{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["18(1)"],"submitter":["Liang D"],"funding":["Shanghai Healthcare Commission Project","Clinical Innovation Project and Academic Climbing Project of Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University","Foundation for Innovative Research Groups of the National Natural Science Foundation of China","The National Key R&D Program of China"],"journal":["Genome medicine"],"pagination":["15"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12866592"],"repository":["biostudies-literature"],"pubmed_title":["Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns."],"pmcid":["PMC12866592"],"funding_grant_id":["81770200","202340103","23XHCR12B, XKPF2024A100, XKPF2024B100","2022YFC2703700","2022YFC2703400"],"pubmed_authors":["Liu H","Yu L","Wu L","Qiang R","Wang D","Liu P","Wu C","Zhang R","Liang D","Liu Y","Qiu W","Jin H","Wang R","Xia A","Wang X","Cui D","Liang Q","Zhou J","Tan M","Tan J","Xu R","Zhou W","Zhou Y","Li M","Song J","Chen D","Pu Q","Zhu M","Li Z","Huang Y","Mao A","He X","Xu S"],"additional_accession":[]},"is_claimable":false,"name":"Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.","description":null,"dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-07-15T12:21:10.896Z","creation":"2026-07-04T03:13:07.838Z"},"accession":"S-EPMC12866592","cross_references":{"pubmed":["41469707"],"doi":["10.1186/s13073-025-01594-7"]}}