Publications
Filters: Keyword is Genotype [Clear All Filters]
The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera. Leukemia. 2014 ;28(4):938-41.
. Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One. 2013 ;8(7):e68095.
. Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet. 2013 ;45(7):767-75.
. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet. 2013 ;50(10):674-88.
. CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression. Mol Psychiatry. 2013 ;18(6):700-7.
. Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013 ;18(2):138-40.
. Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida. Birth Defects Res A Clin Mol Teratol. 2013 ;97(9):597-601.
. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 ;83(5):457-461.
. An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data. Genome Res. 2013 ;23(5):833-42.
. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 ;70(12):1491-8.
. Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 ;45(11):1319-26.
. Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing. PLoS One. 2012 ;7(3):e33036.
. The Drosophila melanogaster Genetic Reference Panel. Nature. 2012 ;482(7384):173-8.
. Genome-wide single nucleotide polymorphism arrays as a diagnostic tool in patients with synchronous endometrial and ovarian cancer. Int J Gynecol Cancer. 2012 ;22(5):725-31.
. PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population. Clin Invest Med. 2012 ;35(4):E237-45.
. Using whole-genome sequence data to predict quantitative trait phenotypes in Drosophila melanogaster. PLoS Genet. 2012 ;8(5):e1002685.
. Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival. Cancer. 2011 ;117(13):2863-72.
. Association studies for next-generation sequencing. Genome Res. 2011 ;21(7):1099-108.
. Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance. Hepatology. 2011 ;53(2):467-74.
. Diversity of the fsr-gelE region of the Enterococcus faecalis genome but conservation in strains with partial deletions of the fsr operon. Appl Environ Microbiol. 2011 ;77(2):442-51.
. Evolution of pleiotropy: epistatic interaction pattern supports a mechanistic model underlying variation in genotype-phenotype map. J Exp Zool B Mol Dev Evol. 2011 ;316(5):371-85.
. Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011 ;17:3529-40.
. Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium. Ann Neurol. 2011 ;69(6):928-39.
. Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium. Cancer Res. 2011 ;71(24):7568-75.
. High-resolution identity by descent mapping uncovers the genetic basis for blood pressure differences between spontaneously hypertensive rat lines. Circ Cardiovasc Genet. 2011 ;4(3):223-31.
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