{"id":"https://openalex.org/W2952844322","doi":"https://doi.org/10.1091/mbc.e18-06-0359","title":"Effects of human sex chromosome dosage on spatial chromosome organization","display_name":"Effects of human sex chromosome dosage on spatial chromosome organization","publication_year":2018,"publication_date":"2018-08-09","ids":{"openalex":"https://openalex.org/W2952844322","doi":"https://doi.org/10.1091/mbc.e18-06-0359","mag":"2952844322","pmid":"https://pubmed.ncbi.nlm.nih.gov/30091656","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6233059"},"language":"en","primary_location":{"id":"doi:10.1091/mbc.e18-06-0359","doi":"https://doi.org/10.1091/mbc.e18-06-0359","is_oa":false,"landing_page_url":"https://doi.org/10.1091/mbc.e18-06-0359","pdf_url":null,"source":{"id":"https://openalex.org/S188085164","display_name":"Molecular Biology of the Cell","issn_l":"1059-1524","issn":["1059-1524","1939-4586"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319721","host_organization_name":"American Society for Cell Biology","host_organization_lineage":["https://openalex.org/P4310319721"],"host_organization_lineage_names":["American Society for Cell Biology"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Biology of the Cell","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.biorxiv.org/content/biorxiv/early/2018/06/13/346742.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5060284320","display_name":"Ziad Mohamoud Jowhar","orcid":"https://orcid.org/0000-0002-3536-079X","observed_orcids":["https://orcid.org/0000-0002-3536-079X"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ziad Jowhar","raw_affiliation_strings":["Cell Biology of Genomes Group, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cell Biology of Genomes Group, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009532726","display_name":"Sigal Shachar","orcid":"https://orcid.org/0000-0003-3868-245X","observed_orcids":["https://orcid.org/0000-0003-3868-245X"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sigal Shachar","raw_affiliation_strings":["Cell Biology of Genomes Group, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cell Biology of Genomes Group, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068810746","display_name":"Prabhakar R. Gudla","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Prabhakar R. Gudla","raw_affiliation_strings":["High-Throughput Imaging Facility, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"High-Throughput Imaging Facility, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074997587","display_name":"Darawalee Wangsa","orcid":"https://orcid.org/0000-0001-8585-3077","observed_orcids":["https://orcid.org/0000-0001-8585-3077"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Darawalee Wangsa","raw_affiliation_strings":["Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013962429","display_name":"Erin N. Torres","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210158500","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210158500"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Erin Torres","raw_affiliation_strings":["Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210158500"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001854998","display_name":"Jill L. Russ","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210158500","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210158500"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jill L. Russ","raw_affiliation_strings":["Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210158500"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041664595","display_name":"Gianluca Pegoraro","orcid":"https://orcid.org/0000-0003-2843-9464","observed_orcids":["https://orcid.org/0000-0003-2843-9464"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gianluca Pegoraro","raw_affiliation_strings":["High-Throughput Imaging Facility, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"High-Throughput Imaging Facility, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031392514","display_name":"Thomas Ried","orcid":"https://orcid.org/0000-0002-0767-6009","observed_orcids":["https://orcid.org/0000-0002-0767-6009"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas Ried","raw_affiliation_strings":["Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059250686","display_name":"Armin Raznahan","orcid":"https://orcid.org/0000-0002-5622-1190","observed_orcids":["https://orcid.org/0000-0002-5622-1190"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210158500","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210158500"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Armin Raznahan","raw_affiliation_strings":["Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210158500"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033590861","display_name":"Tom Misteli","orcid":"https://orcid.org/0000-0003-3530-3020","observed_orcids":["https://orcid.org/0000-0003-3530-3020","https://orcid.org/0000-0002-4450-2569"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Tom Misteli","raw_affiliation_strings":["Cell Biology of Genomes Group, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cell Biology of Genomes Group, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5033590861","https://openalex.org/A5059250686"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210158500"],"apc_list":null,"apc_paid":null,"fwci":1.5276,"has_fulltext":false,"cited_by_count":23,"citation_normalized_percentile":{"value":0.8308542,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"29","issue":"20","first_page":"2458","last_page":"2469"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.6606000065803528,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.6606000065803528,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.3176000118255615,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10434","display_name":"Chromosomal