{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:51:10Z","timestamp":1792615870526,"version":"4.5.0"},"reference-count":79,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T00:00:00Z","timestamp":1757116800000},"content-version":"vor","delay-in-days":189,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart Lung and Blood Institute","doi-asserted-by":"publisher","award":["R01HL141324"],"award-info":[{"award-number":["R01HL141324"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"NIH National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R35GM153326"],"award-info":[{"award-number":["R35GM153326"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"NIH National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R35GM124926"],"award-info":[{"award-number":["R35GM124926"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2025,3]]},"DOI":"10.1016\/j.ajhg.2025.01.013","type":"journal-article","created":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T10:34:32Z","timestamp":1738924472000},"page":"615-629","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network"],"prefix":"10.1016","volume":"112","author":[{"given":"Darcy T.","family":"Ahern","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prakhar","family":"Bansal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaac V.","family":"Faustino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Owen M.","family":"Chambers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin C.","family":"Banda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather R.","family":"Glatt-Deeley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael E.","family":"Massey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuvabharath","family":"Kondaveeti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4750-1403","authenticated-orcid":false,"given":"Stefan F.","family":"Pinter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2025.01.013_bib1","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/BF00289473","article-title":"The distribution of chromosomal genotypes associated with Turner\u2019s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism","volume":"64","author":"Hook","year":"1983","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.01.013_bib2","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s00439-014-1420-x","article-title":"Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss","volume":"133","author":"Hook","year":"2014","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.01.013_bib3","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/nature13206","article-title":"Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators","volume":"508","author":"Bellott","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2025.01.013_bib4","doi-asserted-by":"crossref","first-page":"241","DOI":"10.3389\/fcell.2019.00241","article-title":"Escape From X-Chromosome Inactivation: An Evolutionary Perspective","volume":"7","author":"Posynick","year":"2019","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib5","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/s41574-019-0224-4","article-title":"Turner syndrome: mechanisms and management","volume":"15","author":"Gravholt","year":"2019","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib6","article-title":"Neural crest lineage analysis: From past to future trajectory","volume":"147","author":"Tang","year":"2020","journal-title":"Dev"},{"key":"10.1016\/j.ajhg.2025.01.013_bib7","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1210\/endrev\/bnac016","article-title":"The Changing Face of Turner Syndrome","volume":"44","author":"Gravholt","year":"2023","journal-title":"Endocr. Rev."},{"key":"10.1016\/j.ajhg.2025.01.013_bib8","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1101\/gr.203001","article-title":"A short pseudoautosomal region in laboratory mice","volume":"11","author":"Perry","year":"2001","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2025.01.013_bib9","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000443157","article-title":"The Eutherian Pseudoautosomal Region","volume":"147","author":"Raudsepp","year":"2015","journal-title":"Cytogenet. Genome Res."},{"key":"10.1016\/j.ajhg.2025.01.013_bib10","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.bbr.2007.02.013","article-title":"The 39,XO mouse as a model for the neurobiology of Turner syndrome and sex-biased neuropsychiatric disorders","volume":"179","author":"Lynn","year":"2007","journal-title":"Behav. Brain Res."},{"key":"10.1016\/j.ajhg.2025.01.013_bib11","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1093\/jhered\/esn027","article-title":"Genotype, phenotype, and karyotype correlation in the XO mouse model of turner syndrome","volume":"99","author":"Probst","year":"2008","journal-title":"J.\u00a0Hered."},{"key":"10.1016\/j.ajhg.2025.01.013_bib12","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2211073119","article-title":"Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta","volume":"119","author":"Ahern","year":"2022","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2025.01.013_bib13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.stemcr.2019.12.004","article-title":"Recurrent Genetic Abnormalities in Human Pluripotent Stem Cells: Definition and Routine Detection in Culture Supernatant by Targeted Droplet Digital PCR","volume":"14","author":"Assou","year":"2020","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.ajhg.2025.01.013_bib14","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2021.109215","article-title":"Contiguous erosion of the inactive X in human pluripotency concludes with global DNA hypomethylation","volume":"35","author":"Bansal","year":"2021","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2025.01.013_bib15","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.2005970","article-title":"CellProfiler 3.0: Next-generation image processing for