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Journal Articles

Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

Alyssa L. Kennedy, MDPhD, Kasiani C. Myers, MD, James Bowman, PhD, Christopher J. Gibson, MD, Gwen M. Muscato, Robert Klein, Kaitlyn Ballotti, Nicholas Camarda, Elissa M. Furutani, MD, Chad E. Harris, MS, Shanshan Liu, PhD, Ashley Galvin, Maggie Malsch, MSN, RN, David C. Dale, MD, John M Gansner, MD PhD, Taizo A. Nakano, MD, Alison A. Bertuch, MD, Adrianna Vlachos, MD, Jeff H. Lipton, MD PhD, Paul Castillo, MD, James Connelly, John Edwards, MD, Nobuko Hijiya, MD, Richard Ho, MD, Inga Hofmann, MD, James N Huang, MD, Sioban B. Keel, MD, Adam J. Lamble, MD, Bonnie W Lau, MD PhD, Kelly J. Walkovich, MD, Maxim Norkin, MD, Wendy Stock, MD, Steffen Boettcher, Christian Brendel, PhD, Elliot Stieglitz, MD, Mark D. Fleming, MD DPhil, Stella M. Davies, PhD MBBS, MRCP, Edie A. Weller, Chris Bahl, PhD, Scott L. Carter, PhD, Akiko Shimamura, MD PhD, R. Coleman Lindsley, MD PhD

Blood (2020) 136 (Supplement 1): 35–36.

https://doi.org/10.1182/blood-2020-137125

Published: 2020

Journal Articles

Congenital X-Linked Myelodysplasia with Tetraploidy Is Associated with De Novo Germline C-Terminal Mutation of SEPT6, a Septin Filament Protein

Raffaele Renella, MD PhD, Katelyn Gagne, BS, Ellen Beauchamp, BA, Thorsten Schlaeger, PhD, Inga Hofmann, MD, Akiko Shimamura, MD PhD, Jonathan Fogel, BSc, Suneet Agarwal, MDPhD, Benjamin L. Ebert, MDPhD, Kyriacos Markianos, Timothy A. Springer, PhD, Mark D. Fleming, MD DPhil, David A. Williams, MD

Blood (2018) 132 (Supplement 1): 644.

https://doi.org/10.1182/blood-2018-99-114682

Published: 2018

Journal Articles

Integrated Genomic and Proteomic Analysis of Murine CLL-like Cells Reveals SF3B1 Mutation to Impact DNA Damage Response and BCR Signaling

Lili Wang, MDPhD, Shanye Yin, PhD, Aina zurita Martinez, Fara Faye Regis, BS, Angela Brooks, PhD, Sarah E. M. Herman, PhD, Elisa Ten Hacken, PhD, Esther Obeng, MD PhD, Dean Campagna, BS, Mark D. Fleming, MD DPhil, Benjamin L. Ebert, MDPhD, Adrian Wiestner, MD, Ignaty Leshchiner, PhD, Gad Getz, PhD, Ruben D. Carrasco, MD PhD, Catherine J. Wu, MD

Blood (2018) 132 (Supplement 1): 947.

https://doi.org/10.1182/blood-2018-99-117691

Published: 2018

Journal Articles

Lack of GDF11 Does Not Ameliorate Erythropoiesis in β-Thalassemia and Does Not Prevent the Activity of the Trap-Ligand RAP-536

Amaliris Guerra, PhD, Rea Oikonomidou, MD, Sinha Gonzalez, PhD, Jianbing Zhang, PhD, Vania Lo Presti, Callum R Hamilton, Laura Breda, PhD, Carla Casu, Mark D. Fleming, MD DPhil, Pedro Martinez, PhD, Rajasekhar Suragani, PhD, Ravi Kumar, PhD, Stefano Rivella

Blood (2018) 132 (Supplement 1): 165.

https://doi.org/10.1182/blood-2018-165

Published: 2018

Journal Articles

Optimized Beta-Globin Expression and Enucleation from Induced Red Blood Cells for In Vitro Modeling of Sickle Cell Disease

