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Journal Articles

A homozygous deletion in the SLC19 A1 gene as a cause of folate-dependent recurrent megaloblastic anemia

Michael Svaton, Karolina Skvarova Kramarzova, Veronika Kanderova, Andrea Mancikova, Petr Smisek, Pavel Jesina, Jakub Krijt, Blanka Stiburkova, Robert Dobrovolny, Jitka Sokolova, Violeta Bakardjieva-Mihaylova, Elena Vodickova, Marketa Rackova, Jan Stuchly, Tomas Kalina, Jan Stary, Jan Trka, Eva Fronkova, Viktor Kozich

Blood (2020) 135 (26): 2427–2431.

https://doi.org/10.1182/blood.2019003178

Published: 2020

Includes: Supplemental data

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

Identification of a Spontaneous Noncoding Mutation on Chromosome 18 Which Suppresses Thrombosis in Factor V Leiden Homozygous, TFPI Deficient Mice

Marisa A Brake, BSc, McKenzie A Allen, BSc, Guojing Zhu, MD, Amy E Siebert, PhD, Randal J Westrick, PhD

Blood (2019) 134 (Supplement_1): 483.

https://doi.org/10.1182/blood-2019-130936

Published: 2019

Journal Articles

Homozygosity for -2518 G Allele Variant of MCP-1 Predisposes to Adverse Presentation and Outcome in Primary Myelofibrosis

Elena Masselli, MD, Cecilia Carubbi, PhD, Giulia Pozzi, MS, Antonio Percesepe, MD PhD, Rita Campanelli, Laura Villani, Giuliana Gobbi, PhD, Vittorio Rosti, MD, Margherita Massa, Giovanni Barosi, Marco Vitale, MD

Blood (2019) 134 (Supplement_1): 1689.

https://doi.org/10.1182/blood-2019-122750

Published: 2019

Journal Articles

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

Sebastian Hesse, MD, Christoph Klein, MD PhD, Rappsilber Juri, Prof., Yoko Mizoguchi, Monika Linder, PhD, Piotr Grabowski, PhD, Zahra Alizadeh, PhD, Zahra Pourpak, MD PhD, Nima Rezaei, MD PhD, Sorin Iurian, MD PhD, Ekrem Unal, MD, Fabian Hauck, MD PhD, Ralf Zimmer, Prof., Gergely Csaba, PhD

Blood (2019) 134 (Supplement_1): 3580.

https://doi.org/10.1182/blood-2019-131136

Published: 2019

Journal Articles

Evaluating the Volumetric Liver Fat Fraction in Patients Referred for Investigation of Hyperferritinemia

Aoife Dervin, MBBS, BSc, MRCP, Perla Eleftheriou, FRCPath, MRCP, Deepak Suri, MBBS FRCP, Sara Trompeter, MBChB BSc MRCPCH FRCPath MSc, Maciej W Garbowski, MD PhD, Tim St. Pierre, John B. Porter, MA MDFRCP FRCPath, Emma Drasar, MBBS MRCP FRCPath PhD

Blood (2019) 134 (Supplement_1): 3539.

https://doi.org/10.1182/blood-2019-128122

Published: 2019

Journal Articles

Association between Sensorineural Hearing Loss and Homozygous Sickle Cell Anemia: A Meta-Analysis

Zachary Monroe Kiser, BS, PhD, Kristen A Clark, BA, Jane L Sumner, PhD, Gregory M Vercellotti, MD, M.Dawn Nelson, PhD

Blood (2019) 134 (Supplement_1): 3453.

https://doi.org/10.1182/blood-2019-127740

Published: 2019

Journal Articles

The Role of SOD2 in Maintaining Endothelial Cell Function in SCD

Atinuke Dosunmu-Ogunbi, Yingze Zhang, PhD, Seyed Mehdi Nouraie, PhD MD, Adam Straub, PhD

Blood (2019) 134 (Supplement_1): 3563.

https://doi.org/10.1182/blood-2019-131238

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

Journal Articles

ASXL1 Mutations Are Associated with Widespread and Distinct DNA Methylation Alterations

Nora E Rahmani, MD, Nandini Ramachandra, Tushar D Bhagat, PhD, Shanisha Gordon, Kith Pradhan, PhD, Bianca Rivera Pena, Mohammad Kazemi, Orsi Giricz, PhD, Shahina Maqbool, Raul Olea, Hamid Dolatshad, Vickram Tittrea, Dharamveer Tatwavedi, Shalini Singh, Andrea Pellagatti, Jacqueline Boultwood, Amit Verma, MBBS

Blood (2019) 134 (Supplement_1): 2989.

https://doi.org/10.1182/blood-2019-126850

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

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

Animal Models Demonstrate a Critical Role of Factor VIII in Par4- and Platelet-Mediated Pathology

