{"id":"https://openalex.org/W2937334947","doi":"https://doi.org/10.1007/s00439-019-02008-6","title":"Whole-exome sequencing identified four loci influencing craniofacial morphology in northern Han Chinese","display_name":"Whole-exome sequencing identified four loci influencing craniofacial morphology in northern Han Chinese","publication_year":2019,"publication_date":"2019-04-09","ids":{"openalex":"https://openalex.org/W2937334947","doi":"https://doi.org/10.1007/s00439-019-02008-6","mag":"2937334947","pmid":"https://pubmed.ncbi.nlm.nih.gov/30968251","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6554238"},"language":"en","primary_location":{"id":"doi:10.1007/s00439-019-02008-6","doi":"https://doi.org/10.1007/s00439-019-02008-6","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s00439-019-02008-6","pdf_url":"https://link.springer.com/content/pdf/10.1007/s00439-019-02008-6.pdf","source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://link.springer.com/content/pdf/10.1007/s00439-019-02008-6.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5067234314","display_name":"Wei Wu","orcid":"https://orcid.org/0000-0002-0267-1284","observed_orcids":["https://orcid.org/0000-0002-0267-1284"]},"institutions":[{"id":"https://openalex.org/I85430964","display_name":"Jinzhou Medical University","ror":"https://ror.org/02yd1yr68","country_code":"CN","type":"education","lineage":["https://openalex.org/I85430964"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wei Wu","raw_affiliation_strings":["Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China","School of Humanities and Management, Jinzhou Medical University, Jinzhou, 121001, Liaoning, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":["https://openalex.org/I85430964"]},{"raw_affiliation_string":"Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":[]},{"raw_affiliation_string":"School of Humanities and Management, Jinzhou Medical University, Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":["https://openalex.org/I85430964"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007602413","display_name":"Guiying Zhai","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I85430964","display_name":"Jinzhou Medical University","ror":"https://ror.org/02yd1yr68","country_code":"CN","type":"education","lineage":["https://openalex.org/I85430964"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Guiying Zhai","raw_affiliation_strings":["Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":["https://openalex.org/I85430964"]},{"raw_affiliation_string":"Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077260323","display_name":"Zejun Xu","orcid":"https://orcid.org/0000-0002-3885-0524","observed_orcids":["https://orcid.org/0000-0002-3885-0524"]},"institutions":[{"id":"https://openalex.org/I85430964","display_name":"Jinzhou Medical University","ror":"https://ror.org/02yd1yr68","country_code":"CN","type":"education","lineage":["https://openalex.org/I85430964"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zejun Xu","raw_affiliation_strings":["Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":["https://openalex.org/I85430964"]},{"raw_affiliation_string":"Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Bo Hou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I85430964","display_name":"Jinzhou Medical University","ror":"https://ror.org/02yd1yr68","country_code":"CN","type":"education","lineage":["https://openalex.org/I85430964"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Bo Hou","raw_affiliation_strings":["Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":["https://openalex.org/I85430964"]},{"raw_affiliation_string":"Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051755997","display_name":"Da-Hua Liu","orcid":"https://orcid.org/0000-0002-1231-3616","observed_orcids":["https://orcid.org/0000-0002-1231-3616"]},"institutions":[{"id":"https://openalex.org/I85430964","display_name":"Jinzhou Medical University","ror":"https://ror.org/02yd1yr68","country_code":"CN","type":"education","lineage":["https://openalex.org/I85430964"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Dahua Liu","raw_affiliation_strings":["Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":["https://openalex.org/I85430964"]},{"raw_affiliation_string":"Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100430602","display_name":"Tianyi Liu","orcid":"https://orcid.org/0000-0002-2624-7146","observed_orcids":["https://orcid.org/0000-0002-2624-7146"]},"institutions":[{"id":"https://openalex.org/I123387679","display_name":"Uppsala University","ror":"https://ror.org/048a87296","country_code":"SE","type":"education","lineage":["https://openalex.org/I123387679"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Tianyi Liu","raw_affiliation_strings":["Department of Plastic and Maxillofacial Surgery, Uppsala University, Uppsala, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Plastic and Maxillofacial Surgery, Uppsala University, Uppsala, Sweden","institution_ids":["https://openalex.org/I123387679"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100431996","display_name":"Wei Liu","orcid":"https://orcid.org/0000-0003-4199-5406","observed_orcids":["https://orcid.org/0000-0003-4199-5406"]},"institutions":[{"id":"https://openalex.org/I85430964","display_name":"Jinzhou Medical University","ror":"https://ror.org/02yd1yr68","country_code":"CN","type":"education","lineage":["https://openalex.org/I85430964"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wei Liu","raw_affiliation_strings":["Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":["https://openalex.org/I85430964"]},{"raw_affiliation_string":"Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089081009","display_name":"Fu