A novel statistical method for interpreting the pathogenicity of rare variants

od Wang, Jun, Liu, Hehe, Bertrand, Renae Elaine, Sarrion-Perdigones, Alejandro, Gonzalez, Yezabel, Venken, Koen J.T., Chen, Rui
Wydane w Genet Med (2020)

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

od Bertrand, Renae Elaine, Wang, Jun, Xiong, Kaitlyn H., Thangavel, Chinthana, Qian, Xinye, Ba-Abbad, Rola, Liang, Qingnan, Simões, Renata T., Sampaio, Shirley A. M., Carss, Keren J., Raymond, F. Lucy, Robson, Anthony G., Webster, Andrew R., Arno, Gavin, Porto, Fernanda Belga Ottoni, Chen, Rui
Wydane w Genet Med (2020)