biostudies-literatureUnknown18(1)Liang DShanghai Healthcare Commission ProjectClinical Innovation Project and Academic Climbing Project of Xinhua Hospital, School of Medicine, Shanghai Jiao Tong UniversityFoundation for Innovative Research Groups of the National Natural Science Foundation of ChinaThe National Key R&D Program of ChinaGenome medicine15https://www.ebi.ac.uk/biostudies/studies/S-EPMC12866592biostudies-literatureGenetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.PMC128665928177020020234010323XHCR12B, XKPF2024A100, XKPF2024B1002022YFC27037002022YFC2703400Liu HYu LWu LQiang RWang DLiu PWu CZhang RLiang DLiu YQiu WJin HWang RXia AWang XCui DLiang QZhou JTan MTan JXu RZhou WZhou YLi MSong JChen DPu QZhu MLi ZHuang YMao AHe XXu SfalseGenetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.2025-01-01T00:00:00Z2025 Dec2026-07-15T12:21:10.896Z2026-07-04T03:13:07.838ZS-EPMC128665924146970710.1186/s13073-025-01594-7