{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T14:22:32Z","timestamp":1776003752799,"version":"3.50.1"},"reference-count":77,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,3,16]],"date-time":"2024-03-16T00:00:00Z","timestamp":1710547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1016\/j.ajhg.2024.03.012","type":"journal-article","created":{"date-parts":[[2024,4,11]],"date-time":"2024-04-11T14:39:04Z","timestamp":1712846344000},"page":"939-953","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens"],"prefix":"10.1016","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1320-3304","authenticated-orcid":false,"given":"Noriko","family":"Funato","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arja","family":"Heli\u00f6vaara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cedric","family":"Boeckx","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2024.03.012_bib1","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1126\/science.1090005","article-title":"Evolution at two levels in humans and chimpanzees","volume":"188","author":"King","year":"1975","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2024.03.012_bib2","article-title":"Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication Matteo","volume":"8","author":"Balzeau","year":"2022","journal-title":"Sci. Adv."},{"key":"10.1016\/j.ajhg.2024.03.012_bib3","doi-asserted-by":"crossref","first-page":"8463","DOI":"10.1038\/s41598-019-44877-x","article-title":"A catalog of single nucleotide changes distinguishing modern humans from archaic hominins","volume":"9","author":"Kuhlwilm","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2024.03.012_bib4","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1101\/gr.219493.116","article-title":"Detecting ancient positive selection in humans using\u00a0extended lineage sorting","volume":"27","author":"Peyr\u00e9gne","year":"2017","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib5","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1093\/molbev\/msv215","article-title":"Functional analyses of transcription factor binding sites that differ between present-day and archaic humans","volume":"33","author":"Weyer","year":"2016","journal-title":"Mol. Biol. Evol."},{"key":"10.1016\/j.ajhg.2024.03.012_bib6","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/nature19800","article-title":"Formation of new chromatin domains determines pathogenicity of genomic duplications","volume":"538","author":"Franke","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.03.012_bib7","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1016\/j.cell.2016.09.018","article-title":"Ever-changing landscapes: Transcriptional enhancers in development and evolution","volume":"167","author":"Long","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2024.03.012_bib8","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1093\/molbev\/msy099","article-title":"Analysis of genetic variation indicates DNA shape involvement in purifying selection","volume":"35","author":"Wang","year":"2018","journal-title":"Mol. Biol. Evol."},{"key":"10.1016\/j.ajhg.2024.03.012_bib9","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/s41588-021-00804-3","article-title":"Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution","volume":"53","author":"Gokhman","year":"2021","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib10","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1016\/j.ajhg.2019.04.016","article-title":"Impact and evolutionary determinants of Neanderthal introgression on transcriptional and post-transcriptional regulation","volume":"104","author":"Silvert","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib11","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.ajhg.2018.03.001","article-title":"An osteoporosis risk SNP at 1p36.12 acts as an allele-specific enhancer to modulate LINC00339 expression via long-range loop formation","volume":"102","author":"Chen","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib12","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.ajhg.2018.08.009","article-title":"An ancient fecundability-associated polymorphism creates a GATA2 binding site in a distal enhancer of HLA-F","volume":"103","author":"Mika","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib13","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1038\/s41588-022-01087-y","article-title":"Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity","volume":"54","author":"Gazal","year":"2022","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib14","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1126\/science.aaa9119","article-title":"The origins, determinants, and consequences of human mutations","volume":"349","author":"Shendure","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2024.03.012_bib15","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.cell.2013.12.036","article-title":"The human condition-a molecular approach","volume":"157","author":"P\u00e4\u00e4bo","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2024.03.012_bib16","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.cell.2019.08.035","article-title":"Reconstructing Denisovan anatomy using DNA methylation maps","volume":"179","author":"Gokhman","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2024.03.012_bib17","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.aao5961","article-title":"The evolution of modern human brain shape","volume":"4","author":"Neubauer","year":"2018","journal-title":"Sci. Adv."