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Journal Articles

Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

Luiz Fernando B. Catto, Gustavo Borges, André L. Pinto, Diego V. Clé, Fernando Chahud, Barbara A. Santana, Flavia S. Donaires, Rodrigo T. Calado

Blood (2020) 136 (8): 1002–1005.

https://doi.org/10.1182/blood.2020005538

Published: 2020

Includes: Supplemental data

Journal Articles

Increased activation of PI3 kinase-δ predisposes to B-cell lymphoma

Anne Durandy, Sven Kracker

Blood (2020) 135 (9): 638–643.

https://doi.org/10.1182/blood.2019002072

Published: 2020

Journal Articles

Recurrent Gene Mutations in Pediatric Patients with AML By Targeted Sequencing ―the Jccg Study, JPLSG AML-05―

Blood (2019) 134 (Supplement_1): 2697.

https://doi.org/10.1182/blood-2019-126545

Published: 2019

Journal Articles

Title: SNP Microarray Reveals Predicted Outcomes of a Novel High Risk AML Subgroup with ERG Amplification

Sandra Mazzoni, BS,DO,MT(ASCP), Brian T. Hess, MD, Cynthia Schandl, MD PhD, Iya Znoyko, PhD, Georges Nahhas, Dongjun Chung, Assistant Professor, PhD, Yanna Ding, MD PhD, Daynna Wolff, PhD FACMG

Blood (2019) 134 (Supplement_1): 2737.

https://doi.org/10.1182/blood-2019-121408

Published: 2019

Journal Articles

PRDM1 Binds an Extensive Network of Genes to Regulate Human Natural Killer Cell Homeostasis

Xuxiang Liu, PhD, Yunfei Shi, MD PhD, Yuping Li, PhD, Ru Chen, PhD, Sheng Pan, PhD, Gehong Dong, MD PhD, Qiang Gong, PhD, Javeed Iqbal, PhD, Haiqing Li, PhD, Jinhui Wang, PhD, Shuhua Yi, MD, Timothy McKeithan, MD PhD, Wing C. Chan, MD

Blood (2019) 134 (Supplement_1): 2536.

https://doi.org/10.1182/blood-2019-129270

Published: 2019

Journal Articles

gata2 is Required for the runx1 -Independent Hematopoiesis in Zebrafish

Erica Bresciani, PhD, Blake Carrington, Erika M Kwon Kim, PhD, Kai Yu, PhD, Kevin Bishop, Stefania Dell'Orso, PhD, Vittorio Sartorelli, PhD, Raman B. Sood, PhD, Paul P. Liu, MD PhD

Blood (2019) 134 (Supplement_1): 2463.

https://doi.org/10.1182/blood-2019-127334

Published: 2019

Journal Articles

Whole Genome Bisulfite Sequencing of 63 Primary AML Samples Identifies a Unique DNA Hypermethylation Signature for Mutant IDH1/2 Cases That Is Different from That of TET2 Mutant AML

Ellie Wilson, BS, Nichole Helton, Catrina Fronick, BS, Robert Fulton, MS, John S. Welch, MD PhD, Timothy J Ley, MD, David H Spencer, MD

Blood (2019) 134 (Supplement_1): 3755.

https://doi.org/10.1182/blood-2019-122340

Published: 2019

Journal Articles

CRISPR Dropout Screens Identify DHODH, PIK3C3 , and Crkl as Potential Therapeutic Targets in Acute Myeloid Leukemia

Gregory Takacs, BS, Yujia Zhou, BS,BA, David J. King, BS, Amy Meacham, MS, Loguinov Alex, PhD, Abderrahmane Tagmount, PhD, Amin Sobh, PhD, Max Russo, BS, Chris D Vulpe, MD PhD, Christopher R. Cogle, MD

Blood (2019) 134 (Supplement_1): 1452.

https://doi.org/10.1182/blood-2019-128180

Published: 2019

Journal Articles

IRF4 Is Reciprocally Dysregulated Via NF-Κb-Dependent Expression and Loss-of-Function Mutations in Multiple Myeloma

Yun Dai, MD, Yue Sun, MS, Shaji K. Kumar, MD, Wei Wu, MD, Fengyan Jin, MD PhD

Blood (2019) 134 (Supplement_1): 687.

