{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T10:04:41Z","timestamp":1774865081293,"version":"3.50.1"},"reference-count":68,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014370","name":"SFARI","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014370","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["iScience"],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1016\/j.isci.2024.109113","type":"journal-article","created":{"date-parts":[[2024,2,6]],"date-time":"2024-02-06T13:36:58Z","timestamp":1707226618000},"page":"109113","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Altered pubertal timing in 7q11.23 copy number variations and associated genetic mechanisms"],"prefix":"10.1016","volume":"27","author":[{"given":"Shau-Ming","family":"Wei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael D.","family":"Gregory","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiffany","family":"Nash","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"de Abreu e Gouv\u00eaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn B.","family":"Mervis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine M.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madeline H.","family":"Garvey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Shane","family":"Kippenhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel P.","family":"Eisenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bhaskar","family":"Kolachana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J.","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen F.","family":"Berman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.isci.2024.109113_bib1","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1542\/peds.2005-0542","article-title":"Early puberty and adolescent pregnancy: The influence of alcohol use","volume":"116","author":"Deardorff","year":"2005","journal-title":"Pediatrics"},{"key":"10.1016\/j.isci.2024.109113_bib2","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1016\/S0140-6736(07)60366-3","article-title":"Adolescent health 1 - Pubertal transitions in health","volume":"369","author":"Patton","year":"2007","journal-title":"Lancet"},{"key":"10.1016\/j.isci.2024.109113_bib3","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.dr.2006.11.001","article-title":"Detrimental psychological outcomes associated with early pubertal timing in adolescent girls","volume":"27","author":"Mendle","year":"2007","journal-title":"Dev. Rev."},{"key":"10.1016\/j.isci.2024.109113_bib4","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1038\/ng.3412","article-title":"Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair","volume":"47","author":"Day","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib5","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1093\/aje\/kwx206","article-title":"Epidemiologic Risk Factors for In Situ and Invasive Breast Cancers Among Postmenopausal Women in the National Institutes of Health-AARP Diet and Health Study","volume":"186","author":"Mullooly","year":"2017","journal-title":"Am. J. Epidemiol."},{"key":"10.1016\/j.isci.2024.109113_bib6","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1016\/S1470-2045(12)70425-4","article-title":"Menarche, menopause, and breast cancer risk: individual participant meta-analysis, including 118 964 women with breast cancer from 117 epidemiological studies","volume":"13","year":"2012","journal-title":"Lancet Oncol"},{"key":"10.1016\/j.isci.2024.109113_bib7","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1038\/bjc.2011.254","article-title":"Circulating sex hormones and breast cancer risk factors in postmenopausal women: reanalysis of 13 studies","volume":"105","author":"Key","year":"2011","journal-title":"Br. J. Cancer"},{"key":"10.1016\/j.isci.2024.109113_bib8","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1038\/ng.3551","article-title":"Physical and neurobehavioral determinants of reproductive onset and success","volume":"48","author":"Day","year":"2016","journal-title":"Nat. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib9","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1038\/ijo.2012.177","article-title":"Pubertal timing and adult obesity and cardiometabolic risk in women and men: a systematic review and meta-analysis","volume":"37","author":"Prentice","year":"2013","journal-title":"Int. J. Obes."},{"key":"10.1016\/j.isci.2024.109113_bib10","doi-asserted-by":"crossref","first-page":"4953","DOI":"10.1210\/jc.2009-1789","article-title":"Early age at menarche associated with cardiovascular disease and mortality","volume":"94","author":"Lakshman","year":"2009","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.isci.2024.109113_bib11","doi-asserted-by":"crossref","first-page":"11208","DOI":"10.1038\/srep11208","article-title":"Puberty timing associated with diabetes, cardiovascular disease and also diverse health outcomes in men and women: the UK Biobank study","volume":"5","author":"Day","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.isci.2024.109113_bib12","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.maturitas.2017.07.009","article-title":"Association between age at menarche and cardiovascular disease: A systematic review on risk and potential mechanisms","volume":"104","author":"Luijken","year":"2017","journal-title":"Maturitas"},{"key":"10.1016\/j.isci.2024.109113_bib13","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.atherosclerosis.2007.06.016","article-title":"Effects