Sieff, Colin A.

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

Sankaran, V. G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.-A., Beggs, A. H., Sieff, C. A., Orkin, S. H., Nathan, D. G., Lander, E. S., et al. (2012) · Journal of Clinical Investigation

Blood disorders and treatmentsGenomics and Rare Diseases

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Altered translation of GATA1 in Diamond-Blackfan anemia

Ludwig, L. S., Gazda, H. T., Eng, J. C., Eichhorn, S. W., Thiru, P., Ghazvinian, R., George, T. I., Gotlib, J. R., Beggs, A. H., Sieff, C. A., et al. (2014) · Nature Medicine

Blood disorders and treatmentsRNA and protein synthesis mechanisms

Cited by 302

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Jabara, H. H., Boyden, S. E., Chou, J., Ramesh, N., Massaad, M. J., Benson, H., Bainter, W., Fraulino, D., Rahimov, F., Sieff, C., et al. (2016) · Nature Genetics

Iron Metabolism and DisordersImmunodeficiency and Autoimmune Disorders

Cited by 279

The Genetic Landscape of Diamond-Blackfan Anemia

Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., et al. (2018) · The American Journal of Human Genetics

Blood disorders and treatmentsGenomics and Rare Diseases

Cited by 272