Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach-Reference-Cited by-同舟云学术

Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach

Published:2019-08-13 Issue:1 Volume:27 Page:51-61
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Krenn M.¹²^ORCID,Tomschik M.¹^ORCID,Rath J.¹,Cetin H.¹,Grisold A.¹,Zulehner G.¹,Milenkovic I.¹^ORCID,Stogmann E.¹,Zimprich A.¹,Strom T. M.²³,Meitinger T.²³,Wagner M.²³⁴^ORCID,Zimprich F.¹

Affiliation:

1. Department of Neurology Medical University of Vienna Vienna Austria

2. Institute of Human Genetics Technical University Munich MunichGermany

3. Institute of Human Genetics Helmholtz Zentrum München NeuherbergGermany

4. Institute of Neurogenomics Helmholtz Zentrum München Neuherberg Germany

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14033

Reference25 articles.

1. Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

2. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

3. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

4. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

5. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

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