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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

Single-Nucleotide Human Disease Mutation Inactivates a Blood-Regenerative Enhancer

Alexandra Soukup, BS, PhD, Charu Mehta, MS, Peng Liu, PhD, Miao Cao, Inga Hofmann, MD, Yun Zhou, MS, Jing Zhang, PhD, Kyunghee Choi, PhD, Kirby D Johnson, PhD, Emery H Bresnick, PhD

Blood (2018) 132 (Supplement 1): 2564.

https://doi.org/10.1182/blood-2018-99-113008

Published: 2018

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

Single Cell Transcriptional Profiling Reveals Activation of TNF-Alpha Signaling in Hematopoietic Stem and Progenitor Cells from Shwachman-Diamond Syndrome Patients

Cailin Joyce, PhD, Assieh Saadatpour, PhD, Lan Jiang, PhD, Melisa Ruiz-Gutierrez, MDPhD, Ozge Vargel Bolukbasi, PhD, Inga Hofmann, MD, Colin A. Sieff, MB.BCh, Chad Nusbaum, PhD, Akiko Shimamura, MD PhD, Guo-Cheng Yuan, PhD, Carl D. Novina, MDPhD

Blood (2016) 128 (22): 335.

https://doi.org/10.1182/blood.V128.22.335.335

Published: 2016

Journal Articles

Outcomes of Allogeneic Stem Cell Transplantation in Pediatric Patients with Myelodysplastic Syndrome and Bone Marrow Failure Due to GATA2 Haploinsufficiency: A Case Control Study

Inga Hofmann, MD, Serine Avagyan, MD PhD, Alyssa Stetson, Dongjing Guo, MS, Hasan Al-Sayegh, MBChB, MPH, Wendy B. London, PhD, Leslie Lehmann, MD

Blood (2016) 128 (22): 4686.

https://doi.org/10.1182/blood.V128.22.4686.4686

Published: 2016

Journal Articles

Acute Lymphoblastic Leukemia in a Patient with Monomac Syndrome/GATA2 Haploinsufficiency

Ashley Koegel, MD, Venee N. Tubman, MD MMSc, Inga Hofmann, MD

Blood (2015) 126 (23): 3729.

https://doi.org/10.1182/blood.V126.23.3729.3729

Published: 2015

Journal Articles

Mutations in the Poly(A)-Specific Ribonuclease ( PARN ) Impair Telomerase RNA 3' End Maturation in Dyskeratosis Congenita Patients

Diane H. Moon, PhD, Matthew Segal, Baris Boyraz, Eva Guinan, MD, Inga Hofmann, MD, Patrick Cahan, PhD, Albert K Tai, PhD, Suneet Agarwal, MD PhD

Blood (2015) 126 (23): 669.

https://doi.org/10.1182/blood.V126.23.669.669

Published: 2015

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

GATA2 Mutations In Pediatric Myelodysplastic Syndromes and Bone Marrow Failure

Inga Hofmann, MD, Daniel Kierstead, Jennie Krasker, Dean Campagna, Klaus Schmitz-Abe, PhD, Kyriacos Markianos, PhD, Michelle A Lee, MD, PhD, Colin A. Sieff, MD, Suneet Agarwal, MD, PHD, Jennifer J Clark, MD, Michael Jeng, MD, Mignon L. Loh, MD, Evan Shereck, MD, David A. Williams, MD, Mark D Fleming, D.Phil., M.D.

Blood (2013) 122 (21): 1520.

https://doi.org/10.1182/blood.V122.21.1520.1520

Published: 2013

NARROW

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

Single-Nucleotide Human Disease Mutation Inactivates a Blood-Regenerative Enhancer

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

Single Cell Transcriptional Profiling Reveals Activation of TNF-Alpha Signaling in Hematopoietic Stem and Progenitor Cells from Shwachman-Diamond Syndrome Patients

Outcomes of Allogeneic Stem Cell Transplantation in Pediatric Patients with Myelodysplastic Syndrome and Bone Marrow Failure Due to GATA2 Haploinsufficiency: A Case Control Study

Acute Lymphoblastic Leukemia in a Patient with Monomac Syndrome/GATA2 Haploinsufficiency

Mutations in the Poly(A)-Specific Ribonuclease ( PARN ) Impair Telomerase RNA 3' End Maturation in Dyskeratosis Congenita Patients

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

GATA2 Mutations In Pediatric Myelodysplastic Syndromes and Bone Marrow Failure

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American Society of Hematology

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American Society of Hematology

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