Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD Patient

Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study

(2021) Yiwen Zhai et al.   HUMAN MUTATION

Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing

(2021) Qianqian Li et al.   Frontiers in Genetics

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

(2020) Yingjie Sun et al.   BMC Medical Genetics

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

(2019) Nathalie Brison et al.   GENETICS IN MEDICINE

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies

(2019) Chao Ling et al.   HUMAN MUTATION

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

The evolving landscape of expanded carrier screening: challenges and opportunities

(2018) Stephanie A. Kraft et al.   GENETICS IN MEDICINE

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

(2018) Hefan Miao et al.   HEREDITAS

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

(2015) Shen Gu et al.   HUMAN MUTATION

A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing

(2015) Yuji Kubo et al.   JOURNAL OF HUMAN GENETICS

Human Structural Variation: Mechanisms of Chromosome Rearrangements

(2015) Brooke Weckselblatt et al.   TRENDS IN GENETICS

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

(2014) K. Nguyen et al.   CLINICAL GENETICS

Genomic rearrangements in inherited disease and cancer

(2010) Jian-Min Chen et al.   SEMINARS IN CANCER BIOLOGY

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