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Journal Articles

Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia

Paolo Simioni, Stefano Cagnin, Francesca Sartorello, Gabriele Sales, Luca Pagani, Cristiana Bulato, Sabrina Gavasso, Francesca Nuzzo, Francesco Chemello, Claudia M. Radu, Daniela Tormene, Luca Spiezia, Tilman M. Hackeng, Elena Campello, Elisabetta Castoldi

Blood (2021) 137 (17): 2383–2393.

https://doi.org/10.1182/blood.2020008168

Published: 2021

Includes: Supplemental data

Journal Articles

Cryptic insertion of KMT2A , a rare t(9;11) variant

Nada Assaf, Christine Terré

Blood (2021) 137 (13): 1843.

https://doi.org/10.1182/blood.2020010442

Published: 2021

Journal Articles

The different flavors and splices of MCL

Oliver Weigert

Blood (2020) 136 (5): 526–527.

https://doi.org/10.1182/blood.2020005591

Published: 2020

Journal Articles

An evolutionarily ancient mechanism for regulation of hemoglobin expression in vertebrate red cells

Masato Miyata, Nynke Gillemans, Dorit Hockman, Jeroen A. A. Demmers, Jan-Fang Cheng, Jun Hou, Matti Salminen, Christopher A. Fisher, Stephen Taylor, Richard J. Gibbons, Jared J. Ganis, Leonard I. Zon, Frank Grosveld, Eskeatnaf Mulugeta, Tatjana Sauka-Spengler, Douglas R. Higgs, Sjaak Philipsen

Blood (2020) 136 (3): 269–278.

https://doi.org/10.1182/blood.2020004826

Published: 2020

Includes: Multimedia, Supplemental data

Journal Articles

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Blood (2019) 134 (23): 2082–2091.

https://doi.org/10.1182/blood.2018891192

Published: 2019

Includes: Supplemental data

Journal Articles

Alternative Splicing and Intronic Polyadenylation Post-Transcriptionally Regulate CSF3R Via a Cryptic Exon

Lawrence J Druhan, PhD, Amanda Lance, MS, Alicia Hamilton, Nury M Steuerwald, PhD, Elise Tjaden, Belinda R Avalos, MD

Blood (2019) 134 (Supplement_1): 2462.

https://doi.org/10.1182/blood-2019-129102

Published: 2019

Journal Articles

Mutation of Murine Rpl5 reveals a New Model for Diamond Blackfan Anemia Characterized By Defective Erythropoiesis

Philippe Lemay, PhD, Morgan A Jones, MD PhD BS, MS, Fatma Mohamed, Marie-Claude Guyot, Alexander Ludlow, Qing Li, MD, James Douglas Engel, PhD, Renny Franceschi, PhD, Thomas L. Rothstein, MD PhD, Vesa Kaartinen, PhD, Zoha Kibar, PhD, Sharon A Singh, MD

Blood (2019) 134 (Supplement_1): 2495.

https://doi.org/10.1182/blood-2019-131526

Published: 2019

Journal Articles

Characterization of Clonal Dynamics after Hematopoietic Cell Transplantation Using Ultra-Sensitive Duplex Sequencing

Jacob Higgins, PhD, Gabriel Pratt, PhD, Charles C. Valentine, MS, Lindsey N. Williams, PhD, Masumi Ueda, MD, Rainer Storb, MD, Jerald P. Radich, MD, Jesse J. Salk, MD PhD

Blood (2019) 134 (Supplement_1): 2483.

https://doi.org/10.1182/blood-2019-122490

Published: 2019

Journal Articles

2'-O-Methoxyethyl Splice-Switching Oligos to Reverse Splicing from IVS2-745 β-Thalassemia Patient Cells: A Foundation for Potential Therapies

Blood (2019) 134 (Supplement_1): 2244.

https://doi.org/10.1182/blood-2019-127017

Published: 2019

Journal Articles

Clinical, Laboratory and Molecular Characterization of Factor VII, Factor X and Their Combined Deficiencies in a Tertiary Care Center

Bereczky Zsuzsanna, MD PhD, Speker Marianna, Al-Muhanna Marie, Balogh Gábor, Boda Zoltán, MD PhD DSc, Pfliegler György, MD PhD, Schlammadinger Ágota, MD PhD, Kerényi Adrienn, MD PhD, Csongor Kiss, MD PhD DSc

Blood (2019) 134 (Supplement_1): 2394.

https://doi.org/10.1182/blood-2019-125504

Published: 2019

Journal Articles

On the Role of F8 Sequence Mismatch and Class-II Human Leukocyte Antigen Binding in the Development of Neutralizing Antibodies ("Inhibitors") Directed Against Therapeutic Factor VIII Proteins (tFVIIIs): Evidence from the PATH Study

