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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

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

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

Gata2 Expression and Function in PML-RARA- driven Preleukemia and APL

Casey D.S. Katerndahl, PhD, Timothy J Ley, MD, Michelle A Cai, Timothy P Rooney, Jr., Sai Mukund Ramakrishnan, MS, Sridhar Nonavinkere Srivatsan, MS, Christopher A Miller, PhD

Blood (2019) 134 (Supplement_1): 534.

https://doi.org/10.1182/blood-2019-131883

Published: 2019

Journal Articles

Identification of New Risk Loci and Regulatory Mechanisms Influencing Genetic Susceptibility to Acute Lymphoblastic Leukaemia

Blood (2019) 134 (Supplement_1): 650.

https://doi.org/10.1182/blood-2019-125791

Published: 2019

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

Mutations Affecting RNA Binding Proteins Are a Novel Feature of Mantle Cell Lymphoma

Blood (2019) 134 (Supplement_1): 1478.

https://doi.org/10.1182/blood-2019-129136

Published: 2019

Journal Articles

Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data

Christopher N Hahn, PhD, Milena Babic, BMPharBio (Hons), Peter J Brautigan, BSc (Hons), Parvathy Venugopal, PhD MSc, BSc, Kerry Phillips, Julia Dobbins, BSc (Hons), Peer Arts, PhD, Amilia Wee, BSc (Hons), Deepak Singhal, MBBS,MDFRACP,FRCPA, Devendra K Hiwase, MBBS, MD FRACP, FRCPA, PhD, Jinghua Feng, PhD, Andreas W Schreiber, PhD, Richard J D'Andrea, PhD, Nicola Poplawski, MD, Anna L Brown, PhD, Hamish S Scott, PhD FFSc (RCPA)

Blood (2019) 134 (Supplement_1): 1439.

https://doi.org/10.1182/blood-2019-131686

Published: 2019

Journal Articles

Mutational Landscape of Pediatric Acute Myeloid Leukemia: A Report of the AML-BFM Study Group with a Targeted NGS Approach in 525 Patients Integrating De Novo, Relapsed and Secondary AML

Christiane Walter, MSc, Markus Schneider, PhD, Nils Von Neuhoff, PhD, Helmut Hanenberg, MD, Dirk Reinhardt, MD, Mareike Rasche, MD

Blood (2019) 134 (Supplement_1): 1398.

https://doi.org/10.1182/blood-2019-129778

Published: 2019

Journal Articles

Leukemic Stem Cell Phenotype Is Associated with Mutational Profile in Acute Myeloid Leukemia

Ja Min Byun, MD, Dong-Yeop Shin, MD PhD, Youngil Koh, Sung-Soo Yoon, MD PhD, Junshik Hong, MD, Inho Kim, MD PhD

Blood (2019) 134 (Supplement_1): 3852.

https://doi.org/10.1182/blood-2019-126373

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

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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

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

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

Gata2 Expression and Function in PML-RARA- driven Preleukemia and APL

Identification of New Risk Loci and Regulatory Mechanisms Influencing Genetic Susceptibility to Acute Lymphoblastic Leukaemia

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

Mutations Affecting RNA Binding Proteins Are a Novel Feature of Mantle Cell Lymphoma

Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data

Mutational Landscape of Pediatric Acute Myeloid Leukemia: A Report of the AML-BFM Study Group with a Targeted NGS Approach in 525 Patients Integrating De Novo, Relapsed and Secondary AML

Leukemic Stem Cell Phenotype Is Associated with Mutational Profile in Acute Myeloid Leukemia

Emicizumab Prophylaxis in Patients with Hemophilia Α with and without Inhibitors

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

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