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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

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

B Cell Restricted Expression of Mutated IKZF3 modulates BCR Signaling and Homing Pathways in a Mouse Model of CLL

Gregory Lazarian, PharmD, Shanye Yin, PhD, Elisa Ten Hacken, PhD, Tomasz Sewastianik, MSc,PhD, Alba Font-tello, PhD, Heather Joyal, Elizabeth Witten, Mei Zheng, Christopher J. Ott, PhD, Donna S Neuberg, ScD, Lili Wang, MD PhD, Ruben D. Carrasco, MD PhD, Catherine J. Wu, MD

Blood (2019) 134 (Supplement_1): 848.

https://doi.org/10.1182/blood-2019-123963

Published: 2019

Journal Articles

The Inherited MDS Gene DDX41 Is Required for Ribosome Biogenesis and Cell Viability

Timothy M Chlon, PhD, Emily Stepanchick, Kwangmin Choi, PhD, Yi Zheng, PhD, Kathleen Hueneman, Ashley Davis, Daniel T. Starczynowski, PhD

Blood (2019) 134 (Supplement_1): 773.

https://doi.org/10.1182/blood-2019-127471

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

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

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

Probing Aberrant Splicing in a Novel Model of SF3B1-Mutant Myelodysplastic Syndromes

Courtnee Clough, Stephanie Busch, B.S., Joey Pangallo, B.S., Robert K. Bradley, PhD, Sergei Doulatov, PhD

Blood (2019) 134 (Supplement_1): 1706.

https://doi.org/10.1182/blood-2019-129176

Published: 2019

Journal Articles

Genetics of Monosomy 7 and Del(7q) in MDS Informs Potential Therapeutic Targets

Cassandra M Kerr, MS, Vera Adema, PhD, Wencke Walter, PhD, Stephan Hutter, PhD, Christina A. Snider, BA, Yasunobu Nagata, MD PhD, Manja Meggendorfer, PhD, Claudia Haferlach, MD, Valeria Visconte, PhD, Mikkael A. Sekeres, MD MS, Thomas Laframboise, PhD, Torsten Haferlach, MD, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 1703.

https://doi.org/10.1182/blood-2019-126866

Published: 2019

Journal Articles

Deciphering the Role of Locally Disordered DNA Methylation on CLL Development In Vivo

Anat Biran, PhD, Helene Kretzmer, PhD, Shanye Yin, PhD, Leah Billington, BA, Fara Faye Regis, BS, Arman W. Mohammad, BA, Andreas Gnirke, Donna S Neuberg, ScD, Ruben D. Carrasco, MD PhD, Alexander Meissner, PhD, Catherine J. Wu, MD

Blood (2019) 134 (Supplement_1): 1737.

https://doi.org/10.1182/blood-2019-130744

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

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

B Cell Restricted Expression of Mutated IKZF3 modulates BCR Signaling and Homing Pathways in a Mouse Model of CLL

The Inherited MDS Gene DDX41 Is Required for Ribosome Biogenesis and Cell Viability

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

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

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

Probing Aberrant Splicing in a Novel Model of SF3B1-Mutant Myelodysplastic Syndromes

Genetics of Monosomy 7 and Del(7q) in MDS Informs Potential Therapeutic Targets

Deciphering the Role of Locally Disordered DNA Methylation on CLL Development In Vivo

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