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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: Apr 17, 2024
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Muscular dystrophy[original query]>>Original Studies[Product Type]
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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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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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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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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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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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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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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Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy.
Ricotti Valeria et al. Nature medicine 2023
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High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Çavdarli Büsranur et al. Annals of human genetics 2022
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Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations.
Gan Siyi et al. Frontiers in neuroscience 2022 16992546
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Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.
Hartnett Michael J et al. International journal of neonatal screening 2022 8(4)
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A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2.
Flanigan Kevin M et al. Molecular therapy. Methods & clinical development 2022 2747-60
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Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study.
Crossnohere Norah L et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
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Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.
Armstrong Niki et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
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Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.
Kariyawasam Didu et al. European journal of human genetics : EJHG 2022
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Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
D Kariyawasam et al, EJHG, June 27, 2022
Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Paramsothy Pangaja et al. Neuromuscular disorders : NMD 2022
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Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.
Di Feo Maria Francesca et al. Health science reports 2022 5(3) e614
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Disease Progression Stages and Burden in Patients with Duchenne Muscular Dystrophy Using Administrative Claims Supplemented by Electronic Medical Records.
Iff Joel et al. Advances in therapy 2022
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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Guglieri Michela et al. JAMA 2022
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Time to Diagnosis of Duchenne Muscular Dystrophy Remains Unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), 2000-2015.
Thomas Shiny et al. Muscle & nerve 2022
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 17, 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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