Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends

por Rabinowitz, Tom, Shomron, Noam
Publicado 2020

Improved noninvasive fetal variant calling using standardized benchmarking approaches

por Rabinowitz, Tom, Deri-Rozov, Shira, Shomron, Noam
Publicado 2020

Bayesian-based noninvasive prenatal diagnosis of single-gene disorders

por Rabinowitz, Tom, Polsky, Avital, Golan, David, Danilevsky, Artem, Shapira, Guy, Raff, Chen, Basel-Salmon, Lina, Matar, Reut Tomashov, Shomron, Noam
Publicado 2019

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

por Tatour, Yasmin, Tamaiev, Jonathan, Shamaly, Shamaly, Colombo, Roberto, Bril, Ephrat, Rabinowitz, Tom, Yaakobi, Alona, Mezer, Eedy, Leibu, Rina, Tiosano, Beatrice, Shomron, Noam, Chowers, Itay, Banin, Eyal, Sharon, Dror, Ben-Yosef, Tamar
Publicado 2019