Publications
DNAism: exploring genomic datasets on the web with Horizon Charts. BMC Bioinformatics. 2016 ;17:49.
. Dynamic building of a BAC clone tiling path for the Rat Genome Sequencing Project. Genome Res. 2004 ;14(4):679-84.
. dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat. 2013 ;34(9):E2393-402.
. dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat. 2011 ;32(8):894-9.
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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 ;94(5):784-9.
. Detection and characterization of the flagellar master operon in the four Shigella subgroups. J Bacteriol. 1996 ;178(13):3722-6.
. Detection and characterization of the flagellar master operon in the four Shigella subgroups. J Bacteriol. 1996 ;178(13):3722-6.
. Detection and characterization of the flagellar master operon in the four Shigella subgroups. J Bacteriol. 1996 ;178(13):3722-6.
. Detection and characterization of the flagellar master operon in the four Shigella subgroups. J Bacteriol. 1996 ;178(13):3722-6.
. Detection and characterization of the flagellar master operon in the four Shigella subgroups. J Bacteriol. 1996 ;178(13):3722-6.
. Dissection of K+ currents in Caenorhabditis elegans muscle cells by genetics and RNA interference. Proc Natl Acad Sci U S A. 2003 ;100(24):14391-6.
. Dissection of K+ currents in Caenorhabditis elegans muscle cells by genetics and RNA interference. Proc Natl Acad Sci U S A. 2003 ;100(24):14391-6.
. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet. 1994 ;7(4):497-501.
. Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 ;262-263:53-56.
. The DNA sequence of the human X chromosome. Nature. 2005 ;434(7031):325-37.
. Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet. 1996 ;5(7):899-912.
. Differentially expressed nucleolar TGF-beta1 target (DENTT) in mouse development. Dev Dyn. 2003 ;226(3):491-511.
. DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum Mutat. 1998 ;11(2):121-6.
. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 ;98(3):553-561.
. 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.
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The Drosophila melanogaster transcriptome by paired-end RNA sequencing. Genome Res. 2011 ;21(2):315-24.
. Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A. 2011 ;108(29):11983-8.
. Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007 ;4(11):903-5.
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