Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?

por Ortega, Veronica, Louie, Raymond J., Jones, Melanie A., Chaubey, Alka, DuPont, Barbara R., Britt, Allison, Ray, Joseph, McLean, Scott D., Littlejohn, Rebecca O., Velagaleti, Gopalrao
Publicado 2021

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease

por Jones, Melanie A., Amr, Sami, Ferebee, Aerial, Huynh, Phung, Rosenfeld, Jill A., Miles, Michael F., Davies, Andrew G., Korey, Christopher A., Warrick, John M., Shiang, Rita, Elsea, Sarah H., Girirajan, Santhosh, Grotewiel, Mike
Publicado 2014