{"id":"https://openalex.org/W4413431985","doi":"https://doi.org/10.1155/humu/9290736","title":"Optical Genomic Mapping and Next\u2010Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting PARN Gene in Dyskeratosis Congenita","display_name":"Optical Genomic Mapping and Next\u2010Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting PARN Gene in Dyskeratosis Congenita","publication_year":2025,"publication_date":"2025-01-01","ids":{"openalex":"https://openalex.org/W4413431985","doi":"https://doi.org/10.1155/humu/9290736","pmid":"https://pubmed.ncbi.nlm.nih.gov/40896794","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12396913"},"language":"en","primary_location":{"id":"doi:10.1155/humu/9290736","doi":"https://doi.org/10.1155/humu/9290736","is_oa":true,"landing_page_url":"https://doi.org/10.1155/humu/9290736","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/humu/9290736","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"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 Mutation","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/humu/9290736","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5045346288","display_name":"Qiaoyu Cao","orcid":"https://orcid.org/0009-0002-2902-4367","observed_orcids":["https://orcid.org/0009-0002-2902-4367"]},"institutions":[{"id":"https://openalex.org/I4210159329","display_name":"Children's Hospital of Fudan University","ror":"https://ror.org/05n13be63","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159329"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Qiaoyu Cao","raw_affiliation_strings":["Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China"],"raw_orcid":"https://orcid.org/0009-0002-2902-4367","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China","institution_ids":["https://openalex.org/I4210159329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114120063","display_name":"Anqi Zhao","orcid":"https://orcid.org/0009-0003-5270-7286","observed_orcids":["https://orcid.org/0009-0003-5270-7286"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Anqi Zhao","raw_affiliation_strings":["Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China"],"raw_orcid":"https://orcid.org/0009-0003-5270-7286","affiliations":[{"raw_affiliation_string":"Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China","institution_ids":["https://openalex.org/I183067930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023545182","display_name":"Zhoukai Long","orcid":"https://orcid.org/0000-0002-9893-5976","observed_orcids":["https://orcid.org/0000-0002-9893-5976"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zhoukai Long","raw_affiliation_strings":["Shanghai We Health Biomedical Technology Co. Ltd., Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shanghai We Health Biomedical Technology Co. Ltd., Shanghai, China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5115595624","display_name":"Xinyi Wang","orcid":"https://orcid.org/0009-0006-0731-6069","observed_orcids":["https://orcid.org/0009-0006-0731-6069","https://orcid.org/0009-0001-7217-3467"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xinyi Wang","raw_affiliation_strings":["Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China","institution_ids":["https://openalex.org/I183067930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020944592","display_name":"Chaolan Pan","orcid":"https://orcid.org/0000-0003-3378-4676","observed_orcids":["https://orcid.org/0000-0003-3378-4676"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chaolan Pan","raw_affiliation_strings":["Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China","institution_ids":["https://openalex.org/I183067930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041955952","display_name":"Yumeng Wang","orcid":"https://orcid.org/0000-0002-5298-3171","observed_orcids":["https://orcid.org/0000-0002-5298-3171"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yumeng Wang","raw_affiliation_strings":["Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China"],"raw_orcid":"https://orcid.org/0000-0002-5298-3171","affiliations":[{"raw_affiliation_string":"Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China","institution_ids":["https://openalex.org/I183067930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100573117","display_name":"Wei He","orcid":"https://orcid.org/0009-0007-7092-0231","observed_orcids":["https://orcid.org/0009-0007-7092-0231"]},"institutions":[{"id":"https://openalex.org/I4210159329","display_name":"Children's Hospital of Fudan University","ror":"https://ror.org/05n13be63","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159329"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wei He","raw_affiliation_strings":["Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China","institution_ids":["https://openalex.org/I4210159329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024647618","display_name":"Haisheng Huang","orcid":"https://orcid.org/0000-0001-5077-1354","observed_orcids":["https://orcid.org/0000-0001-5077-1354","https://orcid.org/0009-0002-0027-4442"]},"institutions":[{"id":"https://openalex.org/I4210159329","display_name":"Children's Hospital of Fudan University","ror":"https://ror.org/05n13be63","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159329"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Haisheng Huang","raw_affiliation_strings":["Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China","institution_ids":["https://openalex.org/I4210159329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084535363","display_name":"Fuying Chen","orcid":"https://orcid.org/0000-0002-7439-4845","observed_orcids":["https://orcid.org/0000-0002-7439-4845"]},"institutions":[{"id":"https://openalex.org/I4210159329","display_name":"Children's Hospital of Fudan