Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement-Reference-Cited by-同舟云学术

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Published:2013 Issue:7 Volume:5 Page:67
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Medicine

Author:

Wang Kai,Kim Cecilia,Bradfield Jonathan,Guo Yunfei,Toskala Elina,Otieno Frederick G,Hou Cuiping,Thomas Kelly,Cardinale Christopher,Lyon Gholson J,Golhar Ryan,Hakonarson Hakon

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine

Reference31 articles.

1. Exome sequencing as a tool for Mendelian disease gene discovery

2. Revisiting Mendelian disorders through exome sequencing

3. Exome sequencing: Dual role as a discovery and diagnostic tool

4. Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

5. Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

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