},{"issue":"Suppl","key":"10.1016\/j.ajhg.2024.03.012_bib18","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/ajpa.23766","article-title":"Craniofacial skeletal response to encephalization: How do we know what we think we know?","volume":"168","author":"Lesciotto","year":"2019","journal-title":"Am. J. Phys. Anthropol."},{"key":"10.1016\/j.ajhg.2024.03.012_bib19","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1006\/jhev.1998.0287","article-title":"The ontogeny of cranial base angulation in humans and chimpanzees and its implications for reconstructing pharyngeal dimensions","volume":"36","author":"Lieberman","year":"1999","journal-title":"J.\u00a0Hum. Evol."},{"key":"10.1016\/j.ajhg.2024.03.012_bib20","doi-asserted-by":"crossref","first-page":"16028","DOI":"10.1073\/pnas.0903864106","article-title":"Out of Africa: modern human origins special feature: the meaning of neandertal skeletal morphology","volume":"106","author":"Weaver","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2024.03.012_bib21","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1111\/j.1558-5646.2011.01496.x","article-title":"Pervasive genetic integration directs the evolution of human skull shape","volume":"66","author":"Mart\u00ednez-Abad\u00edas","year":"2012","journal-title":"Evolution"},{"key":"10.1016\/j.ajhg.2024.03.012_bib22","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1148\/radiology.196.3.7644640","article-title":"Postnatal development of the central skull base: normal variants","volume":"196","author":"Madeline","year":"1995","journal-title":"Radiology"},{"key":"10.1016\/j.ajhg.2024.03.012_bib23","doi-asserted-by":"crossref","first-page":"706","DOI":"10.3389\/fcell.2020.00706","article-title":"New insights into cranial synchondrosis development: A mini review","volume":"8","author":"Funato","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2024.03.012_bib24","doi-asserted-by":"crossref","first-page":"4923","DOI":"10.1073\/pnas.1820745116","article-title":"Morphology, pathology, and the vertebral posture of the La Chapelle-aux-Saints Neandertal","volume":"116","author":"Haeusler","year":"2019","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2024.03.012_bib25","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.jhevol.2013.12.009","article-title":"Revisiting scoliosis in the KNM-WT 15000 Homo erectus skeleton","volume":"67","author":"Schiess","year":"2014","journal-title":"J.\u00a0Hum. Evol."},{"key":"10.1016\/j.ajhg.2024.03.012_bib26","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/S0140-6736(03)14632-6","article-title":"Role of TBX1 in human del22q11.2 syndrome","volume":"362","author":"Yagi","year":"2003","journal-title":"Lancet (London, England)"},{"key":"10.1016\/j.ajhg.2024.03.012_bib27","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/511993","article-title":"Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions","volume":"80","author":"Zweier","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib28","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.bbrc.2018.03.190","article-title":"A novel TBX1 missense mutation in patients with syndromic congenital heart defects","volume":"499","author":"Jaouadi","year":"2018","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2024.03.012_bib29","doi-asserted-by":"crossref","first-page":"7729","DOI":"10.1073\/pnas.0600206103","article-title":"Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome","volume":"103","author":"Paylor","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2024.03.012_bib30","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30984","article-title":"Clinical features of 78 adults with 22q11 deletion syndrome","volume":"138","author":"Bassett","year":"2005","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib31","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1002\/(SICI)1096-8628(19971017)72:2<210::AID-AJMG16>3.0.CO;2-Q","article-title":"Skeletal anomalies and deformities in patients with deletions of 22q11","volume":"72","author":"Ming","year":"1997","journal-title":"Am. J. Med.\u00a0Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib32","doi-asserted-by":"crossref","first-page":"1751","DOI":"10.2106\/00004623-200408000-00020","article-title":"Radiographic study of the upper cervical spine in the 22Q11.2 deletion syndrome","volume":"86","author":"Ricchetti","year":"2004","journal-title":"J.\u00a0Bone Jt. Surg."},{"key":"10.1016\/j.ajhg.2024.03.012_bib33","first-page":"11","article-title":"The Philadelphia story: the 22q11.2 deletion: report on 250 patients","volume":"10","author":"McDonald-McGinn","year":"1999","journal-title":"Genet. Couns."},{"key":"10.1016\/j.ajhg.2024.03.012_bib34","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/j.1601-6343.2006.00373.x","article-title":"Craniofacial cephalometric morphology in children with CATCH 22 syndrome","volume":"9","author":"Heli\u00f6vaara","year":"2006","journal-title":"Orthod. Craniofac. Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib35","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/85845","article-title":"DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1","volume":"27","author":"Jerome","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib36","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/35065105","article-title":"Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice","volume":"410","author":"Lindsay","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.03.012_bib37","doi-asserted-by":"crossref","first-page":"5491","DOI":"10.1242\/dev.01399","article-title":"Tbx1 regulates fibroblast growth factors in the anterior heart field through reinforcing autoregulatory loop involving forkhead transcription factors","volume":"131","author":"Hu","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2024.03.012_bib38","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1093\/hmg\/ddu458","article-title":"Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia","volume":"24","author":"Funato","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib39","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1177\/0022034520925080","article-title":"TBX1 regulates chondrocyte maturation in the spheno-occipital synchondrosis","volume":"99","author":"Funato","year":"2020","journal-title":"J.