P-083 5q-syndrome or diamond blackfan anemia: The perplexing diagnostic puzzle of red cell aplasia von Vlachos, A, Farrar, J.E, Atsidaftos, E, Muir, E, Narla, A, Markello, T.C, Singh, S, Blanc, L, Landowski, M, Gazda, H.T, Liu, J.M, Ellis, S.R, Arceci, R.J, Ebert, B.L, Bodine, D.M, Lipton, J.M

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Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: An update from the Diamond Blackfan Anemia Registry von Lipton, Jeffrey M., Atsidaftos, Eva, Zyskind, Israel, Vlachos, Adrianna

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Inhibition of Wilms' tumor growth by intramuscular administration of tissue inhibitor of metalloproteinases-4 plasmid DNA von CELIKER, M. Y, WANG, M, ATSIDAFTOS, E, LIU, X, LIU, Y. E, JIANG, Y, VALDERRAMA, E, GOLDBERG, I. D, SHI, Y. E

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Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia von Gazda, Hanna T., Grabowska, Agnieszka, Merida-Long, Lilia B., Latawiec, Elzbieta, Schneider, Hal E., Lipton, Jeffrey M., Vlachos, Adrianna, Atsidaftos, Eva, Ball, Sarah E., Orfali, Karen A., Niewiadomska, Edyta, Da Costa, Lydie, Tchernia, Gil, Niemeyer, Charlotte, Meerpohl, Joerg J., Stahl, Joachim, Schratt, Gerhard, Glader, Bertil, Backer, Karen, Wong, Carolyn, Nathan, David G., Beggs, Alan H., Sieff, Colin A.

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RNA and protein evidence for haplo‐insufficiency in Diamond–Blackfan anaemia patients with RPS19 mutations von Gazda, Hanna T., Zhong, Rong, Long, Lilia, Niewiadomska, Edyta, Lipton, Jeffrey M., Ploszynska, Anna, Zaucha, Jan M., Vlachos, Adrianna, Atsidaftos, Evangelia, Viskochil, David H., Niemeyer, Charlotte M., Meerpohl, Joerg J., Rokicka‐Milewska, Roma, Pospisilova, Dagmar, Wiktor‐Jedrzejczak, W., Nathan, David G., Beggs, Alan H., Sieff, Colin A.

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Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia von Doherty, Leana, Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Clinton, Catherine, Schneider, Hal E., Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Arceci, Robert J., Farrar, Jason E., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Gazda, Hanna T.

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Ribosomal protein gene deletions in Diamond-Blackfan anemia von Farrar, Jason E., Vlachos, Adrianna, Atsidaftos, Eva, Carlson-Donohoe, Hannah, Markello, Thomas C., Arceci, Robert J., Ellis, Steven R., Lipton, Jeffrey M., Bodine, David M.

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Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A von Gianferante, Matthew D, Wlodarski, Marcin W, Atsidaftos, Evangelia, Da Costa, Lydie, Delaporta, Polyxeni, Farrar, Jason E, Goldman, Frederick D, Hussain, Maryam, Kattamis, Antonis, Leblanc, Thierry, Lipton, Jeffrey M, Niemeyer, Charlotte M, Pospisilova, Dagmar, Quarello, Paola, Ramenghi, Ugo, Sankaran, Vijay G, Vlachos, Adrianna, Volejnikova, Jana, Alter, Blanche P, Savage, Sharon A, Giri, Neelam

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Molecular convergence in ex vivo models of Diamond-Blackfan anemia von O'Brien, Kelly A., Farrar, Jason E., Vlachos, Adrianna, Anderson, Stacie M., Tsujiura, Crystiana A., Lichtenberg, Jens, Blanc, Lionel, Atsidaftos, Eva, Elkahloun, Abdel, An, Xiuli, Ellis, Steven R., Lipton, Jeffrey M., Bodine, David M.

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Exploiting pre‐rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis von Farrar, Jason E., Quarello, Paola, Fisher, Ross, O'Brien, Kelly A., Aspesi, Anna, Parrella, Sara, Henson, Adrianna L., Seidel, Nancy E., Atsidaftos, Eva, Prakash, Supraja, Bari, Shahla, Garelli, Emanuela, Arceci, Robert J., Dianzani, Irma, Ramenghi, Ugo, Vlachos, Adrianna, Lipton, Jeffrey M., Bodine, David M., Ellis, Steven R.

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Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients von Gazda, Hanna T., Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Schneider, Hal, Darras, Natasha, Hasman, Catherine, Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Zaucha, Jan M., Glader, Bertil, Niemeyer, Charlotte, Meerpohl, Joerg J., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Beggs, Alan H.

