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Mechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders

Proceedings of the National Academy of Sciences - PNAS, 2018-09, Vol.115 (38), p.9574-9579

2018

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Genotype–phenotype correlation in children with hereditary spherocytosis

British journal of haematology, 2020-11, Vol.191 (3), p.486-496

2020

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Red cell membrane disorders

International journal of laboratory hematology, 2017-05, Vol.39 (S1), p.47-52

2017

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Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis

British journal of haematology, 2023-05, Vol.201 (4), p.e46-e49

2023

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Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders

Blood reviews, 2013-07, Vol.27 (4), p.167-178

2013

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Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype

Molecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.57, Article 57

2024

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Correction to: Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis

Clinical genetics, 2019-02, Vol.95 (2), p.341-341

2019

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Allogenic haematopoeitic stem cell transplant as cure for severe transfusion‐dependent non‐dominant hereditary spherocytosis due to homozygous SPTA1 mutation

Pediatric blood & cancer, 2023-02, Vol.70 (2), p.e29928-n/a

2023

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The diagnostic protocol for hereditary spherocytosis‐2021 update

Journal of clinical laboratory analysis, 2021-12, Vol.35 (12), p.e24034-n/a

2021

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Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis

Clinical genetics, 2016-07, Vol.90 (1), p.69-78

2016

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Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB gene characterized by hydrops fetalis: A case report

Medicine (Baltimore), 2021-03, Vol.100 (12), p.e24804-e24804

2021

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Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context

Biochimica et biophysica acta, 2016-07, Vol.1858 (7), p.1507-1532

2016

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A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report

BMC pediatrics, 2023-05, Vol.23 (1), p.267-267, Article 267

2023

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Hemolysis transforms liver macrophages into antiinflammatory erythrophagocytes

The Journal of clinical investigation, 2020-10, Vol.130 (10), p.5576-5590

2020

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Eosin‐5’‐maleimide binding test—Do we use appropriate reference values to detect hereditary spherocytosis in neonates?

International journal of laboratory hematology, 2019-06, Vol.41 (3), p.e57-e60

2019

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Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update

British journal of haematology, 2012-01, Vol.156 (1), p.37-49

2012

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A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome

Internal Medicine, 2023/01/01, Vol.62(1), pp.107-111

2023

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Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics

Haematologica (Roma), 2012-04, Vol.97 (4), p.516-523

2012

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Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum

Molecular genetics and genomics : MGG, 2023-03, Vol.298 (2), p.427-439

2023

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Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

Genes, 2021-06, Vol.12 (7), p.958

2021

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Comparative histological analysis of spleens in pediatric patients with hemolytic anemias: Insights into the pathophysiological mechanisms of spleen destruction in sickle cell anemia

American journal of hematology, 2024-09, Vol.99 (9), p.1670-1679

2024

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Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry

Annals of hematology, 2024-02, Vol.103 (2), p.385-393

2024

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Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders

International journal of laboratory hematology, 2018-02, Vol.40 (1), p.94-102

2018

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Red blood cell senescence and vascular function in patients with hereditary spherocytosis with and without splenectomy

British journal of haematology, 2024-05, Vol.204 (5), p.e41-e44

2024

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Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience

European journal of haematology, 2023-06, Vol.110 (6), p.688-695

2023

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Mechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders

Genotype–phenotype correlation in children with hereditary spherocytosis

Red cell membrane disorders

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis

Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders

Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype

Correction to: Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis

Allogenic haematopoeitic stem cell transplant as cure for severe transfusion‐dependent non‐dominant hereditary spherocytosis due to homozygous SPTA1 mutation

The diagnostic protocol for hereditary spherocytosis‐2021 update

Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis

Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB gene characterized by hydrops fetalis: A case report

Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context

A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report

Hemolysis transforms liver macrophages into antiinflammatory erythrophagocytes

Eosin‐5’‐maleimide binding test—Do we use appropriate reference values to detect hereditary spherocytosis in neonates?

Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update

A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome

Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics

Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

Comparative histological analysis of spleens in pediatric patients with hemolytic anemias: Insights into the pathophysiological mechanisms of spleen destruction in sickle cell anemia

Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry

Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders

Red blood cell senescence and vascular function in patients with hereditary spherocytosis with and without splenectomy

Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience

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