Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog

por Mansour, Tamer A., Woolard, Kevin D., Vernau, Karen L., Ancona, Devin M., Thomasy, Sara M., Sebbag, Lionel, Moore, Bret A., Knipe, Marguerite F., Seada, Haitham A., Cowan, Tina M., Aguilar, Miriam, Titus Brown, C., Bannasch, Danika L.
Publicado 2020

Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail do...

por Mansour, Tamer A., Lucot, Katherine, Konopelski, Sara E., Dickinson, Peter J., Sturges, Beverly K., Vernau, Karen L., Choi, Shannon, Stern, Joshua A., Thomasy, Sara M., Döring, Sophie, Verstraete, Frank J. M., Johnson, Eric G., York, Daniel, Rebhun, Robert B., Ho, Hsin-Yi Henry, Brown, C. Titus, Bannasch, Danika L.
Publicado 2018