Michelle Castillo, BS, Quihui Yang, MD PhD, Dosia McKinney, Qizhen Shi, MD PhD, Rashmi Sood, PhD

Blood (2019) 134 (Supplement_1): 1057.

https://doi.org/10.1182/blood-2019-123290

Published: 2019

Journal Articles

Disease Phenotype and Clonal Amplification in Calreticulin del52 and ins5 Knock-in Mice Are Dependent on the Type of Mutations and Gene Dosage

Camélia Benlabiod, Maira da Costa Cacemiro, PhD, Thomas Balligand, MD, Barbara Panneau-Schmaltz, PhD, Delphine Muller, Laure Touchard, Patrick Gonin, DVM, Jean-Luc Villeval, PhD, Stefan N Constantinescu, MD PhD, Hana Raslova, PhD, William Vainchenker, MD PhD, Isabelle Plo, Caroline Marty, PhD

Blood (2019) 134 (Supplement_1): 311.

https://doi.org/10.1182/blood-2019-127918

Published: 2019

Journal Articles

The Condensin II Subunit, NcapH2, Is Required for Proper Embryonic Erythroid Terminal Maturation and Embryonic Viability in a Primary Mouse Model

Zachary C. Murphy, PhD, Michael Getman, MS, Laurie A. Steiner, MD

Blood (2019) 134 (Supplement_1): 153.

https://doi.org/10.1182/blood-2019-127353

Published: 2019

Journal Articles

In Vivo reconstruction of Human Erythropoiesis with Circulating Mature Human RBCs in Humanized Liver Mistrg Mice

Yuanbin Song, MD, Liang Shan, PhD, Rana Gbyli, MS, Wei Liu, PhD, Xiaoying Fu, MD, Xiaman Wang, MD PhD, Ashley Qin, Amisha Patel, MS, Yimeng Gao, PhD, Toma Tebaldi, PhD, Giulia Biancon, PhD, David Urbonas, Jonathan Alderman, PhD, Stephanie Halene, MD, Richard Flavell, PhD

Blood (2019) 134 (Supplement_1): 338.

https://doi.org/10.1182/blood-2019-130701

Published: 2019

Journal Articles

Whole-Genome CRISPR Screen Reveals the Mechanism of Relapse in Patient-Derived Cells Representing High-Risk Paediatric ALL

Katarzyna Szoltysek, PhD, Helen Blair, Sirintra Nakjang, Ricky Tirtakusuma, Mankaran Singh, Ryan Nelson, Hesta McNeill, Catherine Dodd, Melanie Beckett, Lynsey McKenzie, Edward Law, Josef Vormoor, MD PhD, Deepali Pal, Olaf Heidenreich

Blood (2019) 134 (Supplement_1): 3952.

https://doi.org/10.1182/blood-2019-124818

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

Novel Pathogenic Genes and Rare Mutations of Congenital Factor V Deficiency: A Case Report

Haixia Guo, MD PhD

Blood (2019) 134 (Supplement_1): 4920.

https://doi.org/10.1182/blood-2019-126350

Published: 2019

NARROW

A homozygous deletion in the SLC19 A1 gene as a cause of folate-dependent recurrent megaloblastic anemia

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

Identification of a Spontaneous Noncoding Mutation on Chromosome 18 Which Suppresses Thrombosis in Factor V Leiden Homozygous, TFPI Deficient Mice

Homozygosity for -2518 G Allele Variant of MCP-1 Predisposes to Adverse Presentation and Outcome in Primary Myelofibrosis

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

Evaluating the Volumetric Liver Fat Fraction in Patients Referred for Investigation of Hyperferritinemia

Association between Sensorineural Hearing Loss and Homozygous Sickle Cell Anemia: A Meta-Analysis

The Role of SOD2 in Maintaining Endothelial Cell Function in SCD

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

ASXL1 Mutations Are Associated with Widespread and Distinct DNA Methylation Alterations

Computational Analysis Model Applied to Spanish Gaucher Registry Data

Loss-of-Function and Gain-of-Function Consequences of GATA2 Disease Mutations

Animal Models Demonstrate a Critical Role of Factor VIII in Par4- and Platelet-Mediated Pathology

Disease Phenotype and Clonal Amplification in Calreticulin del52 and ins5 Knock-in Mice Are Dependent on the Type of Mutations and Gene Dosage

The Condensin II Subunit, NcapH2, Is Required for Proper Embryonic Erythroid Terminal Maturation and Embryonic Viability in a Primary Mouse Model

In Vivo reconstruction of Human Erythropoiesis with Circulating Mature Human RBCs in Humanized Liver Mistrg Mice

Whole-Genome CRISPR Screen Reveals the Mechanism of Relapse in Patient-Derived Cells Representing High-Risk Paediatric ALL

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

Novel Pathogenic Genes and Rare Mutations of Congenital Factor V Deficiency: A Case Report

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American Society of Hematology

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American Society of Hematology

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