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Journal Articles

Genotype-Phenotype Correlations in Patients with Severe Chronic Neutropenia Harboring ELANE Mutations: A Long-Term Study of the Severe Chronic Neutropenia International Registry

Ivan Tesakov, Vahagn Makaryan, Audrey Anna Bolyard, Maksim Klimiankou, Yasmine El Chazli, Khoshoua Mohamed, Sabine Mellor-Heineke, Stefanida Shliaga, Akiko Shimamura, Peter E. Newburger, Julia Skokowa, Karl Welte, David C. Dale, Cornelia Zeidler

Blood (2024) 144 (Supplement 1): 2530.

https://doi.org/10.1182/blood-2024-210153

Published: 2024

Journal Articles

Deciphering Genotype-Phenotype Correlations and the Mechanism of the Action of Neutrophil Elastase Inhibitors during ELANE Associated Neutropenia Utilizing Molecular Modeling Software

Gobind S Chugh, Vahagn Makaryan, Merideth Kelley, David C. Dale

Blood (2024) 144 (Supplement 1): 3905.

https://doi.org/10.1182/blood-2024-203957

Published: 2024

Journal Articles

Modeling TCIRG1 Neutropenia By Utilizing Patient Derived Induced Pluripotent Stem Cells

Vahagn Makaryan, Merideth Kelley, Audrey Anna Bolyard, David C. Dale

Blood (2023) 142 (Supplement 1): 933.

https://doi.org/10.1182/blood-2023-173400

Published: 2023

Journal Articles

The Morphologic Spectrum of Myelokathexis in WHIM Syndrome and Germline CXCR4 Variants: New Insights into Cellular Changes in the Bone Marrow and Peripheral Blood

Blood (2022) 140 (Supplement 1): 5487–5489.

https://doi.org/10.1182/blood-2022-155692

Published: 2022

Journal Articles

Accumulation of Specific Somatic Leukemia-Associated Mutations in Congenital Neutropenia Precedes Malignant Transformation - New Preconditions for Treatment Decisions

Maksim Klimiankou, Sergey Kandabarau, Cornelia Zeidler, Ingeborg Steiert, Denys Pogozhykh, David C. Dale, Karl Welte, Julia Skokowa

Blood (2022) 140 (Supplement 1): 994–995.

https://doi.org/10.1182/blood-2022-158914

Published: 2022

Journal Articles

The Effect of Neutrophil Elastase Inhibitors on in-Vitro Myeloid Differentiation of CD34+ Cells of Patients with ELANE Associated Neutropenia

Vahagn Makaryan, Merideth L. Kelley, David C. Dale

Blood (2022) 140 (Supplement 1): 2617.

https://doi.org/10.1182/blood-2022-159206

Published: 2022

Journal Articles

Novel TCIRG1 Mutations Causing Congenital Neutropenia

Vahagn Makaryan, Merideth L. Kelley, Audrey Anna Bolyard, Hsiu-Ju Yen, David C. Dale

Blood (2022) 140 (Supplement 1): 8334–8335.

https://doi.org/10.1182/blood-2022-159214

Published: 2022

Journal Articles

Mavorixafor for Patients with Chronic Neutropenic Disorders: Results from a Phase 1b, Open-Label, Multicenter Study

Julia T. Warren, Kelly J. Walkovich, Audrey Anna Bolyard, Kathryn E. Dickerson, Jolan E. Walter, Diego Cadavid, Eloisa Chapa, Kelly Chen, Richard MacLeod, Katie Peters, Richard Polisson, David C. Dale

Blood (2022) 140 (Supplement 1): 1408–1410.

https://doi.org/10.1182/blood-2022-156216

Published: 2022

Journal Articles

Heterozygous variants of CLPB are a cause of severe congenital neutropenia

Julia T. Warren, Ryan R. Cupo, Peeradol Wattanasirakul, David H. Spencer, Adam E. Locke, Vahagn Makaryan, Audrey Anna Bolyard, Merideth L. Kelley, Natalie L. Kingston, James Shorter, Christine Bellanné-Chantelot, Jean Donadieu, David C. Dale, Daniel C. Link

Blood (2022) 139 (5): 779–791.

https://doi.org/10.1182/blood.2021010762

Published: 2022

Includes: Supplemental data

Journal Articles

Global Phase 3, Randomized, Placebo-Controlled Trial with Open-Label Extension Evaluating the Oral CXCR4 Antagonist Mavorixafor in Patients with WHIM Syndrome (4WHIM): Trial Design and Enrollment

Blood (2021) 138 (Supplement 1): 4310.

