Associated Papers
Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.
Dubey S et al.
Indian Journal of Pediatrics, 2026
Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.
Liang D et al.
Genome Medicine, 2025
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience.
Jia X et al.
International Journal of Neonatal Screening, 2025
21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation.
Olthof A et al.
Archives of Disease in Childhood, 2025
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.
Nguyen KN et al.
Annals of Pediatric Endocrinology & Metabolism, 2025
Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.
Yang Y et al.
Orphanet Journal of Rare Diseases, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.
Schernthaner-Reiter MH et al.
European Journal of Endocrinology, 2025
Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation.
Zhang X et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project.
Xi AMC et al.
Briefings in Bioinformatics, 2025
Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.
Ng HY et al.
Hgg Advances, 2025
High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.
Claps A et al.
Scientific Reports, 2025
Longitudinal 12-Month Follow-Up of a Male Infant with CYP21A2 Compound Heterozygous Genotype in China: A Case Report.
Yin Y et al.
Ajp Reports, 2025
Combination therapy of GnRHa, RhGH and anastrozole to improve final adult height deficit in CAH children with CPP.
Liu X et al.
Bmc Pediatrics, 2025
Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?
Sarafoglou K et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.
Wang X et al.
International Journal of Neonatal Screening, 2025
Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.
Li S et al.
Journal of Translational Medicine, 2025
Early genetic sequencing in neonates with hyperkalemia: a retrospective cross-sectional study.
Liang W et al.
Translational Pediatrics, 2025
Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia.
Monlong J et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.
Concolino P et al.
Journal of the Endocrine Society, 2025
Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.
Suwanlikit Y et al.
Bmc Medical Genomics, 2025
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort.
Wang R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Wang Y et al.
Human Genomics, 2025
Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency
Odabaşı Güneş S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia.
Aldalaan H et al.
Frontiers in Endocrinology, 2025
Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology.
Chen Y et al.
Risk Management and Healthcare Policy, 2025
Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics.
Chong H et al.
Frontiers in Endocrinology, 2025
Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.
Graves LE et al.
Frontiers in Endocrinology, 2025
Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient.
Casiraghi A et al.
Frontiers in Endocrinology, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Long-Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree.
Chen X et al.
Molecular Genetics & Genomic Medicine, 2024
Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.
Xia Y et al.
Orphanet Journal of Rare Diseases, 2024
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.
Karlekar M et al.
Indian Pediatrics, 2024
A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene.
Tan J et al.
Heliyon, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Genetics of 21-OH Deficiency and Genotype-Phenotype Correlation: Experience of the Hellenic National Referral Center.
Fylaktou I et al.
Current Issues in Molecular Biology, 2024
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
Zhang X et al.
Journal of Endocrinological Investigation, 2024