The Microcytic Red Cell and the Anemia of Inflammation

Por Keel, Siobán B., Abkowitz, Janis L.
Publicado em 2009

Mice lacking the sodium-dependent phosphate import protein, PiT1 (SLC20A1), have a severe defect in terminal erythroid differentiation and early B cell development

Por Liu, Li, Sánchez-Bonilla, Marilyn, Crouthamel, Matthew, Giachelli, Cecilia, Keel, Siobán
Publicado em 2013

Coordinate expression of heme and globin is essential for effective erythropoiesis

Por Doty, Raymond T., Phelps, Susan R., Shadle, Christina, Sanchez-Bonilla, Marilyn, Keel, Siobán B., Abkowitz, Janis L.
Publicado no J Clin Invest (2015)

Evidence that the expression of transferrin receptor 1 on erythroid marrow cells mediates hepcidin suppression in the liver

Por Keel, Siobán B., Doty, Raymond, Liu, Li, Nemeth, Elizabeta, Cherian, Sindhu, Ganz, Tomas, Abkowitz, Janis L.
Publicado no Exp Hematol (2015)

Establishing Rps6 hemizygous mice as a model for studying how ribosomal protein haploinsufficiency impairs erythropoiesis

Por Keel, Siobán, Phelps, Susan, Sabo, Kathleen, O’Leary, Monique N., Kirn-Safran, Catherine B., Abkowitz, Janis L.
Publicado em 2011

Case Report of an Adolescent Male With Unexplained Pancytopenia: GATA2-Associated Bone Marrow Failure and Genetic Testing

Por Azevedo, Lauren, Jay, Allison, Lorenzana, Adonis, Keel, Sioban, Abraham, Roshini S., Horwitz, Marshall, van Hee, Michelle, Sawaf, Hadi
Publicado no Glob Pediatr Health (2017)

Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome

Por Yang, Zhantao, Keel, Siobán B., Shimamura, Akiko, Liu, Li, Gerds, Aaron T., Li, Henry Y., Wood, Brent L., Scott, Bart L., Abkowitz, Janis L.
Publicado no Sci Transl Med (2016)

Acquired RhD mosaicism identifies fibrotic transformation of thrombopoietin receptor-mutated essential thrombocythemia

Por Montemayor-Garcia, Celina, Coward, Rebecca, Albitar, Maher, Udani, Rupa, Jain, Prachi, Koklanaris, Eleftheria, Battiwalla, Minoo, Keel, Siobán, Klein, Harvey G., Barrett, A. John, Ito, Sawa
Publicado no Transfusion (2017)

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

Por Keel, Siobán B., Scott, Angela, Sanchez-Bonilla, Marilyn, Ho, Phoenix A., Gulsuner, Suleyman, Pritchard, Colin C., Abkowitz, Janis L., King, Mary-Claire, Walsh, Tom, Shimamura, Akiko
Publicado no Haematologica (2016)

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis

Por Steinberg-Shemer, Orna, Keel, Siobán, Dgany, Orly, Walsh, Tom, Noy-Lotan, Sharon, Krasnov, Tanya, Yacobovich, Joanne, Quarello, Paola, Ramenghi, Ugo, King, Mary-Claire, Shimamura, Akiko, Tamary, Hannah
Publicado no J Pediatr Hematol Oncol (2016)

Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias

Por Gou, Eric W., Balwani, Manisha, Bissell, D. Montgomery, Bloomer, Joseph R., Bonkovsky, Herbert L., Desnick, Robert J., Naik, Hetanshi, Phillips, John D., Singal, Ashwani K., Wang, Bruce, Keel, Sioban, Anderson, Karl E.
Publicado no Clin Chem (2015)

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Por Chen, Dong-Hui, Below, Jennifer E., Shimamura, Akiko, Keel, Sioban B., Matsushita, Mark, Wolff, John, Sul, Youngmee, Bonkowski, Emily, Castella, Maria, Taniguchi, Toshiyasu, Nickerson, Deborah, Papayannopoulou, Thalia, Bird, Thomas D., Raskind, Wendy H.
Publicado no Am J Hum Genet (2016)

