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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Last data update: Jun 21, 2024
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Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Dervla M Connaughton et al. J Mol Med (Berl) 2023
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Iron Status in Sickle Cell Anemia: Deficiency or Overload?
Varsha P Patel et al. Cureus 2023 15(2) e35310
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Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.
Namsu Kim et al. Diagnostics (Basel, Switzerland) 2023 13(4)
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Clinical Utility of Targeted Next-Generation Sequencing Panel in Routine Diagnosis of Hereditary Hemolytic Anemia: A national reference laboratory experience.
Archana M Agarwal et al. European journal of haematology 2023
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Sickle Cell Disease: A Review.
Kavanagh Patricia L et al. JAMA 2022 328(1) 57-68
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Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis.
Herrera-Tirado Isis Mariela et al. Genetic testing and molecular biomarkers 2022 26(5) 270-276
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Acute complications in children with sickle cell disease: Prevention and management.
Beck Carolyn E et al. Paediatrics & child health 2022 27(1) 50-62
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Influence of diabetes and hypercholesterolemia on laboratory methods for hereditary spherocytosis diagnosis.
Lazarova Elena et al. Journal of clinical laboratory analysis 2022 e24248
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Genetic Variation of G6PD and CYP2D6: Clinical Implications on the Use of Primaquine for Elimination of Plasmodium vivax.
Stewart Alexandra G A et al. Frontiers in pharmacology 2021 12784909
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Manifestations of HbSE sickle cell disease: a systematic review.
Khamees Ibrahim et al. Journal of translational medicine 2021 19(1) 262
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Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease.
Esrick Erica B et al. The New England journal of medicine 2020 Dec
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Patient Experience with Congenital (Hereditary) Thrombotic Thrombocytopenic Purpura: A Conceptual Framework of Symptoms and Impacts.
Oladapo Abiola O et al. The patient 2019 12(5) 503-512
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[Hereditary hemolytic anemia in newborns: clinical significance of genetic diagnosis].
Ohga Shouichi et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2020 61(5) 484-490
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Sickle Cell Anemia in Cuba: Prevention and Management, 1982-2018.
Marcheco-Teruel Beatriz et al. MEDICC review 2019 Oct 21(4) 34-38
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Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Bianchi Paola et al. American journal of hematology 2019 94(1) 149-161
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Diagnosis and Management of Genetic Iron Overload Disorders.
Palmer William C et al. Journal of general internal medicine 2018 33(12) 2230-2236
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Iron overload in patients with rare hereditary hemolytic anemia: Evidence-based suggestion on whom and how to screen.
van Straaten Stephanie et al. American journal of hematology 2018 93(11) E374-E376
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Emerging non-genetic therapies for sickle cell disease.
Carden Marcus A et al. Haematologica 2019 Aug
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CLINGEN Actionability Report for WAS-related disorders-WAS
ClinGen Actionability Working Group
CLINGEN Actionability Report for Wilson Disease - ATP7B
ClinGen Actionability Working Group
Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia.
Rets Anton et al. International journal of laboratory hematology 2019 May 41 Suppl 195-101
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Advances in the Treatment of Sickle Cell Disease.
Kapoor Sargam et al. Mayo Clinic proceedings 2018 93(12) 1810-1824
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Population Pharmacokinetics of Cefotaxime and Dosage Recommendations in Children with Sickle Cell Disease.
Maksoud Elsa et al. Antimicrobial agents and chemotherapy 2018 62(4)
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Beta Thalassemia: Monitoring and New Treatment Approaches.
Khandros Eugene et al. Hematology/oncology clinics of North America 2019 Jun 33(3) 339-353
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Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program.
Chiu Yen-Hui et al. Clinica chimica acta; international journal of clinical chemistry 2019 Apr
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Sickle cell diseases: What can nuclear medicine offer?
Niccoli Asabella Artor et al. Hellenic journal of nuclear medicine 2019 Mar
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Inherited hemolytic anemia: a possessive beginner's guide.
Mohandas Narla et al. Hematology. American Society of Hematology. Education Program 2018 Nov 2018(1) 377-381
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Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.
Lin Pei-Chin et al. Clinica chimica acta; international journal of clinical chemistry 2018 Oct
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Analysis of the causes of the misdiagnosis of hereditary spherocytosis.
Ma Shiyue et al. Oncology reports 2018 Jul
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Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee.
Vassy Jason L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun
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Page last reviewed:
Feb 1, 2024
Page last updated:
Jun 21, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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