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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.
van Dooijeweert B et al.
British Journal of Haematology, 2021
33997957 (PubMed )
Supplement: BJH-193-1185-s002.xlsx › Blad1
Genetic and functional insights into CDA-I prevalence and pathogenesis.
Olijnik AA et al.
Journal of Medical Genetics, 2021
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
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia.
Hamada M et al.
International Journal of Hematology, 2018
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.
Resnitzky P et al.
European Journal of Haematology, 2017
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
Congenital dyserythropoietic anemia in China: a case report from two families and a review.
Ru Y et al.
Annals of Hematology, 2014
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