Publications
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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 ;41(6):739-45.
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l7Rn6 encodes a novel protein required for clara cell function in mouse lung development. Genetics. 2006 ;172(1):389-99.
. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 ;1(3):e41.
. is mutated in a distinct type of Usher syndrome. J Med Genet. 2017 ;54(3):190-195.
. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet J Rare Dis. 2015 ;10:110.
. Integrating the UMLS into VNS Retriever. Proc Annu Symp Comput Appl Med Care. 1992 ;:273-7.
. UALCAN: A Portal for Facilitating Tumor Subgroup Gene Expression and Survival Analyses. Neoplasia. 2017 ;19(8):649-658.
. FlyVar: a database for genetic variation in Drosophila melanogaster. Database (Oxford). 2015 ;2015.
. WormBase: a multi-species resource for nematode biology and genomics. Nucleic Acids Res. 2004 ;32(Database issue):D411-7.
. A proposed architecture for ambulatory systems development. Medinfo. 1995 ;8 Pt 1:363-6.
. Collaborative Social and Medical Service System. Proc Annu Symp Comput Appl Med Care. 1994 ;:614-8.
. Atlas2 Cloud: a framework for personal genome analysis in the cloud. BMC Genomics. 2012 ;13 Suppl 6(Suppl 6):S19.
. The MEDLINE Retriever. Proc Annu Symp Comput Appl Med Care. 1992 ;:473-7.
. Genetics: Decoding a national treasure. Nature. 2010 ;463(7279):303-4.
. Examining the Effects of Hibernation on Germline Mutation Rates in Grizzly Bears. Genome Biol Evol. 2022 ;14(10).
. Understanding the development of human bladder cancer by using a whole-organ genomic mapping strategy. Lab Invest. 2008 ;88(7):694-721.
. Whole-Organ Genomic Characterization of Mucosal Field Effects Initiating Bladder Carcinogenesis. Cell Rep. 2019 ;26(8):2241-2256.e4.
. Comprehensive Genomic Characterization of Upper Tract Urothelial Carcinoma. Eur Urol. 2017 ;72(4):641-649.
. Identification and removal of colanic acid from plasmid DNA preparations: implications for gene therapy. Gene Ther. 2010 ;17(12):1484-99.
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Pan-urologic cancer genomic subtypes that transcend tissue of origin. Nat Commun. 2017 ;8(1):199.
. A catalog of reference genomes from the human microbiome. Science. 2010 ;328(5981):994-9.
. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 ;96(4):612-22.
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