Tolulope O Rosanwo, BA, Melissa Kinney, PhD, Martha A Clark, PhD, Linda T Vo, PhD, R. Grant Rowe, MD PhD, Natasha M. Archer, MD, Matthew M Heeney, MD, Thorsten Schlaeger, PhD, Daniel E. Bauer, MD PhD, Mark D. Fleming, MD DPhil, Manoj T Duraisingh, PhD, Stuart H. Orkin, MD, Carlo Brugnara, MD, Trista North, PhD, George Q. Daley, MD PhD

Blood (2018) 132 (Supplement 1): 2359.

https://doi.org/10.1182/blood-2018-99-114136

Published: 2018

Journal Articles

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

Blood (2018) 132 (Supplement 1): 5849.

https://doi.org/10.1182/blood-2018-99-118979

Published: 2018

Journal Articles

NCOA4 Acts in Hepatocytes to Regulate Ferritin Subunit Levels and Hepatic Iron Storage

Abitha Sukumaran, PhD, Larisa Lozovatsky, MS, Xiuqi Li, BS, Luis A. Gonzalez, BS, Chang Cao, PhD, Mark D. Fleming, MD DPhil, Karin E. Finberg, MD PhD

Blood (2017) 130 (Supplement 1): 225.

https://doi.org/10.1182/blood.V130.Suppl_1.225.225

Published: 2017

Journal Articles

Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation

Mark D. Fleming, MD DPhil

Blood (2017) 130 (Supplement 1): SCI-41.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-41.SCI-41

Published: 2017

Journal Articles

Hscb , a Mitochondrial Iron-Sulfur Cluster Assembly Co-Chaperone, Is a Novel Candidate Gene for Congenital Sideroblastic Anemia

Andrew Crispin, BS, Paul Schmidt, PhD, Dean Campagna, BS, Chang Cao, PhD, Daniel Lichtenstein, BS, Anoop Sendamarai, PhD, Chaoshe Guo, PhD, Caiyong Chen, PhD, Gordon J Hildick-Smith, MD, Nicolas C Huston, BA, Jeanne Boudreaux, MD, Sylvia S. Bottomley, MD, Matthew M Heeney, MD, Barry H. Paw, MD PhD, Mark D. Fleming, MD DPhil, Sarah Ducamp, PhD

Blood (2017) 130 (Supplement 1): 79.

https://doi.org/10.1182/blood.V130.Suppl_1.79.79

Published: 2017

Journal Articles

MDS and AML in Shwachman-Diamond Syndrome: Clinical Features and Outcomes

Blood (2017) 130 (Supplement 1): 1177.

https://doi.org/10.1182/blood.V130.Suppl_1.1177.1177

Published: 2017

Journal Articles

Congenital Thrombocytopenia and Myelofibrosis Due to Germline Mutations in G6b-B— a Megakaryocyte-Specific Immunoreceptor Tyrosine-Based Inhibitory Motif (ITIM) Receptor

Inga Hofmann, MD, Andrew Crispin, BS, Dean Campagna, BS, Monica Calicchio, Klaus Schmitz-Abe, Esther A. Obeng, MD PhD, Kyriacos Markianos, Yotis A. Senis, Mark D. Fleming, MD DPhil

Blood (2017) 130 (Supplement 1): 1630.

https://doi.org/10.1182/blood.V130.Suppl_1.1630.1630

Published: 2017

Journal Articles

Genome-Wide Analysis of a Novel Murine Model of Chronic Lymphocytic Leukemia

Lili Wang, MD PhD, Rutendo Gambe, BS, Jing Sun, PhD, Sachet Shukla, PhD, Jaegil Kim, PhD, Angela N Brooks, PhD, Donna S. Neuberg, ScD, Mark D. Fleming, MD DPhil, Benjamin L. Ebert, MD PhD, Ruben D. Carrasco, MD PhD, Catherine J Wu, MD

