeneity of microglia and brain myeloid cells revealed by deep single-cell RNA sequencing","volume":"101","author":"Li","year":"2019","journal-title":"Neuron"},{"key":"10.1016\/j.xgen.2025.100890_bib92","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.18632\/aging.202648","article-title":"Ageing transcriptome meta-analysis reveals similarities and differences between key mammalian tissues","volume":"13","author":"Palmer","year":"2021","journal-title":"Aging (Albany NY)"},{"key":"10.1016\/j.xgen.2025.100890_bib93","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/s41588-018-0269-7","article-title":"Discovery of the first genome-wide significant risk loci for attention deficit\/hyperactivity disorder","volume":"51","author":"Demontis","year":"2019","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib94","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1038\/s41588-018-0311-9","article-title":"Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer\u2019s disease risk","volume":"51","author":"Jansen","year":"2019","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib95","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1038\/s41588-019-0439-2","article-title":"Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa","volume":"51","author":"Watson","year":"2019","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib96","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":"10.1016\/j.xgen.2025.100890_bib97","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1038\/s41588-021-00857-4","article-title":"Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology","volume":"53","author":"Mullins","year":"2021","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib98","doi-asserted-by":"crossref","first-page":"5269","DOI":"10.1038\/s41467-018-07524-z","article-title":"Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies","volume":"9","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.xgen.2025.100890_bib99","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1038\/s41588-018-0090-3","article-title":"Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression","volume":"50","author":"Wray","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib100","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/s41588-018-0059-2","article-title":"Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection","volume":"50","author":"Pardi\u00f1as","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib101","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1176\/appi.ajp.2018.18070857","article-title":"Interrogating the genetic determinants of Tourette\u2019s syndrome and other tiC disorders through genome-wide association studies","volume":"176","author":"Yu","year":"2019","journal-title":"Am. J. Psychiatry"},{"key":"10.1016\/j.xgen.2025.100890_bib102","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/s41586-022-04556-w","article-title":"Rare coding variants in 10 genes confer substantial risk for schizophrenia","volume":"604","author":"Singh","year":"2022","journal-title":"Nature"},{"key":"10.1016\/j.xgen.2025.100890_bib103","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/j.ajhg.2021.04.009","article-title":"Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals","volume":"108","author":"Motelow","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib104","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1038\/s41588-018-0143-7","article-title":"De novo variants in neurodevelopmental disorders with epilepsy","volume":"50","author":"Heyne","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib105","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1038\/s41588-022-01104-0","article-title":"Rare coding variation provides insight into the genetic architecture and phenotypic context of autism","volume":"54","author":"Fu","year":"2022","journal-title":"Nat. Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib106","doi-asserted-by":"crossref","DOI":"10.3390\/ijms231911461","article-title":"Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis","volume":"23","author":"Horjus","year":"2022","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.xgen.2025.100890_bib107","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1008180","article-title":"Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease","volume":"15","author":"Vilari\u00f1o-G\u00fcell","year":"2019","journal-title":"PLoS Genet."},{"key":"10.1016\/j.xgen.2025.100890_bib108","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1016\/j.cell.2018.09.049","article-title":"Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk","volume":"175","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.xgen.2025.100890_bib109","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1001\/jamaneurol.2019.1456","article-title":"Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype","volume":"76","author":"Ma","year":"2019","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.xgen.2025.100890_bib110","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1126\/science.aaa3650","article-title":"Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways","volume":"347","author":"Cirulli","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.xgen.2025.100890_bib111","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/nature10110","article-title":"Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology","volume":"474","author":"Voineagu","year":"2011","journal-title":"Nature"}],"container-title":["Cell Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666979X25001466?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666979X25001466?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T10:12:29Z","timestamp":1778926349000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2666979X25001466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":111,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["S2666979X25001466"],"URL":"https:\/\/doi.org\/10.1016\/j.xgen.2025.100890","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.10.11.617734","asserted-by":"object"}]},"ISSN":["2666-979X"],"issn-type":[{"value":"2666-979X","type":"print"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Early establishment and life course stability of sex biases in the human brain transcriptome","name":"articletitle","label":"Article Title"},{"value":"Cell Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.xgen.2025.100890","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100890"}}