Associated Papers
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
41469707 (PubMed )
Supplement: 13073_2025_1594_MOESM1_ESM.pdf
Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-Hydroxylase Deficiency in 457 Individuals.
Lao Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico.
Díaz-Velásquez CE et al.
Frontiers in Genetics, 2023
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Fanis P et al.
Frontiers in Endocrinology, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 2022
PB-Motif-A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping.
Stephens Z et al.
Frontiers in Genetics, 2021
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer S et al.
European Journal of Human Genetics : Ejhg, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Fernández CS et al.
Clinical Endocrinology, 2020
Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.
Jayakrishnan R et al.
Gene, 2019
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
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