biology","volume":"16","author":"McQuin","year":"2018","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib16","doi-asserted-by":"crossref","first-page":"i884","DOI":"10.1093\/bioinformatics\/bty560","article-title":"fastp: an ultra-fast all-in-one FASTQ preprocessor","volume":"34","author":"Chen","year":"2018","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2025.01.013_bib17","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/s41587-019-0201-4","article-title":"Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype","volume":"37","author":"Kim","year":"2019","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib18","doi-asserted-by":"crossref","first-page":"12817","DOI":"10.1038\/ncomms12817","article-title":"Rare variant phasing and haplotypic expression from RNA sequencing with phASER","volume":"7","author":"Castel","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2025.01.013_bib19","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.ajhg.2025.01.013_bib20","doi-asserted-by":"crossref","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.ajhg.2025.01.013_bib21","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.ajhg.2025.01.013_bib22","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.ajhg.2025.01.013_bib23","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1186\/1471-2105-9-559","article-title":"WGCNA: An R package for weighted correlation network analysis","volume":"9","author":"Langfelder","year":"2008","journal-title":"BMC Bioinf."},{"key":"10.1016\/j.ajhg.2025.01.013_bib24","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1001057","article-title":"Is My Network Module Preserved and Reproducible?","volume":"7","author":"Langfelder","year":"2011","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib25","doi-asserted-by":"crossref","first-page":"4623","DOI":"10.1038\/s41467-023-40363-1","article-title":"Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes","volume":"14","author":"Yankee","year":"2023","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2025.01.013_bib26","first-page":"2677","article-title":"The facebase consortium: A comprehensive resource for craniofacial researchers","volume":"143","author":"Brinkley","year":"2016","journal-title":"Dev"},{"key":"10.1016\/j.ajhg.2025.01.013_bib27","doi-asserted-by":"crossref","first-page":"E184","DOI":"10.1161\/CIRCRESAHA.120.316704","article-title":"Epigenomic and Transcriptomic Dynamics During Human Heart Organogenesis","volume":"127","author":"Vanoudenhove","year":"2020","journal-title":"Circ. Res."},{"key":"10.1016\/j.ajhg.2025.01.013_bib28","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.stem.2020.09.001","article-title":"Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder","volume":"27","author":"Long","year":"2020","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.ajhg.2025.01.013_bib29","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2021.720858","article-title":"A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With a SOX10 Mutation Displays Compromised Maturation and Function of the Neural Crest That Involves Inner Ear Development","volume":"9","author":"Wen","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib30","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1038\/nm.4220","article-title":"Capturing the biology of disease severity in a PSC-based model of familial dysautonomia","volume":"22","author":"Zeltner","year":"2016","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2025.01.013_bib31","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.stemcr.2019.03.006","article-title":"Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development","volume":"12","author":"Matheus","year":"2019","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.ajhg.2025.01.013_bib32","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1016\/j.cell.2019.08.002","article-title":"Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome","volume":"178","author":"Greenberg","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2025.01.013_bib33","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1016\/j.stem.2019.03.004","article-title":"Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs","volume":"24","author":"Laugsch","year":"2019","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.ajhg.2025.01.013_bib34","doi-asserted-by":"crossref","first-page":"2314","DOI":"10.1158\/1078-0432.CCR-20-1039","article-title":"Transcriptomic Analysis of Laser Capture Microdissected Tumors Reveals Cancer- and Stromal-Specific Molecular Subtypes of Pancreatic Ductal Adenocarcinoma","volume":"27","author":"Birnbaum","year":"2021","journal-title":"Clin. Cancer Res."},{"key":"10.1016\/j.ajhg.2025.01.013_bib35","doi-asserted-by":"crossref","first-page":"S170","DOI":"10.1016\/j.ydbio.2018.07.026","article-title":"The molecular basis of neural crest axial identity","volume":"444","author":"Rothstein","year":"2018","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib36","article-title":"The diverse neural crest: From embryology to human pathology","volume":"146","author":"Etchevers","year":"2019","journal-title":"Dev"},{"key":"10.1016\/j.ajhg.2025.01.013_bib37","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1038\/nbt1365","article-title":"Isolation and directed differentiation of neural crest stem cells derived from human embryonic stem cells","volume":"25","author":"Lee","year":"2007","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib38","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1242\/dev.130849","article-title":"WNT\/\u03b2-catenin signaling mediates human neural crest induction via a pre-neural border intermediate","volume":"143","author":"Leung","year":"2016","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2025.01.013_bib39","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.stemcr.2017.08.008","article-title":"Top-Down Inhibition of BMP Signaling Enables Robust Induction of hPSCs Into Neural Crest in Fully Defined, Xeno-free Conditions","volume":"9","author":"Hackland","year":"2017","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.ajhg.2025.01.013_bib40","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.35786","article-title":"Human