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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)
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Last data update: May 16, 2024
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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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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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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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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane Andre et al. Journal of neuromuscular diseases 2021
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Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.
Xiao Tiantian et al. Annals of translational medicine 2021 9(9) 766
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Genotype-Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.
Lim Kenji Rowel Q et al. Journal of personalized medicine 2020 Nov 10(4)
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Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era
O Sheikh et al, JPM, September 3, 2020
Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing.
Mah May Ling et al. International journal of cardiology 2020 May
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Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.
Yang Yan-Mei et al. Journal of Zhejiang University. Science. B 20(9) 753-765
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Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy.
Eekhoff Lauren et al. Journal of genetic counseling 2019 Aug
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Local Coverage Determination (LCD): Biomarkers Overview (L35062)
The U.S. Centers for Medicare & Medicaid Services
Update in Duchenne and Becker muscular dystrophy.
Waldrop Megan A et al. Current opinion in neurology 2019 Jul
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De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.
König Kirsten et al. Orphanet journal of rare diseases 2019 Jun 14(1) 152
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[Genetic analysis and prenatal diagnosis of Duchenne or Becker muscular dystrophy].
Zhao W et al. Zhonghua fu chan ke za zhi 2019 Apr 54(4) 226-231
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Clinical and genetic characteristics of female dystrophinopathy carriers.
Zhong Jingzi et al. Molecular medicine reports 2019 Feb
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Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing.
Zhang Kuo et al. Clinica chimica acta; international journal of clinical chemistry 2019 Jan
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Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.
Zampatti Stefania et al. Prenatal diagnosis 2018 Oct
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Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1.
Andrews Jennifer G et al. Journal of neuromuscular diseases 2018 Oct
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Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence.
Fraser Harry G et al. Journal of genetic counseling 2018 Jul
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Implementation of Duchenne Muscular Dystrophy Care Considerations.
Andrews Jennifer G et al. Pediatrics 2018 Jun
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With tantalizing early results, Sareptas gene therapy for Duchenne raises hopes for real change
A Feuerstein, StatNews, June 19, 2018
Duchenne and Becker muscular dystrophy in adolescents: current perspectives.
Andrews Jennifer G et al. Adolescent health, medicine and therapeutics 2018 953-63
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The Process of Disclosure: Mothers' Experiences of Communicating X-Linked Carrier Risk Information to At-Risk Daughters.
Goldman Amy et al. Journal of genetic counseling 2018 Mar
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Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan.
Kobayashi Michio et al. Internal medicine (Tokyo, Japan) 2018 Mar
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Cost-Effectiveness Analysis of Diagnosis of Duchenne/Becker Muscular Dystrophy in Colombia.
Atehortúa Sara C et al. Value in health regional issues 2018 Mar 171-6
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Clinical Utility Gene Card for: Becker muscular dystrophy.
Coote David et al. European journal of human genetics : EJHG 2018 Feb
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Barriers and facilitators to clinical trial participation among parents of children with pediatric neuromuscular disorders.
Peay Holly L et al. Clinical trials (London, England) 2018 Jan 1740774517751118
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Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry.
Mori-Yoshimura Madoka et al. Brain & development 2017 Nov
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Screening for Duchenne muscular dystrophy in Germany, 1977-2011: A personal story.
Scheuerbrandt Günter et al. Muscle & nerve 2017 Oct
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 16, 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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