Associated Papers
Iron overload in hereditary spherocytosis: Are genetic factors the cause?
Donaty L et al.
British Journal of Haematology, 2026
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
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
Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.
Isik E et al.
European Journal of Haematology, 2024
[Child with sitosterolemia initially presenting with hemolytic anemia and thrombocytopenia: a case repore and literrature review].
Zhao ZY et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Dongerdiye R et al.
Annals of Hematology, 2023
Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families.
Szepetowski S et al.
American Journal of Hematology, 2022
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
Kedar PS et al.
International Journal of Hematology, 2019
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Chami N et al.
American Journal of Human Genetics, 2016
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S et al.
British Journal of Haematology, 2006
Liver pyruvate kinase polymorphisms are associated with type 2 diabetes in northern European Caucasians.
Wang H et al.
Diabetes, 2002
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