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

Overview of attention for article published in Genome Medicine, January 2013

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In the top 25% of all research outputs scored by Altmetric
High Attention Score compared to outputs of the same age (91st percentile)
Above-average Attention Score compared to outputs of the same age and source (59th percentile)

So far, Altmetric has seen 26 tweets from 21 users, with an upper bound of 117,265 followers.

RT @GholsonLyon: @jxchong By the way, here is instance where WGS worked when exome did not. http://t.co/eCPQurCxFv Surprised the CMG did no…

@jxchong By the way, here is instance where WGS worked when exome did not. http://t.co/eCPQurCxFv Surprised the CMG did not have this....

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 http://t.co/OVf44fMCGB

Hakonarson: Diagnostic odyssey paper here in Genome Med. http://t.co/Kwvbj2gSBr #AGBT14

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