Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy February 15, 2013
Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms. February 14, 2013
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants January 10, 2013
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency July 15, 2011
Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics March 1, 2011
Rapid whole-genome mutational profiling using next-generation sequencing technologies September 4, 2010
