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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

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

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 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

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

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

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

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

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

Journal Articles

CRISPR/Cas9 Mediated ELANE Knock-out Restores Survival and Granulocytic Differentiation of HL60 Cells Expressing Mutant Neutrophil Elastase: Is Neutrophil Elastase a Dispensible Granulocyte Protease?

Vahagn Makaryan, MD, Isabella N. Archibald, Merideth L. Kelley, MS, Breanna Fletcher, BSc, David C. Dale, MD

Blood (2019) 134 (Supplement_1): 435.

https://doi.org/10.1182/blood-2019-124988

Published: 2019

Journal Articles

Family Studies of Whim Syndrome

David C. Dale, MD, Emily Dick, BA, Merideth L. Kelley, MSc, Vahagn Makaryan, MD, Jim Connelly, MD, Audrey Anna Bolyard, RN, BS

Blood (2019) 134 (Supplement_1): 215.

https://doi.org/10.1182/blood-2019-126234

Published: 2019

Journal Articles

CRISPR/Cas9 Knock-in HL60 Cells Closely Simulate Cellular and Functional Abnormalities of ELANE associated Neutropenia; Phenotype Rescue with MK-0339 Neutrophil Elastase Inhibitor

Vahagn Makaryan, MD, Breanna Fletcher, BSc, Merideth L. Kelley, MSc, Masoud Nasri, Julia Skokowa, MD PhD, Karl Welte, David C Dale, MD

Blood (2018) 132 (Supplement 1): 3683.

https://doi.org/10.1182/blood-2018-99-113054

Published: 2018

Journal Articles

Extended Genetic Testing in Severe Congenital Neutropenia May Identify Mutations That Inform Therapy

Daniel C. Link, MD, Vahagn Makaryan, MD, David H Spencer, MDPhD, Jun Xia, PhD, Audrey Anna Bolyard, RN, BS, David C Dale, MD

Blood (2018) 132 (Supplement 1): 2401.

https://doi.org/10.1182/blood-2018-99-116712

Published: 2018

Journal Articles

Somatic mutations and clonal hematopoiesis in congenital neutropenia

Blood (2018) 131 (4): 408–416.

https://doi.org/10.1182/blood-2017-08-801985

Published: 2018

Includes: Supplemental data

Journal Articles

The Effect of the MK0339 Neutrophil Elastase Inhibitor on Proliferation and Maturation of iPSC Derived from Patients with ELANE, TCIRG1 and Whim Syndrome Associated Neutropenia

Vahagn Makaryan, MD, Breanna Fletcher, BSc, Merideth L. Kelley, MS, David Dale, MD

Blood (2017) 130 (Supplement 1): 545.

https://doi.org/10.1182/blood.V130.Suppl_1.545.545

Published: 2017

Journal Articles

X4P-001: A Novel Molecularly-Targeted Oral Therapy for Whim Syndrome

David Dale, MD, Audrey Anna Bolyard, RN, BS, Emily Dick, BA, Merideth L. Kelley, MS, Vahagn Makaryan, MD, Ramsey Johnson, MSM, Lu Gan, MD PhD, Sudha Parasuraman, MD

Blood (2017) 130 (Supplement 1): 995.

https://doi.org/10.1182/blood.V130.Suppl_1.995.995

Published: 2017

Journal Articles

Termination and Frameshift Mutations in ELANE Are Associated with Adverse Outcomes in Patients with Severe Chronic Neutropenia

David C. Dale, MD, Vahagn Makaryan, MD, Merideth L. Kelley, MS, Audrey Anna Bolyard, RN, BS, Laurence A. Boxer, MD, Peter E. Newburger, MD, Mary Ann Bonilla, MD, Maksim Klimiankou, PhD, Julia Skokowa, MD PhD, Cornelia Zeidler, MD MPH, Karl Welte, MD

Blood (2016) 128 (22): 1326.

https://doi.org/10.1182/blood.V128.22.1326.1326

Published: 2016

Journal Articles

TCIRG1 Mutations As a Cause for Chronic Neutropenia

Vahagn Makaryan, MD, Breanna Fletcher, BSc, Merideth L. Kelley, MS, Audrey Anna Bolyard, RN, BS, Daniel C. Link, MD, Eric J. Duncavage, MD, David Augustus Qualls, MD, David C. Dale, MD

Blood (2016) 128 (22): 2511.

https://doi.org/10.1182/blood.V128.22.2511.2511

Published: 2016

NARROW

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

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

Modeling TCIRG1 Neutropenia By Utilizing Patient Derived Induced Pluripotent Stem Cells

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

Heterozygous variants of CLPB are a cause of severe congenital neutropenia

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

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

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

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

CRISPR/Cas9 Mediated ELANE Knock-out Restores Survival and Granulocytic Differentiation of HL60 Cells Expressing Mutant Neutrophil Elastase: Is Neutrophil Elastase a Dispensible Granulocyte Protease?

Family Studies of Whim Syndrome

CRISPR/Cas9 Knock-in HL60 Cells Closely Simulate Cellular and Functional Abnormalities of ELANE associated Neutropenia; Phenotype Rescue with MK-0339 Neutrophil Elastase Inhibitor

Extended Genetic Testing in Severe Congenital Neutropenia May Identify Mutations That Inform Therapy

Somatic mutations and clonal hematopoiesis in congenital neutropenia

The Effect of the MK0339 Neutrophil Elastase Inhibitor on Proliferation and Maturation of iPSC Derived from Patients with ELANE, TCIRG1 and Whim Syndrome Associated Neutropenia

X4P-001: A Novel Molecularly-Targeted Oral Therapy for Whim Syndrome

Termination and Frameshift Mutations in ELANE Are Associated with Adverse Outcomes in Patients with Severe Chronic Neutropenia

TCIRG1 Mutations As a Cause for Chronic Neutropenia

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American Society of Hematology

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