Publications
Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes. Genomics. 2000 ;67(2):109-27.
. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 ;126(8):2881-92.
. Evaluating the context-dependent effect of family history of stroke in a genome scan for hypertension. Stroke. 2003 ;34(5):1170-5.
. Family-based association study of matrix metalloproteinase-3 and -9 haplotypes with susceptibility to ischemic white matter injury. Hum Genet. 2007 ;120(5):671-80.
. Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium. Cancer Res. 2011 ;71(24):7568-75.
. Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. Ann Neurol. 2004 ;55(3):435-8.
. Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: the Family Blood Pressure Program. Atherosclerosis. 2014 ;235(1):84-93.
. Long HIV-1 incubation periods and dynamics of transmission within a family. Lancet. 1990 ;336(8708):134-6.
. Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015 ;8(4):544-52.
. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 ;16(10):751-8.
. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 ;485(7397):242-5.
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