of age at menarche, reproductive years, and menopause on metabolic risk factors for cardiovascular diseases","volume":"196","author":"Feng","year":"2008","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.isci.2024.109113_bib14","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.1111\/ene.14315","article-title":"Female reproductive factors and the risk of dementia: a nationwide cohort study","volume":"27","author":"Yoo","year":"2020","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.isci.2024.109113_bib15","first-page":"379","article-title":"[A case-control study of endogenous estrogen and risk of Alzheimer's disease]","volume":"22","author":"Hong","year":"2001","journal-title":"Zhonghua Liu Xing Bing Xue Za Zhi"},{"key":"10.1016\/j.isci.2024.109113_bib16","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1001\/jama.285.11.1475","article-title":"Reproductive period and risk of dementia in postmenopausal women","volume":"285","author":"Geerlings","year":"2001","journal-title":"JAMA"},{"key":"10.1016\/j.isci.2024.109113_bib17","doi-asserted-by":"crossref","first-page":"e0192889","DOI":"10.1371\/journal.pone.0192889","article-title":"Reproductive period, endogenous estrogen exposure and dementia incidence among women in Latin\u00a0America and China; A 10\/66 population-based cohort study","volume":"13","author":"Prince","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.isci.2024.109113_bib18","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1111\/j.1365-3016.2010.01183.x","article-title":"Familial concordance for age at menarche: analyses from the Breakthrough Generations Study","volume":"25","author":"Morris","year":"2011","journal-title":"Paediatr. Perinat. Epidemiol."},{"key":"10.1016\/j.isci.2024.109113_bib19","first-page":"739","article-title":"Common genetic influences on BMI and age at menarche","volume":"67","author":"Kaprio","year":"1995","journal-title":"Hum. Biol."},{"key":"10.1016\/j.isci.2024.109113_bib20","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1017\/thg.2019.17","article-title":"Heritability of Age at Menarche in South Korean Female Twins","volume":"22","author":"Hur","year":"2019","journal-title":"Twin Res. Hum. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib21","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1093\/humupd\/dmr050","article-title":"Genetics of age at menarche: a systematic review","volume":"18","author":"Dvornyk","year":"2012","journal-title":"Hum. Reprod. Update"},{"key":"10.1016\/j.isci.2024.109113_bib22","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1007\/s10519-007-9163-2","article-title":"Estimation of variance components for age at menarche in twin families","volume":"37","author":"Anderson","year":"2007","journal-title":"Behav. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib23","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1038\/ng.3841","article-title":"Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk","volume":"49","author":"Day","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib24","doi-asserted-by":"crossref","first-page":"2467","DOI":"10.1056\/NEJMoa1302160","article-title":"Central precocious puberty caused by mutations in the imprinted gene MKRN3","volume":"368","author":"Abreu","year":"2013","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.isci.2024.109113_bib25","doi-asserted-by":"crossref","first-page":"2276","DOI":"10.1210\/jc.2009-2421","article-title":"Mutations of the KISS1 gene in disorders of puberty","volume":"95","author":"Silveira","year":"2010","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.isci.2024.109113_bib26","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.gde.2009.04.010","article-title":"Common vs. rare allele hypotheses for complex diseases","volume":"19","author":"Schork","year":"2009","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.isci.2024.109113_bib27","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/nrg3240","article-title":"Genetic architectures of psychiatric disorders: the emerging picture and its implications","volume":"13","author":"Sullivan","year":"2012","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib28","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/s41572-021-00276-z","article-title":"Williams syndrome","volume":"7","author":"Kozel","year":"2021","journal-title":"Nat. Rev. Dis. Primers"},{"key":"10.1016\/j.isci.2024.109113_bib29","series-title":"GeneReviews((R))","article-title":"Williams Syndrome","author":"Morris","year":"1993"},{"key":"10.1016\/j.isci.2024.109113_bib30","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1097\/MED.0000000000000588","article-title":"Growth, body composition, and endocrine issues in Williams syndrome","volume":"28","author":"Stanley","year":"2021","journal-title":"Curr. Opin. Endocrinol. Diabetes Obes."},{"key":"10.1016\/j.isci.2024.109113_bib31","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1056\/NEJMra0903074","article-title":"Williams-Beuren syndrome","volume":"362","author":"Pober","year":"2010","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.isci.2024.109113_bib32","doi-asserted-by":"crossref","first-page":"15","DOI":"10.6065\/apem.2016.21.1.15","article-title":"Endocrine dysfunctions in children with Williams-Beuren syndrome","volume":"21","author":"Kim","year":"2016","journal-title":"Ann. Pediatr. Endocrinol. Metab."