Vincent P. Diego, PhD, Bernadette W. Luu, B.S., M.T. (CLS), Afshin Ameri, MD, Meera B. Chitlur, MD, Marcio A. Almeida, PhD, Karin Haack, PhD, Satish Kumar, PhD, Long V. Dinh, PhD, Henry Mead, M.B.A., M.P.H., Jerry S. Powell, MD, Miguel A. Escobar, MD, Raja Rajalingam, PhD, Sarah Williams-Blangero, PhD, Carol K. Kasper, MD, Laura Almasy, PhD, Shelley Cole, PhD, John Blangero, PhD, Tom E. Howard, MD, PhD

Blood (2019) 134 (Supplement_1): 2393.

https://doi.org/10.1182/blood-2019-132218

Published: 2019

Journal Articles

MPO as a Novel Susceptibility Gene in Myeloid Malignancies

Samuel Li, BA, Ruipeng Wei, Janet Wang, Undergraduate, Vera Adema, PhD, Teodora Kuzmanovic, BA, Bartlomiej P. Przychodzen, Yasunobu Nagata, MD PhD, Cassandra M Kerr, MS, Babal K. Jha, PhD, Francesc Sole, PhD, Torsten Haferlach, MD, Jaroslaw P. Maciejewski, MD PhD, Thomas Laframboise, PhD

Blood (2019) 134 (Supplement_1): 5402.

https://doi.org/10.1182/blood-2019-122127

Published: 2019

Journal Articles

Germinal Predisposition in Myelodysplastic Syndromes in Young Adults without a Preexisting Disorder or Organ Dysfunction: Identification of Deleterious Variants in Microsatellite Instability Genes

Blood (2019) 134 (Supplement_1): 4226.

https://doi.org/10.1182/blood-2019-127204

Published: 2019

Journal Articles

Emicizumab Prophylaxis in Patients with Hemophilia Α with and without Inhibitors

Patrick T. Ebbert, BS, Frederico Xavier, MD MS, Craig D. Seaman, MD MS, Margaret V. Ragni, MD MPH

Blood (2019) 134 (Supplement_1): 2416.

https://doi.org/10.1182/blood-2019-123198

Published: 2019

Journal Articles

Whole Genome Sequencing Identifies Small Deletions in Ribosomal Genes Causing Diamond Blackfan Anemia

David M. Bodine, PhD, Jens Lichtenberg, Nancy Seidel, NISC Comparative SequencingProgram, G. Jayashree Jagadeesh, John G Conboy, PhD, Jason E. Farrar, MD, Jessica Kang, BS, Lionel Blanc, PhD, Evangelia Atsidaftos, MA, MPH, Steven Ellis, PhD, Jeffrey Michael M Lipton, MD PhD, Adrianna Vlachos, MD

Blood (2019) 134 (Supplement_1): 2502.

https://doi.org/10.1182/blood-2019-121710

Published: 2019

Journal Articles

FLT3-ITD Activates Cytoplasmic Drosha-Dependent Non-Canonical Mechanisms of Mir-155 Biogenesis in Acute Myeloid Leukemia

Le Xuan Truong Nguyen, PhD, Bin Zhang, PhD, Dinh Hoa Hoang, BS, Dandan Zhao, MD, Sergio Branciamore, Davide Maestrini, PhD, Yu-Lin SU, PhD, Sonia Rodriguez, PhD, Flavia Pichiorri, PhD, Steven Rosen, MD, Michael A. Caligiuri, MD, Stephen J. Forman, MD, Ling Li, PhD, Marcin Kortylewski, PhD, Russell Rockne, PhD, Ya-Huei Kuo, PhD, Nadia Carlesso, MD, Guido Marcucci, MD

Blood (2019) 134 (Supplement_1): 2722.

https://doi.org/10.1182/blood-2019-131871

Published: 2019

Journal Articles

Somatic Mutations and Loss of Heterozygosity of HLA Genes Are Frequently Occurred and Tightly Associated with Poor Prognosis in Adult T Cell Leukemia-Lymphoma

Keita Tamaki, MD, Satoko Morishima, MD PhD, Shingo Suzuki, PhD, Atsuko Shigenari, Ikumi Nomura, Yutaro Yokota, Kazuho Morichika, MD, Yukiko Nishi, MD PhD, Sawako Nakachi, MD PhD, Shiki Okamoto, PhD, Kennosuke Karube, MD PhD, Takuya Fukushima, MD PhD, Takashi Shiina, PhD, Hiroaki Masuzaki, MD PhD

Blood (2019) 134 (Supplement_1): 2785.

