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Journal Articles

Introduction to a review series on gene therapy and gene editing for sickle cell disease and hemophilia

Catherine M. Bollard

Blood (2021) 138 (11): 913.

https://doi.org/10.1182/blood.2021012891

Published: 2021

Journal Articles

Pediatric hemophagocytic lymphohistiocytosis

Scott W. Canna, Rebecca A. Marsh

Blood (2020) 135 (16): 1332–1343.

https://doi.org/10.1182/blood.2019000936

Published: 2020

Journal Articles

Mutation-Specific Dominant Negative Effects Determine the Phenotype in SRP54 D eficiency

Christoph Schuerch, MSc, Thorsten Schaefer, PhD, Joelle S. Müller, MSc, Pauline Hanns, MSc, Jonas Schärer, BSc, Julia Skokowa, MD PhD, Karl Welte, Raphael Carapito, PhD, Seiamak Bahram, MD, Martina Konantz, PhD, Claudia Lengerke, MD

Blood (2019) 134 (Supplement_1): 437.

https://doi.org/10.1182/blood-2019-127007

Published: 2019

Journal Articles

Detection and Analysis of Gene Mutations in Patients with Glanzmann's Thrombasthenia

Boyang Sun, Donglei Zhang, Huiyuan Li, Xueqing Dou, Renchi Yang, MD

Blood (2019) 134 (Supplement_1): 2373.

https://doi.org/10.1182/blood-2019-129446

Published: 2019

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

Incidence of Vaso-Occlusive Crisis Does Not Increase with Achieving Higher Hemoglobin Levels on Voxelotor Treatment or after Discontinuation: Analyses of the HOPE Study

Elliott P. Vichinsky, MD, Paul Telfer, DM, FRCP, Adlette Inati, MD, Margaret Tonda, PharmD, Barbara Tong, PhD, Irene Agodoa, MD, Joshua Lehrer-Graiwer, MD MPhil, FACC, Kenneth I. Ataga, MD

Blood (2019) 134 (Supplement_1): 2313.

https://doi.org/10.1182/blood-2019-129026

Published: 2019

Journal Articles

How Does Sickle Cell Disease Severity Affect Patient Collection of Disability Insurance and Income: An Analysis of US Survey Data

Jason Shafrin, Howard Z. Thom, Daisy Gaunt, Lauren M. Zhao, George J Joseph, Menaka Bhor, PhD, Avery A. Rizio, Lanetta Bronté-Hall, MPH, MSPH, MD, Nirmish Shah

Blood (2019) 134 (Supplement_1): 5781.

https://doi.org/10.1182/blood-2019-122774

Published: 2019

Journal Articles

The Role of Interferon, Inflammation and Infection in Aplastic Anemia

Katherine C. MacNamara, PhD

Blood (2019) 134 (Supplement_1): SCI-34.

https://doi.org/10.1182/blood-2019-121036

Published: 2019

Journal Articles

Pomalidomide Reduces Bleeding and Alters Expression of Angiogenesis-Related Proteins in Patients with Hereditary Hemorrhagic Telangiectasia

Shadi Swaidani, MD PhD, Suman Kundu, MBA, Mohamed Samour, MBBS, Bernard Silver, MD, Joseph Parambil, MD, Sonia Thomas, DrPH, Keith R McCrae, MD

Blood (2019) 134 (Supplement_1): 5761.

https://doi.org/10.1182/blood-2019-127344

Published: 2019

Journal Articles

An Educational Study Promoting the Delivery of TCD Screening in Paediatric Sickle Cell Disease: A European Multi-Centre Perspective

Baba PD Inusa, MD, Corrina Macmahon, MD, Laura Sainati, MD, Raffaella Colombatti, MD PhD, Maddalena Casale, MD PhD, Patrizia Rampazzo, MD, Silverio Perrotta, Soundrie Padayachee

Blood (2019) 134 (Supplement_1): 2172.

https://doi.org/10.1182/blood-2019-130390

Published: 2019

Journal Articles

An Autosomal Dominant SCID Form Due to a Gain of Function Mutation in the RAC2 Gene

Chantal Lagresle-Peyrou, PhD, Aurélien Olichon, Hanem Sadek, Philippe Roche, Claudine Tardy, Cindy Da Silva, Alexandrine Garrigue, Alain Fischer, MD PhD, Despina Moshous, MD PhD, Yves Collette, Capucine Picard, MD PhD, Jean-Laurent Casanova, PhD MD, Isabelle André, PhD, Marina Cavazzana, MD PhD

Blood (2019) 134 (Supplement_1): 3742.

https://doi.org/10.1182/blood-2019-126855

Published: 2019

Journal Articles

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

Anna Cordeiro, PhD, Adam P Deveau, MSc, Santhosh Dhanraj, PhD, Yigal Dror, MDFRCPC, Jason Berman, MD

Blood (2019) 134 (Supplement_1): 3744.

https://doi.org/10.1182/blood-2019-130147

Published: 2019

Journal Articles

Phase II Study of Eltrombopag in Subjects with Fanconi Anemia

Daisuke Araki, MD, Ma Evette Barranta, Fariba Chinian, MS, Julie Erb-Alvarez, MPH, Thomas Winkler, MD, Neelam Giri, MD, Andre Larochelle, MD PhD

Blood (2019) 134 (Supplement_1): 3753.

https://doi.org/10.1182/blood-2019-123151

Published: 2019

Journal Articles

Application of High-Throughput Sequencing in the Diagnosis of Inherited Immune-Thrombocytopenia from Children Chronic/Refractory ITP

Ma Jingyao, MD, Zhenping Chen, PhDMD, Huiqing LIU, Jialu Zhang, Hao GU, Runhui Wu, MD PhD