Ren","orcid":"https://orcid.org/0000-0003-4432-6320","observed_orcids":["https://orcid.org/0000-0003-4432-6320"]},"institutions":[{"id":"https://openalex.org/I85430964","display_name":"Jinzhou Medical University","ror":"https://ror.org/02yd1yr68","country_code":"CN","type":"education","lineage":["https://openalex.org/I85430964"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Fu Ren","raw_affiliation_strings":["Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China. rf@jzmu.edu.cn","Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China. rf@jzmu.edu.cn","Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biological Anthropology Institute, Jinzhou Medical University, No. 40, Section\u00a03, Songpo Road, Linghe District, Jinzhou, 121001, Liaoning, People's Republic of China. rf@jzmu.edu.cn","institution_ids":["https://openalex.org/I85430964"]},{"raw_affiliation_string":"Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China. rf@jzmu.edu.cn","institution_ids":[]},{"raw_affiliation_string":"Liaoning Province Key Laboratory of Chinese Physical Characteristics Research (LPKL-CPCR), Jinzhou, 121001, Liaoning, People's Republic of China","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5089081009"],"corresponding_institution_ids":["https://openalex.org/I85430964"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":{"value":4390,"currency":"USD","value_usd":4390},"fwci":4.2446,"has_fulltext":true,"cited_by_count":39,"citation_normalized_percentile":{"value":0.95052878,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":99},"biblio":{"volume":"138","issue":"6","first_page":"601","last_page":"611"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12417","display_name":"Morphological variations and asymmetry","score":0.6338000297546387,"subfield":{"id":"https://openalex.org/subfields/2608","display_name":"Geometry and Topology"},"field":{"id":"https://openalex.org/fields/26","display_name":"Mathematics"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},"topics":[{"id":"https://openalex.org/T12417","display_name":"Morphological variations and asymmetry","score":0.6338000297546387,"subfield":{"id":"https://openalex.org/subfields/2608","display_name":"Geometry and Topology"},"field":{"id":"https://openalex.org/fields/26","display_name":"Mathematics"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.16429999470710754,"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/T10356","display_name":"Orthodontics and Dentofacial Orthopedics","score":0.05640000104904175,"subfield":{"id":"https://openalex.org/subfields/3505","display_name":"Orthodontics"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/craniofacial-morphology","display_name":"craniofacial morphology","score":1.0},{"id":"https://openalex.org/keywords/facial-shape","display_name":"facial shape","score":0.8740000128746033},{"id":"https://openalex.org/keywords/skull-shape","display_name":"skull shape","score":0.9679999947547913},{"id":"https://openalex.org/keywords/genetic-loci","display_name":"genetic loci","score":0.8700000047683716},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9340000152587891},{"id":"https://openalex.org/keywords/slc28a3","display_name":"SLC28A3","score":1.0},{"id":"https://openalex.org/keywords/nasal-length","display_name":"nasal length","score":0.7820000052452087},{"id":"https://openalex.org/keywords/alar-width","display_name":"alar width","score":0.8080000281333923},{"id":"https://openalex.org/keywords/facial-phenotype","display_name":"facial phenotype","score":0.5730000138282776}],"concepts":[{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.8413971066474915},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8237180113792419},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6841253042221069},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6492972373962402},{"id":"https://openalex.org/C2779300802","wikidata":"https://www.wikidata.org/wiki/Q13147","display_name":"Skull","level":2,"score":0.573375403881073},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5242303013801575},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.514328122138977},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.451350599527359},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4108753800392151},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3902888298034668},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.31181371212005615},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2159518003463745}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005147","descriptor_name":"Facial Bones","qualifier_ui":"Q000033","qualifier_name":"anatomy & histology","is_major_topic":false},{"descriptor_ui":"D005147","descriptor_name":"Facial Bones","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012886","descriptor_name":"Skull","qualifier_ui":"Q000033","qualifier_name":"anatomy & histology","is_major_topic":false},{"descriptor_ui":"D012886","descriptor_name":"Skull","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056426","descriptor_name":"Genetic Loci","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1007/s00439-019-02008-6","doi":"https://doi.org/10.1007/s00439-019-02008-6","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s00439-019-02008-6","pdf_url":"https://link.springer.com/content/pdf/10.1007/s00439-019-02008-6.pdf","source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5554716","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6554238","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:6554238","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6554238","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hum