Publications
Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells. Mutat Res. 1993 ;288(2):237-48.
. A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. Ophthalmic Genet. 2022 ;43(2):210-217.
. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina. 2019 ;39(10):2040-2052.
. Author Correction: A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 ;38(11):1357.
. A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 ;38(11):1347-1355.
. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain. 2017 ;140(4):940-952.
. Complete genome sequence of Treponema pallidum strain DAL-1. Stand Genomic Sci. 2012 ;7(1):12-21.
. Mis-assembled "segmental duplications" in two versions of the Bos taurus genome. PLoS One. 2012 ;7(8):e42680.
. Comparison of vitamin D metabolites in wild and captive baboons. Am J Primatol. 2018 ;80(12):e22935.
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Biobanking in genomic medicine. Arch Pathol Lab Med. 2015 ;139(6):812-8.
. 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.
. The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function. World J Surg. 2011 ;35(8):1715-24.
. SSTR5 P335L monoclonal antibody differentiates pancreatic neuroendocrine neuroplasms with different SSTR5 genotypes. Surgery. 2011 ;150(6):1136-42.
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CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes. Sci Rep. 2015 ;5:8366.
. 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.
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Metabolomics and incident hypertension among blacks: the atherosclerosis risk in communities study. Hypertension. 2013 ;62(2):398-403.
. Associations between metabolomic compounds and incident heart failure among African Americans: the ARIC Study. Am J Epidemiol. 2013 ;178(4):534-42.
. Human metabolome associates with dietary intake habits among African Americans in the atherosclerosis risk in communities study. Am J Epidemiol. 2014 ;179(12):1424-33.
. Metabolomic patterns and alcohol consumption in African Americans in the Atherosclerosis Risk in Communities Study. Am J Clin Nutr. 2014 ;99(6):1470-8.
. Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proc Natl Acad Sci U S A. 1991 ;88(18):8067-71.
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