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
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
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia.
Willison C et al.
Prenatal Diagnosis, 2023
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Concolino P et al.
Molecular Diagnosis & Therapy, 2023
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Green RC et al.
American Journal of Human 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
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 2022
Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
Marino R et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Fernández CS et al.
Clinical Endocrinology, 2020
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C et al.
Molecular Genetics & Genomic Medicine, 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ceyhan-Birsoy O et al.
American Journal of Human Genetics, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Concolino P et al.
Molecular Diagnosis & Therapy, 2018
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.
Barbaro M et al.
Clinical Endocrinology, 2015
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Finkielstain GP et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.
Balsamo A et al.
Clinical Endocrinology, 2000