and Genetic Variations","score":0.004699999932199717,"subfield":{"id":"https://openalex.org/subfields/1110","display_name":"Plant Science"},"field":{"id":"https://openalex.org/fields/11","display_name":"Agricultural and Biological Sciences"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/sex-chromosome-aneuploidy","display_name":"sex chromosome aneuploidy","score":0.9810000061988831},{"id":"https://openalex.org/keywords/sex-chromosome-dosage","display_name":"sex chromosome dosage","score":0.871999979019165},{"id":"https://openalex.org/keywords/chromosome-organization","display_name":"chromosome organization","score":0.7229999899864197},{"id":"https://openalex.org/keywords/chromatin-condensation","display_name":"chromatin condensation","score":0.9210000038146973},{"id":"https://openalex.org/keywords/dosage-compensation","display_name":"dosage compensation","score":0.7390000224113464},{"id":"https://openalex.org/keywords/nuclear-organization","display_name":"nuclear organization","score":0.5400000214576721},{"id":"https://openalex.org/keywords/primary-batteries","display_name":"primary cells","score":0.5070000290870667}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8188313245773315},{"id":"https://openalex.org/C92509807","wikidata":"https://www.wikidata.org/wiki/Q13417137","display_name":"Dosage compensation","level":4,"score":0.7122534513473511},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.6942009925842285},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6254106163978577},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.49619990587234497},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.4869345426559448},{"id":"https://openalex.org/C24144980","wikidata":"https://www.wikidata.org/wiki/Q780468","display_name":"Chromosome 18","level":4,"score":0.46400442719459534},{"id":"https://openalex.org/C163588314","wikidata":"https://www.wikidata.org/wiki/Q742870","display_name":"Chromosome 16","level":4,"score":0.46334630250930786},{"id":"https://openalex.org/C167752854","wikidata":"https://www.wikidata.org/wiki/Q220677","display_name":"Chromosome 17 (human)","level":4,"score":0.4445619583129883},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.4430108666419983},{"id":"https://openalex.org/C178108356","wikidata":"https://www.wikidata.org/wiki/Q7240230","display_name":"Premature chromosome condensation","level":4,"score":0.440155029296875},{"id":"https://openalex.org/C177658893","wikidata":"https://www.wikidata.org/wiki/Q847102","display_name":"Chromosome 12","level":4,"score":0.43857407569885254},{"id":"https://openalex.org/C54815482","wikidata":"https://www.wikidata.org/wiki/Q753805","display_name":"Chromosome 22","level":4,"score":0.4352436363697052},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4322391450405121},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17147457599639893}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000782","descriptor_name":"Aneuploidy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002467","descriptor_name":"Cell Nucleus","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002887","descriptor_name":"Chromosomes, Human, Pair 18","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004303","descriptor_name":"Dosage Compensation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012730","descriptor_name":"Sex Chromosomes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D041322","descriptor_name":"Chromosomes, Human, Y","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D049951","descriptor_name":"X Chromosome Inactivation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D062085","descriptor_name":"RNA, Long Noncoding","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1091/mbc.e18-06-0359","doi":"https://doi.org/10.1091/mbc.e18-06-0359","is_oa":false,"landing_page_url":"https://doi.org/10.1091/mbc.e18-06-0359","pdf_url":null,"source":{"id":"https://openalex.org/S188085164","display_name":"Molecular Biology of the Cell","issn_l":"1059-1524","issn":["1059-1524","1939-4586"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319721","host_organization_name":"American Society for Cell Biology","host_organization_lineage":["https://openalex.org/P4310319721"],"host_organization_lineage_names":["American Society for Cell Biology"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Biology of the Cell","raw_type":"journal-article"},{"id":"doi:10.1101/346742","doi":"https://doi.org/10.1101/346742","is_oa":true,"landing_page_url":"https://doi.org/10.1101/346742","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2018/06/13/346742.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},{"id":"pmh:oai:europepmc.org:5262963","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6233059","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:6233059","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6233059","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Biol Cell","raw_type":"Text"},{"id":"pmid:30091656","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30091656","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular biology of the cell","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1101/346742","doi":"https://doi.org/10.1101/346742","is_oa":true,"landing_page_url":"https://doi.org/10.1101/346742","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2018/06/13/346742.