Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth prevention. April 2, 2014
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. January 25, 2014
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia December 5, 2013
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections August 8, 2013
VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix. July 8, 2013
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy February 15, 2013
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome July 8, 2012
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
Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins November 1, 2008