axial progenitors generate trunk neural crest cells in\u00a0vitro","volume":"7","author":"Frith","year":"2018","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2025.01.013_bib41","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1242\/dev.105445","article-title":"Establishing neural crest identity: a gene regulatory recipe","volume":"142","author":"Sim\u00f5es-Costa","year":"2015","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2025.01.013_bib47","doi-asserted-by":"crossref","DOI":"10.1126\/science.aas9536","article-title":"Spatiotemporal structure of cell fate decisions in murine neural crest","volume":"364","author":"Soldatov","year":"2019","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2025.01.013_bib43","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/s41586-021-04026-9","article-title":"Human neural tube morphogenesis in\u00a0vitro by geometric constraints","volume":"599","author":"Karzbrun","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2025.01.013_bib42","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1101\/gr.247759.118","article-title":"Characterizing and inferring quantitative cell cycle phase in single-cell RNA-seq data analysis","volume":"30","author":"Hsiao","year":"2020","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2025.01.013_bib44","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.ajhg.2025.01.013_bib45","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1186\/s12864-019-5507-6","article-title":"Human genes escaping X-inactivation revealed by single cell expression data","volume":"20","author":"Wainer Katsir","year":"2019","journal-title":"BMC Genom."},{"key":"10.1016\/j.ajhg.2025.01.013_bib46","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1101\/gr.275677.121","article-title":"Inferring genes that escape X-Chromosome inactivation reveals important contribution of variable escape genes to sex-biased diseases","volume":"31","author":"Sauteraud","year":"2021","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2025.01.013_bib48","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.stem.2015.03.016","article-title":"Erosion of X Chromosome Inactivation in Human Pluripotent Cells Initiates with XACT Coating and Depends on a Specific Heterochromatin Landscape","volume":"16","author":"Vallot","year":"2015","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.ajhg.2025.01.013_bib49","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1101\/gad.294104","article-title":"Snail blocks the cell cycle and confers resistance to cell death","volume":"18","author":"Vega","year":"2004","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2025.01.013_bib50","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1016\/j.cell.2009.11.007","article-title":"Epithelial-Mesenchymal Transitions in Development and Disease","volume":"139","author":"Thiery","year":"2009","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2025.01.013_bib51","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3389\/fendo.2018.00027","article-title":"The Natural History of Metabolic Comorbidities in Turner Syndrome from Childhood to Early Adulthood: Comparison between 45,X Monosomy and Other Karyotypes","volume":"9","author":"Lebenthal","year":"2018","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib52","article-title":"The human inactive X chromosome modulates expression of the active X chromosome","volume":"3","author":"San Roman","year":"2023","journal-title":"Cell Genom."},{"key":"10.1016\/j.ajhg.2025.01.013_bib53","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1001154","article-title":"Characterising and Predicting Haploinsufficiency in the Human Genome","volume":"6","author":"Huang","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2025.01.013_bib54","doi-asserted-by":"crossref","DOI":"10.1371\/annotation\/32c8d343-9e1d-46c6-bfd4-b0cd3fb7a97e","article-title":"Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes","volume":"9","author":"Petrovski","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2025.01.013_bib55","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.ajhg.2025.01.013_bib56","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.25237","article-title":"LARP1 functions as a molecular switch for mTORC1-mediated translation of an essential class of mRNAs","volume":"6","author":"Hong","year":"2017","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2025.01.013_bib57","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.molcel.2017.06.005","article-title":"Autogenous Control of 5\u2032TOP mRNA Stability by 40S Ribosomes","volume":"67","author":"Gentilella","year":"2017","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2025.01.013_bib58","doi-asserted-by":"crossref","first-page":"5319","DOI":"10.1073\/pnas.1912864117","article-title":"Global analysis of LARP1 translation targets reveals tunable and dynamic features of 5\u2032 TOP motifs","volume":"117","author":"Philippe","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2025.01.013_bib59","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1101\/gr.197566.115","article-title":"NanoCAGE reveals 5\u2019 UTR features that define specific modes of translation of functionally related MTOR-sensitive mRNAs","volume":"26","author":"Gandin","year":"2016","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2025.01.013_bib60","doi-asserted-by":"crossref","DOI":"10.3390\/biom10070969","article-title":"TOP mRNPs: Molecular Mechanisms and Principles of Regulation","volume":"10","author":"Cockman","year":"2020","journal-title":"Biomolecules"},{"key":"10.1016\/j.ajhg.2025.01.013_bib61","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ydbio.2021.05.011","article-title":"mTOR deletion in neural crest cells disrupts cardiac outflow tract remodeling and causes a spectrum of cardiac defects through the mTORC1 pathway","volume":"477","author":"Nie","year":"2021","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib62","doi-asserted-by":"crossref","first-page":"2110","DOI":"10.1038\/s41467-019-10100-8","article-title":"Ribosome