Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. August 18, 2015
Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. July 1, 2015
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR). June 29, 2015
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. March 9, 2015
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction February 5, 2015
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. April 3, 2014
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
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