University","ror":"https://ror.org/05n13be63","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159329"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Fuying Chen","raw_affiliation_strings":["Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China"],"raw_orcid":"https://orcid.org/0000-0002-7439-4845","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China","institution_ids":["https://openalex.org/I4210159329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065580689","display_name":"Chenfei Wang","orcid":"https://orcid.org/0000-0001-7573-3768","observed_orcids":["https://orcid.org/0000-0001-7573-3768"]},"institutions":[{"id":"https://openalex.org/I4210159329","display_name":"Children's Hospital of Fudan University","ror":"https://ror.org/05n13be63","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159329"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chenfei Wang","raw_affiliation_strings":["Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China","institution_ids":["https://openalex.org/I4210159329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100355054","display_name":"Xiaoxiao Wang","orcid":"https://orcid.org/0009-0003-9954-156X","observed_orcids":["https://orcid.org/0009-0003-9954-156X","https://orcid.org/0000-0001-6925-1076"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaoxiao Wang","raw_affiliation_strings":["Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China","institution_ids":["https://openalex.org/I183067930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050968800","display_name":"Luming Sun","orcid":"https://orcid.org/0000-0001-8467-0383","observed_orcids":["https://orcid.org/0000-0001-8467-0383"]},"institutions":[{"id":"https://openalex.org/I116953780","display_name":"Tongji University","ror":"https://ror.org/03rc6as71","country_code":"CN","type":"education","lineage":["https://openalex.org/I116953780"]},{"id":"https://openalex.org/I4210153623","display_name":"Shanghai First Maternity and Infant Hospital","ror":"https://ror.org/05myyzn85","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210153623"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Luming Sun","raw_affiliation_strings":["Department of Fetal Medicine, Shanghai First Maternity and Infant Hospital, Tongji University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Fetal Medicine, Shanghai First Maternity and Infant Hospital, Tongji University, Shanghai, China","institution_ids":["https://openalex.org/I116953780","https://openalex.org/I4210153623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062111414","display_name":"Jingjun Zhao","orcid":"https://orcid.org/0000-0003-0132-0324","observed_orcids":["https://orcid.org/0000-0003-0132-0324"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jingjun Zhao","raw_affiliation_strings":["Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China","institution_ids":["https://openalex.org/I183067930"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100351519","display_name":"Ming Li","orcid":"https://orcid.org/0000-0003-3053-2756","observed_orcids":["https://orcid.org/0000-0003-3053-2756","https://orcid.org/0000-0001-8239-2914"]},"institutions":[{"id":"https://openalex.org/I4210159329","display_name":"Children's Hospital of Fudan University","ror":"https://ror.org/05n13be63","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159329"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Ming Li","raw_affiliation_strings":["Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China"],"raw_orcid":"https://orcid.org/0000-0003-3053-2756","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China","institution_ids":["https://openalex.org/I4210159329"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5100351519"],"corresponding_institution_ids":["https://openalex.org/I4210159329"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":{"value":2740,"currency":"USD","value_usd":2740},"fwci":1.1712,"has_fulltext":true,"cited_by_count":3,"citation_normalized_percentile":{"value":0.72167774,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":97},"biblio":{"volume":"2025","issue":"1","first_page":"9290736","last_page":"9290736"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9101999998092651,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9101999998092651,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.03590000048279762,"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/T12919","display_name":"Blood disorders and treatments","score":0.010200000368058681,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/dyskeratosis-congenita","display_name":"dyskeratosis congenita","score":1.0},{"id":"https://openalex.org/keywords/retrotransposon-insertion","display_name":"retrotransposon insertion","score":0.9380000233650208},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.878000020980835},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9139999747276306},{"id":"https://openalex.org/keywords/premature-termination-codon","display_name":"premature stop codon","score":0.7979999780654907},{"id":"https://openalex.org/keywords/telomere-biology","display_name":"telomere biology","score":0.7419999837875366},{"id":"https://openalex.org/keywords/bone-marrow-failure","display_name":"bone marrow failure","score":0.8519999980926514},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.5419999957084656}],"concepts":[{"id":"https://openalex.org/C2779285011","wikidata":"https://www.wikidata.org/wiki/Q3709312","display_name":"Dyskeratosis