biogenesis during cell cycle arrest fuels EMT in development and disease","volume":"10","author":"Prakash","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2025.01.013_bib63","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/s41556-020-00626-1","article-title":"Ribosomopathy-associated mutations cause proteotoxic stress that is alleviated by TOR inhibition","volume":"23","author":"Recasens-Alvarez","year":"2021","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib64","article-title":"Zebrafish raptor mutation inhibits the activity of mTORC1, inducing craniofacial defects due to autophagy-induced neural crest cell death","volume":"151","author":"Tucker","year":"2024","journal-title":"Dev"},{"key":"10.1016\/j.ajhg.2025.01.013_bib65","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1007491","article-title":"mTOR acts as a pivotal signaling hub for neural crest cells during craniofacial development","volume":"14","author":"Nie","year":"2018","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2025.01.013_bib66","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/ng0597-54","article-title":"Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome","volume":"16","author":"Rao","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2025.01.013_bib67","doi-asserted-by":"crossref","first-page":"4511","DOI":"10.1073\/pnas.0510544103","article-title":"A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development","volume":"103","author":"Cobb","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2025.01.013_bib68","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.devcel.2020.03.005","article-title":"Metabolic Reprogramming Promotes Neural Crest Migration via Yap\/Tead Signaling","volume":"53","author":"Bhattacharya","year":"2020","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2025.01.013_bib69","doi-asserted-by":"crossref","DOI":"10.1016\/j.phrs.2020.105385","article-title":"Mitochondrial dysfunction interferes with neural crest specification through the FoxD3 transcription factor","volume":"164","author":"Costa","year":"2021","journal-title":"Pharmacol. Res."},{"key":"10.1016\/j.ajhg.2025.01.013_bib70","doi-asserted-by":"crossref","DOI":"10.1002\/dvg.23397","article-title":"Activation of WNT signaling restores the facial deficits in a zebrafish with defects in cholesterol metabolism","volume":"58","author":"Castro","year":"2020","journal-title":"Genesis"},{"key":"10.1016\/j.ajhg.2025.01.013_bib71","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ydbio.2021.01.018","article-title":"Neural crest metabolism: At the crossroads of development and disease","volume":"475","author":"Bhattacharya","year":"2021","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2025.01.013_bib72","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1006\/geno.1996.0007","article-title":"Relationship between the monosomy X phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: a molecular evolutionary analysis of Rps4 homologs","volume":"31","author":"Omoe","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.ajhg.2025.01.013_bib73","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/BF00218830","article-title":"Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X","volume":"97","author":"Geerkens","year":"1996","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.01.013_bib74","doi-asserted-by":"crossref","DOI":"10.1016\/j.bcmd.2024.102838","article-title":"Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?","volume":"106","author":"Da Costa","year":"2024","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.ajhg.2025.01.013_bib75","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/s13072-021-00386-8","article-title":"Cross-species examination of X-chromosome inactivation highlights domains of escape from silencing","volume":"14","author":"Balaton","year":"2021","journal-title":"Epigenet. Chromatin"},{"key":"10.1016\/j.ajhg.2025.01.013_bib76","doi-asserted-by":"crossref","first-page":"831","DOI":"10.3390\/ani11030831","article-title":"Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings","volume":"11","author":"Bugno-Poniewierska","year":"2021","journal-title":"Animals."},{"key":"10.1016\/j.ajhg.2025.01.013_bib77","doi-asserted-by":"crossref","DOI":"10.1016\/j.anireprosci.2020.106353","article-title":"Genetic disorders of sex development in cats: An update","volume":"216","author":"Szczerbal","year":"2020","journal-title":"Anim. Reprod. Sci."},{"key":"10.1016\/j.ajhg.2025.01.013_bib78","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1101\/gr.154286.112","article-title":"Comparative analysis of mammalian Y chromosomes illuminates ancestral structure and lineage-specific evolution","volume":"23","author":"Li","year":"2013","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2025.01.013_bib79","doi-asserted-by":"crossref","first-page":"3157","DOI":"10.1002\/ajmg.a.37953","article-title":"Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry","volume":"170","author":"Prakash","year":"2016","journal-title":"Am. J. Med. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929725000138?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929725000138?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T01:16:39Z","timestamp":1757121399000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929725000138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3]]},"references-count":79,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["S0002929725000138"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2025.01.013","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2023.03.08.531747","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2025,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network","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.2025.01.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 American Society of Human Genetics. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}