Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2018.09.008 ◽

2018 ◽

Vol 115 ◽

pp. 19-23 ◽

Author(s):

Kaitian Chen ◽

Min Liu ◽

Xuan Wu ◽

Ling Zong ◽

Hongyan Jiang

Keyword(s):

Next Generation Sequencing ◽

Auditory Neuropathy ◽

Spectrum Disorder ◽

Next Generation ◽

Auditory Neuropathy Spectrum Disorder ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2013.08.007 ◽

2013 ◽

Vol 77 (10) ◽

pp. 1749-1752 ◽

Author(s):

Lu-ping Zhang ◽

Yong-Chuan Chai ◽

Tao Yang ◽

Hao Wu

Keyword(s):

Next Generation Sequencing ◽

Chinese Patient ◽

Auditory Neuropathy ◽

Spectrum Disorder ◽

Compound Heterozygous ◽

Next Generation ◽

Auditory Neuropathy Spectrum Disorder ◽

Targeted Next Generation Sequencing ◽

Compound Heterozygous Mutations ◽

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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Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next‐generation sequencing

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1634 ◽

2021 ◽

Author(s):

Caixia Xiao ◽

Shuang Liu ◽

Hongyue Wang ◽

Yibing Ding ◽

Yaqiu Chen ◽

...

Keyword(s):

Next Generation Sequencing ◽

Deaf Children ◽

Next Generation ◽

Genetic Etiology ◽

Chinese Families ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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