Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.
Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jan .
Soens Zachry T, Li Yuanyuan, Zhao Li, Eblimit Aiden, Dharmat Rachayata, Li Yumei, Chen Yiyun, Naqeeb Mohammed, Fajardo Norma, Lopez Irma, Sun Zhaoxia, Koenekoop Robert K, Chen R
Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Apr 17 (4): 307-11.
Huang Xiu-Feng, Wu Juan, Lv Ji-Neng, Zhang Xiao, Jin Zi-Bi