Research graph
References from Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA. Local targets link to admitted publications; unresolved targets remain external evidence.
A genotype-phenotype correlation study of exon skip-equivalent In-Frame deletions and exon skip-amenable out-of-frame deletions across the DMD gene to simulate the effects of Exon-Skipping therapies: a meta-analysis
10.3390/jpm11010046 · 2021 · External reference
Parent project muscular dystrophy females with dystrophinopathy conference, Orlando, Florida June 26 - june 27, 2019
10.3233/jnd-200555 · 2021 · External reference
Matrilineal analysis of mutations in the DMD gene in a multigenerational south Indian cohort using DMD gene panel sequencing
10.1002/mgg3.1633 · 2021 · External reference
Genetics, X-Linked inheritance
2023 · External reference
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
10.1016/j.ajhg.2023.11.009 · 2024 · External reference
Cardiac care of children with dystrophinopathy and females carrying DMD-Gene variations
10.1136/openhrt-2022-001977 · 2022 · External reference
A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of becker muscular dystrophy in a Chinese family
10.1007/s00438-020-01757-8 · 2021 · External reference
Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan
10.1007/s10072-022-06128-2 · 2022 · External reference
Large scale population screening for duchenne muscular dystrophy-predictable and unpredictable challenges
10.1002/pd.6201 · 2022 · External reference
Orthotopic heart transplantation in manifesting carrier of Duchenne muscular dystrophy
10.1053/j.jvca.2021.09.047 · 2022 · External reference
The DMD gene and therapeutic approaches to restore dystrophin
10.1016/j.nmd.2021.08.004 · 2021 · External reference
EMQN best practice guidelines for genetic testing in dystrophinopathies
10.1038/s41431-020-0643-7 · 2020 · External reference
The complex landscape of DMD mutations: moving towards personalized medicine
10.3389/fgene.2024.1360224 · 2024 · External reference
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
10.1002/mgg3.1759 · 2021 · External reference
Population-Wide Duchenne Muscular Dystrophy carrier detection by CK and molecular testing
10.1155/2020/8396429 · 2020 · External reference
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: a clinical practice resource of the American college of medical genetics and genomics (ACMG)
10.1016/j.gim.2023.100870 · 2023 · External reference
Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and sanger sequencing combined with STR linkage analysis
10.1186/s12920-023-01746-x · 2023 · External reference
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates
10.1186/s13023-022-02231-x · 2022 · External reference
Newborn screening and genomic analysis of Duchenne muscular dystrophy in Henan, China
10.1016/j.cca.2022.11.024 · 2023 · External reference
Cognitive function in DMD carriers: personal case series and literature review
10.36185/2532-1900-354 · 2023 · External reference
Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy
10.1016/j.nmd.2023.08.008 · 2023 · External reference
Duchenne and becker muscular dystrophy carriers: evidence of cardiomyopathy by exercise and cardiac MRI testing
10.1016/j.ijcard.2020.05.052 · 2020 · External reference
Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy
10.1016/j.clinbiochem.2023.110614 · 2023 · External reference
Unlocking the genetic blueprint of Duchenne muscular dystrophy: a personalized approach with MLPA and WES. Glob med genet
10.1016/j.gmg.2025.100038 · 2025 · External reference
Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: a statement of the American college of medical genetics and genomics (ACMG)
10.1016/j.gim.2026.102583 · 2026 · External reference
CRISPR correction of Duchenne muscular dystrophy
10.1146/annurev-med-081117-010451 · 2019 · External reference
A single NGS-Based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing
10.1002/humu.24191 · 2021 · External reference
Genetic counseling for the dystrophinopathies-practice resource of the national society of genetic counselors
10.1002/jgc4.1892 · 2025 · External reference
Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations
10.1007/s00415-025-12987-4 · 2025 · External reference
Females with X-Linked muscle disorders: an underestimated patient population
10.36185/2532-1900-1096 · 2025 · External reference
The landscape of reported VUS in multi-gene panel and genomic testing: time for a change
10.1016/j.gim.2023.100947 · 2023 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology
10.1038/gim.2015.30 · 2015 · External reference
Correction: technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American college of medical genetics and genomics (ACMG) and the clinical genome resource (ClinGen)
10.1038/s41436-021-01150-9 · 2021 · External reference
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants
10.1007/s10048-024-00788-2 · 2024 · External reference
Advances in genetic characterization and genotype-phenotype correlation of duchenne and becker muscular dystrophy in the personalized medicine era
10.3390/jpm10030111 · 2020 · External reference
Developing DMD therapeutics: a review of the effectiveness of small molecules, stop-codon readthrough, dystrophin gene replacement, and exon-skipping therapies
10.1080/13543784.2021.1868434 · 2021 · External reference
Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy
10.1016/j.gim.2023.100981 · 2023 · External reference
Reproductive carrier screening results with maternal health implications during pregnancy
10.1097/aog.0000000000005318 · 2023 · External reference
Therapeutic strategies for Duchenne muscular dystrophy: an update
10.3390/genes11080837 · 2020 · External reference
Newborn screening for Duchenne muscular dystrophy: a two-year pilot study
10.1002/acn3.51829 · 2023 · External reference
Vascular therapy for duchenne muscular dystrophy (DMD)
10.12703/r/12-3 · 2023 · External reference
A retrospective cohort study and review of the literature about germline mosaicism in duchenne/becker muscular dystrophy prenatal counseling: how to estimate the recurrence risk in clinical settings?
10.1002/jgc4.1932 · 2025 · External reference
Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing
10.1016/j.cca.2019.01.014 · 2019 · External reference
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
10.1038/s10038-024-01263-4 · 2024 · External reference
Clinical and genetic characteristics of female dystrophinopathy carriers
10.3892/mmr.2019.9982 · 2019 · External reference
Cardiac phenotype-genotype associations in DMD/BMD: a meta-analysis and systematic review
10.1007/s00246-020-02470-4 · 2021 · External reference
Specificities of the DMD gene mutation spectrum in Russian patients
10.3390/ijms232112710 · 2022 · External reference
