Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth prevention. Mary Anne Karren / April 2, 2014
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. Mary Anne Karren / January 25, 2014
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia Mary Anne Karren / December 5, 2013
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections Mary Anne Karren / August 8, 2013
VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix. Mary Anne Karren / July 8, 2013
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
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome Mary Anne Karren / July 8, 2012
Characterizing complex structural variation in germline and somatic genomes Mary Anne Karren / November 15, 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
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
Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins Mary Anne Karren / November 1, 2008
Nodira Codell, MPA
nodira.codell@genetics.utah.edu
801.581.7405
Utah Center for Genetic Discovery