Publications
Characterization of transcriptomes from sexual and asexual lineages of a New Zealand snail (Potamopyrgus antipodarum). Mol Ecol Resour. 2013 ;13(2):289-94.
. Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost. 2013 ;11(2):261-9.
. Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet. 2013 ;45(7):767-75.
. A comparative genomic analysis of the oxidative enzymes potentially involved in lignin degradation by Agaricus bisporus. Fungal Genet Biol. 2013 ;55:22-31.
. Complete Genome Sequence of Elephant Endotheliotropic Herpesvirus 1A. Genome Announc. 2013 ;1(2):e0010613.
. Comprehensive molecular characterization of clear cell renal cell carcinoma. Nature. 2013 ;499(7456):43-9.
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.
. DANPOS: dynamic analysis of nucleosome position and occupancy by sequencing. Genome Res. 2013 ;23(2):341-51.
. Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease. Sci China Life Sci. 2013 ;56(2):125-33.
. dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat. 2013 ;34(9):E2393-402.
. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013 ;5(2):11.
. Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013 ;18(2):138-40.
. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 ;23(9):1383-94.
. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 ;34(10):1439-48.
. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 ;161A(12):3182-6.
. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 ;14:83.
. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med. 2013 ;5(6):57.
. 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.
. Fat mass and obesity gene and cognitive decline: the Atherosclerosis Risk in Communities Study. Neurology. 2013 ;80(1):92-9.
. From human genome to cancer genome: the first decade. Genome Res. 2013 ;23(7):1054-62.
. A functional variomics tool for discovering drug-resistance genes and drug targets. Cell Rep. 2013 ;3(2):577-85.
. Genome-wide analysis of stepwise hepatocarcinogenesis using next generation sequencer. In AACR 104th Annual Meeting 2013. Washington, DC: Cancer Res; 2013.
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