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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 03, 2024
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Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy.
Oindrila Bhattacharyya et al. Int J Neonatal Screen 2024 10(2)
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The FDA and Gene Therapy for Duchenne Muscular Dystrophy
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
O Battacharria et al, IJNS, April 15, 2024
Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.
Charli Ji et al. Lancet Reg Health West Pac 2024 45101049
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Spending on Targeted Therapies for Duchenne Muscular Dystrophy
L Bendicksen et al, JAMA, March 11, 2024
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Ben Weisburd et al. medRxiv 2024
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Diagnostic Accuracy of Creatine Kinase Isoenzyme-MM Test in Newborn Screening for Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
Liang Tang et al. Pediatr Neurol 2024 15384-91
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The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report.
Niki Armstrong et al. J Neuromuscul Dis 2024
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Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications.
Eugenio Mercuri et al. Front Pediatr 2023 111276144
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Public Health Genetics, Gene Therapy, and Duchenne Muscular Dystrophy
CDC Webinar, December 18, 2023
Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.
Abraham Fessehaye Sium et al. PLoS One 2023 18(11) e0294409
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Two Years of Newborn Screening for Duchenne Muscular Dystrophy as a Part of the Statewide Early Check Research Program in North Carolina
KS Kucera et al, Genetics in Medicine, October 17, 2023
Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
Lingrong Kong et al. Clin Genet 2023
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Lessons learned from the first national population-based genetic carrier-screening program for Duchenne Muscular Dystrophy.
A Singer et al, Genetics in Medicine, September 12, 2023
Neuromuscular disease genetics in underrepresented populations: increasing data diversity.
Lindsay A Wilson et al. Brain 2023
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For Duchenne moms who pushed for cures, new breakthrough therapy can’t rebuild what’s lost
J Mast, Stat News, June 30, 2023
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Norma P Tavakoli et al. Ann Clin Transl Neurol 2023
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Duchenne Muscular Dystrophy Gene Therapy in 2023: Status, Perspective, and Beyond.
Dongsheng Duan et al. Hum Gene Ther 2023 34(9-10) 345-349
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Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy.
Joshua R Mann et al. Neuroepidemiology 2023
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Muscular dystrophy gene therapy nears approval, but safety concerns linger Use of viruses poses significant risks and, for now, prevents retreatment if benefits fade
J Kaiser, Science, May 23, 2023
Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays.
Paul Dantonio et al. International journal of neonatal screening 2023 9(1)
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The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience.
Annemieke Aartsma-Rus et al. Journal of neuromuscular diseases 2023
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Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study.
Ahnjili Zhuparris et al. JMIR formative research 2023 7e41178
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Cancer and Myotonic Dystrophy.
Eleonora S D'Ambrosio et al. Journal of clinical medicine 2023 12(5)
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What is Muscular Dystrophy?
CDC, 2023
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
Sarinya Summa et al. Scientific reports 2023 13(1) 1376
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Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements.
Jaxybayeva Altynshash et al. Journal of neuromuscular diseases 2023
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Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.
Viggiano Emanuela et al. Genes 2023 14(1)
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Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review.
Zaninovic Luca et al. Diagnostics (Basel, Switzerland) 2023 13(2)
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Wearables and AI better predict the progression of muscular dystrophy
Nature Medicine, January 20, 2023
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 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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