A resolved discrepancy between multiplex PCR and multiplex ligation-dependent probe amplification by targeted next-generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

(2017) Craig M McDonald et al.   LANCET

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease

(2016) Lorenzo Ferri et al.   CLINICA CHIMICA ACTA

Eteplirsen: First Global Approval

(2016) Yahiya Y. Syed   DRUGS

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

(2016) Mariko Taniguchi-Ikeda et al.   JOURNAL OF HUMAN GENETICS

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

(2016) Mariko Okubo et al.   JOURNAL OF HUMAN GENETICS

A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis

(2015) Florence Roucher Boulez et al.   CLINICA CHIMICA ACTA

Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene

(2014) Emma Tabe Eko Niba et al.   CLINICA CHIMICA ACTA

Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy

(2014) Yan Wang et al.   MOLECULAR GENETICS AND GENOMICS

A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy

(2014) Jean K. Mah et al.   NEUROMUSCULAR DISORDERS

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

(2013) Xiaoming Wei et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

(2011) B. C. Lim et al.   JOURNAL OF MEDICAL GENETICS

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

Small Mutations Detected by Multiplex Ligation–Dependent Probe Amplification of the Dystrophin Gene

(2009) Yo Okizuka et al.   Genetic Testing and Molecular Biomarkers

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

(2009) Kevin M. Flanigan et al.   HUMAN MUTATION

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

(2009) Katharine Bushby et al.   LANCET NEUROLOGY

Log-PCR: A New Tool for Immediate and Cost-Effective Diagnosis of up to 85% of Dystrophin Gene Mutations

(2008) A. Trimarco et al.   CLINICAL CHEMISTRY