},{"key":"10.1016\/j.isci.2024.109113_bib33","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1067\/mpd.2002.127280","article-title":"Central precocious puberty in girls with Williams syndrome","volume":"141","author":"Partsch","year":"2002","journal-title":"J.\u00a0Pediatr."},{"key":"10.1016\/j.isci.2024.109113_bib34","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1056\/NEJMoa051962","article-title":"Severe expressive-language delay related to duplication of the Williams-Beuren locus","volume":"353","author":"Somerville","year":"2005","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.isci.2024.109113_bib35","doi-asserted-by":"crossref","first-page":"2916","DOI":"10.1002\/ajmg.a.37340","article-title":"7q11.23 Duplication syndrome: Physical characteristics and natural history","volume":"167A","author":"Morris","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.isci.2024.109113_bib36","doi-asserted-by":"crossref","first-page":"111094","DOI":"10.1016\/j.mce.2020.111094","article-title":"Hypothalamo-Pituitary axis and puberty","volume":"520","author":"Spaziani","year":"2021","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.isci.2024.109113_bib37","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","year":"2020","journal-title":"Science"},{"key":"10.1016\/j.isci.2024.109113_bib38","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1007\/s00247-022-05505-5","article-title":"Pituitary gland volumes in children with normal endocrine function","volume":"53","author":"\u00c7olaklar","year":"2023","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.isci.2024.109113_bib39","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1016\/j.lfs.2006.11.040","article-title":"Development and sexual dimorphism of the pituitary gland","volume":"80","author":"MacMaster","year":"2007","journal-title":"Life Sci."},{"key":"10.1016\/j.isci.2024.109113_bib40","first-page":"312","article-title":"Normal development of the pituitary gland: assessment with three-dimensional MR volumetry","volume":"20","author":"Takano","year":"1999","journal-title":"AJNR. Am. J. Neuroradiol."},{"key":"10.1016\/j.isci.2024.109113_bib41","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.2214\/ajr.162.5.8166005","article-title":"MR imaging diagnosis of central precocious puberty: importance of changes in the shape and size of the pituitary gland","volume":"162","author":"Sharafuddin","year":"1994","journal-title":"AJR. Am. J. Roentgenol."},{"key":"10.1016\/j.isci.2024.109113_bib42","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1186\/s12887-020-02283-7","article-title":"Diagnostic value of pituitary volume in girls with precocious puberty","volume":"20","author":"Wu","year":"2020","journal-title":"BMC Pediatr."},{"key":"10.1016\/j.isci.2024.109113_bib43","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/nature13595","article-title":"Biological insights from 108 schizophrenia-associated genetic loci","volume":"511","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.isci.2024.109113_bib44","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1146\/annurev.med.47.1.95","article-title":"Diagnosis and management of nonfunctioning pituitary tumors","volume":"47","author":"Greenman","year":"1996","journal-title":"Annu. Rev. Med."},{"key":"10.1016\/j.isci.2024.109113_bib45","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1007\/BF02914485","article-title":"Null cell adenomas, oncocytomas, and gonadotroph adenomas of the human pituitary: An immunocytochemical and ultrastructural anafysis of 300 cases","volume":"4","author":"Kontogeorgos","year":"1993","journal-title":"Endocr. Pathol."},{"key":"10.1016\/j.isci.2024.109113_bib46","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.psyneuen.2009.05.025","article-title":"HPG-axis hormones during puberty: a study on the association with hypothalamic and pituitary volumes","volume":"35","author":"Peper","year":"2010","journal-title":"Psychoneuroendocrinology"},{"key":"10.1016\/j.isci.2024.109113_bib47","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.neuroimage.2014.02.030","article-title":"Estimating volumes of the pituitary gland from T1-weighted magnetic-resonance images: effects of age, puberty, testosterone, and estradiol","volume":"94","author":"Wong","year":"2014","journal-title":"Neuroimage"},{"key":"10.1016\/j.isci.2024.109113_bib48","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/nature13545","article-title":"Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche","volume":"514","author":"Perry","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.isci.2024.109113_bib49","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1101\/gr.3944605","article-title":"Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23","volume":"15","author":"Antonell","year":"2005","journal-title":"Genome Res."},{"key":"10.1016\/j.isci.2024.109113_bib50","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1096\/fasebj.14.3.581","article-title":"STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion","volume":"14","author":"Pezzi","year":"2000","journal-title":"FASEB J"},{"key":"10.1016\/j.isci.2024.109113_bib51","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1126\/science.adf7760","article-title":"Understanding the genetics of human infertility","volume":"380","author":"Sang","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.isci.2024.109113_bib52","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1038\/35087082","article-title":"Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I","volume":"3","author":"Prieto","year":"2001","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.isci.2024.109113_bib53","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1093\/molehr\/gaaa050","article-title":"STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia","volume":"26","author":"Jaillard","year":"2020","journal-title":"Mol. Hum. Reprod."