Publications
A clone-array pooled shotgun strategy for sequencing large genomes. Genome Res. 2001 ;11(10):1619-23.
. Comparing vertebrate whole-genome shotgun reads to the human genome. Genome Res. 2001 ;11(11):1807-16.
. Mechanism of hedgehog signaling during Drosophila eye development. Development. 2003 ;130(13):3053-62.
. Dual regulation and redundant function of two eye-specific enhancers of the Drosophila retinal determination gene dachshund. Development. 2005 ;132(12):2895-905.
. Keeping an eye on the fly genome. Dev Biol. 2005 ;282(2):285-93.
. The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 ;440(7088):1194-8.
. The finished DNA sequence of human chromosome 12. Nature. 2006 ;440(7082):346-51.
. Evolutionary and biomedical insights from the rhesus macaque genome. Science. 2007 ;316(5822):222-34.
. AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. Gene Ther. 2015 ;22(8):619-27.
. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nat Commun. 2015 ;6:5614.
. Molecular and Clinical Findings in Patients With Knobloch Syndrome. JAMA Ophthalmol. 2016 ;134(7):753-62.
. Corrigendum to "Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice" [Exp. Eye Res. 166 (2018) 120-130]. Exp Eye Res. 2018 ;171:119.
. GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. Genome Biol. 2018 ;19(1):203.
. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX). Am J Med Genet A. 2018 ;176(1):214-218.
. Integrative genomic analysis reveals novel regulatory mechanisms of eyeless during Drosophila eye development. Nucleic Acids Res. 2018 ;46(22):11743-11758.
. Pigmentary Maculopathy Associated with Chronic Exposure to Pentosan Polysulfate Sodium. Ophthalmology. 2018 ;125(11):1793-1802.
. Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. Hum Mol Genet. 2018 ;27(23):4157-4168.
. A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. BMC Ophthalmol. 2019 ;19(1):246.
. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 ;179(8):1665-1671.
. Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. Hum Gene Ther. 2019 ;30(3):302-315.
. Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids. Proc Natl Acad Sci U S A. 2019 ;116(22):10824-10833.
. A genomic atlas of systemic interindividual epigenetic variation in humans. Genome Biol. 2019 ;20(1):105.
. A nonhuman primate model of inherited retinal disease. J Clin Invest. 2019 ;129(2):863-874.
. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina. 2019 ;39(10):2040-2052.
. Reply. Ophthalmology. 2019 ;126(7):e51-e52.
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