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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

Journal Articles

Leukemogenic Functions of Mutant ASXL1 Are Regulated By CDK-Mediated Phosphorylation

Shuhei Asada, MD PhD, Susumu Goyama, MD PhD, Reina Takeda, MD, Keita Yamamoto, MD, Hiroko Kozuka-Hata, PhD, Masaaki Oyama, PhD, Daichi Inoue, MD PhD, Hiroaki Honda, MD PhD, Toshio Kitamura, MD PhD

Blood (2019) 134 (Supplement_1): 731.

https://doi.org/10.1182/blood-2019-125959

Published: 2019

Journal Articles

Incidence of Germline ATM Variants in a Consecutive Clinical Cohort of CLL Patients

Benjamin L. Lampson, MD PhD, Svitlana Tyekucheva, PhD, Conner J. Shaughnessy, Annette S. Kim, MD PhD, Jennifer R. Brown, MD PhD

Blood (2019) 134 (Supplement_1): 1731.

https://doi.org/10.1182/blood-2019-127180

Published: 2019

Journal Articles

Compound Heterozygous Nonsense Mutations Leading to Hereditary Deficiency of Coagulation Factor XI in a Chinese Pedigree

Qian Li, Hui Zeng, Yong Xu, Min Zhou, Bing Chen, Rong-Fu Zhou, PhD MD

Blood (2018) 132 (Supplement 1): 5032.

https://doi.org/10.1182/blood-2018-99-118105

Published: 2018

Journal Articles

Analysis of Even a Limited Number of Genes Indicates a Strong Inherited Component in Otherwise Typical Sporadic MDS

Cassandra M. Hirsch, Wenyi Shen, MD, Bartlomiej P. Przychodzen, Yasunobu Nagata, Vera Adema, PhD, Teodora Kuzmanovic, BA, Louis Williams, MD MBA, Aziz Nazha, Valeria Visconte, PhD, Hetty E. Carraway, MD MBA, Mikkael A. Sekeres, MD MS, Jaroslaw P. Maciejewski

Blood (2018) 132 (Supplement 1): 3074.

https://doi.org/10.1182/blood-2018-99-116535

Published: 2018

Journal Articles

Two Novel Compound Heterozygous Pathogenic Variants in P2YR12 gene

Arnaud Dupuis, PhD, Doris Böckelmann, PhD, Patricia Laeuffer, Katharina Neubauer, PhD, Christian Gachet, MD PhD, Barbara Zieger

Blood (2018) 132 (Supplement 1): 1154.

https://doi.org/10.1182/blood-2018-99-112833

Published: 2018

Journal Articles

Necessity of Smc3 in Embryonic and Adult Hematopoiesis with an Emphasis on Myeloid Compartment

Tianjiao Wang, John S. Welch, MD PhD

Blood (2017) 130 (Supplement 1): 470.

https://doi.org/10.1182/blood.V130.Suppl_1.470.470

Published: 2017

Journal Articles

PPM1D Mutations in MDS Patients with Deletion of Chromosome 5q

Blood (2017) 130 (Supplement 1): 4275.

https://doi.org/10.1182/blood.V130.Suppl_1.4275.4275

Published: 2017

Journal Articles

Neurofibromin 1 gene Mutations Are Recurrent Events in Adult Patients with Acute Myeloid Leukemia (AML), Associate with Poor Outcome and Refine the Adverse European Leukemianet (ELN) Risk Category

Ann-Kathrin Eisfeld, MD, Jessica Kohlschmidt, PhD, Krzysztof Mrózek, MDPhD, Alice S. Mims, MD MSCR, Christopher J. Walker, PhD, James S. Blachly, MD, Deedra Nicolet, MS, Shelley Orwick, BS, Sofia E. Maharry, Andrew Carroll, PhD, Bayard L. Powell, MD, Jonathan E. Kolitz, MD, Eunice S. Wang, MD, Richard M. Stone, MD, Albert de la Chapelle, MD PhD, John C. Byrd, MD, Clara D. Bloomfield, MD

