Associated Papers
Anemia-associated mutations disrupt the CDIN1-Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA-I) disease.
Stojaspal M et al.
The Febs Journal, 2026
Using Patient Feedback to Improve Treatment Outcomes for Patients with Congenital Dyserythropoietic Anaemia Type I Receiving Interferon Therapy.
Frey K et al.
Journal of Clinical Medicine, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
CODANIN-1 sequesters ASF1 by using a histone H3 mimic helix to regulate the histone supply.
Jeong TK et al.
Nature Communications, 2025
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients.
Marra R et al.
American Journal of Hematology, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).
Niss O et al.
Blood Cells, Molecules & Diseases, 2021
The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.
Roy NBA et al.
British Journal of Haematology, 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Kager L et al.
British Journal of Haematology, 2018
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Roy NB et al.
British Journal of Haematology, 2016
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