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Journal Articles

FA Gene Carrier Status Predisposes to Myeloid Neoplasms and Bone Marrow Failure in Adults

Jibran Durrani, Hassan Awada, MD, Wenyi Shen, MD, Cassandra M Kerr, MS, Vera Adema, PhD, Sunisa Kongkiatkamon, Ashwin Kishtagari, MBBS, Samuel Li, Yasunobu Nagata, MD PhD, Sanghee Hong, MD, Aziz Nazha, MD, Bhumika J. Patel, MD, Yogenthiran Saunthararajah, MD, Hetty E. Carraway, MD MBA, Valeria Visconte, PhD, Seth J. Corey, MD, Mikkael A. Sekeres, MD MS, Thomas Laframboise, PhD, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 452.

https://doi.org/10.1182/blood-2019-130142

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

Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML

Alison E Meyer, PhD, Cary Stelloh, Joseph B Fisher, PhD, Kirthi Pulakanti, George S. Vassiliou, FRCPath, MRCP, PhD, Aaron D Viny, MDMS, Ross L. Levine, MD, Sridhar Rao, MD PhD

Blood (2019) 134 (Supplement_1): 2515.

https://doi.org/10.1182/blood-2019-126042

Published: 2019

Journal Articles

Prevalence of Red Cell Pyruvate Kinase Deficiency: A Systematic Literature Review

Mike Storm, MSc, Matthew H Secrest, MSc, Courtney Carrington, MPH, Keely Gilroy, PhD, Leanne Pladson, RN BS, Audra N. Boscoe, PhD, Deborah Casso, MPH

Blood (2019) 134 (Supplement_1): 3513.

https://doi.org/10.1182/blood-2019-124381

Published: 2019

Journal Articles

Genetic defects in hematopoietic transcription factors and predisposition to acute lymphoblastic leukemia

Yoshihiro Gocho, Jun J. Yang

Blood (2019) 134 (10): 793–797.

https://doi.org/10.1182/blood.2018852400

Published: 2019

Journal Articles

Heterozygous CTC1 Variants in Acquired Bone Marrow Failure

Wenyi Shen, MD, Cassandra M. Hirsch, Bartlomiej P. Przychodzen, Reda Z. Mahfouz, MD PhD, Tomas Radivoyevitch, Louis Williams, MD MBA, Mohammad Fahad B. Asad, Jaroslaw P. Maciejewski

Blood (2018) 132 (Supplement 1): 3866.

https://doi.org/10.1182/blood-2018-99-115193

Published: 2018

Journal Articles

Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML

Alison E Meyer, PhD, Cary Stelloh, Joseph B Fisher, PhD, Kirthi Pulakanti, George S. Vassiliou, Aaron D Viny, MD MS, Ross L. Levine, MD, Sridhar Rao, MD PhD

Blood (2018) 132 (Supplement 1): 2598.

https://doi.org/10.1182/blood-2018-99-113011

Published: 2018

Journal Articles

FAS-Mediated Apoptosis Assay in Patients with ALPS-like Phenotype Carrying CASP10 Mutations

Maurizio Miano, MD, Enrico Cappelli, Agnese Pezzulla, Roberta Venè, Elena Palmisani, Alice Grossi, Paola Terranova, Tiziana Lanza, Rosario Maggiore, Filomena Pierri, Concetta Micalizzi, MD, Michaela Calvillo, Isabella Ceccherini, Giovanna Russo, MD, Carlo Dufour, MD, Francesca Fioredda, PhD

Blood (2018) 132 (Supplement 1): 4960.

https://doi.org/10.1182/blood-2018-99-118180

Published: 2018

Journal Articles

Endothelial Colony Forming Cells from Individuals with Low VWF Levels Demonstrate Impairment in Stimulated VWF Release

Christopher J. Ng, MD, Katrina J. Ashworth, MS, Marilyn J Manco-Johnson, MD, Christopher Baker, MD, Jorge Di Paola, MD

Blood (2017) 130 (Supplement 1): 21.

https://doi.org/10.1182/blood.V130.Suppl_1.21.21

Published: 2017

Journal Articles

Heterogeneous Landscape of RUNX1 Related Disorder: Four Families with Inherited Thrombocytopenias and Novel Genetic Variants in RUNX1 Associated to Relevant Clinical Complications

Jose Maria Bastida, MDPhD, Rocio Benito, Jesus M Hernández-Sánchez, Maria L Lozano, Kamila Janusz, Eva Lumbreras, Alvaro Lassaletta, Susana Riesco, Jorge Huerta, Veronica Palma-Barqueros, Ana Hortal, Maria Díez-Campelo, Maria Isabel Prieto-Conde, Maria Carmen Chillon, Consuelo Del Cañizo, MDPhD, Jesús M Hernández-Rivas, MD PhD, Jose Rivera, Jose Ramon González-Porras, MDPhD

Blood (2017) 130 (Supplement 1): 3647.

https://doi.org/10.1182/blood.V130.Suppl_1.3647.3647

Published: 2017

Journal Articles

A Role for the CRM1 Nuclear Export Receptor in HOXA Gene Deregulation and CALM-AF10 Leukemogenesis

Waitman K. Aumann, MD, Jessica L. Heath, MD, Sei-Gyung K. Sze, MD, Amanda E. Conway, PhD, Catherine P. Lavau, DVM, PhD, Daniel S. Wechsler, MD PhD

Blood (2017) 130 (Supplement 1): 369.

https://doi.org/10.1182/blood.V130.Suppl_1.369.369

Published: 2017

Journal Articles

Primary Antibody Deficiencies: Scientific Discoveries Leading to Challenging Paradigms in a Complex Disease Landscape