Genet","raw_type":"Text"},{"id":"pmid:30968251","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30968251","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":"Human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:DiVA.org:uu-387733","doi":null,"is_oa":true,"landing_page_url":"http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-387733","pdf_url":null,"source":{"id":"https://openalex.org/S4306402042","display_name":"Uppsala University Publications (Uppsala University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I123387679","host_organization_name":"Uppsala University","host_organization_lineage":["https://openalex.org/I123387679"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1007/s00439-019-02008-6","doi":"https://doi.org/10.1007/s00439-019-02008-6","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s00439-019-02008-6","pdf_url":"https://link.springer.com/content/pdf/10.1007/s00439-019-02008-6.pdf","source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.504800021648407}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320311737","display_name":"Northumbria University","ror":"https://ror.org/049e6bc10"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2937334947.pdf","grobid_xml":"https://content.openalex.org/works/W2937334947.grobid-xml"},"referenced_works_count":40,"referenced_works":["https://openalex.org/W114703522","https://openalex.org/W1972895757","https://openalex.org/W1973377378","https://openalex.org/W1980168725","https://openalex.org/W1986781220","https://openalex.org/W2003583552","https://openalex.org/W2016317262","https://openalex.org/W2017512236","https://openalex.org/W2020152849","https://openalex.org/W2021918494","https://openalex.org/W2036807548","https://openalex.org/W2044293966","https://openalex.org/W2044761749","https://openalex.org/W2058884235","https://openalex.org/W2061135398","https://openalex.org/W2078118580","https://openalex.org/W2078803230","https://openalex.org/W2082764392","https://openalex.org/W2101017561","https://openalex.org/W2102162967","https://openalex.org/W2104946066","https://openalex.org/W2110052863","https://openalex.org/W2112928752","https://openalex.org/W2118890802","https://openalex.org/W2125042717","https://openalex.org/W2137396992","https://openalex.org/W2145501904","https://openalex.org/W2148642285","https://openalex.org/W2149993963","https://openalex.org/W2159418970","https://openalex.org/W2289209130","https://openalex.org/W2507499468","https://openalex.org/W2509581937","https://openalex.org/W2518076847","https://openalex.org/W2585358131","https://openalex.org/W2609007680","https://openalex.org/W2738051399","https://openalex.org/W2789017128","https://openalex.org/W2809490239","https://openalex.org/W2950662663"],"related_works":["https://openalex.org/W2118890802","https://openalex.org/W3103873702","https://openalex.org/W2809490239","https://openalex.org/W2503298701","https://openalex.org/W3125140507","https://openalex.org/W2518076847","https://openalex.org/W3113354915","https://openalex.org/W2609294268","https://openalex.org/W2789017128","https://openalex.org/W4220656641"],"abstract_inverted_index":{"Facial":[0],"shape":[1,126,150],"differences":[2],"are":[3,99],"one":[4],"of":[5,25,54,66,71,256],"the":[6,22,26,55,67,83,92,124,148,162,170,183,191,199,207,214,225,235,243,254],"most":[7],"significant":[8],"phenotypes":[9,73],"in":[10,44,114,138,161,182,206,234],"humans.":[11],"It":[12],"is":[13],"affected":[14],"largely":[15],"by":[16],"skull":[17,125],"shape.":[18],"However,":[19],"research":[20],"into":[21],"genetic":[23,39,87,251],"basis":[24],"craniofacial":[27,42,93],"morphology":[28,43],"has":[29],"rarely":[30],"been":[31],"reported.":[32],"The":[33,95,157,178,202,228],"present":[34],"study":[35],"aimed":[36],"to":[37],"identify":[38],"variants":[40],"influencing":[41],"northern":[45],"Han":[46],"Chinese":[47],"through":[48,62],"whole-exome":[49],"sequencing":[50],"(WES).":[51],"Phenotypic":[52],"data":[53],"volunteers\u2019":[56],"faces":[57],"and":[58,76,105,118,133,142,175,196,222,230],"skulls":[59],"were":[60,80,89,120,144],"obtained":[61],"three-dimensional":[63],"CT":[64],"scan":[65],"skull.":[68],"A":[69],"total":[70],"48":[72],"(35":[74],"facial":[75,149],"13":[77],"cranial":[78],"phenotypes)":[79],"used":[81],"for":[82,253],"bioinformatics":[84],"analysis.":[85],"Four":[86,108],"loci":[88],"identified":[90],"affecting":[91],"shapes.":[94],"four":[96],"candidate":[97],"genes":[98],"RGPD3":[100,115,139,163],",":[101,103,116,140],"IGSF3":[102,184],"SLC28A3,":[104],"USP40":[106,119,236],".":[107],"single-nucleotide":[109],"polymorphism":[110],"(SNP)":[111],"site":[112,136,159,180,204,232],"mutations":[113,137,233],"IGSF3,":[117,141],"significantly":[121,145],"associated":[122,146,168,189,212,241],"with":[123,147,169,190,213,242],"(":[127,151],"p":[128,152],"<":[129,153],"1\u00d710":[130,154],"\u22126":[131,155],"),":[132],"three":[134],"SNP":[135],"SLC28A3":[143,208],").":[156],"rs62152530":[158],"mutation":[160,181,205],"gene":[164,185,209,237],"may":[165,186,210,238],"be":[166,187,211,239],"closely":[167,188,240],"nasal":[171,192,215],"length,":[172,174,193,216],"ear":[173],"alar":[176,217],"width.":[177,246],"rs647711":[179],"mandibular":[194],"width,":[195,218],"width":[197,219,223],"between":[198,220,224],"mental":[200,226],"foramina.":[201,227],"rs10868138":[203],"tragus,":[221],"rs1048603":[229],"rs838543":[231],"pyriform":[244],"aperture":[245],"Our":[247],"findings":[248],"provide":[249],"useful":[250],"information":[252],"determination":[255],"face":[257],"morphology.":[258]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":11},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2019-04-25T00:00:00"}