Publications
A human dimorphism resulting from loss of an Alu. Genomics. 1992 ;14(3):590-7.
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Hares and tortoises in the race to sequence the human genome: expectations and realities. Trends Genet. 1997 ;13(10):381-3.
. The Healthcare Administrator's Associate: an experiment in distributed healthcare information systems. Proc AMIA Annu Fall Symp. 1997 ;:548-52.
. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet. 1997 ;6(9):1595-603.
. Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet. 2000 ;67(6):1437-51.
. The human transcript database: a catalogue of full length cDNA inserts. Bioinformatics. 2000 ;16(2):176-7.
. A high-resolution map of human chromosome 12. Nature. 2001 ;409(6822):945-6.
. Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 2002 ;12(12):1846-53.
. Haplotype block linkage disequilibrium mapping. Front Biosci. 2003 ;8:a85-93.
. Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res. 2003 ;13(5):845-55.
. How is the Drosophila research community making use of the genome sequence?. Genome Biol. 2003 ;4(5):319.
. Human genetics. Primate shadow play. Science. 2003 ;299(5611):1331-3.
. The human genome: genes, pseudogenes, and variation on chromosome 7. Cold Spring Harb Symp Quant Biol. 2003 ;68:13-22.
. A haplotype map of the human genome. Nature. 2005 ;437(7063):1299-320.
Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res. 2005 ;15(2):269-75.
. High-throughput gene expression profiling--a work-in-progress with great potential for proteomics. Curr Opin Drug Discov Devel. 2006 ;9(3):332-8.
. Hypermutagenesis in mutA cells is mediated by mistranslational corruption of polymerase, and is accompanied by replication fork collapse. Mol Microbiol. 2006 ;62(6):1752-63.
. Heritability of brain volume, surface area and shape: an MRI study in an extended pedigree of baboons. Hum Brain Mapp. 2007 ;28(6):576-83.
. High mobility group (HMG-box) genes in the honeybee fungal pathogen Ascosphaera apis. Mycologia. 2007 ;99(4):553-61.
. Human-specific changes of genome structure detected by genomic triangulation. Science. 2007 ;316(5822):235-7.
. Hepatocyte nuclear factor 1 and hypertensive nephropathy. Hypertension. 2008 ;51(6):1583-9.
. High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies. PLoS Genet. 2008 ;4(8):e1000139.
. High-quality genomic DNA extraction from formalin-fixed and paraffin-embedded samples deparaffinized using mineral oil. Anal Biochem. 2009 ;395(2):265-7.
. High-throughput multiplex sequencing to discover copy number variants in Drosophila. Genetics. 2009 ;182(4):935-41.
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