Novel pathogenic variants and genes for myopathies identified by whole exome sequencing-Reference-Cited by-同舟云学术

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

Published:2015-04-08 Issue:4 Volume:3 Page:283-301
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Hunter Jesse M.¹,Ahearn Mary Ellen¹,Balak Christopher D.¹,Liang Winnie S.²,Kurdoglu Ahmet³,Corneveaux Jason J.⁴,Russell Megan³,Huentelman Matthew J.⁴,Craig David W.⁴,Carpten John¹,Coons Stephen W.⁵,DeMello Daphne E.⁶,Hall Judith G.⁷,Bernes Saunder M.⁶,Baumbach‐Reardon Lisa¹

Affiliation:

1. Integrated Cancer Genomics Translational Genomics Research Institute (TGen) Phoenix Arizona

2. Collaborative Sequencing Center Translational Genomics Research Institute (TGen) Phoenix Arizona

3. Center for Bioinformatics Translational Genomics Research Institute (TGen) Phoenix Arizona

4. Neurogenomics Translational Genomics Research Institute (TGen) Phoenix Arizona

5. Section of Neuropathology Barrow Neurological Institute Phoenix Arizona

6. Division of Neurology Phoenix Children's Hospital Phoenix Arizona

7. Departments of Medical Genetics and Pediatrics University of British Columbia Vancouver British Columbia Canada

Funder

TGen

Muscular Dystrophy Association

Flinn Foundation

Helios Education Foundation

Freeport-McMoRan Copper & Gold Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.142

Reference55 articles.

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3. Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

4. Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy

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