Publications
The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes. J Med Genet. 2017 ;54(2):134-144.
. SINE retrotransposons cause epigenetic reprogramming of adjacent gene promoters. Mol Cancer Res. 2012 ;10(10):1332-42.
. Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A. 2011 ;108(29):11983-8.
. The completion of the Mammalian Gene Collection (MGC). Genome Res. 2009 ;19(12):2324-33.
. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci. 2009 ;50(3):1336-43.
. The finished DNA sequence of human chromosome 12. Nature. 2006 ;440(7082):346-51.
. The genome of the sea urchin Strongylocentrotus purpuratus. Science. 2006 ;314(5801):941-52.
. Finishing the euchromatic sequence of the human genome. Nature. 2004 ;431(7011):931-45.
Identification of rat genes by TWINSCAN gene prediction, RT-PCR, and direct sequencing. Genome Res. 2004 ;14(4):665-71.
. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature. 2004 ;432(7018):695-716.
The DNA sequence and analysis of human chromosome 14. Nature. 2003 ;421(6923):601-7.
. Evaluating the context-dependent effect of family history of stroke in a genome scan for hypertension. Stroke. 2003 ;34(5):1170-5.
. FMR2 function: insight from a mouse knockout model. Cytogenet Genome Res. 2003 ;100(1-4):129-39.
. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003 ;423(6942):825-37.
. Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series. Am J Hum Genet. 2003 ;72(5):1131-40.
. Initial sequencing and comparative analysis of the mouse genome. Nature. 2002 ;420(6915):520-62.
. Initial sequencing and analysis of the human genome. Nature. 2001 ;409(6822):860-921.
. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res. 1995 ;5(1):71-8.
. Linkage mapping in Papio baboons: conservation of a syntenic group of six markers on human chromosome 1. Genomics. 1995 ;28(2):251-4.
. Fine structure of the human FMR1 gene. Hum Mol Genet. 1994 ;3(4):684-5.
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Enhancer and promoter elements directing activation and glucocorticoid repression of the alpha 1-fetoprotein gene in hepatocytes. Mol Cell Biol. 1988 ;8(4):1398-407.
. The genetic structure of mouse ornithine transcarbamylase. Nucleic Acids Res. 1988 ;16(4):1593-601.
. The molecular basis of the sparse fur mouse mutation. Science. 1987 ;237(4813):415-7.
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