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

Chang Liu; Huiting Deng; Cheng Yang; Xixi Li; Yanrong Zhu; Xiangfa Chen; Hui Li; Shuo Li; Hao Cui; Xiaoyan Zhang; Xiaoyue Tan; Dong Li; Zhujun Zhang

doi:10.1002/jcla.22575

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

Journal of Clinical Laboratory Analysis ◽

10.1002/jcla.22575 ◽

2018 ◽

Vol 32 (8) ◽

pp. e22575 ◽

Cited By ~ 1

Author(s):

Chang Liu ◽

Huiting Deng ◽

Cheng Yang ◽

Xixi Li ◽

Yanrong Zhu ◽

...

Keyword(s):

Next Generation Sequencing ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Multiplex Pcr ◽

Next Generation ◽

Duchenne Muscular Dystrophy Gene ◽

Targeted Next Generation Sequencing ◽

Exonic Deletion ◽

Generation Sequencing ◽

Dependent Probe

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A novel preimplantation genetic diagnosis strategy for Duchenne Muscular Dystrophy based on targeted Next-generation sequencing and linkage analysis

10.26226/morressier.573c1513d462b80296c98b86 ◽

2016 ◽

Author(s):

Juan Du

Keyword(s):

Next Generation Sequencing ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Linkage Analysis ◽

Preimplantation Genetic Diagnosis ◽

Genetic Diagnosis ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation

Gene ◽

10.1016/j.gene.2017.12.009 ◽

2018 ◽

Vol 644 ◽

pp. 1-3 ◽

Cited By ~ 7

Author(s):

Reza Ebrahimzadeh-Vesal ◽

Atieh Teymoori ◽

Mohsen Azimi-Nezhad ◽

Forough Sadat Hosseini

Keyword(s):

Next Generation Sequencing ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Molecular Diagnosis ◽

Novel Mutation ◽

Next Generation ◽

Generation Sequencing

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Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

The Indian Journal of Pediatrics ◽

10.1007/s12098-015-1822-3 ◽

2015 ◽

Vol 83 (4) ◽

pp. 354-355 ◽

Cited By ~ 1

Author(s):

Aneek Das Bhowmik ◽

Ashwin B. Dalal ◽

Divya Matta ◽

C. Sundaram ◽

Shagun Aggarwal

Keyword(s):

Next Generation Sequencing ◽

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Anchored multiplex PCR for targeted next-generation sequencing

Nature Medicine ◽

10.1038/nm.3729 ◽

2014 ◽

Vol 20 (12) ◽

pp. 1479-1484 ◽

Cited By ~ 406

Author(s):

Zongli Zheng ◽

Matthew Liebers ◽

Boryana Zhelyazkova ◽

Yi Cao ◽

Divya Panditi ◽

...

Keyword(s):

Next Generation Sequencing ◽

Multiplex Pcr ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Novel mutations identified in patients with a mild phenotype of Ullrich congenital muscular dystrophy through targeted next-generation sequencing

Neurology and Clinical Neuroscience ◽

10.1111/ncn3.43 ◽

2013 ◽

Vol 1 (4) ◽

pp. 148-153

Author(s):

Jun-Hui Yuan ◽

Itsuro Higuchi ◽

Yusuke Sakiyama ◽

Yukie Inamori ◽

Eiji Matsuura ◽

...

Keyword(s):

Next Generation Sequencing ◽

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Next Generation ◽

Novel Mutations ◽

Mild Phenotype ◽

Targeted Next Generation Sequencing ◽

Ullrich Congenital Muscular Dystrophy ◽

Generation Sequencing

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Genomic screening for Duchenne muscular dystrophy: a retrospective study from 10,481 NICU patients based on next generation sequencing data

10.22541/au.160101946.66780358 ◽

2020 ◽

Author(s):

Tiantian Xiao ◽

Bingbing Wu ◽

Yun Cao ◽

Renchao Liu ◽

Guoqiang Cheng ◽

...

Keyword(s):

Retrospective Study ◽

Next Generation Sequencing ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Next Generation Sequencing Data ◽

Next Generation ◽

Sequencing Data ◽

Genomic Screening ◽

Generation Sequencing

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Molecular Analysis of Gene Fusions in Bone and Soft Tissue Tumors by Anchored Multiplex PCR–Based Targeted Next-Generation Sequencing

Journal of Molecular Diagnostics ◽

10.1016/j.jmoldx.2018.05.007 ◽

2018 ◽

Vol 20 (5) ◽

pp. 653-663 ◽

Cited By ~ 36

Author(s):

Suk Wai Lam ◽

Anne-Marie Cleton-Jansen ◽

Arjen H.G. Cleven ◽

Dina Ruano ◽

Tom van Wezel ◽

...

Keyword(s):

Next Generation Sequencing ◽

Soft Tissue ◽

Multiplex Pcr ◽

Molecular Analysis ◽

Soft Tissue Tumors ◽

Gene Fusions ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Targeted Next-generation Sequencing Reveals a Homozygous Nonsense Mutation in CAPN3 that Causes Limb-girdle Muscular Dystrophy Type 2A First in Vietnam

Journal of Molecular Biomarkers & Diagnosis ◽

10.4172/2155-9929.1000194 ◽

2014 ◽

Vol 05 (05) ◽

Author(s):

Emma Tabe Eko Niba

Keyword(s):

Next Generation Sequencing ◽

Muscular Dystrophy ◽

Nonsense Mutation ◽

Limb Girdle Muscular Dystrophy ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing ◽

Homozygous Nonsense Mutation

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Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy

Neurology India ◽

10.4103/0028-3886.246266 ◽

2018 ◽

Vol 66 (6) ◽

pp. 1812

Author(s):

Ashwin Dala ◽

AneekDas Bhowmik ◽

Karthik Tallapaka ◽

Megha Uppin ◽

Challa Sundaram

Keyword(s):

Next Generation Sequencing ◽

Muscular Dystrophy ◽

Splice Site ◽

Congenital Muscular Dystrophy ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Abstract 1724: Genomic profiling of Vortex-enriched CTCs using whole genome amplification and multiplex PCR-based targeted next generation sequencing

10.1158/1538-7445.am2017-1724 ◽

2017 ◽

Author(s):

Haiyan E. Liu ◽

Melanie Triboulet ◽

Amin Zia ◽

Meghah Vuppalapaty ◽

Evelyn Kidess-Sigal ◽

...

Keyword(s):

Next Generation Sequencing ◽

Multiplex Pcr ◽

Whole Genome Amplification ◽

Whole Genome ◽

Genomic Profiling ◽

Next Generation ◽

Genome Amplification ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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