Associated Papers
RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita.
Akimova D et al.
Clinical Genetics, 2026
Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.
Nurelegne HT et al.
Molecular Genetics & Genomic Medicine, 2025
A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.
Groen K et al.
Erj Open Research, 2024
Implementation of a prospective screening strategy to identify adults with a telomere biology disorder among those undergoing lung transplant evaluation for interstitial lung disease.
Banaszak LG et al.
Respiratory Medicine, 2023
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
The clinical impact of copy number variants in inherited bone marrow failure syndromes.
Waespe N et al.
Npj Genomic Medicine, 2017
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
Dhanraj S et al.
Journal of Medical Genetics, 2015
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