Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

PLoS ONE ◽

10.1371/journal.pone.0175343 ◽

2017 ◽

Vol 12 (4) ◽

pp. e0175343 ◽

Author(s):

Meng Yu ◽

Yiming Zheng ◽

Suqin Jin ◽

Qiang Gang ◽

Qingqing Wang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Mutational Spectrum ◽

Generation Sequencing

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Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

PLoS ONE ◽

10.1371/journal.pone.0181842 ◽

2017 ◽

Vol 12 (7) ◽

pp. e0181842 ◽

Author(s):

Cinzia Forleo ◽

Anna Maria D’Erchia ◽

Sandro Sorrentino ◽

Caterina Manzari ◽

Matteo Chiara ◽

...

Keyword(s):

Next Generation Sequencing ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Mutational Spectrum ◽

Generation Sequencing

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Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing

10.18632/oncotarget.19628 ◽

2017 ◽

Vol 8 (47) ◽

pp. 82475-82490 ◽

Author(s):

Yuanyuan Xu ◽

Yan Li ◽

Qingyu Xu ◽

Yuelong Chen ◽

Na Lv ◽

...

Keyword(s):

Next Generation Sequencing ◽

Myelodysplastic Syndromes ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Mutational Spectrum ◽

Generation Sequencing

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TARGETED NEXT GENERATION SEQUENCING PID PANEL IDENTIFIES A NOVEL NONSENSE CARD11 MUTATION TREATED SUCCESSFULLY WITH PHENOIDENTICAL HEMATOPOIETIC STEM CELL TRANSPLANT WITHOUT CONDITIONING

10.26226/morressier.57bc1757d462b80290b4cfb3 ◽

2016 ◽

Author(s):

Bashayer Alrasheed

Keyword(s):

Stem Cell ◽

Next Generation Sequencing ◽

Hematopoietic Stem Cell ◽

Hematopoietic Stem Cell Transplant ◽

Stem Cell Transplant ◽

Cell Transplant ◽

Next Generation ◽

Hematopoietic Stem ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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PATHOGENIC GENETIC VARIANTS IDENTIFIED BY TARGETED NEXT-GENERATION SEQUENCING IN SOME UNDEFINED PRIMARY IMMUNODEFICIENCY CASES (IZMIR EXPERIENCE)

10.26226/morressier.594a7d45d462b8028d89348d ◽

2017 ◽

Author(s):

Kutukculer Necil

Keyword(s):

Next Generation Sequencing ◽

Primary Immunodeficiency ◽

Genetic Variants ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Faculty Opinions recommendation of Targeted next-generation sequencing of head and neck squamous cell carcinoma identifies novel genetic alterations in HPV+ and HPV- tumors.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718014371.793495250 ◽

2014 ◽

Author(s):

Jean-Pascal Machiels

Keyword(s):

Squamous Cell Carcinoma ◽

Next Generation Sequencing ◽

Cell Carcinoma ◽

Head And Neck ◽

Squamous Cell ◽

Genetic Alterations ◽

Neck Squamous Cell Carcinoma ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Faculty Opinions recommendation of Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718087053.793516496 ◽

2016 ◽

Author(s):

Bernard Corvilain

Keyword(s):

Thyroid Cancer ◽

Next Generation Sequencing ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Detection Of Mutations ◽

Generation Sequencing

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The mutation screening in candidate genes related to thyroid dysgenesis by targeted next‐generation sequencing panel in the Chinese congenital hypothyroidism

Clinical Endocrinology ◽

10.1111/cen.14577 ◽

2021 ◽

Author(s):

Rui‐Jia Zhang ◽

Guang‐lin Yang ◽

Feng Cheng ◽

Feng Sun ◽

Ya Fang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Candidate Genes ◽

Congenital Hypothyroidism ◽

Mutation Screening ◽

Next Generation ◽

Thyroid Dysgenesis ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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156 Identification of novel variants associated with feline hypertrophic cardiomyopathy (HCM) using targeted next-generation sequencing

Animal - science proceedings ◽

10.1016/j.anscip.2021.03.157 ◽

2021 ◽

Vol 12 (1) ◽

pp. 126

Author(s):

Jade Raffle ◽

Jose Novo Matos ◽

Perry Elliott ◽

David Connolly ◽

Virginia Luis Fuentes ◽

...

Keyword(s):

Next Generation Sequencing ◽

Hypertrophic Cardiomyopathy ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Novel Variants ◽

Generation Sequencing

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Development and application of the Faba_bean_130K targeted next-generation sequencing SNP genotyping platform based on transcriptome sequencing

Theoretical and Applied Genetics ◽

10.1007/s00122-021-03885-0 ◽

2021 ◽

Author(s):

Chenyu Wang ◽

Rong Liu ◽

Yujiao Liu ◽

Wanwei Hou ◽

Xuejun Wang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Transcriptome Sequencing ◽

Snp Genotyping ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Genotyping Platform ◽

Generation Sequencing

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Real‐life targeted next‐generation sequencing for lymphoma diagnosis over 1 year from the French Lymphoma Network

British Journal of Haematology ◽

10.1111/bjh.17395 ◽

2021 ◽

Author(s):

Côme Bommier ◽

Claire Mauduit ◽

Juliette Fontaine ◽

Estelle Bourbon ◽

Pierre Sujobert ◽

...

Keyword(s):

Next Generation Sequencing ◽

Real Life ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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