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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

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

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

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

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

Determination of Phase 3 Dose for X4P-001 in Patients with WHIM Syndrome

David C Dale, MD, Frank Caleb Firkin, MD, Audrey Anna Bolyard, RN, BS, Merideth L. Kelley, MSc, Emily Dick, BA, Sonja Hartmann, PhD, Karen Brown, PhD, Tarek M Ebrahim, MD, Kenneth J Gorelick, MD, Sudha Parasuraman, MD

Blood (2018) 132 (Supplement 1): 1102.

https://doi.org/10.1182/blood-2018-99-119840

Published: 2018

Journal Articles

A Novel Device Suitable for Home Monitoring of White Blood Cell and Neutrophil Counts

David C Dale, MD, Merideth L. Kelley, MSc, Myriam Navarro-De La Vega, Dhruv Parthasarathy, Deepika Bodapati, Louis Virey, MSc, Steve Moffatt, BSc, Tanay Tandon

Blood (2018) 132 (Supplement 1): 1103.

https://doi.org/10.1182/blood-2018-99-112647

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

Neutropenia Is an Under-Recognized Finding in Pediatric Primary Immunodeficiency Diseases: An Analysis of the United States Immunodeficiency Network Registry

Thomas F. Michniacki, MD, Kelly J. Walkovich, MD, Julie Sturza, MPH, Lauren E. Merz, BA, James Connelly, MD, Rebecca A. Marsh, David C Dale, MD, Elizabeth Garabedian, RN, MS

Blood (2018) 132 (Supplement 1): 3685.

https://doi.org/10.1182/blood-2018-99-113199

Published: 2018

Journal Articles

Myelodysplasia, Leukemia, Lymphoid Malignancies, and Other Cancers in Patients with Severe Chronic Neutropenia

David C Dale, MD, Audrey Anna Bolyard, RN, BS, Blanche P. Alter, MD MPH, Mary Ann Bonilla, MD, James Connelly, MD, Daniel C. Link, MD, Peter E. Newburger, MD, Philip S. Rosenberg, PhD, Akiko Shimamura, MD PhD, Kelly J. Walkovich, MD

Blood (2018) 132 (Supplement 1): 16.

https://doi.org/10.1182/blood-2018-99-112694

Published: 2018

Journal Articles

Peg-Filgrastim for the Treatment of Severe Chronic Neutropenia

Audrey Anna Bolyard, RN, BS, Tracy M. Marrero, Laurence A. Boxer, MD, Peter E. Newburger, MD, Mary Ann Bonilla, MD, David C. Dale, MD

Blood (2016) 128 (22): 1332.

https://doi.org/10.1182/blood.V128.22.1332.1332

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

Germline and Somatic Genetic Characterization of Shwachman-Diamond Syndrome

Kasiani C. Myers, MD, Adam S. Nelson, MBBS, Brian Sheehan, Maggie Malsch, Gwendolyn Towers, Audrey Anna Bolyard, RN, BS, Joan Moore, Sara Loveless, Leann Mount, Stella M Davies, MBBS, PhD, Siobán B. Keel, MD, Rabi Hanna, MD, Mark D. Fleming, MD DPhil, David C. Dale, MD, Akiko Shimamura, MD PhD

Blood (2016) 128 (22): 2681.

https://doi.org/10.1182/blood.V128.22.2681.2681

Published: 2016

Journal Articles

Mutation Burden in Hematopoietic Stem Cells Is Not Increased in Congenital Neutropenia

Jun Xia, Akiko Shimamura, MD PhD, Kasiani C. Myers, MD, Laurence A. Boxer, MD, David C. Dale, MD, Amrita Ramesh, Matthew Jotte, Daniel C. Link, MD

Blood (2016) 128 (22): 405.

https://doi.org/10.1182/blood.V128.22.405.405

Published: 2016

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

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

Barth Syndrome: An Under-Recognized Cause of Chronic Neutropenia

Colin G. Steward, MD PhD, Sarah J. Groves, Carolyn L. Taylor, MD, Melissa K. Maisenbacher, MS, CGC, Birgitta Versluys, MD, Ruth Newbury-Ecob, MD FRCP, Hulya Ozsahin, MD, Leo Hamilton, MD, Michaela K. Damin, MSc, CGC, Valerie M. Bowen, Katherine R. McCurdy, Michael C. Mackey, PhD FRSC, Audrey Anna Bolyard, RN, BS, David C. Dale, MD

Blood (2015) 126 (23): 2195.

https://doi.org/10.1182/blood.V126.23.2195.2195

Published: 2015

NARROW

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

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?

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

Family Studies of Whim Syndrome

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

Determination of Phase 3 Dose for X4P-001 in Patients with WHIM Syndrome

A Novel Device Suitable for Home Monitoring of White Blood Cell and Neutrophil Counts

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

Neutropenia Is an Under-Recognized Finding in Pediatric Primary Immunodeficiency Diseases: An Analysis of the United States Immunodeficiency Network Registry

Myelodysplasia, Leukemia, Lymphoid Malignancies, and Other Cancers in Patients with Severe Chronic Neutropenia

Peg-Filgrastim for the Treatment of Severe Chronic Neutropenia

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

Germline and Somatic Genetic Characterization of Shwachman-Diamond Syndrome

Mutation Burden in Hematopoietic Stem Cells Is Not Increased in Congenital Neutropenia

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

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

Barth Syndrome: An Under-Recognized Cause of Chronic Neutropenia

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