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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

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

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

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

The Effects of the Neutrophil Elastase Inhibitors MK0339 and Sivelestat on the Survival, Proliferation and Maturation of iPSC and HL60 Cells Expressing Mutant Neutrophil Elastase

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

Blood (2016) 128 (22): 406.

https://doi.org/10.1182/blood.V128.22.406.406

Published: 2016

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

Journal Articles

Long Term Outcomes for Patients with Cyclic Neutropenia Treated with Granulocyte Colony-Stimulating Factor (G-CSF)

David C. Dale, MD, Audrey Anna Bolyard, RN, BS, Merideth L. Kelley, MS, Vahagn Makaryan, MD, Mary Ann Bonilla, MD, Laurence A. Boxer, MD, Sabine Mellor-Heineke, MD, Karl H. Welte, Prof, Dr, MD, Peter E. Newburger, MD, Cornelia Zeidler, MD MPH

Blood (2015) 126 (23): 996.

https://doi.org/10.1182/blood.V126.23.996.996

Published: 2015

Journal Articles

Cooperativity Of RUNX1 and CSF3R Mutations In The Development Of Leukemia In Severe Congenital Neutropenia: A Unique Pathway In Myeloid Leukemogenesis

Blood (2013) 122 (21): 444.

https://doi.org/10.1182/blood.V122.21.444.444

Published: 2013

Journal Articles

TCIRG1 Associated Congenital Neutropenia

Vahagn Makaryan, MD, Elisabeth Rosenthal, PhD, Audrey Anna Bolyard, RN, BS, Merideth L. Kelley, MS, BS, Jennifer Below, PhD, Michael Bamshad, MD, Kathryn M. Bofferding, BS, Joshua D. Smith, Kati Buckingham, BS, Laurence A. Boxer, MD, Julia Skokowa, Karl Welte, Deborah A. Nickerson, PhD, Gail P. Jarvik, MD, PhD, David C. Dale, MD, For the UW Center for Mendelian Genomics

Blood (2013) 122 (21): 440.

https://doi.org/10.1182/blood.V122.21.440.440

Published: 2013

Journal Articles

Clinical Outcomes for Patients with Severe Chronic Neutropenia Due to Mutations in the Gene for Neutrophil Elastase, ELANE

Vahagn Makaryan, MD, Cornelia Zeidler, MD, Audrey Anna Bolyard, RN, BS, Julia Skokowa, MD, PhD, Merideth L. Kelley, BS, Laurence A. Boxer, MD, Mary Ann Bonilla, MD, Peter E. Newburger, MD, Akiko Shimamura, MD, PhD, Karl Welte, MD, David C. Dale, MD, for The Severe Chronic Neutropenia International Registry and Repository

Blood (2012) 120 (21): 3275.

https://doi.org/10.1182/blood.V120.21.3275.3275

Published: 2012

Journal Articles

RUNX1 Mutations Are the Most Frequent Leukemia Associated Mutations in Congenital Neutropenia Patients

Julia Skokowa, MD, PhD, Doris Steinemann, PhD, Vahagn Makaryan, MD, Maksim Klimiankou, Susanne Schnittger, PhD, Alexander Kohlmann, PhD, Brigitte Schlegelberger, Cornelia Zeidler, MD, David C. Dale, MD, Karl Welte, MD

Blood (2012) 120 (21): 7.

https://doi.org/10.1182/blood.V120.21.7.7

Published: 2012

Journal Articles

ELANE Mutations in Cyclic and Congenital Neutropenia: Genotype-Phenotype Relationships,

David C. Dale, MD, Vahagn Makaryan, MD, Audrey Anna Bolyard, RN, BS, Elin R. Rodger, BS, RMT, Merideth L. Kelley, BS, Tracy M. Marrero, Lan Phan, BA, Andrew A Aprikyan, PhD, Mary Ann Bonilla, MD, Peter E. Newburger, MD, Laurence A. Boxer, MD, Daniel Link, MD

Blood (2011) 118 (21): 3398.

https://doi.org/10.1182/blood.V118.21.3398.3398

Published: 2011

Journal Articles

The Cellular and Molecular Mechanisms of Neutropenia in Barth Syndrome

Andrew A Aprikyan, PhD, Vahagn Makaryan, MD, Willem Kulik, PhD, Frederic Vaz, PhD, Christopher Allen, Yigal Dror, MD, David C. Dale, MD

Blood (2011) 118 (21): 1105.

https://doi.org/10.1182/blood.V118.21.1105.1105

Published: 2011

Journal Articles

Neutrophil Elastase Mutations and the Risk of Leukemia In Patients with Cyclic and Congenital Neutropenia.

David C. Dale, MD, Vahagn Makaryan, MD, Audrey Anna Bolyard, RN, BS, Rodger Elin, BS, Andrew AG Aprikyan, PhD, Mary Ann Bonilla, MD, Peter E. Newburger, Laurence A Boxer, MD, Dan Link, MD

Blood (2010) 116 (21): 3786.

https://doi.org/10.1182/blood.V116.21.3786.3786

Published: 2010

Journal Articles

Small Molecule Inhibitor of Neutrophil Elastase Normalizes Myeloid Differentiation and Improves Impaired Cell Survival Triggered by Elastase Mutations In Patients with Severe Congenital Neutropenia and Acute Myeloid Leukemia

Andrew A. Aprikyan, PhD, Vahagn Makaryan, MD, Maxim Totrov, PhD, Ruben Abagyan, PhD, David C. Dale, MD

Blood (2010) 116 (21): 386.

https://doi.org/10.1182/blood.V116.21.386.386

Published: 2010

NARROW

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

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

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

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

The Effects of the Neutrophil Elastase Inhibitors MK0339 and Sivelestat on the Survival, Proliferation and Maturation of iPSC and HL60 Cells Expressing Mutant Neutrophil Elastase

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

Long Term Outcomes for Patients with Cyclic Neutropenia Treated with Granulocyte Colony-Stimulating Factor (G-CSF)

Cooperativity Of RUNX1 and CSF3R Mutations In The Development Of Leukemia In Severe Congenital Neutropenia: A Unique Pathway In Myeloid Leukemogenesis

TCIRG1 Associated Congenital Neutropenia

Clinical Outcomes for Patients with Severe Chronic Neutropenia Due to Mutations in the Gene for Neutrophil Elastase, ELANE

RUNX1 Mutations Are the Most Frequent Leukemia Associated Mutations in Congenital Neutropenia Patients

ELANE Mutations in Cyclic and Congenital Neutropenia: Genotype-Phenotype Relationships,

The Cellular and Molecular Mechanisms of Neutropenia in Barth Syndrome

Neutrophil Elastase Mutations and the Risk of Leukemia In Patients with Cyclic and Congenital Neutropenia.

Small Molecule Inhibitor of Neutrophil Elastase Normalizes Myeloid Differentiation and Improves Impaired Cell Survival Triggered by Elastase Mutations In Patients with Severe Congenital Neutropenia and Acute Myeloid Leukemia

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American Society of Hematology

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American Society of Hematology

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