Blood (2016) 128 (22): 967.

https://doi.org/10.1182/blood.V128.22.967.967

Published: 2016

Journal Articles

A Novel Dual Monoclonal Sandwich ELISA for Human Erythroferrone

Huiling Han, MD, Keith Westerman, BS, Vaughn Ostland, PhD, Patrick Gutschow, MS, Gordana Olbina, PhD, Jacqueline da Silva Guimarães, PhD, Juçara Gastaldi Cominal, M.Sc, Ana Maria de Souza, PhD, Ana Cristina Silva Pinto, MD, Stefano Rivella, PhD, Yelena Ginzburg, MD, Mark D. Fleming, MD DPhil, Mark Westerman, PhD

Blood (2016) 128 (22): 1272.

https://doi.org/10.1182/blood.V128.22.1272.1272

Published: 2016

Journal Articles

Germline and Somatic Genetic Characterization of Shwachman-Diamond Syndrome

Kasiani C. Myers, MD, Adam S. Nelson, MBBS, Brian Sheehan, Maggie Malsch, Gwendolyn Towers, Audrey Anna Bolyard, RN, BS, Joan Moore, Sara Loveless, Leann Mount, Stella M Davies, MBBS, PhD, Siobán B. Keel, MD, Rabi Hanna, MD, Mark D. Fleming, MD DPhil, David C. Dale, MD, Akiko Shimamura, MD PhD

Blood (2016) 128 (22): 2681.

https://doi.org/10.1182/blood.V128.22.2681.2681

Published: 2016

Journal Articles

Clinico-Pathological Features and Outcomes in Patients with Congenital Sideroblastic Anemias

Leah Ann Schmelkin, BS, Matthew T Howard, MD, David P. Steensma, MD, Mark D. Fleming, MD DPhil, Vilmarie Rodriguez, MD, Shakila Khan, MD, Naseema Gangat, MBBS, Alexandra Wolanskyj, MD, Mrinal M Patnaik, MBBS

Blood (2015) 126 (23): 3355.

https://doi.org/10.1182/blood.V126.23.3355.3355

Published: 2015

Journal Articles

Expressionof Sf3b1- K700Ein Murine B Cells Causes Pre-mRNA Splicing and Altered B Cell Differentiation and Function

Lili Wang, MD PhD, Rutendo Gambe, BS, Jean Fan, BS, Youzhong Wan, PhD, Angela N Brooks, PhD, Jing Sun, PhD, Esther A. Obeng, MD PhD, Donna S Neuberg, ScD, Matthew Meyerson, MD PhD, Mark D. Fleming, MD DPhil, Benjamin L. Ebert, MD, Ruben D. Carrasco, MD PhD, Catherine J Wu, MD

Blood (2015) 126 (23): 366.

https://doi.org/10.1182/blood.V126.23.366.366

Published: 2015

Journal Articles

A Novel Conditional Knockout of the Diamond Blackfan Anemia Gene Rpl11 Shows Failure of Erythropoiesis, a Marked Increase in BFU-E Progenitors By Phenotype That Proliferate Poorly in Culture, and Activation of p53 Target Genes

Cailin E Joyce, PhD, Meaghan McGuinness, BS, Rebekka K Schneider, MD, Mark D. Fleming, MD DPhil, Dean R Campagna, BS, Paul J Schmidt, PhD, Benjamin L Ebert, MD PhD, Carl D. Novina, MDPhD, Colin A. Sieff, MB.BCh

Blood (2015) 126 (23): 1205.

https://doi.org/10.1182/blood.V126.23.1205.1205

Published: 2015

Journal Articles

Mutant Splicing Factor 3b Subunit 1 (SF3B1) Causes Dysregulated Erythropoiesis and a Stem Cell Disadvantage

Esther A. Obeng, MDPhD, Marie E. McConkey, PhD, Dean Campagna, Rebekka K. Schneider, MD, Michelle C. Chen, Paul J Schmidt, PhD, Ann Mullally, MD, Mark D. Fleming, MD DPhil, Benjamin L. Ebert, MD DPhil