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Altered Epigenetic Maturation in Early Erythroid Cells from Diamond Blackfan Anemia Patients Treated with Transfusions, Corticosteroids, or in Remission von Farrar, Jason E., Kang, Jessica, Seidel, Nancy, Lichtenberg, Jens, Atsidaftos, Evangelia, Lipton, Jeffrey M, Vlachos, Adrianna, Bodine, David M.

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L‐leucine improves anemia and growth in patients with transfusion‐dependent Diamond‐Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond‐Blackfan Ane... von Vlachos, Adrianna, Atsidaftos, Evangelia, Lababidi, Mohammad Lutfi, Muir, Ellen, Rogers, Zora R., Alhushki, Waseem, Bernstein, Jonathan, Glader, Bertil, Gruner, Barbara, Hartung, Helge, Knoll, Christine, Loew, Thomas, Nalepa, Grzegorz, Narla, Anupama, Panigrahi, Arun R., Sieff, Colin A., Walkovich, Kelly, Farrar, Jason E., Lipton, Jeffrey M.

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Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia von Gazda, Hanna T., Preti, Milena, Sheen, Mee Rie, O'Donohue, Marie-Françoise, Vlachos, Adrianna, Davies, Stella M., Kattamis, Antonis, Doherty, Leana, Landowski, Michael, Buros, Christopher, Ghazvinian, Roxanne, Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Beggs, Alan H.

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Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia von Landowski, Michael, O’Donohue, Marie-Françoise, Buros, Christopher, Ghazvinian, Roxanne, Montel-Lehry, Nathalie, Vlachos, Adrianna, Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Atsidaftos, Eva, Lipton, Jeffrey M., Beggs, Alan H., Gleizes, Pierre-Emmanuel, Gazda, Hanna T.

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Whole Genome Sequencing Identifies Small Deletions in Ribosomal Genes Causing Diamond Blackfan Anemia von Bodine, David M., Lichtenberg, Jens, Seidel, Nancy, SequencingProgram, NISC Comparative, Jagadeesh, G. Jayashree, Conboy, John G, Farrar, Jason E., Kang, Jessica, Blanc, Lionel, Atsidaftos, Evangelia, Ellis, Steven, Lipton, Jeffrey Michael M, Vlachos, Adrianna

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The Genetic Landscape of Diamond-Blackfan Anemia von Ulirsch, Jacob C., Verboon, Jeffrey M., Kazerounian, Shideh, Guo, Michael H., Yuan, Daniel, Ludwig, Leif S., Handsaker, Robert E., Abdulhay, Nour J., Fiorini, Claudia, Genovese, Giulio, Lim, Elaine T., Cheng, Aaron, Cummings, Beryl B., Chao, Katherine R., Beggs, Alan H., Genetti, Casie A., Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Vlachos, Adrianna, Lipton, Jeffrey M., Atsidaftos, Eva, Glader, Bertil, Narla, Anupama, Gleizes, Pierre-Emmanuel, O’Donohue, Marie-Françoise, Montel-Lehry, Nathalie, Amor, David J., McCarroll, Steven A., O’Donnell-Luria, Anne H., Gupta, Namrata, Gabriel, Stacey B., MacArthur, Daniel G., Lander, Eric S., Lek, Monkol, Da Costa, Lydie, Nathan, David G., Korostelev, Andrei A., Do, Ron, Sankaran, Vijay G., Gazda, Hanna T.

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Leucine for the Treatment of Transfusion Dependence in Patients with Diamond Blackfan Anemia von Vlachos, Adrianna, Atsidaftos, Evangelia, Muir, Ellen, Rogers, Zora R., Lababidi, Mohammad Lufti, Alhushki, Waseem, Farrar, Jason E., Glader, Bertil, Gruner, Barbara, Hartung, Helge, Knoll, Christine M., Nalepa, Grzegorz, Narla, Anupama, Panigrahi, Arun Ranjan, Sieff, Colin A., Walkovich, Kelly J., Lipton, Jeffrey M

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Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions von Giri, Neelam, Gianferante, Matthew, Atsidaftos, Evangelia, Wlodarski, Marcin W., Quarello, Paola, Volejnikova, Jana, Delaporta, Polyxeni, Sankaran, Vijay G., Farrar, Jason E., Hussain, Maryam, McReynolds, Lisa J., Kattamis, Antonis, Lipton, Jeffrey M, Niemeyer, Charlotte, Pospisilova, Dagmar, Ramenghi, Ugo, Savage, Sharon A., Vlachos, Adrianna, Alter, Blanche P.

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Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in th... von Vlachos Adrianna, Osorio, Diana S, Atsidaftos Evangelia, Kang, Jessica, Lababidi, Mohammad Lutfi, Seiden, Howard S, Gruber Dorota, Glader, Bertil E, Onel Kenan, Farrar, Jason E, Bodine, David M, Aspesi, Anna, Dianzani Irma, Ramenghi Ugo, Ellis, Steven R, Lipton, Jeffrey M

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