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"score":0.4043000042438507,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320338458","display_name":"Center for Biomedical Informatics and Information Technology, National Cancer Institute","ror":null}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2952844322.pdf","grobid_xml":"https://content.openalex.org/works/W2952844322.grobid-xml"},"referenced_works_count":77,"referenced_works":["https://openalex.org/W1502307568","https://openalex.org/W1526580148","https://openalex.org/W1535005173","https://openalex.org/W1901129140","https://openalex.org/W1903029394","https://openalex.org/W1970952602","https://openalex.org/W1973322775","https://openalex.org/W1973445288","https://openalex.org/W1976060096","https://openalex.org/W1977943782","https://openalex.org/W1978661176","https://openalex.org/W1989447750","https://openalex.org/W1994363917","https://openalex.org/W2003114305","https://openalex.org/W2004000260","https://openalex.org/W2009207591","https://openalex.org/W2022675544","https://openalex.org/W2028003321","https://openalex.org/W2029146706","https://openalex.org/W2036700061","https://openalex.org/W2047497520","https://openalex.org/W2050778299","https://openalex.org/W2053600810","https://openalex.org/W2056458596","https://openalex.org/W2060199527","https://openalex.org/W2064038671","https://openalex.org/W2069124192","https://openalex.org/W2072679514","https://openalex.org/W2073118629","https://openalex.org/W2080615813","https://openalex.org/W2081983661","https://openalex.org/W2083758563","https://openalex.org/W2084500337","https://openalex.org/W2092499706","https://openalex.org/W2093721295","https://openalex.org/W2098549100","https://openalex.org/W2099077663","https://openalex.org/W2102462903","https://openalex.org/W2103419911","https://openalex.org/W2105447386","https://openalex.org/W2106962105","https://openalex.org/W2107065535","https://openalex.org/W2109789019","https://openalex.org/W2111473969","https://openalex.org/W2112535875","https://openalex.org/W2115685806","https://openalex.org/W2115795607","https://openalex.org/W2120951141","https://openalex.org/W2121930828","https://openalex.org/W2122617439","https://openalex.org/W2123066359","https://openalex.org/W2125428943","https://openalex.org/W2131919089","https://openalex.org/W2131938193","https://openalex.org/W2136417358","https://openalex.org/W2138657939","https://openalex.org/W2144561973","https://openalex.org/W2146427646","https://openalex.org/W2160908077","https://openalex.org/W2162633623","https://openalex.org/W2170516826","https://openalex.org/W2188378697","https://openalex.org/W2395611524","https://openalex.org/W2478712512","https://openalex.org/W2480337653","https://openalex.org/W2524555062","https://openalex.org/W2595560054","https://openalex.org/W2600740673","https://openalex.org/W2603789288","https://openalex.org/W2752333387","https://openalex.org/W2769192984","https://openalex.org/W2949507537","https://openalex.org/W2950227400","https://openalex.org/W2951201256","https://openalex.org/W3021033352","https://openalex.org/W3023433521","https://openalex.org/W4235636622"],"related_works":["https://openalex.org/W4361218701","https://openalex.org/W2949507537","https://openalex.org/W2068538159","https://openalex.org/W7155060298","https://openalex.org/W2166274338","https://openalex.org/W7117537878","https://openalex.org/W2217203479","https://openalex.org/W4281698501","https://openalex.org/W4382932140","https://openalex.org/W2159311388"],"abstract_inverted_index":{"Sex":[0],"chromosome":[1,64,89,97,111,121,153,156,189,199],"aneuploidies":[2],"(SCAs)":[3],"are":[4,44],"common":[5],"genetic":[6],"syndromes":[7],"characterized":[8],"by":[9,84,135],"the":[10,28,36,49,102,109,118],"presence":[11],"of":[12,16,32,39,51,63,70,79,86,108,128,148,167,195],"an":[13,113,141],"aberrant":[14],"number":[15,132],"X":[17,80,96,120,130],"and":[18,30,81,140,191],"Y":[19,82,110,152,155],"chromosomes":[20,83,168],"due":[21],"to":[22,47,185,193],"meiotic":[23],"defects.":[24],"These":[25],"conditions":[26],"impact":[27],"structure":[29],"function":[31,127],"diverse":[33],"tissues,":[34],"but":[35],"proximal":[37],"effects":[38],"SCAs":[40,52],"on":[41,53,198],"genome":[42,55,181],"organization":[43,65],"unknown.":[45],"Here,":[46],"determine":[48],"consequences":[50],"global":[54],"organization,":[56],"we":[57],"have":[58],"analyzed":[59],"multiple":[60],"architectural":[61,123],"features":[62],"in":[66,138,143,171,180,183,187],"a":[67,126,136],"comprehensive":[68],"set":[69],"primary":[71],"cells":[72],"from":[73],"SCA":[74,172],"patients":[75],"with":[76],"various":[77],"ratios":[78],"use":[85],"imaging-based":[87],"high-throughput":[88],"territory":[90],"mapping":[91],"(HiCTMap).":[92],"We":[93],"find":[94],"that":[95],"supernumeracy":[98],"does":[99],"not":[100],"affect":[101],"size,":[103],"volume,":[104],"or":[105,112],"nuclear":[106],"position":[107],"autosomal":[114],"chromosome.":[115],"In":[116,151],"contrast,":[117],"active":[119],"undergoes":[122],"changes":[124,179],"as":[125,133],"increasing":[129],"copy":[131],"measured":[134],"decrease":[137],"size":[139,157],"increase":[142],"circularity,":[144],"which":[145],"is":[146,158,169],"indicative":[147],"chromatin":[149,162],"compaction.":[150],"supernumeracy,":[154],"reduced":[159],"suggesting":[160],"higher":[161],"condensation.":[163],"The":[164],"radial":[165],"positioning":[166],"unaffected":[170],"karyotypes.":[173],"Taken":[174],"together,":[175],"these":[176],"observations":[177],"document":[178],"architecture":[182],"response":[184],"alterations":[186],"sex":[188],"numbers":[190],"point":[192],"trans-effects":[194],"dosage":[196],"compensation":[197],"organization.":[200]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2019-06-27T00:00:00"}