Hanna T. Gazda
Division of Genetics and Program in Genomics
The Manton Center for Orphan Disease Research
Children's Hospital Boston
Boston
USA
Name/email consistency: high
- Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Gazda, H.T., Sheen, M.R., Vlachos, A., Choesmel, V., O'Donohue, M.F., Schneider, H., Darras, N., Hasman, C., Sieff, C.A., Newburger, P.E., Ball, S.E., Niewiadomska, E., Matysiak, M., Zaucha, J.M., Glader, B., Niemeyer, C., Meerpohl, J.J., Atsidaftos, E., Lipton, J.M., Gleizes, P.E., Beggs, A.H. Am. J. Hum. Genet. (2008)
- Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Gazda, H.T., Kho, A.T., Sanoudou, D., Zaucha, J.M., Kohane, I.S., Sieff, C.A., Beggs, A.H. Stem. Cells (2006)
- Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Gazda, H.T., Grabowska, A., Merida-Long, L.B., Latawiec, E., Schneider, H.E., Lipton, J.M., Vlachos, A., Atsidaftos, E., Ball, S.E., Orfali, K.A., Niewiadomska, E., Da Costa, L., Tchernia, G., Niemeyer, C., Meerpohl, J.J., Stahl, J., Schratt, G., Glader, B., Backer, K., Wong, C., Nathan, D.G., Beggs, A.H., Sieff, C.A. Am. J. Hum. Genet. (2006)