Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion-Reference-Cited by-同舟云学术

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion

Published:2019-04-29 Issue: Volume: Page:
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Chakravorty Samya¹^ORCID,Berger Kiera²,Arafat Dalia²,Nallamilli Babi Ramesh Reddy¹,Subramanian Hari Prasanna²,Joseph Soumya³,Anderson Mary E.³,Campbell Kevin P.³,Glass Jonathan⁴,Gibson Greg²,Hegde Madhuri¹⁵

Affiliation:

1. Department of Human GeneticsEmory University School of Medicine Whitehead Building Suite 301, 615 Michael Street NE Georgia USA

2. Center for Integrative Genomics, School of BiologyGeorgia Institute of Technology Atlanta Georgia USA

3. Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of NeurologyUniversity of Iowa Roy J. and Lucille A. Carver College of Medicine Iowa City Iowa, 52242 USA

4. Department of Neurology and PathologyEmory University School of Medicine Atlanta Georgia USA

5. Global Laboratory Services/DiagnosticsPerkin Elmer Waltham Massachusetts USA

Funder

Muscular Dystrophy Association

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.26486

Reference29 articles.

1. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing;Cummings BB;Sci Transl Med,2017