Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing

A single NGS based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing

(2021) Babi R.R. Nallamilli et al.   HUMAN MUTATION

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

(2019) Caroline Schluth-Bolard et al.   JOURNAL OF MEDICAL GENETICS

Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing

(2018) Yan Xu et al.   GENE

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

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

The importance of genetic diagnosis for Duchenne muscular dystrophy

(2016) Annemieke Aartsma-Rus et al.   JOURNAL OF MEDICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

(2014) Berivan Baskin et al.   Molecular Genetics & Genomic Medicine

Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in theDMDGene

(2013) Aliya Ishmukhametova et al.   HUMAN MUTATION

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

(2012) Apollonia T J M Helderman-van den Enden et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28

(2012) Thi Hoai Thu Tran et al.   JOURNAL OF HUMAN GENETICS

Regional genomic instability predisposes to complex dystrophin gene rearrangements

(2009) Junko Oshima et al.   HUMAN GENETICS

Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping

(2008) Heidi R. Madden et al.   HUMAN MUTATION