Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2020.110202 ◽

2020 ◽

Vol 138 ◽

pp. 110202

Author(s):

Zhan-Kui Xing ◽

Su-Yang Wang ◽

Xin Xia ◽

Wen-Juan Ding ◽

Lei Duan ◽

...

Keyword(s):

Next Generation Sequencing ◽

Chinese Family ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa

Genetic Testing and Molecular Biomarkers ◽

10.1089/gtmb.2017.0248 ◽

2018 ◽

Vol 22 (3) ◽

pp. 165-169 ◽

Author(s):

Mu Yang ◽

Shujin Li ◽

Wenjing Liu ◽

Yeming Yang ◽

Lin Zhang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Retinitis Pigmentosa ◽

Frameshift Mutation ◽

Chinese Family ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing

Genetic Testing and Molecular Biomarkers ◽

10.1089/gtmb.2015.0248 ◽

2016 ◽

Vol 20 (4) ◽

pp. 203-207

Author(s):

Chen Chen ◽

Chao-Xia Lu ◽

Qiong Wang ◽

Li-Hua Cao ◽

Yang Luo ◽

...

Keyword(s):

Next Generation Sequencing ◽

Alport Syndrome ◽

Chinese Family ◽

Splicing Mutation ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing

Molecular Medicine Reports ◽

10.3892/mmr.2016.6082 ◽

2016 ◽

Vol 15 (2) ◽

pp. 936-940 ◽

Author(s):

Wenwen Zhang ◽

Qian Han ◽

Min Zhou ◽

Feng Ran ◽

Tong Qiao ◽

...

Keyword(s):

Next Generation Sequencing ◽

Missense Mutation ◽

Chinese Family ◽

Next Generation ◽

Ehlers Danlos Syndrome ◽

Targeted Next Generation Sequencing ◽

Danlos Syndrome ◽

Generation Sequencing

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Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family

10.1080/16078454.2019.1650873 ◽

2019 ◽

Vol 24 (1) ◽

pp. 583-587

Author(s):

Qing Sun ◽

Yao Xie ◽

Penghui Wu ◽

Shuo Li ◽

Ying Hua ◽

...

Keyword(s):

Next Generation Sequencing ◽

Hereditary Spherocytosis ◽

Chinese Family ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family

Frontiers in Genetics ◽

10.3389/fgene.2019.00001 ◽

2019 ◽

Vol 10 ◽

Author(s):

Jinxia An ◽

Jie Yang ◽

Yan Wang ◽

Yanxia Wang ◽

Baicheng Xu ◽

...

Keyword(s):

Hearing Loss ◽

Next Generation Sequencing ◽

Sensorineural Hearing Loss ◽

Autosomal Recessive ◽

Sensorineural Hearing ◽

Chinese Family ◽

Next Generation ◽

Loss Of Function ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family

Ophthalmic Genetics ◽

10.1080/13816810.2018.1461912 ◽

2018 ◽

Vol 39 (4) ◽

pp. 487-491 ◽

Author(s):

Shanshan Zhang ◽

Jie Li ◽

Shujin Li ◽

Yeming Yang ◽

Mu Yang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Retinitis Pigmentosa ◽

Compound Heterozygous Mutation ◽

Chinese Family ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

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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