Blood (2017) 130 (Supplement 1): 186.

https://doi.org/10.1182/blood.V130.Suppl_1.186.186

Published: 2017

Journal Articles

Comparison of Genetic Profiling of Primary Central Nervous System (CNS) Lymphoma before and after Extra-CNS Relapse

Kosuke Toyoda, MD, Junko Nomoto, MD PhD, Yasuji Miyakita, MD, Yoshitaka Narita, MD PhD, Akiko Miyagi Maeshima, MD PhD, Nobuhiko Yamauchi, MD, Suguru Fukuhara, MD, Wataru Munakata, MD PhD, Dai Maruyama, MD PhD, Kensei Tobinai, MD PhD, Yukio Kobayashi, MD PhD

Blood (2017) 130 (Supplement 1): 5135.

https://doi.org/10.1182/blood.V130.Suppl_1.5135.5135

Published: 2017

Journal Articles

Development of RUNX1-Independent Hematopoiesis in Three Zebrafish runx1 -KO Models

Erica Bresciani, PhD, Blake Carrington, Erika Mijin Kwon, PhD, Marypat Jones, Kevin Bishop, Elizabeth Broadbridge, Stefania Dell'Orso, Raman B. Sood, PhD, Paul P Liu, MD

Blood (2017) 130 (Supplement 1): 2422.

https://doi.org/10.1182/blood.V130.Suppl_1.2422.2422

Published: 2017

Journal Articles

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations

Alessio Branchini, Mattia Ferrarese, Matteo Campioni, Giancarlo Castaman, Rosella Mari, Francesco Bernardi, Mirko Pinotti

Blood (2017) 129 (16): 2303–2307.

https://doi.org/10.1182/blood-2016-09-738641

Published: 2017

Journal Articles

DNAJC21 : the new kid on the SDS block

Lucy A. Godley

Blood (2017) 129 (11): 1413–1414.

https://doi.org/10.1182/blood-2017-01-761635

Published: 2017

Journal Articles

PHF6 Somatic Mutations and Their Functional Role in the Pathophysiology of Myelodysplastic Syndromes (MDS) and Acute Myeloid Leukemia (AML)

Bartlomiej P Przychodzen, MSc, Xiaorong Gu, PhD, Dewen You, PhD, Cassandra M. Hirsch, BSc, Michael J. Clemente, M.S., Mikkael A. Sekeres, MD MS, Aziz Nazha, MD, Hideki Makishima, MD PhD FACP., Jaroslaw P Maciejewski, MD PhD FACP

Blood (2016) 128 (22): 2736.

https://doi.org/10.1182/blood.V128.22.2736.2736

Published: 2016

Journal Articles

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

Demirel Mehmet, Sule Unal, Fatma Gumruk, Nurten Ayse Akarsu

Blood (2016) 128 (22): 5073.

https://doi.org/10.1182/blood.V128.22.5073.5073

Published: 2016

Journal Articles

PHF6 - Somatic Mutations and Their Role in Pathophysiology of MDS and AML

Bartlomiej Przychodzen, MSc, Xiaorong Gu, PhD, Dewen You, PhD, Cassandra M. Hirsch, Michael J. Clemente, Aaron D. Viny, MD MS, Ross L. Levine, MD, Torsten Haferlach, Manja Maggendorfer, Mikkael A. Sekeres, MD MS, Hetty E. Carraway, MD MBA, Aziz Nazha, MD, Francis Enane, Jaroslaw P. Maciejewski, MD PhD

Blood (2015) 126 (23): 1259.

https://doi.org/10.1182/blood.V126.23.1259.1259

Published: 2015

Journal Articles

Development of Multi-Lineage Hematopoiesis in Two Novel Zebrafish runx1 mutants

Erica Bresciani, PhD, Blake Carrington, Erika Mijin Kwon, PhD, Marypat Jones, Stephen Wincovitch, Raman B. Sood, PhD, Paul P. Liu, MD PhD

Blood (2015) 126 (23): 2373.