https://doi.org/10.1182/blood-2021-153346

Published: 2021

Journal Articles

Safe and Efficient Engraftment of CRISPR-Based ELANE Mono-Allelic Knocked out HSCs in Mice: Evidence for a Novel Treatment for ELANE Neutropenia

Lital Povodovski, Vahagn Makaryan, Peter Sabo, Yosef Dicken, Asael Herman, Rafi Emmanuel, David C. Dale

Blood (2021) 138 (Supplement 1): 3122.

https://doi.org/10.1182/blood-2021-149249

Published: 2021

Journal Articles

The Experience of the Cooperation in Science and Technology European Network for Innovative Diagnosis and Treatment of Chronic Neutropenias (COST EuNet-INNOCHRON) Action and the Sweden Experience in the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Era

Michail Spanoudakis, David C. Dale, Emily Tran, Marije Bartels, Suncica Kapor, Daniela Guardo, Jelena Roganovic, Joanne Yacobovich, Christer Nilsson, Carlo Dufour, Helen A. Papadaki, Jan Palmblad

Blood (2021) 138 (Supplement 1): 3125.

https://doi.org/10.1182/blood-2021-150486

Published: 2021

Journal Articles

Mavorixafor, an Oral CXCR4 Antagonist, for Treatment of Patients with WHIM Syndrome: Results from the Long-Term Extension of the Open-Label Phase 2 Study

David C. Dale, Frank Caleb Firkin, Audrey Anna Bolyard, Weihua Tang, Honghua Jiang, Richard MacLeod, Diego Cadavid, Yanping Hu

Blood (2021) 138 (Supplement 1): 1121.

https://doi.org/10.1182/blood-2021-145759

Published: 2021

Journal Articles

Spectrum of Pathogenic Genetic Variants in a Large Cohort of North American Congenital and Cyclic Neutropenia Patients: A Report from the Severe Chronic Neutropenia International Registry

Julia T Warren, Audrey Anna Bolyard, Merideth L. Kelley, Vahagn Makaryan, David C. Dale, Daniel C. Link

Blood (2021) 138 (Supplement 1): 2059.

https://doi.org/10.1182/blood-2021-153783

Published: 2021

Journal Articles

Oral Administration of Mavorixafor, a CXCR4 Antagonist, Increases Peripheral White Blood Cell Counts across Different Disease States

David C. Dale, Steven P. Treon, David F. McDermott, Diego Cadavid, Xia Luo, Varun Garg, Weihua Tang, Honghua Jiang, Kelly Chen, Arthur G. Taveras, Ashish Bhandari, Jean Donadieu

Blood (2021) 138 (Supplement 1): 2186.

https://doi.org/10.1182/blood-2021-152990

Published: 2021

Journal Articles

Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome

David C. Dale, Frank Firkin, Audrey Anna Bolyard, Merideth Kelley, Vahagn Makaryan, Kenneth J. Gorelick, Tarek Ebrahim, Varun Garg, Weihua Tang, Honghua Jiang, Renato Skerlj, Sarah Beaussant Cohen

Blood (2020) 136 (26): 2994–3003.

https://doi.org/10.1182/blood.2020007197

Published: 2020

Includes: Supplemental data

Journal Articles

CRISPR Mediated ELANE Single-Allele Knock-out Restores Proliferation and Myeloid Differentiation of Neutropenia Patient Derived BM HSCs

Peter Sabo, Vahagn Makaryan, MD, Tanoya Poulsen, Lital Povodovski, Yosef Dicken, Asael Herman, PhD, Rafi Emmanuel, David C. Dale, MD

Blood (2020) 136 (Supplement 1): 23.

https://doi.org/10.1182/blood-2020-137215

Published: 2020

Journal Articles

Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

Alyssa L. Kennedy, MDPhD, Kasiani C. Myers, MD, James Bowman, PhD, Christopher J. Gibson, MD, Gwen M. Muscato, Robert Klein, Kaitlyn Ballotti, Nicholas Camarda, Elissa M. Furutani, MD, Chad E. Harris, MS, Shanshan Liu, PhD, Ashley Galvin, Maggie Malsch, MSN, RN, David C. Dale, MD, John M Gansner, MD PhD, Taizo A. Nakano, MD, Alison A. Bertuch, MD, Adrianna Vlachos, MD, Jeff H. Lipton, MD PhD, Paul Castillo, MD, James Connelly, John Edwards, MD, Nobuko Hijiya, MD, Richard Ho, MD, Inga Hofmann, MD, James N Huang, MD, Sioban B. Keel, MD, Adam J. Lamble, MD, Bonnie W Lau, MD PhD, Kelly J. Walkovich, MD, Maxim Norkin, MD, Wendy Stock, MD, Steffen Boettcher, Christian Brendel, PhD, Elliot Stieglitz, MD, Mark D. Fleming, MD DPhil, Stella M. Davies, PhD MBBS, MRCP, Edie A. Weller, Chris Bahl, PhD, Scott L. Carter, PhD, Akiko Shimamura, MD PhD, R. Coleman Lindsley, MD PhD