congenita","level":4,"score":0.8952206373214722},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8196842670440674},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.782289445400238},{"id":"https://openalex.org/C7029365","wikidata":"https://www.wikidata.org/wiki/Q413988","display_name":"Retrotransposon","level":5,"score":0.722093939781189},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6756337881088257},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5060412287712097},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.21125248074531555},{"id":"https://openalex.org/C177336024","wikidata":"https://www.wikidata.org/wiki/Q14872779","display_name":"Telomere","level":3,"score":0.1737818419933319},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.13936686515808105},{"id":"https://openalex.org/C4918238","wikidata":"https://www.wikidata.org/wiki/Q121438","display_name":"Transposable element","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016254","descriptor_name":"Mutagenesis, Insertional","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019871","descriptor_name":"Dyskeratosis Congenita","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D019871","descriptor_name":"Dyskeratosis Congenita","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1155/humu/9290736","doi":"https://doi.org/10.1155/humu/9290736","is_oa":true,"landing_page_url":"https://doi.org/10.1155/humu/9290736","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/humu/9290736","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"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 Mutation","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:11204863","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12396913","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":"pmid:40896794","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40896794","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 mutation","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12396913","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12396913/","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 Mutat","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1155/humu/9290736","doi":"https://doi.org/10.1155/humu/9290736","is_oa":true,"landing_page_url":"https://doi.org/10.1155/humu/9290736","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/humu/9290736","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"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 Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4413431985.pdf","grobid_xml":"https://content.openalex.org/works/W4413431985.grobid-xml"},"referenced_works_count":22,"referenced_works":["https://openalex.org/W1998165054","https://openalex.org/W1998739058","https://openalex.org/W2047366355","https://openalex.org/W2051541780","https://openalex.org/W2072242596","https://openalex.org/W2179796260","https://openalex.org/W2252902406","https://openalex.org/W2270451991","https://openalex.org/W2953363856","https://openalex.org/W2990399210","https://openalex.org/W3012255766","https://openalex.org/W3030662270","https://openalex.org/W3090300229","https://openalex.org/W3129925170","https://openalex.org/W3201607496","https://openalex.org/W4230962357","https://openalex.org/W4252696765","https://openalex.org/W4296355266","https://openalex.org/W4296838141","https://openalex.org/W4385605689","https://openalex.org/W4401939147","https://openalex.org/W4410866036"],"related_works":["https://openalex.org/W4413766940","https://openalex.org/W7220724811","https://openalex.org/W4366242358","https://openalex.org/W2799630710","https://openalex.org/W4412152601","https://openalex.org/W4295094263","https://openalex.org/W2588832503","https://openalex.org/W2946750867","https://openalex.org/W7197052864","https://openalex.org/W2047524988"],"abstract_inverted_index":{"Dyskeratosis":[0],"congenita":[1],"(DC)":[2],"is":[3],"an":[4],"inherited":[5],"bone":[6],"marrow":[7],"failure":[8],"syndrome":[9],"characterized":[10],"by":[11,102],"defects":[12],"in":[13,93,181],"telomere":[14],"biology":[15],"and":[16,26,45,65,74,104,119,175],"clinical":[17,183],"manifestations":[18],"such":[19],"as":[20],"nail":[21],"dystrophy,":[22],"skin":[23],"pigmentation":[24],"abnormalities,":[25],"mucosal":[27],"leukoplakia.":[28],"Here,":[29],"using":[30],"whole":[31,35],"exome":[32],"sequencing":[33,37,41,108],"(WES),":[34],"genome":[36],"(WGS),":[38],"optical":[39],"mapping":[40],"(OGM),":[42],"third\u2010generation":[43],"sequencing,":[44,47],"mRNA":[46,105],"we":[48],"diagnosed":[49,151],"a":[50,83,130,170,182],"participant":[51,157],"with":[52,158],"PARN":[53,79,85,95,136],"gene":[54,96],"complex":[55,146],"compound":[56],"heterozygous":[57,147],"variants.":[58,148],"In":[59],"addition,":[60],"protein":[61,137],"structure":[62,73],"simulation,":[63],"immunohistochemistry,":[64],"western":[66],"blot":[67],"were":[68],"conducted":[69],"to":[70,127,129,145],"investigate":[71],"the":[72,78,94,98,111,115,140,152,156,161,176],"expression":[75],"level":[76,138],"of":[77,114,139,155,165,178],"protein.":[80],"WES":[81],"revealed":[82],"maternal":[84],"variant,":[86],"c.204G>T":[87],"(p.Gln68His)":[88],"(NM_002582.3).":[89],"An":[90],"insertion":[91,112],"variant":[92,163,174],"from":[97],"father":[99],"was":[100,125,142],"identified":[101],"OGM":[103,150],"sequencing.":[106],"Third\u2010generation":[107],"results":[109],"determined":[110],"position":[113],"SINE\u2010VNTR\u2010Alu":[116],"(SVA)":[117],"transposon":[118,179],"its":[120],"size":[121],"(2537":[122],"bp),":[123],"which":[124],"found":[126],"lead":[128],"premature":[131],"stop":[132],"codon":[133],"(p.Gly469delinsGlu\u2217).":[134],"The":[135],"parents":[141],"reduced":[143],"due":[144],"Overall,":[149],"structural":[153,173],"variants":[154],"DC,":[159],"supplementing":[160],"disease":[162],"spectrum":[164],"DC.":[166],"This":[167],"case":[168],"highlights":[169],"novel":[171],"disease\u2010causing":[172],"importance":[177],"analysis":[180],"diagnostic":[184],"setting.":[185]},"counts_by_year":[{"year":2026,"cited_by_count":3}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2025-10-10T00:00:00"}