Associated Papers
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis.
Hartzell C et al.
Prenatal Diagnosis, 2025
Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases.
Kamolvisit W et al.
European Journal of Human Genetics : Ejhg, 2025
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
Liang G et al.
Molecular Genetics and Genomics : Mgg, 2024
One-step amplification refractory mutation system-PCR/high-resolution melting curve assay for carrier detection of red blood cell membranopathy caused by common SPTB mutations.
Khongphithakskul P et al.
International Journal of Laboratory Hematology, 2024
Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
Songdej D et al.
Annals of Hematology, 2024
Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes.
Songdej D et al.
British Journal of Haematology, 2022
Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure.
Richmond CM et al.
Molecular Syndromology, 2020
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Park J et al.
Clinical Genetics, 2016
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