Blood (2014) 124 (21): 828.

https://doi.org/10.1182/blood.V124.21.828.828

Published: 2014

Journal Articles

Pediatric Aplastic Anemia and Refractory Cytopenia of Childhood: A Retrospective Single Institutional Analysis to Determine Outcomes and Histomorphological Predictors

Craig Forester, Sarah E Sartain, MD, Dongjing Guo, MPH, Marian Harris, Olga Weinberg, Mark D. Fleming, MD DPhil, Wendy B. London, PhD, David A. Williams, MD, Inga Hofmann, MD

Blood (2014) 124 (21): 4382.

https://doi.org/10.1182/blood.V124.21.4382.4382

Published: 2014

Journal Articles

RNAi-Mediated Inhibition of Tmprss6 Ameliorates Anemia and Secondary Iron Overload in a Mouse Model of β-Thalassemia Intermedia and Decreases Iron Overload in Hfe −/− Mice

Paul J Schmidt, PhD, Anoop K Sendamarai, PhD, Ivanka Toudjarska, PhD, Tim Racie, Jim S Butler, PhD, Mark D. Fleming, MD, DPhil, David Bumcrot, PhD

Blood (2012) 120 (21): 1018.

https://doi.org/10.1182/blood.V120.21.1018.1018

Published: 2012

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Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

Congenital X-Linked Myelodysplasia with Tetraploidy Is Associated with De Novo Germline C-Terminal Mutation of SEPT6, a Septin Filament Protein

Integrated Genomic and Proteomic Analysis of Murine CLL-like Cells Reveals SF3B1 Mutation to Impact DNA Damage Response and BCR Signaling

Lack of GDF11 Does Not Ameliorate Erythropoiesis in β-Thalassemia and Does Not Prevent the Activity of the Trap-Ligand RAP-536

Optimized Beta-Globin Expression and Enucleation from Induced Red Blood Cells for In Vitro Modeling of Sickle Cell Disease

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

NCOA4 Acts in Hepatocytes to Regulate Ferritin Subunit Levels and Hepatic Iron Storage

Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation

Hscb , a Mitochondrial Iron-Sulfur Cluster Assembly Co-Chaperone, Is a Novel Candidate Gene for Congenital Sideroblastic Anemia

MDS and AML in Shwachman-Diamond Syndrome: Clinical Features and Outcomes

Congenital Thrombocytopenia and Myelofibrosis Due to Germline Mutations in G6b-B— a Megakaryocyte-Specific Immunoreceptor Tyrosine-Based Inhibitory Motif (ITIM) Receptor

Genome-Wide Analysis of a Novel Murine Model of Chronic Lymphocytic Leukemia

A Novel Dual Monoclonal Sandwich ELISA for Human Erythroferrone

Germline and Somatic Genetic Characterization of Shwachman-Diamond Syndrome

Clinico-Pathological Features and Outcomes in Patients with Congenital Sideroblastic Anemias

Expressionof Sf3b1- K700Ein Murine B Cells Causes Pre-mRNA Splicing and Altered B Cell Differentiation and Function

A Novel Conditional Knockout of the Diamond Blackfan Anemia Gene Rpl11 Shows Failure of Erythropoiesis, a Marked Increase in BFU-E Progenitors By Phenotype That Proliferate Poorly in Culture, and Activation of p53 Target Genes

Mutant Splicing Factor 3b Subunit 1 (SF3B1) Causes Dysregulated Erythropoiesis and a Stem Cell Disadvantage

Pediatric Aplastic Anemia and Refractory Cytopenia of Childhood: A Retrospective Single Institutional Analysis to Determine Outcomes and Histomorphological Predictors

RNAi-Mediated Inhibition of Tmprss6 Ameliorates Anemia and Secondary Iron Overload in a Mouse Model of β-Thalassemia Intermedia and Decreases Iron Overload in Hfe −/− Mice

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