\u00a0Dent. Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib40","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.03.012_bib41","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib42","doi-asserted-by":"crossref","first-page":"D877","DOI":"10.1093\/nar\/gkv1340","article-title":"HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease","volume":"44","author":"Ward","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib43","doi-asserted-by":"crossref","first-page":"D950","DOI":"10.1093\/nar\/gkab1008","article-title":"3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database","volume":"50","author":"Quan","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib44","doi-asserted-by":"crossref","first-page":"1790","DOI":"10.1101\/gr.137323.112","article-title":"Annotation of functional variation in personal genomes using RegulomeDB","volume":"22","author":"Boyle","year":"2012","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib45","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1038\/s41586-020-2493-4","article-title":"Expanded encyclopaedias of DNA elements in the human and mouse genomes","volume":"583","author":"Moore","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.03.012_bib46","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1126\/science.1262110","article-title":"Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans","volume":"348","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2024.03.012_bib47","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/nature14222","article-title":"Chromatin architecture reorganization during stem cell differentiation","volume":"518","author":"Dixon","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.03.012_bib48","doi-asserted-by":"crossref","first-page":"D52","DOI":"10.1093\/nar\/gkx1017","article-title":"3DIV: A 3D-genome Interaction Viewer and database","volume":"46","author":"Yang","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib49","doi-asserted-by":"crossref","first-page":"W98","DOI":"10.1093\/nar\/gkx247","article-title":"GEPIA: a web server for cancer and normal gene expression profiling and interactive analyses","volume":"45","author":"Tang","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib50","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1038\/ng.2764","article-title":"The Cancer Genome Atlas Pan-Cancer analysis project","volume":"45","author":"Weinstein","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib51","first-page":"D87","article-title":"JASPAR 2020: update of the open-access database of transcription factor binding profiles","volume":"48","author":"Fornes","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib52","doi-asserted-by":"crossref","first-page":"W171","DOI":"10.1093\/nar\/gkz365","article-title":"CHOPCHOP v3: expanding the CRISPR web toolbox beyond genome editing","volume":"47","author":"Labun","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib53","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1038\/nprot.2013.143","article-title":"Genome engineering using the CRISPR-Cas9 system","volume":"8","author":"Ran","year":"2013","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2024.03.012_bib54","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1006\/abio.2000.4753","article-title":"Quantitative reverse transcription-polymerase chain reaction to study mRNA decay: comparison of endpoint and real-time methods","volume":"285","author":"Schmittgen","year":"2000","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ajhg.2024.03.012_bib55","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/365349a0","article-title":"Expression of transcription factor E2F1 induces quiescent cells to enter S phase","volume":"365","author":"Johnson","year":"1993","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.03.012_bib56","doi-asserted-by":"crossref","first-page":"3437","DOI":"10.1242\/dev.126.15.3437","article-title":"MesP1 is expressed in the heart precursor cells and required for the formation of a single heart tube","volume":"126","author":"Saga","year":"1999","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2024.03.012_bib57","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/S0092-8674(03)00002-3","article-title":"Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity","volume":"112","author":"\u0160o\u0161i\u0107","year":"2003","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2024.03.012_bib58","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/(SICI)1526-968X(200002)26:2<113::AID-GENE3>3.0.CO;2-2","article-title":"Epiblast-restricted Cre\u00a0expression in MORE mice: a tool to distinguish embryonic vs. extra-embryonic gene function","volume":"26","author":"Tallquist","year":"2000","journal-title":"Genesis"},{"key":"10.1016\/j.ajhg.2024.03.012_bib59","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1093\/hmg\/dds409","article-title":"The ciliary Evc\/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu\/Gli3 dissociation and Gli3 trafficking in primary