Anne Durandy, MD PhD, Sven Kracker, PhD, Marina Cavazzana, MD PhD

Blood (2017) 130 (Supplement 1): SCI-28.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-28.SCI-28

Published: 2017

Journal Articles

Constitutional SAMD9L Mutations Cause Familial Myelodisplastic Syndrome with Monosomy 7 and Stable Revertant Mosaicism

Blood (2017) 130 (Supplement 1): 1672.

https://doi.org/10.1182/blood.V130.Suppl_1.1672.1672

Published: 2017

Journal Articles

The Role of Gata2 in Murine Models of Acute Myeloid Leukemia

Taylor Yamauchi, B.A., Etienne Danis, PhD, Xi Zhang, B.A., Simone Riedel, PhD, Hua Huang, MD, PhD, Kathrin M Bernt, MD, Tobias Neff, MD

Blood (2016) 128 (22): 1516.

https://doi.org/10.1182/blood.V128.22.1516.1516

Published: 2016

Journal Articles

Biallelic Mutations in Hamp in Type 2b Hemochromatosis

Serge Pissard, MDPhD, Ka Chandran, Florence Houriez, Ichrache Benmaad, Martial Saunier, Thibault Lefebvre, Patricia Aguilar-Martinez, MD PhD, Patricia A. Bignell, Gerald Le Gac, MDPhD, Jacques Rochette, MB, DSc

Blood (2016) 128 (22): 1279.

https://doi.org/10.1182/blood.V128.22.1279.1279

Published: 2016

Journal Articles

Identifying Possible Candidate Factors Influencing the Penetrance of Heterozygous NFKB1 Loss of Function Mutations By Whole Exome Sequencing

Cyrill Schipp, MSc, Arndt Borkhardt, MD, Polina Stepensky, MD, Ute Fischer, PhD

Blood (2016) 128 (22): 3706.

https://doi.org/10.1182/blood.V128.22.3706.3706

Published: 2016

Journal Articles

Germline Genetic Variation in ETV6 and Predisposition to Childhood Acute Lymphoblastic Leukemia

Blood (2015) 126 (23): 695.

https://doi.org/10.1182/blood.V126.23.695.695

Published: 2015

Journal Articles

Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease

Junmei Chen, Jesse D. Hinckley, Sandra Haberichter, Paula Jacobi, Robert Montgomery, Veronica H. Flood, Randall Wong, Gianluca Interlandi, Dominic W. Chung, José A. López, Jorge Di Paola

Blood (2015) 126 (2): 262–269.

https://doi.org/10.1182/blood-2014-11-613935

Published: 2015

Includes: Supplemental data

Journal Articles

Epigenetic Regulation of Von Willebrand Factor Gene Expression May Contribute to Von Willebrand Disease Severity

Susan A Kuldanek, MD, Sujatha Venkataraman, PhD, Wong Randall, BSc, MBA, Ilango Balakrishnan, PhD, Rajeev Vibhakar, MD PhD, Jorge A Di Paola, MD

Blood (2014) 124 (21): 470.

https://doi.org/10.1182/blood.V124.21.470.470

Published: 2014

Journal Articles

Context Dependent Role of Polycomb Repressive Complex 2 in Acute Leukemia

Etienne Danis, PhD, Taylor Yamauchi, BA, Kristen Echanique, BS, Jessica Haladyna, BA, Huafeng Xie, PhD, Nan Zhu, PhD, Simone Riedel, PhD, Kathrin M Bernt, MD, Stuart H. Orkin, MD, Scott A. Armstrong, MD PhD, Tobias Neff, MD

Blood (2014) 124 (21): 610.

https://doi.org/10.1182/blood.V124.21.610.610

Published: 2014

NARROW

FA Gene Carrier Status Predisposes to Myeloid Neoplasms and Bone Marrow Failure in Adults

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

Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML

Prevalence of Red Cell Pyruvate Kinase Deficiency: A Systematic Literature Review

Genetic defects in hematopoietic transcription factors and predisposition to acute lymphoblastic leukemia

Heterozygous CTC1 Variants in Acquired Bone Marrow Failure

Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML

FAS-Mediated Apoptosis Assay in Patients with ALPS-like Phenotype Carrying CASP10 Mutations

Endothelial Colony Forming Cells from Individuals with Low VWF Levels Demonstrate Impairment in Stimulated VWF Release

Heterogeneous Landscape of RUNX1 Related Disorder: Four Families with Inherited Thrombocytopenias and Novel Genetic Variants in RUNX1 Associated to Relevant Clinical Complications

A Role for the CRM1 Nuclear Export Receptor in HOXA Gene Deregulation and CALM-AF10 Leukemogenesis

Primary Antibody Deficiencies: Scientific Discoveries Leading to Challenging Paradigms in a Complex Disease Landscape

Constitutional SAMD9L Mutations Cause Familial Myelodisplastic Syndrome with Monosomy 7 and Stable Revertant Mosaicism

The Role of Gata2 in Murine Models of Acute Myeloid Leukemia

Biallelic Mutations in Hamp in Type 2b Hemochromatosis

Identifying Possible Candidate Factors Influencing the Penetrance of Heterozygous NFKB1 Loss of Function Mutations By Whole Exome Sequencing

Germline Genetic Variation in ETV6 and Predisposition to Childhood Acute Lymphoblastic Leukemia

Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease

Epigenetic Regulation of Von Willebrand Factor Gene Expression May Contribute to Von Willebrand Disease Severity

Context Dependent Role of Polycomb Repressive Complex 2 in Acute Leukemia

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American Society of Hematology

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American Society of Hematology

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