RT Journal
A1 Kuehn BM
T1 STrategy reveals rare disease genes
JF JAMA
JO JAMA
YR 2010
FD June 23
VO 303
IS 24
SP 2463
OP 2463
DO 10.1001/jama.2010.833
UL http://dx.doi.org/10.1001/jama.2010.833
AB 
The discovery was the latest in a string of successes for scientists using next-generation sequencing or massively parallel sequencing of the genome's protein-encoding regions and old-fashioned clinical investigation to zero in on the genetic causes of rare disorders that had evaded detection by more traditional methods.