https://doi.org/10.1182/blood-2019-132051

Published: 2019

Journal Articles

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

Caterina Marconi, Christian A. Di Buduo, Kellie LeVine, Serena Barozzi, Michela Faleschini, Valeria Bozzi, Flavia Palombo, Spencer McKinstry, Giuseppe Lassandro, Paola Giordano, Patrizia Noris, Carlo L. Balduini, Anna Savoia, Alessandra Balduini, Tommaso Pippucci, Marco Seri, Nicholas Katsanis, Alessandro Pecci

Blood (2019) 133 (12): 1346–1357.

https://doi.org/10.1182/blood-2018-07-859496

Published: 2019

Includes: Supplemental data

Journal Articles

Lessons from Nature: A Novel Class of TET Inhibitors for TET2 Mutant Associated Diseases

Yihong Guan, Anand D. Tiwari, PhD, Metis Hasipek, PhD, Dale Grabowski, BS, Yvonne Parker, Cassandra M. Hirsch, Amy C Graham, BS, MS, Yasunobu Nagata, Bartlomiej P. Przychodzen, Aziz Nazha, Daniel Lindner, MD PhD, Tomas Radivoyevitch, PhD, James G Phillips, PhD, Jaroslaw P. Maciejewski, Babal K. Jha

Blood (2018) 132 (Supplement 1): 4345.

https://doi.org/10.1182/blood-2018-99-117186

Published: 2018

Journal Articles

Genetic Heterogeneity of t(8;21)(q22;q22.1) Acute Myeloid Leukemia Revealed By High-Throughput Targeted Sequencing

Blood (2017) 130 (Supplement 1): 2688.

https://doi.org/10.1182/blood.V130.Suppl_1.2688.2688

Published: 2017

Journal Articles

Genetic and Epigenetic Defects in the Autophagy Machinery in Myelodysplastic Syndromes

Valeria Visconte, PhD, Bartlomiej P Przychodzen, MSc, Steffan T. Nawrocki, PhD, Swapna Thota, MD, Kevin R. Kelly, MD PhD, Bhumika Patel, MD, Cassandra M. Hirsch, BSc, Hetty E. Carraway, MD MBA, Yvonne Parker, Daniel Lindner, Mikkael A. Sekeres, MD MS, Heesun J Rogers, MD PhD, Jaroslaw P. Maciejewski, MD, PhD, FACP, Jennifer S. Carew, PhD

Blood (2016) 128 (22): 4301.

https://doi.org/10.1182/blood.V128.22.4301.4301

Published: 2016

Journal Articles

Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome

Haiyu Zhang, PhD, Yu Hou, MD, Rondeep S. Brar, MD, Bing Zhang, MD MS, Zhenping Chen, PhD MD, Parveen Abidi, PhD, Jing Jin, MD, Jason R. Gotlib, MD, James L. Zehnder, MD

Blood (2016) 128 (22): 1376.

https://doi.org/10.1182/blood.V128.22.1376.1376

Published: 2016

Journal Articles

Identifying Possible Candidate Factors Influencing the Penetrance of Heterozygous NFKB1 Loss of Function Mutations By Whole Exome Sequencing

Cyrill Schipp, MSc, Arndt Borkhardt, MD, Polina Stepensky, MD, Ute Fischer, PhD

Blood (2016) 128 (22): 3706.

https://doi.org/10.1182/blood.V128.22.3706.3706

Published: 2016

Journal Articles

A Dominant Mutation in Mitochondrial Unfoldase CLPX Results in Erythropoietic Protoporphyria

Yvette Y Yien, PhD, Gael Nicolas, PhD, Lisa van der Vorm, Laurent Gouya, MD PhD, Hector Begonia, Martin Kafina, Jean-Charles Deybach, MD PhD, Tania Baker, PhD, Julia Kardon, PhD, John D. Phillips, PhD, Hervé Puy, MD PhD, Barry H. Paw, MD, PhD

Blood (2016) 128 (22): 77.

https://doi.org/10.1182/blood.V128.22.77.77

Published: 2016

Journal Articles

Epigenetics Directing Therapy in Acute Lymphocytic Leukemia: Emerging Roles and New Therapies

Kathrin M Bernt, MD

Blood (2015) 126 (23): SCI-36.

