Associated Papers
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A et al.
Genome Medicine, 2024
38184646 (PubMed )
Supplement: 13073_2023_1277_MOESM1_ESM.xlsx › Table_S11
Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies.
Ling C et al.
Iscience, 2023
38047063 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.
De Palma FDE et al.
Diagnostics (basel, Switzerland), 2021
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
Ling C et al.
Human Mutation, 2020
31705731 (PubMed )
Supplement: HUMU-41-668-s002.xlsx › Sheet1
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Okubo M et al.
Journal of Human Genetics, 2016
Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects.
Hwa HL et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2007
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