Publications
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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 ;177(1):32-37.
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 ;97(6):904-13.
. The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes. BMC Genomics. 2015 ;16(1):143.
. Durable sequence stability and bone marrow tropism in a macaque model of human pegivirus infection. Sci Transl Med. 2015 ;7(305):305ra144.
. DANPOS: dynamic analysis of nucleosome position and occupancy by sequencing. Genome Res. 2013 ;23(2):341-51.
. Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease. Sci China Life Sci. 2013 ;56(2):125-33.
. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 ;34(10):1439-48.
. Deep sequencing of systematic combinatorial libraries reveals β-lactamase sequence constraints at high resolution. J Mol Biol. 2012 ;424(3-4):150-67.
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