Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia

por Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D׳Aco, Kristin
Publicado 2015

Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

por Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D'Aco, Kristin
Publicado 2015

Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy

por Zepeda‐Mendoza, Cinthya J., Bontrager, Jordan E., Fisher, Camille F., McDonald, Amber, George‐Abraham, Jaya K., Hasadsri, Linda
Publicado 2022

Case Report: Long-term complete response to PSMA-targeted radioligand therapy and abiraterone in a metastatic prostate cancer patient

por Parker, David, Zambelli, Jessica, Lara, Montana Kay, Wolf, Trevor Hamilton, McDonald, Amber, Lee, Erica, Abou-Elkacem, Lotfi, Gordon, Eva J., Baum, Richard P.
Publicado 2023

Impact of RNA degradation on fusion detection by RNA-seq

por Davila, Jaime I., Fadra, Numrah M., Wang, Xiaoke, McDonald, Amber M., Nair, Asha A., Crusan, Barbara, R., Wu, Xianglin, Blommel, Joseph H., Jen, Jin, Rumilla, Kandelaria M., Jenkins, Robert B., Aypar, Umut, Klee, Eric W., Kipp, Benjamin R., Halling, Kevin C.
Publicado 2016

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders †

por Sanders, Karen A., Gavrilov, Dimitar K., Oglesbee, Devin, Raymond, Kimiyo M., Tortorelli, Silvia, Hopwood, John J., Lorey, Fred, Majumdar, Ramanath, Kroll, Charles A., McDonald, Amber M., Lacey, Jean M., Turgeon, Coleman T., Tucker, Justin N., Tang, Hao, Currier, Robert, Isaya, Grazia, Rinaldo, Piero, Matern, Dietrich
Publicado 2020