Prenatal diagnosis of de novo DMD duplication by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS) at 11 gestational weeks

Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing

(2017) Beibei Wu et al.   Molecular Cytogenetics

Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants

(2016) Roy B. Lefkowitz et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Incidental prenatal detection of DMD gene deletion using array comparative genomic hybridization

(2016) Yi He et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

(2016) Nathalie Brison et al.   GENETICS IN MEDICINE

Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage

(2016) Michael Parks et al.   PRENATAL DIAGNOSIS

Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis

(2016) Sian Taylor-Phillips et al.   BMJ Open

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

(2015) Ruolan Guo et al.   JOURNAL OF HUMAN GENETICS

Duchenne muscular dystrophy

(2015) Eppie M Yiu et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION