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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

Genetic disruption of N-Ras G12D palmitoylation perturbs hematopoiesis and prevents myeloid transformation in mice

Noemi A. Zambetti, Ari J. Firestone, Jarrett R. Remsberg, Benjamin J. Huang, Jasmine C. Wong, Amanda M. Long, Marina Predovic, Radu M. Suciu, Anagha Inguva, Scott C. Kogan, Kevin M. Haigis, Benjamin F. Cravatt, Kevin Shannon

Blood (2020) 135 (20): 1772–1782.

https://doi.org/10.1182/blood.2019003530

Published: 2020

Includes: Supplemental data

Journal Articles

The Mystery of "Magic Blood" - Familial Macrothrombocytopenia Associated with a Novel Variant in GP1BA Gene

Zhaohui Liao Arter, MD, Caitlin Yatogo, MS, CGC, Michael C. Chicka, PhD, Jeffrey L. Berenberg, MD

Blood (2019) 134 (Supplement_1): 2380.

https://doi.org/10.1182/blood-2019-122384

Published: 2019

Journal Articles

Differentiating between Hyperdiploidy and Pseudo-Hyperdiploidy in B-Lymphoblastic Leukemia Utilizing Low-Coverage Mate-Pair Sequencing

James B Smadbeck, Beth A Pitel, MA, Kathryn E. Pearce, Sarah H Johnson, MS, Nicole Hoppman, Rhett P. Ketterling, MD, Patricia Griepp, MD, Linda B Baughn, PhD, George Vasmatzis, PhD, Jess Peterson, MD

Blood (2019) 134 (Supplement_1): 5212.

https://doi.org/10.1182/blood-2019-122440

Published: 2019

Journal Articles

Predicting the Long-Term Efficacy of Ifnα in JAK2 V617F and Calr -Mutated MPN Patients

Blood (2019) 134 (Supplement_1): 4196.

https://doi.org/10.1182/blood-2019-127903

Published: 2019

Journal Articles

Comparison of α LEPRA and α LELY Co-Inheritance with a SPTA1 Whole Gene Deletion, a Family Study

Molly S. Hein, Lea Coon, MS, LCGC, Tavanna R. Porter, MS, LCGC, Rong He, MD, Michelle E. Savedra, MT(ASCP), Laura J. Train, BS, Linnea M. Baudhuin, PhD, Andre M. Oliveira, MD PhD, Phuong L. Nguyen, MD, James D. Hoyer, MD, Aruna Rangan, MD, Jennifer L. Oliveira, MD

Blood (2019) 134 (Supplement_1): 2228.

https://doi.org/10.1182/blood-2019-125691

Published: 2019

Journal Articles

Computational Analysis Model Applied to Spanish Gaucher Registry Data

Marcio M Andrade-Campos, MD PhD, Laura Lopez de Frutos, PhD, Jorge J Cebolla, MSc, Blanca Medrano-Engay, PhD, Mercedes Roca-Espiau, PhD, Beatriz Gomez-Barrera, David Iniguez, Pilar Giraldo, PhD

Blood (2019) 134 (Supplement_1): 2323.

https://doi.org/10.1182/blood-2019-122347

Published: 2019

Journal Articles

A Novel Sandwich ELISA to Quantify Erythroferrone in Mouse Serum

Patrick Gutschow, MS, Huiling Han, MD, Gordana Olbina, PhD, Keith Westerman, BS, Eileen Westerman, BS, Marc Ruiz Martinez, PhD, Yelena Ginzburg, MD, Elizabeta Nemeth, PhD, Tomas Ganz, MD PhD, Vaughn Ostland, PhD

Blood (2019) 134 (Supplement_1): 2237.

https://doi.org/10.1182/blood-2019-130947

Published: 2019

Journal Articles

NUDT15 Variants Confer High Incidence of Secondary Malignancies of ALL in Children

Blood (2019) 134 (Supplement_1): 2751.

https://doi.org/10.1182/blood-2019-125713

Published: 2019

Journal Articles

New Germline Syndrome Discovery: Heterozygous CSF3R Mutations May Predispose to Myeloid and Lymphoid Malignancies

Amy M Trottier, MDBSc,MSc, Ira L Kraft, MD, Lawrence J Druhan, PhD, Amanda Lance, MS, Belinda R Avalos, MD, Lucy A Godley, MD PhD

Blood (2019) 134 (Supplement_1): 2543.

https://doi.org/10.1182/blood-2019-129492

Published: 2019

Journal Articles

Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML

Alison E Meyer, PhD, Cary Stelloh, Joseph B Fisher, PhD, Kirthi Pulakanti, George S. Vassiliou, FRCPath, MRCP, PhD, Aaron D Viny, MDMS, Ross L. Levine, MD, Sridhar Rao, MD PhD

Blood (2019) 134 (Supplement_1): 2515.

https://doi.org/10.1182/blood-2019-126042

Published: 2019

Journal Articles

Loss-of-Function and Gain-of-Function Consequences of GATA2 Disease Mutations

Koichi Ricardo Katsumura, MD PhD, Peng Liu, PhD, Charu Mehta, MS, Kyle J Hewitt, PhD, Alexandra Soukup, PhD, Isabela J Fraga de Andrade, Bachelors in Biological Science, Erik A. Ranheim, MD PhD, Kirby D Johnson, PhD, Emery H Bresnick, PhD

Blood (2019) 134 (Supplement_1): 2519.

https://doi.org/10.1182/blood-2019-129447

Published: 2019

Journal Articles

Mutational Type and Configuration of an Individual Gene May Differentially Impact the Clinical and Phenotypic Features

Yasunobu Nagata, MD PhD, Hideki Makishima, MD PhD, Cassandra M Kerr, MS, Bhumika J. Patel, MD, Hassan Awada, Vera Adema, PhD, Valeria Visconte, PhD, Sudipto Mukherjee, MD PhD MPH, Thomas Laframboise, PhD, Aziz Nazha, MD, Tomas Radivoyevitch, PhD, Mikkael A. Sekeres, MD MS, Seishi Ogawa, MD PhD, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 2992.

https://doi.org/10.1182/blood-2019-128893

Published: 2019

Journal Articles

Codanin-1 Mutations Engineered in Human Erythroid Cells Allow Investigation of Mechanisms Underlying Congenital Dyserythropoietic Anemia

Zachary C. Murphy, PhD, Michael Getman, MS, Jacquelyn Lillis, Laurie A. Steiner, MD

Blood (2019) 134 (Supplement_1): 3739.

https://doi.org/10.1182/blood-2019-127415

Published: 2019

Journal Articles

Combined Heterozygous Loss of Tet2 and Dnmt3a Along with Expression of Flt3 ITD/WT results in Acute Myeloid Leukemia Which Responds to a Combination of FLT3 Inhibitor, APE1 Inhibitor and Decitabine

Baskar Ramdas, PhD, Lakshmi Reddy Palam, PhD, Raghuveer Singh Mali, PhD, Zhigang Cai, PhD, Ruchi Pandey, PhD, Reuben Kapur, PhD

Blood (2019) 134 (Supplement_1): 3754.

https://doi.org/10.1182/blood-2019-131172

Published: 2019

Journal Articles

Involvement of RUNX1 Pathway Is a Common Event in the Leukemic Transformation of Chronic Myeloproliferative Neoplasms (MPNs)

Paola Guglielmelli, MD PhD, Niccolò Bartalucci, PhDBSc, Elisa Contini, PhD, Giada Rotunno, PhD, Annalisa Pacilli, PhD, Simone Romagnoli, BSc, Lara Mannelli, MD, Francesco Mannelli, MD, Giacomo Coltro, MD, Alessandro Pancrazzi, PhD, Valentina Ariu, BSci, Sara Fiaccabrino, Roberto Semeraro, Alberto Magi, PhD, Carmela Mannarelli, PhD, Francesca Gesullo, BSci, Chiara Paoli, PhD, Alessandro M. Vannucchi, MD

Blood (2019) 134 (Supplement_1): 2968.

https://doi.org/10.1182/blood-2019-129094

Published: 2019

Journal Articles

Feasibility of Peripheral Blood Stem Cell Collection from Heterozygoussickle Cell Trait Donors

Juergen Foell, MD, Morad Morez, Anja Troeger, MD, Katharina Kleinschmidt, MD PhD, Beatrix Pfirstinger, Andreas Brosig, MD PhD, Ralph Burkhardt, MD PhD, Selim Corbacioglu, MD, Norbert Ahrens

