Associated Papers
Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers.
Rychlicka-Buniowska E et al.
Life Science Alliance, 2026
41371958 (PubMed )
Supplement: LSA-2025-03533_TableS5.xlsx › Table_S5._Detected_CH_variants
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
Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.
Schernthaner-Reiter MH et al.
European Journal of Endocrinology, 2025
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
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Select a paper to view details