cilia","volume":"22","author":"Caparr\u00f3s-Mart\u00edn","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib60","doi-asserted-by":"crossref","first-page":"2976","DOI":"10.1093\/nar\/gkt1249","article-title":"Systematic discovery and characterization of regulatory motifs in ENCODE TF binding experiments","volume":"42","author":"Kheradpour","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.03.012_bib61","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"489","author":"Dunham","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.03.012_bib62","doi-asserted-by":"crossref","first-page":"9937","DOI":"10.1038\/s41598-022-13589-0","article-title":"Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens","volume":"12","author":"Andirk\u00f3","year":"2022","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2024.03.012_bib63","doi-asserted-by":"crossref","first-page":"3685","DOI":"10.1038\/s41467-019-11596-w","article-title":"Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese","volume":"10","author":"Kou","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2024.03.012_bib64","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ajhg.2019.11.010","article-title":"Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects","volume":"106","author":"Zhao","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib65","doi-asserted-by":"crossref","first-page":"2524","DOI":"10.1093\/hmg\/dds071","article-title":"Tbx1 regulates oral epithelial adhesion and palatal development","volume":"21","author":"Funato","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib66","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/(SICI)1097-0177(199608)206:4<379::AID-AJA4>3.0.CO;2-F","article-title":"Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development","volume":"206","author":"Chapman","year":"1996","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.ajhg.2024.03.012_bib67","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/j.ajhg.2017.09.010","article-title":"The contribution of Neanderthals to phenotypic variation in modern humans","volume":"101","author":"Dannemann","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib68","doi-asserted-by":"crossref","first-page":"2610","DOI":"10.1038\/s41467-018-05010-0","article-title":"XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1","volume":"9","author":"Bidon","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2024.03.012_bib69","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1016\/j.cell.2018.07.015","article-title":"Nuclear pores promote lethal prostate cancer by increasing POM121-driven E2F1, MYC, and AR nuclear import","volume":"174","author":"Rodriguez-Bravo","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2024.03.012_bib70","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1534\/genetics.112.148213","article-title":"Higher levels of neanderthal ancestry in East Asians than in Europeans","volume":"194","author":"Wall","year":"2013","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2024.03.012_bib71","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ajhg.2015.01.006","article-title":"Complex history of admixture between modern humans and Neandertals","volume":"96","author":"Vernot","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib72","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/j.ajhg.2014.12.029","article-title":"Selection and reduced population size cannot explain higher amounts of Neandertal ancestry in East Asian than in European human populations","volume":"96","author":"Kim","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.03.012_bib73","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature14558","article-title":"An early modern human from Romania with a recent Neanderthal ancestor","volume":"524","author":"Fu","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.03.012_bib74","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.jhevol.2017.03.010","article-title":"Functional analyses of the primate upper cervical vertebral column","volume":"107","author":"Nalley","year":"2017","journal-title":"J.\u00a0Hum. Evol."},{"key":"10.1016\/j.ajhg.2024.03.012_bib75","doi-asserted-by":"crossref","first-page":"194","DOI":"10.3758\/s13423-016-1087-5","article-title":"The language-ready head: Evolutionary considerations","volume":"24","author":"Boeckx","year":"2017","journal-title":"Psychon. Bull. Rev."},{"key":"10.1016\/j.ajhg.2024.03.012_bib76","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1353\/hub.2013.a541094","article-title":"Comparative morphology of the Hominin and African ape hyoid bone, a possible marker of the evolution of speech","volume":"85","author":"Steele","year":"2013","journal-title":"Hum. Biol."},{"key":"10.1016\/j.ajhg.2024.03.012_bib77","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1136\/jmg.32.9.746","article-title":"Monozygotic twins with chromosome 22q11 deletion and discordant phenotype","volume":"32","author":"Goodship","year":"1995","journal-title":"J.\u00a0Med. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929724000855?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929724000855?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T20:04:31Z","timestamp":1717185871000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929724000855"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":77,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["S0002929724000855"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2024.03.012","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2024.03.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Author(s).","name":"copyright","label":"Copyright"}]}}