A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing

Por Wehr, Claudia, Grotius, Katja, Casadei, Silvia, Bleckmann, Dorothee, Bode, Sebastian F. N., Frye, Björn C., Seidl, Maximilian, Gulsuner, Suleyman, King, Mary-Claire, Percival, Mary-Beth, Pritchard, Colin C., Walsh, Tom, Wu, David, Keel, Siobán, Salzer, Ulrich
Publicado no Blood (2018)

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

Por Zhang, Michael Y., Keel, Siobán B., Walsh, Tom, Lee, Ming K., Gulsuner, Suleyman, Watts, Amanda C., Pritchard, Colin C., Salipante, Stephen J., Jeng, Michael R., Hofmann, Inga, Williams, David A., Fleming, Mark D., Abkowitz, Janis L., King, Mary-Claire, Shimamura, Akiko
Publicado no Haematologica (2015)

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy

Por Rojek, Katarzyna, Nickels, Eric, Neistadt, Barbara, Marquez, Rafael, Wickrema, Amittha, Artz, Andrew, van Besien, Koen, Larson, Richard A., Lee, Ming K., Segal, Jeremy P., King, Mary-Claire, Walsh, Tom, Shimamura, Akiko, Keel, Sioban B., Churpek, Jane E., Godley, Lucy A.
Publicado no Biol Blood Marrow Transplant (2016)

Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis

Por Glogowska, Edyta, Schneider, Eve R., Maksimova, Yelena, Schulz, Vincent P., Lezon-Geyda, Kimberly, Wu, John, Radhakrishnan, Kottayam, Keel, Siobán B., Mahoney, Donald, Freidmann, Alison M., Altura, Rachel A., Gracheva, Elena O., Bagriantsev, Sviatoslav N., Kalfa, Theodosia A., Gallagher, Patrick G.
Publicado no Blood (2017)

Pulmonary Arteriovenous Malformations: an uncharacterized phenotype of Dyskeratosis Congenita and related Telomere Biology Disorders

Por Khincha, Payal P, Bertuch, Alison A., Agarwal, Suneet, Townsley, Danielle M, Young, Neal S, Keel, Siobán, Shimamura, Akiko, Boulad, Farid, Simoneau, Tregony, Justino, Henri, Kuo, Christin, Artandi, Steven, McCaslin, Charles, Cox, Des W, Chaffee, Sara, Collins, Bridget F, Giri, Neelam, Alter, Blanche P, Raghu, Ganesh, Savage, Sharon A
Publicado no Eur Respir J (2017)

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Por Zhang, Michael Y, Churpek, Jane E, Keel, Siobán B, Walsh, Tom, Lee, Ming K, Loeb, Keith R, Gulsuner, Suleyman, Pritchard, Colin C, Sanchez-Bonilla, Marilyn, Delrow, Jeffrey J, Basom, Ryan S, Forouhar, Melissa, Gyurkocza, Boglarka, Schwartz, Bradford S, Neistadt, Barbara, Marquez, Rafael, Mariani, Christopher J, Coats, Scott A, Hofmann, Inga, Lindsley, R Coleman, Williams, David A, Abkowitz, Janis L, Horwitz, Marshall S, King, Mary-Claire, Godley, Lucy A, Shimamura, Akiko
Publicado no Nat Genet (2015)

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Por Lewinsohn, Maya, Brown, Anna L., Weinel, Luke M., Phung, Connie, Rafidi, George, Lee, Ming K., Schreiber, Andreas W., Feng, Jinghua, Babic, Milena, Chong, Chan-Eng, Lee, Young, Yong, Agnes, Suthers, Graeme K., Poplawski, Nicola, Altree, Meryl, Phillips, Kerry, Jaensch, Louise, Fine, Miriam, D’Andrea, Richard J., Lewis, Ian D., Medeiros, Bruno C., Pollyea, Daniel A., King, Mary-Claire, Walsh, Tom, Keel, Siobán, Shimamura, Akiko, Godley, Lucy A., Hahn, Christopher N., Churpek, Jane E., Scott, Hamish S.
Publicado no Blood (2016)