https://doi.org/10.1182/blood.V126.23.2373.2373

Published: 2015

Journal Articles

Molecular Genetics Analysis of Von Williebrand Disease: Studies in Cohort Pakistani Patients

Shariq Ahmed, BS, Arshi Naz, MSc.PhD, Hamideh Yadegari, Julia Driesen, Tahir Shamsi, MBBS, MRCPath,FRCPath, Nisar Ahmed, FCPS haematology, Shahla Tariq, M.B;B.S, Samina Tufail Amanat, FCPS, MB, BS, fazal-E- Razik, Mohammad Nadeem, M.B;B.D, FCPS, Johannes Oldenburg

Blood (2015) 126 (23): 4689.

https://doi.org/10.1182/blood.V126.23.4689.4689

Published: 2015

Journal Articles

Domain Distribution of Type 1 VWD Sequence Variants and Impact on Clinical and Laboratory Phenotype in the Zimmerman Program

Pamela A Christopherson, Veronica H Flood, MD, Sandra L Haberichter, PhD, Daniel B Bellissimo, PhD, Kenneth D Friedman, MD, Joan Cox Gill, MD, Rupa A Udani, PhD, Robert R Montgomery, MD

Blood (2015) 126 (23): 758.

https://doi.org/10.1182/blood.V126.23.758.758

Published: 2015

Journal Articles

A New Approach to Identify Pathogenic Mutations and Inherited Variants By Exome Sequencing – Using a Pair of Identical Twins with Monoclonal Lymphosis As Case Model

Marcus Celik Hansen, MSc in Biomedical Engineering, Charlotte Guldborg Nyvold, MSc, PhD, Anne Stidsholt Roug, MD PhD, Line Nederby, MSc, PhD, Peter Hokland, MD DMSc

Blood (2014) 124 (21): 1979.

https://doi.org/10.1182/blood.V124.21.1979.1979

Published: 2014

NARROW

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

Leukemogenic Functions of Mutant ASXL1 Are Regulated By CDK-Mediated Phosphorylation

Incidence of Germline ATM Variants in a Consecutive Clinical Cohort of CLL Patients

Compound Heterozygous Nonsense Mutations Leading to Hereditary Deficiency of Coagulation Factor XI in a Chinese Pedigree

Analysis of Even a Limited Number of Genes Indicates a Strong Inherited Component in Otherwise Typical Sporadic MDS

Two Novel Compound Heterozygous Pathogenic Variants in P2YR12 gene

Necessity of Smc3 in Embryonic and Adult Hematopoiesis with an Emphasis on Myeloid Compartment

PPM1D Mutations in MDS Patients with Deletion of Chromosome 5q

Neurofibromin 1 gene Mutations Are Recurrent Events in Adult Patients with Acute Myeloid Leukemia (AML), Associate with Poor Outcome and Refine the Adverse European Leukemianet (ELN) Risk Category

Comparison of Genetic Profiling of Primary Central Nervous System (CNS) Lymphoma before and after Extra-CNS Relapse

Development of RUNX1-Independent Hematopoiesis in Three Zebrafish runx1 -KO Models

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations

DNAJC21 : the new kid on the SDS block

PHF6 Somatic Mutations and Their Functional Role in the Pathophysiology of Myelodysplastic Syndromes (MDS) and Acute Myeloid Leukemia (AML)

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

PHF6 - Somatic Mutations and Their Role in Pathophysiology of MDS and AML

Development of Multi-Lineage Hematopoiesis in Two Novel Zebrafish runx1 mutants

Molecular Genetics Analysis of Von Williebrand Disease: Studies in Cohort Pakistani Patients

Domain Distribution of Type 1 VWD Sequence Variants and Impact on Clinical and Laboratory Phenotype in the Zimmerman Program

A New Approach to Identify Pathogenic Mutations and Inherited Variants By Exome Sequencing – Using a Pair of Identical Twins with Monoclonal Lymphosis As Case Model

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American Society of Hematology

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American Society of Hematology

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