https://doi.org/10.1182/blood.V126.23.SCI-36.SCI-36

Published: 2015

Journal Articles

Neutrophils Derived from Ezh2 -/- Progenitor Cells Demonstrate Aberrant Erythroid Lineage Gene Expression

Albert Perez-Ladaga, PhD, Huafeng Xie, PhD, Stuart H. Orkin, MD, David B. Sykes, MD PhD, Benjamin L. Ebert, MD PhD, Rafael Bejar, MDPhD

Blood (2015) 126 (23): 4112.

https://doi.org/10.1182/blood.V126.23.4112.4112

Published: 2015

Journal Articles

Insights into Clonal Relationships of Putative Adaptive Natural Killer Cells (NK) in Humans, Via Mapping of Somatic Piga Mutations in Patients with Paroxysmal Nocturna Hemoglobinuria (PNH)

Thomas Winkler, MD, Marcus A.F. Corat, PhD, Delong Liu, PhD, Moonjung Jung, MD, Danielle M. Townsley, MD, Chuanfeng Wu, PhD, Neal S Young, MD, Cynthia E. Dunbar, MD

Blood (2015) 126 (23): 2223.

https://doi.org/10.1182/blood.V126.23.2223.2223

Published: 2015

Journal Articles

Novel AML-Associated Loss of Function Mutations in the B55 Alpha Subunit of PP2A Are Associated with Increased Phosphorylation and Activation of AKT and Enhanced Sensitivity to AKT Inhibitor Induced Cell Growth Arrest

Geoffrey P. Shouse, MD PhD, Rosalia de Necochea-Campion, MS, Saied Mirshahidi, PhD, Xuan Liu, MD PhD, Chien-Shing Chen, MD PhD

Blood (2014) 124 (21): 2206.

https://doi.org/10.1182/blood.V124.21.2206.2206

Published: 2014

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Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

Increased activation of PI3 kinase-δ predisposes to B-cell lymphoma

Recurrent Gene Mutations in Pediatric Patients with AML By Targeted Sequencing ―the Jccg Study, JPLSG AML-05―

Title: SNP Microarray Reveals Predicted Outcomes of a Novel High Risk AML Subgroup with ERG Amplification

PRDM1 Binds an Extensive Network of Genes to Regulate Human Natural Killer Cell Homeostasis

gata2 is Required for the runx1 -Independent Hematopoiesis in Zebrafish

Whole Genome Bisulfite Sequencing of 63 Primary AML Samples Identifies a Unique DNA Hypermethylation Signature for Mutant IDH1/2 Cases That Is Different from That of TET2 Mutant AML

CRISPR Dropout Screens Identify DHODH, PIK3C3 , and Crkl as Potential Therapeutic Targets in Acute Myeloid Leukemia

IRF4 Is Reciprocally Dysregulated Via NF-Κb-Dependent Expression and Loss-of-Function Mutations in Multiple Myeloma

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

Lessons from Nature: A Novel Class of TET Inhibitors for TET2 Mutant Associated Diseases

Genetic Heterogeneity of t(8;21)(q22;q22.1) Acute Myeloid Leukemia Revealed By High-Throughput Targeted Sequencing

Genetic and Epigenetic Defects in the Autophagy Machinery in Myelodysplastic Syndromes

Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome

Identifying Possible Candidate Factors Influencing the Penetrance of Heterozygous NFKB1 Loss of Function Mutations By Whole Exome Sequencing

A Dominant Mutation in Mitochondrial Unfoldase CLPX Results in Erythropoietic Protoporphyria

Epigenetics Directing Therapy in Acute Lymphocytic Leukemia: Emerging Roles and New Therapies

Neutrophils Derived from Ezh2 -/- Progenitor Cells Demonstrate Aberrant Erythroid Lineage Gene Expression

Insights into Clonal Relationships of Putative Adaptive Natural Killer Cells (NK) in Humans, Via Mapping of Somatic Piga Mutations in Patients with Paroxysmal Nocturna Hemoglobinuria (PNH)

Novel AML-Associated Loss of Function Mutations in the B55 Alpha Subunit of PP2A Are Associated with Increased Phosphorylation and Activation of AKT and Enhanced Sensitivity to AKT Inhibitor Induced Cell Growth Arrest

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