Associated Papers
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
Steinberg KM et al.
Scientific Reports, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 343.163
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.
Wang K et al.
Genome Medicine, 2013
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