Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy Mary Anne Karren / February 15, 2013
Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms. Mary Anne Karren / February 14, 2013
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants Mary Anne Karren / January 10, 2013
Demographic history and rare allele sharing among human populations. Mary Anne Karren / July 19, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency Mary Anne Karren / July 15, 2011
Variation in genome-wide mutation rates within and between human families Mary Anne Karren / June 12, 2011
Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics Mary Anne Karren / March 1, 2011
Mapping copy number variation by population-scale genome sequencing Mary Anne Karren / February 3, 2011
Rapid whole-genome mutational profiling using next-generation sequencing technologies Mary Anne Karren / September 4, 2010