https://doi.org/10.1182/blood-2019-128070

Published: 2019

Journal Articles

The Splicing Modulator GEX1A Exhibits Potent Anti-Leukemic Activity Both in Vitro and In Vivo through Inducing an MCL1 Splice-Switch in Pre-Clinical Models of Acute Myeloid Leukemia

Mark Sellin, Ryan Mack, Matthew C. Rhodes, Lei Zhang, PhD, Wei Wei, Peter Breslin, PhD, Stephanie Berg, DO, Suming Huang, PhD, Richard Taylor, PhD, Jiwang Zhang, MD

Blood (2019) 134 (Supplement_1): 2666.

https://doi.org/10.1182/blood-2019-132030

Published: 2019

Journal Articles

Altered Genomic and Epigenetic Profiling of Myeloma Bone Marrow Stromal Cells Identifies Targets for Current and Future Immunotherapeutic Approaches

Sophia Adamia, PhD, Daisuke Ogiya, MD PhD, Ivane Abiatari, MD, Sigitas J Verselis, PhD, Michael P. Chu, David M. Dorfman, MD PhD, Linda M. Pilarski, PhD, Teru Hideshima, MD PhD, Kenneth C. Anderson, MD

Blood (2019) 134 (Supplement_1): 3079.

https://doi.org/10.1182/blood-2019-131243

Published: 2019

Journal Articles

Hotspot U2AF1 Mutations Determine Missplicing Selectivity: Novel Mechanisms Altering Splicing Factors

Vera Adema, PhD, Courtney E Hershberger, BS, Wencke Walter, PhD, Cassandra M Kerr, MS, Stephan Hutter, PhD, Yasunobu Nagata, MD PhD, Hassan Awada, Sunisa Kongkiatkamon, Christina Snider, Milo Co, Manja Meggendorfer, PhD, Aziz Nazha, MD, Hetty E. Carraway, MD MBA, Mikkael A. Sekeres, MD MS, Francesc Sole, PhD, Richard A Padgett, PhD, Torsten Haferlach, MD, Jaroslaw P. Maciejewski, MD PhD, Valeria Visconte, PhD

Blood (2019) 134 (Supplement_1): 2985.

https://doi.org/10.1182/blood-2019-129367

Published: 2019

NARROW

Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia

Cryptic insertion of KMT2A , a rare t(9;11) variant

The different flavors and splices of MCL

An evolutionarily ancient mechanism for regulation of hemoglobin expression in vertebrate red cells

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Alternative Splicing and Intronic Polyadenylation Post-Transcriptionally Regulate CSF3R Via a Cryptic Exon

Mutation of Murine Rpl5 reveals a New Model for Diamond Blackfan Anemia Characterized By Defective Erythropoiesis

Characterization of Clonal Dynamics after Hematopoietic Cell Transplantation Using Ultra-Sensitive Duplex Sequencing

2'-O-Methoxyethyl Splice-Switching Oligos to Reverse Splicing from IVS2-745 β-Thalassemia Patient Cells: A Foundation for Potential Therapies

Clinical, Laboratory and Molecular Characterization of Factor VII, Factor X and Their Combined Deficiencies in a Tertiary Care Center

On the Role of F8 Sequence Mismatch and Class-II Human Leukocyte Antigen Binding in the Development of Neutralizing Antibodies ("Inhibitors") Directed Against Therapeutic Factor VIII Proteins (tFVIIIs): Evidence from the PATH Study

MPO as a Novel Susceptibility Gene in Myeloid Malignancies

Germinal Predisposition in Myelodysplastic Syndromes in Young Adults without a Preexisting Disorder or Organ Dysfunction: Identification of Deleterious Variants in Microsatellite Instability Genes

Emicizumab Prophylaxis in Patients with Hemophilia Α with and without Inhibitors

Whole Genome Sequencing Identifies Small Deletions in Ribosomal Genes Causing Diamond Blackfan Anemia

FLT3-ITD Activates Cytoplasmic Drosha-Dependent Non-Canonical Mechanisms of Mir-155 Biogenesis in Acute Myeloid Leukemia

Somatic Mutations and Loss of Heterozygosity of HLA Genes Are Frequently Occurred and Tightly Associated with Poor Prognosis in Adult T Cell Leukemia-Lymphoma

The Splicing Modulator GEX1A Exhibits Potent Anti-Leukemic Activity Both in Vitro and In Vivo through Inducing an MCL1 Splice-Switch in Pre-Clinical Models of Acute Myeloid Leukemia

Altered Genomic and Epigenetic Profiling of Myeloma Bone Marrow Stromal Cells Identifies Targets for Current and Future Immunotherapeutic Approaches

Hotspot U2AF1 Mutations Determine Missplicing Selectivity: Novel Mechanisms Altering Splicing Factors

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American Society of Hematology

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