Blood (2019) 134 (Supplement_1): 86.

https://doi.org/10.1182/blood-2019-126771

Published: 2019

Journal Articles

CD244 Marks Non-Functional Hematopoietic Stem Cells with a Mast Cell Signature after Induction of Endoplasmic Reticulum Stress

Valgardur Sigurdsson, PhD, Shuhei Koide, PhD, Visnja Radulovic, PhD, Els Mansell, PhD, Mark Van Der Garde, MSc, PhD, Tiit Örd, PhD, Tonis Örd, PhD, Kenichi Miharada, PhD

Blood (2019) 134 (Supplement_1): 2474.

https://doi.org/10.1182/blood-2019-128239

Published: 2019

Journal Articles

Predictors of Disease Progression and Survival in Patients with Myelodysplastic Syndrome Secondary to Inherited Bone Marrow Failure Syndromes

Blood (2019) 134 (Supplement_1): 2507.

https://doi.org/10.1182/blood-2019-130129

Published: 2019

Journal Articles

Changing the Natural History of Fanconi Anemia Complementation Group-A with Gene Therapy: Early Results of U.S. Phase I Study of Lentiviral-Mediated Ex-Vivo FANCA Gene Insertion in Human Stem and Progenitor Cells

Agnieszka Czechowicz, MD PhD, Maria Grazia Roncarolo, MD, Brian C Beard, PhD, Ken Law, PhD, Eileen Nicoletti, MD, Paula Río, PhD, Juan A. Bueren, PhD, Jonathan D Schwartz, MD, Sandeep Soni, MBBS

Blood (2019) 134 (Supplement_1): 3350.

https://doi.org/10.1182/blood-2019-127352

Published: 2019

Journal Articles

Economic Burden of End Organ Damage Among Patients with Sickle Cell Disease in the US

Xue Song, Andrew D. Campbell, MD, Ze Cong, PhD, Irene Agodoa, MD, Diane Martinez, DrPH, MPH, Carolyn R. Lew, PhD, Danae Black, Helen Varker, Chris Chan, Sophie M. Lanzkron, MD

Blood (2019) 134 (Supplement_1): 3388.

https://doi.org/10.1182/blood-2019-127173

Published: 2019

Journal Articles

Evolution of Moderate Aplastic Anemia into Subclinical PNH/AA and Successful Treatment with Reduced Intensity Haplo-HSCT: A Pediatric Case Report

Meghana Srinivas, Jennifer Krajewski, MD, Nancy Durning, APN, Melanie Hankewycz, APN, Alfred Gillio, MD

Blood (2019) 134 (Supplement_1): 5027.

https://doi.org/10.1182/blood-2019-130407

Published: 2019

Journal Articles

Mitapivat (AG-348) in Adults with Pyruvate Kinase Deficiency Who Are Not Regularly Transfused: A Phase 3, Randomized, Multicenter, Double-Blind, Placebo-Controlled Study (ACTIVATE) in Progress

Eduard J. van Beers, MD PhD, Malia P. Judge, BS, RN, Lei Hua, PhD, Chris Mix, MD

Blood (2019) 134 (Supplement_1): 4791.

https://doi.org/10.1182/blood-2019-123100

Published: 2019

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Introduction to a review series on gene therapy and gene editing for sickle cell disease and hemophilia

Pediatric hemophagocytic lymphohistiocytosis

Mutation-Specific Dominant Negative Effects Determine the Phenotype in SRP54 D eficiency

Detection and Analysis of Gene Mutations in Patients with Glanzmann's Thrombasthenia

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

Incidence of Vaso-Occlusive Crisis Does Not Increase with Achieving Higher Hemoglobin Levels on Voxelotor Treatment or after Discontinuation: Analyses of the HOPE Study

How Does Sickle Cell Disease Severity Affect Patient Collection of Disability Insurance and Income: An Analysis of US Survey Data

The Role of Interferon, Inflammation and Infection in Aplastic Anemia

Pomalidomide Reduces Bleeding and Alters Expression of Angiogenesis-Related Proteins in Patients with Hereditary Hemorrhagic Telangiectasia

An Educational Study Promoting the Delivery of TCD Screening in Paediatric Sickle Cell Disease: A European Multi-Centre Perspective

An Autosomal Dominant SCID Form Due to a Gain of Function Mutation in the RAC2 Gene

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

Phase II Study of Eltrombopag in Subjects with Fanconi Anemia

Application of High-Throughput Sequencing in the Diagnosis of Inherited Immune-Thrombocytopenia from Children Chronic/Refractory ITP

CD244 Marks Non-Functional Hematopoietic Stem Cells with a Mast Cell Signature after Induction of Endoplasmic Reticulum Stress

Predictors of Disease Progression and Survival in Patients with Myelodysplastic Syndrome Secondary to Inherited Bone Marrow Failure Syndromes

Changing the Natural History of Fanconi Anemia Complementation Group-A with Gene Therapy: Early Results of U.S. Phase I Study of Lentiviral-Mediated Ex-Vivo FANCA Gene Insertion in Human Stem and Progenitor Cells

Economic Burden of End Organ Damage Among Patients with Sickle Cell Disease in the US

Evolution of Moderate Aplastic Anemia into Subclinical PNH/AA and Successful Treatment with Reduced Intensity Haplo-HSCT: A Pediatric Case Report

Mitapivat (AG-348) in Adults with Pyruvate Kinase Deficiency Who Are Not Regularly Transfused: A Phase 3, Randomized, Multicenter, Double-Blind, Placebo-Controlled Study (ACTIVATE) in Progress

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