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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

The U1 Spliceosomal RNA: A Novel Non-Coding Hotspot Driver Mutation Independently Associated with Clinical Outcome in Chronic Lymphocytic Leukemia

Blood (2019) 134 (Supplement_1): 847.

https://doi.org/10.1182/blood-2019-130052

Published: 2019

Journal Articles

Zinc Finger Nuclease-Mediated Disruption of the BCL11A Erythroid Enhancer Results in Enriched Biallelic Editing, Increased Fetal Hemoglobin, and Reduced Sickling in Erythroid Cells Derived from Sickle Cell Disease Patients

Samuel Lessard, PhD, Pauline Rimmele, PhD, Hui Ling, PhD, Kevin Moran, MSc, Benjamin Vieira, BS, Yi-Dong Lin, PhD, Vu Hong, PhD, Andreas Reik, PhD, Denny Dang, Naoya Uchida, MD, John F. Tisdale, MD, Pablo Rendo, MD, Ahmed Daak, PhD, Alexandra Hicks, PhD

Blood (2019) 134 (Supplement_1): 974.

https://doi.org/10.1182/blood-2019-126048

Published: 2019

Journal Articles

Aberrant RNA Splicing Contributes to the Pathogenesis of EVI-Rearranged Myeloid Leukemias

Daichi Inoue, MD PhD, Stanley C Lee, PhD, Akihide Yoshimi, MD PhD, Justin Taylor, MD, Lillian E Bitner, BSc, Atsushi Tanaka, MD, Yasutaka Hayashi, MD PhD, Hana Cho, MSc, Chie Fukui, Ruth Saganty, Alexander V Penson, PhD, Omar Abdel-Wahab, MD

Blood (2019) 134 (Supplement_1): 917.

https://doi.org/10.1182/blood-2019-124722

Published: 2019

Journal Articles

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

Reena Das, MD, Manu Jamwal, PhD, Anu Aggarwal, PhD, Prashant Sharma, DM, Man Updesh Singh Sachdeva, MD, Deepak Bansal, MD, Sreejesh Sreedharanunni, DM, Narender Kumar, MD, Shano Naseem, MD, Jasmina Ahluwalia, MD, Neelam Varma, MD, Pankaj Malhotra, MD, Arindam Maitra, PhD

Blood (2019) 134 (Supplement_1): 950.

https://doi.org/10.1182/blood-2019-126453

Published: 2019

Journal Articles

Recurrent Non-Coding Mutations in BCL7A May Have Significant Functional Consequence in Multiple Myeloma

Chandraditya Chakraborty, PhD, Eugenio Morelli, MD, María Linares, PhD, Kenneth C. Anderson, MD, Mehmet Kemal Samur, PhD, Mariateresa Fulciniti, PhD, Nikhil C. Munshi, MD

Blood (2019) 134 (Supplement_1): 857.

https://doi.org/10.1182/blood-2019-129155

Published: 2019

Journal Articles

The Biological and Clinical Implications of the Alternative Splicing Landscape of 1,258 Myeloid Neoplasm Cases

Courtney E Hershberger, BS, Devlin C Moyer, BS, Wencke Walter, PhD, Stephan Hutter, PhD, Claudia Haferlach, MD, Torsten Haferlach, MD, Jaroslaw P. Maciejewski, MD PhD, Richard A Padgett, PhD

Blood (2019) 134 (Supplement_1): 769.

https://doi.org/10.1182/blood-2019-128278

Published: 2019

Journal Articles

Higher Incidence of Neutralizing Anti-FVIII Antibodies (Inhibitors) in Black and Hispanic American Hemophilia A Patients Enrolled in the My Life, Our Future Programme

Kathleen P. Pratt, PhD

Blood (2019) 134 (Supplement_1): 901.

https://doi.org/10.1182/blood-2019-127412

Published: 2019

Journal Articles

Association of Germline Variants of TCF3 and PAX5 with Pediatric Acute Lymphoblastic Leukemia Development

