High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy-Reference-Cited by-同舟云学术

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High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy

Published:2022-12-27 Issue:3 Volume:87 Page:104-114
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Çavdarlı Büşranur¹,Köken Özlem Yayici²,Satılmış Saide Betül Arslan¹,Bilen Şule³,Ardıçlı Didem⁴,Ceylan Ahmet Cevdet¹⁵,Gündüz Cavidan Nur Semerci¹⁵,Topaloğlu Haluk⁶

Affiliation:

1. Department of Medical Genetics Ankara City Hospital Ankara Turkey

2. Department of Pediatric Neurology Akdeniz University Antalya Turkey

3. Department of Neurology Ankara City Hospital Ankara Turkey

4. Department of Pediatric Neurology Ankara City Hospital Ankara Turkey

5. Department of Medical Genetics Ankara Yıldırım Beyazıt University Ankara Turkey

6. Department of Pediatric Neurology Yeditepe University Istanbul Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12492

Reference29 articles.

1. Diagnosis and discovery in limb-girdle muscular dystrophy

2. Clinical exome sequencing in neuromuscular diseases: an experience from Turkey

3. Congenital myopathies: clinical phenotypes and new diagnostic tools

4. Çavdarlı B. Yayıcı Ö. K. Ceylan A. C. Gündüz C. N. S. & Topaloğlu H. (2021). Genetic Landscape of Dystrofin Gene Deletions and Duplications From Turkey: A Single Center Experience. Türkiye Çocuk Hastalıkları Dergisi 15 319‐324.

5. Chen Q. Zheng W. Xu H. Yang Y. Song Z. Yuan L. & Deng H. (2021). Digenic variants in the TTN and TRAPPC11 genes co‐segregating with a limb‐girdle muscular dystrophy in a Han Chinese family. Frontiers in neuroscience 15 601757.

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort;BMC Neurology;2024-09-04

2. Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins;International Journal of Molecular Sciences;2024-05-27

3. Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene;Neuromuscular Disorders;2024-04

4. The utility of electrodiagnostic testing in unprovoked rhabdomyolysis in the era of next‐generation sequencing;Muscle & Nerve;2024-03-27

5. Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysis;2023-12-21

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