},{"key":"10.1016\/j.isci.2024.109113_bib54","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1093\/humrep\/dez042","article-title":"Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest","volume":"34","author":"Riera-Escamilla","year":"2019","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.isci.2024.109113_bib55","first-page":"2112","article-title":"Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest","volume":"34","author":"van der Bijl","year":"2019","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.isci.2024.109113_bib56","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.ejmg.2018.07.008","article-title":"Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency","volume":"62","author":"Fran\u00e7a","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib57","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1007\/s00438-019-01594-4","article-title":"Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency","volume":"294","author":"Heddar","year":"2019","journal-title":"Mol. Genet. Genom."},{"key":"10.1016\/j.isci.2024.109113_bib58","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1038\/ejhg.2015.107","article-title":"STAG3 truncating variant as the cause of primary ovarian insufficiency","volume":"24","author":"Le Quesne Stabej","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib59","doi-asserted-by":"crossref","first-page":"1709","DOI":"10.3390\/genes12111709","article-title":"A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature","volume":"12","author":"Mellone","year":"2021","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.isci.2024.109113_bib60","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.3389\/fgene.2019.01016","article-title":"In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency","volume":"10","author":"Xiao","year":"2019","journal-title":"Front. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib61","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.ajhg.2015.05.019","article-title":"Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23","volume":"97","author":"Strong","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib62","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1093\/hmg\/ddaa070","article-title":"Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences","volume":"29","author":"Kopp","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109113_bib63","doi-asserted-by":"crossref","first-page":"e622","DOI":"10.1038\/tp.2015.98","article-title":"Variation in the Williams syndrome GTF2I gene and anxiety proneness interactively affect prefrontal cortical response to aversive stimuli","volume":"5","author":"Jabbi","year":"2015","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.isci.2024.109113_bib64","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1038\/s41593-019-0380-9","article-title":"Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug","volume":"22","author":"Barak","year":"2019","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.isci.2024.109113_bib65","doi-asserted-by":"crossref","first-page":"4654","DOI":"10.1093\/cercor\/bhy344","article-title":"Sequence Variation Associated with SLC12A5 Gene Expression Is Linked to Brain Structure and Function in Healthy Adults","volume":"29","author":"Gregory","year":"2019","journal-title":"Cereb. Cortex"},{"key":"10.1016\/j.isci.2024.109113_bib66","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"Gigascience"},{"key":"10.1016\/j.isci.2024.109113_bib67","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1176\/appi.ajp.2018.17040467","article-title":"Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia","volume":"176","author":"Bergen","year":"2019","journal-title":"Am J Psychiatry"},{"key":"10.1016\/j.isci.2024.109113_bib68","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1176\/appi.ajp.2019.19050527","article-title":"Distinct Polygenic Score Profiles in Schizophrenia Subgroups With Different Trajectories of Cognitive Development","volume":"177","author":"Dickinson","year":"2020","journal-title":"Am. J. Psychiatry"}],"container-title":["iScience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589004224003341?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589004224003341?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:27:14Z","timestamp":1753867634000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2589004224003341"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":68,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["S2589004224003341"],"URL":"https:\/\/doi.org\/10.1016\/j.isci.2024.109113","relation":{},"ISSN":["2589-0042"],"issn-type":[{"value":"2589-0042","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Altered pubertal timing in 7q11.23 copy number variations and associated genetic mechanisms","name":"articletitle","label":"Article Title"},{"value":"iScience","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.isci.2024.109113","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"name":"copyright","label":"Copyright"}],"article-number":"109113"}}