Blood (2020) 136 (Supplement 1): 35–36.

https://doi.org/10.1182/blood-2020-137125

Published: 2020

Journal Articles

Severe Chronic Neutropenia in the Large Granular Lymphocyte Syndrome: Outcomes in Response to Granulocyte Colony Stimulating Factor (G-CSF) and Immunosuppressive Therapies

David C. Dale, MD, James A. Shannon, IV, Audrey Anna Bolyard, RN, BS, Jim Connelly, MD, Daniel C. Link, MD, Mary Ann Bonilla, MD, Peter E. Newburger, MD

Blood (2019) 134 (Supplement_1): 3589.

https://doi.org/10.1182/blood-2019-126181

Published: 2019

Journal Articles

Heterozygous Mutations of Clpb As a Newly Identified and Frequent Cause of Severe Congenital Neutropenia

Julia T Warren, MD PhD, Peeradol Wattanasirakul, David H Spencer, MD, Adam Locke, PhD, Vahagn Makaryan, MD, Audrey Anna Bolyard, RN, BS, Karl Welte, Julia Skokowa, MD PhD, David C. Dale, MD, Daniel C. Link, MD

Blood (2019) 134 (Supplement_1): 433.

https://doi.org/10.1182/blood-2019-129635

Published: 2019

NARROW

Genotype-Phenotype Correlations in Patients with Severe Chronic Neutropenia Harboring ELANE Mutations: A Long-Term Study of the Severe Chronic Neutropenia International Registry

Deciphering Genotype-Phenotype Correlations and the Mechanism of the Action of Neutrophil Elastase Inhibitors during ELANE Associated Neutropenia Utilizing Molecular Modeling Software

Modeling TCIRG1 Neutropenia By Utilizing Patient Derived Induced Pluripotent Stem Cells

The Morphologic Spectrum of Myelokathexis in WHIM Syndrome and Germline CXCR4 Variants: New Insights into Cellular Changes in the Bone Marrow and Peripheral Blood

Accumulation of Specific Somatic Leukemia-Associated Mutations in Congenital Neutropenia Precedes Malignant Transformation - New Preconditions for Treatment Decisions

The Effect of Neutrophil Elastase Inhibitors on in-Vitro Myeloid Differentiation of CD34+ Cells of Patients with ELANE Associated Neutropenia

Novel TCIRG1 Mutations Causing Congenital Neutropenia

Mavorixafor for Patients with Chronic Neutropenic Disorders: Results from a Phase 1b, Open-Label, Multicenter Study

Heterozygous variants of CLPB are a cause of severe congenital neutropenia

Global Phase 3, Randomized, Placebo-Controlled Trial with Open-Label Extension Evaluating the Oral CXCR4 Antagonist Mavorixafor in Patients with WHIM Syndrome (4WHIM): Trial Design and Enrollment

Safe and Efficient Engraftment of CRISPR-Based ELANE Mono-Allelic Knocked out HSCs in Mice: Evidence for a Novel Treatment for ELANE Neutropenia

The Experience of the Cooperation in Science and Technology European Network for Innovative Diagnosis and Treatment of Chronic Neutropenias (COST EuNet-INNOCHRON) Action and the Sweden Experience in the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Era

Mavorixafor, an Oral CXCR4 Antagonist, for Treatment of Patients with WHIM Syndrome: Results from the Long-Term Extension of the Open-Label Phase 2 Study

Spectrum of Pathogenic Genetic Variants in a Large Cohort of North American Congenital and Cyclic Neutropenia Patients: A Report from the Severe Chronic Neutropenia International Registry

Oral Administration of Mavorixafor, a CXCR4 Antagonist, Increases Peripheral White Blood Cell Counts across Different Disease States

Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome

CRISPR Mediated ELANE Single-Allele Knock-out Restores Proliferation and Myeloid Differentiation of Neutropenia Patient Derived BM HSCs

Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

Severe Chronic Neutropenia in the Large Granular Lymphocyte Syndrome: Outcomes in Response to Granulocyte Colony Stimulating Factor (G-CSF) and Immunosuppressive Therapies

Heterozygous Mutations of Clpb As a Newly Identified and Frequent Cause of Severe Congenital Neutropenia

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American Society of Hematology

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ASH Publications

American Society of Hematology

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