Publications
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Filters: Author is Sui, Ruifang and Keyword is High-Throughput Nucleotide Sequencing [Clear All Filters]
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med. 2015 ;17(4):262-70.
. Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. Hum Mutat. 2017 ;38(11):1521-1533.
. is mutated in a distinct type of Usher syndrome. J Med Genet. 2017 ;54(3):190-195.
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