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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
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Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.
Ryan Jilek et al. Int J Neonatal Screen 2024 10(1)
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Birth Prevalence of Sickle Cell Disease and County-Level Social Vulnerability - Sickle Cell Data Collection Program, 11 States, 2016-2020.
Mariam Kayle et al. MMWR Morb Mortal Wkly Rep 2024 73(12) 248-254
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Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
Xuan-Hong To-Mai et al. Sci Rep 2024 14(1) 7461
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A scoping review exploring cure definitions and language for inherited hemoglobinopathies.
Marilyn S Baffoe-Bonnie et al. Genet Med Open 2024 2
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Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Wanna Chetruengchai et al. BMC Med Genomics 2024 17(1) 9
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Evaluation of Mono- and Bi-Functional GLOBE-Based Vectors for Therapy of β-Thalassemia by HBB Gene Addition and Mutation-Specific RNA Interference.
Lola Koniali et al. Cells 2023 12(24)
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Current Status of β-Thalassemic Burden in India.
Pratik Singh et al. Hemoglobin 2023 1-10
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Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.
Georgi Iskrov et al. Int J Neonatal Screen 2023 9(4)
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Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Justin K Kirkham et al. JAMA Netw Open 2023 6(10) e2337484
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A proposed methodology of health education for inherited genetic disorders: Bag and Ball technique.
Sam Marconi David et al. Trop Doct 2023 494755231204633
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Gene therapy for Hemoglobinopathies.
Maria Rosa Lidonnici et al. Hum Gene Ther 2023
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Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
et al. Ont Health Technol Assess Ser 2023 23(4) 1-398
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Screening of subclinical functional hemoglobin and red blood cell abnormalities among blood donors of Fayoum University Hospital in Egypt: Are RET-He, and IRF useful screening tools?
Salwa Bakr et al. Transfus Apher Sci 2023 103781
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Prevalence and spectrum of haemoglobinopathies in females of reproductive age group- A first tertiary care center experience in Punjab, North India.
Vikram Narang et al. Indian J Pathol Microbiol 2023 66(3) 564-567
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Ten years' experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities.
Haijun Li et al. Int J Hematol 2023
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Carrier rate of thalassemia among 25,910 high school students in Shaoguan area, China.
Yajun Chen et al. J Med Screen 2023 9691413231188069
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Potent and uniform fetal hemoglobin induction via base editing.
Thiyagaraj Mayuranathan et al. Nat Genet 2023
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The beta thalassaemia trait in Jamaica
JR Sergeant et al, J comm Genetics, June 30, 2023
CRISPR Therapy Exceeds Targets in Thalassemia, Sickle Cell Disease
M Basset, Medpage today, June 13, 2023
Prospective screening for δ-hemoglobinopathies associated with decreased hemoglobin A levels or hemoglobin A variants: A single center experience.
Chulikon Hanart et al. Clin Chim Acta 2023 117417
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Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.
Zhen Xu et al. Arch Pathol Lab Med 2023
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Analysis of genetic test results in 378 patients suspected of thalassaemia.
Jing Jin et al. Biotechnol Genet Eng Rev 2023 1-15
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Emerging Trends in Gene Therapy: Thalassemia as a Case Study
CDC Seminar— June 22, 2023, 2:00–3:00 PM ET
Health-related quality of life among thalassemia patients in Bangladesh using the SF-36 questionnaire.
Md Jubayer Hossain et al. Sci Rep 2023 13(1) 7734
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Prevalence of Thalassemia in the Vietnamese Population and Building a Clinical Decision Support System for Prenatal Screening for Thalassemia.
Danh Cuong Tran et al. Mediterr J Hematol Infect Dis 2023 15(1) e2023026
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The effect of mindfulness-based stress reduction on rejection sensitivity and resilience in patients with thalassemia: a randomized controlled trial.
Asma Ghonchehpour et al. BMC Psychiatry 23(1) 281
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An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran.
Mona Asghari Ahmadabad et al. Front Pediatr 2023 111039148
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Gene Therapy for β-Hemoglobinopathies: From Discovery to Clinical Trials.
Eva Eugenie Rose Segura et al. Viruses 2023 15(3)
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A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
Rafael Tesorero et al. PloS one 2023 18(3) e0283024
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A Particular Focus on the Prevalence of α- and β-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era.
Rossella Daidone et al. International journal of molecular sciences 2023 24(5)
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 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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