New targets for monitoring and therapy in Barth syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb .
Thompson W Reid, DeCroes Brittany, McClellan Rebecca, Rubens Jessica, Vaz Frédéric M, Kristaponis Kara, Avramopoulos Dimitrios, Vernon Hilary
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