Associated Papers
Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.
Birch CL et al.
Journal of Translational Medicine, 2025
Advances on the genetic basis of red cell membrane disorders.
Risinger M et al.
Current Opinion in Hematology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.
Chueh HW et al.
Journal of Korean Medical Science, 2024
Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
Häuser F et al.
International Journal of Molecular Sciences, 2023
When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms.
Fermo E et al.
British Journal of Haematology, 2023
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.
Wang WJ et al.
Clinical Genetics, 2023
Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.
Yang L et al.
Clinical Genetics, 2022
The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.
Roy NBA et al.
British Journal of Haematology, 2022
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper.
Roy NBA et al.
Hemasphere, 2022
Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis.
Herrera-Tirado IM et al.
Genetic Testing and Molecular Biomarkers, 2022
Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants.
Vives-Corrons JL et al.
Annals of Hematology, 2022
Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.
Vercellati C et al.
Frontiers in Physiology, 2022
Diagnosis and clinical management of red cell membrane disorders.
Kalfa TA
Hematology. American Society of Hematology. Education Program, 2021
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Andolfo I et al.
Genes, 2021
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
Genotype-phenotype correlation in children with hereditary spherocytosis.
Tole S et al.
British Journal of Haematology, 2020
Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.
Svidnicki MCCM et al.
Annals of Hematology, 2020
Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis.
Huisjes R et al.
Haematologica, 2020
The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.
van Vuren A et al.
Hemasphere, 2019
Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia.
Rets A et al.
International Journal of Laboratory Hematology, 2019
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
Gallagher PG et al.
The Journal of Clinical Investigation, 2019
The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
Chonat S et al.
Frontiers in Physiology, 2019
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
Agarwal AM et al.
British Journal of Haematology, 2016
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
Chonat S et al.
Frontiers in Physiology, 0