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
Multifactorial analysis of male infertility: sperm DNA damage, semen parameters, and genetic testing in Iranian infertile men.
Motamed M et al.
Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025
Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency.
Ravichandran L et al.
Indian Journal of Pediatrics, 2025
Genetic profiling of synchronous pituitary corticotroph adenomas.
Zhang D et al.
Pituitary, 2025
Genetic Profiling of Synchronous Pituitary Corticotroph Adenomas.
Zhang D et al.
Research Square, 2025
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Fernandez-Luna JL et al.
Molecular Genetics & Genomic Medicine, 2024
Genomic complexity and clinical significance of the RCCX locus.
Shiryagin VV et al.
Peerj, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 2022
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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.
Chan LF et al.
Frontiers in Endocrinology, 2015
Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions.
Mueller PW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
An Investigation of Steroid Biosynthesis Pathway Genes in Women with Polycystic Ovary Syndrome.
Sharma P et al.
Journal of Human Reproductive Sciences, 0