Satoshi Miyamoto, MD, Takuya Naruto, MD PhD, Tomohiro Morio, MD PhD, Kevin Y Urayama, PhD MPH, Atsushi Manabe, MD PhD, Masatoshi Takagi, MD PhD

Blood (2019) 134 (Supplement_1): 1466.

https://doi.org/10.1182/blood-2019-128313

Published: 2019

Journal Articles

FVIII Protein Is Not Detectable in Human PBMCs or Livers from Dogs with an Intron-22 Inversion Mutation: Implications for FVIII Immunogenicity and Tolerance

Devi Gunasekera, MBBS, Pooja Vir, PhD, Ahmad Faisal Karim, PhD, Margaret V. Ragni, MD MPH, Elizabeth P. Merricks, PhD, Timothy C. Nichols, MD, Kathleen P. Pratt, PhD

Blood (2019) 134 (Supplement_1): 630.

https://doi.org/10.1182/blood-2019-124880

Published: 2019

Journal Articles

RNA Splicing Defects in Cancer-Linked Genes Indicate Mutation or Focal Gene Deletion and Are Associated with TKI Resistance in CML

Naranie Shanmuganathan, MBBS FRACP FRCPA, Daniel Thomson, PhD BSc, Carol Wadham, PhD, Verity A Saunders, Nur Hezrin Shahrin, PhD, David T Yeung, PhDBSc,FRACP,FRCPA,MBBS, Hamish S Scott, PhD FFSc (RCPA), Timothy P. Hughes, MDMBBS,FRACP,FRCPA, Andreas Schreiber, Susan Branford, PhD FFSc (RCPA)

Blood (2019) 134 (Supplement_1): 662.

https://doi.org/10.1182/blood-2019-123180

Published: 2019

Journal Articles

Identification of Recurrent Alternative RNA Splicing in Adverse-Risk Acute Myeloid Leukemia

Govardhan Anande, Ashwin Unnikrishnan, PhD, Nandan Deshpande, PhD, Sylvain Mareschal, Aarif M. N. Batcha, Tobias Herold, MD, Sören Lehmann, MD PhD, Marc Wilkins, PhD, Jason Wong, PhD, John Pimanda, MBBS, PhD

Blood (2019) 134 (Supplement_1): 457.

https://doi.org/10.1182/blood-2019-129537

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

The U1 Spliceosomal RNA: A Novel Non-Coding Hotspot Driver Mutation Independently Associated with Clinical Outcome in Chronic Lymphocytic Leukemia

Zinc Finger Nuclease-Mediated Disruption of the BCL11A Erythroid Enhancer Results in Enriched Biallelic Editing, Increased Fetal Hemoglobin, and Reduced Sickling in Erythroid Cells Derived from Sickle Cell Disease Patients

Aberrant RNA Splicing Contributes to the Pathogenesis of EVI-Rearranged Myeloid Leukemias

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

Recurrent Non-Coding Mutations in BCL7A May Have Significant Functional Consequence in Multiple Myeloma

The Biological and Clinical Implications of the Alternative Splicing Landscape of 1,258 Myeloid Neoplasm Cases

Higher Incidence of Neutralizing Anti-FVIII Antibodies (Inhibitors) in Black and Hispanic American Hemophilia A Patients Enrolled in the My Life, Our Future Programme

Association of Germline Variants of TCF3 and PAX5 with Pediatric Acute Lymphoblastic Leukemia Development

FVIII Protein Is Not Detectable in Human PBMCs or Livers from Dogs with an Intron-22 Inversion Mutation: Implications for FVIII Immunogenicity and Tolerance

RNA Splicing Defects in Cancer-Linked Genes Indicate Mutation or Focal Gene Deletion and Are Associated with TKI Resistance in CML

Identification of Recurrent Alternative RNA Splicing in Adverse-Risk Acute Myeloid Leukemia

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