Publications
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.
. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 ;13(1):109-13.
. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.
. BEAUTY-X: enhanced BLAST searches for DNA queries. Bioinformatics. 1998 ;14(10):890-1.
. Initial sequencing and analysis of the human genome. Nature. 2001 ;409(6822):860-921.
. The DNA sequence of human chromosome 7. Nature. 2003 ;424(6945):157-64.
. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 ;434(7034):724-31.
. The genome of the sea urchin Strongylocentrotus purpuratus. Science. 2006 ;314(5801):941-52.
. l7Rn6 encodes a novel protein required for clara cell function in mouse lung development. Genetics. 2006 ;172(1):389-99.
. Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain. J Neurosci. 2006 ;26(30):7875-84.
. The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science. 2009 ;324(5926):522-8.
. Microarray analysis of somatostatin receptor 5-regulated gene expression profiles in murine pancreas. World J Surg. 2009 ;33(4):630-7.
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Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Hum Mol Genet. 2011 ;20(19):3852-66.
. Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011 ;17:3529-40.
. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 ;32(12):1450-9.
. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 2012 ;150(3):533-48.
. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012 ;491(7424):399-405.
. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012 ;335(6070):823-8.
. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 ;158A(11):2917-24.
. Fat mass and obesity gene and cognitive decline: the Atherosclerosis Risk in Communities Study. Neurology. 2013 ;80(1):92-9.
. A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study. Hum Mol Genet. 2015 ;24(8):2401-8.
. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 ;97(2):199-215.
. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 ;125(2):636-51.
. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015 ;24(6):1584-601.
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