Blood (2019) 134 (Supplement_1): 1171.

https://doi.org/10.1182/blood-2019-131984

Published: 2019

Journal Articles

Causes of Death in 198 Sickle Cell Adult Patients: Old and New Trends

Anoosha Habibi, Stephanie Ngo, MD, Etienne Audureau, MD PhD, Armand Mekontso-Dessap, MD PhD, Keyvan Razazi, MD, Elena Foïs, MD, Thibaud Damy, MD PhD, France Pirenne, MD PhD, Marc Michel, Vincent Audard, MD PhD, Frédéric Galactéros, MD PhD, Pablo Bartolucci, MD PhD

Blood (2019) 134 (Supplement_1): 1031.

https://doi.org/10.1182/blood-2019-131304

Published: 2019

Journal Articles

Increased Allele Frequency of GNPAT p.D519G in Compound HFE p.C282Y/p.H63D Heterozygotes with Elevated Serum Ferritin Levels

Eriza S. Secondes, BSc (Honors), Daniel F. Wallace, PhD, Gautam Rishi, PhD, Gordon D. McLaren, MD, Christine E. McLaren, PhD, Wen-Pin Chen, MS, Louise Ramm, BSc, Lawrie W. Powell, MD PhD, Grant A. Ramm, PhD, James C. Barton, MD, V. Nathan Subramaniam, PhD

Blood (2019) 134 (Supplement_1): 4807.

https://doi.org/10.1182/blood-2019-128240

Published: 2019

Journal Articles

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

Sebastian Hesse, MD, Christoph Klein, MD PhD, Rappsilber Juri, Prof., Yoko Mizoguchi, Monika Linder, PhD, Piotr Grabowski, PhD, Zahra Alizadeh, PhD, Zahra Pourpak, MD PhD, Nima Rezaei, MD PhD, Sorin Iurian, MD PhD, Ekrem Unal, MD, Fabian Hauck, MD PhD, Ralf Zimmer, Prof., Gergely Csaba, PhD

Blood (2019) 134 (Supplement_1): 3580.

https://doi.org/10.1182/blood-2019-131136

Published: 2019

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Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

Genetic disruption of N-Ras G12D palmitoylation perturbs hematopoiesis and prevents myeloid transformation in mice

The Mystery of "Magic Blood" - Familial Macrothrombocytopenia Associated with a Novel Variant in GP1BA Gene

Differentiating between Hyperdiploidy and Pseudo-Hyperdiploidy in B-Lymphoblastic Leukemia Utilizing Low-Coverage Mate-Pair Sequencing

Predicting the Long-Term Efficacy of Ifnα in JAK2 V617F and Calr -Mutated MPN Patients

Comparison of α LEPRA and α LELY Co-Inheritance with a SPTA1 Whole Gene Deletion, a Family Study

Computational Analysis Model Applied to Spanish Gaucher Registry Data

A Novel Sandwich ELISA to Quantify Erythroferrone in Mouse Serum

NUDT15 Variants Confer High Incidence of Secondary Malignancies of ALL in Children

New Germline Syndrome Discovery: Heterozygous CSF3R Mutations May Predispose to Myeloid and Lymphoid Malignancies

Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML

Loss-of-Function and Gain-of-Function Consequences of GATA2 Disease Mutations

Mutational Type and Configuration of an Individual Gene May Differentially Impact the Clinical and Phenotypic Features

Codanin-1 Mutations Engineered in Human Erythroid Cells Allow Investigation of Mechanisms Underlying Congenital Dyserythropoietic Anemia

Combined Heterozygous Loss of Tet2 and Dnmt3a Along with Expression of Flt3 ITD/WT results in Acute Myeloid Leukemia Which Responds to a Combination of FLT3 Inhibitor, APE1 Inhibitor and Decitabine

Involvement of RUNX1 Pathway Is a Common Event in the Leukemic Transformation of Chronic Myeloproliferative Neoplasms (MPNs)

Feasibility of Peripheral Blood Stem Cell Collection from Heterozygoussickle Cell Trait Donors

Causes of Death in 198 Sickle Cell Adult Patients: Old and New Trends

Increased Allele Frequency of GNPAT p.D519G in Compound HFE p.C282Y/p.H63D Heterozygotes with Elevated Serum Ferritin Levels

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

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