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Peter E. Newburger
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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
Journal: Blood
Blood (2024) 144 (Supplement 1): 2530.
https://doi.org/10.1182/blood-2024-210153
Published: 2024
Journal Articles

Absence of Neutropenia in Patient with an Exon 2 Nonsense Mutation in ELANE : Clinical Evidence to Support Gene Therapy Efforts for Severe Congenital Neutropenia

Margret Joos, Akiko Shimamura, Timothy H. Chang, Peter E. Newburger
Journal: Blood
Blood (2023) 142 (Supplement 1): 5661.
https://doi.org/10.1182/blood-2023-190110
Published: 2023
Journal Articles

A New Genetic Immunodeficiency Syndrome Caused By Autosomal Dominant Mutations in LCP1 Identified By Mosaic Tetraploidy and Severe Neutropenia in Unrelated Pedigrees

Thijs van Bergen, Anna Aalbers, Dennis Bosch, Onno Roovers, Akiko Shimamura, Marc H.G.P. Raaijmakers, Peter E. Newburger, Ivo P Touw
Journal: Blood
Blood (2022) 140 (Supplement 1): 5463–5464.
https://doi.org/10.1182/blood-2022-165112
Published: 2022
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

Jacob R. Bledsoe, Marine Delecourt-Billet, Merideth L. Kelley, Odile Fenneteau, Christoph B. Geier, Jadee Neff, Melis Yilmaz, Inga Sakovich, Svetlana Sharapova, Lori Neri, Viviana Moschese, Jolan E. Walter, Mirta Cavieres, Daigo Akahane, Talal Mousallem, Teresa Tarrant, Julie Li, Audrey Anna Bolyard, Alessandro Mauriello, Katja Sockel, Peter E. Newburger, Jean Donadieu, David C. Dale
Journal: Blood
Blood (2022) 140 (Supplement 1): 5487–5489.
https://doi.org/10.1182/blood-2022-155692
Published: 2022
Journal Articles

Gene Editing ELANE in Human Hematopoietic Stem and Progenitor Cells Reveals Disease Mechanisms and Therapeutic Strategies for Severe Congenital Neutropenia

Shuquan Rao, PhD, Josias Brito-Frazao, Anna V. Serbin, Qiuming Yao, PhD, Kevin Luk, Yuxuan Wu, PhD, Jing Zeng, MD, Chunyan Ren, PhD, Ruth Watkinson, Myriam Armant, PhD, Luca Pinello, PhD, Akiko Shimamura, MD PhD, Benhur Lee, Scot A. Wolfe, PhD, Peter E. Newburger, MD, Daniel E. Bauer, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3.
https://doi.org/10.1182/blood-2019-131073
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
Journal: Blood
Blood (2019) 134 (Supplement_1): 3589.
https://doi.org/10.1182/blood-2019-126181
Published: 2019
Journal Articles

Health Related Quality of Life and Fatigue in Patients with Pyruvate Kinase Deficiency

Eduard J. Van Beers, MD PhD, Kevin H. M. Kuo, MD MSc, FRCPC, D. Holmes Morton, MD, Wilma Barcellini, MD, Stefan W. Eber, MD, Bertil Glader, MD, Hassan M. Yaish, MD, Satheesh Chonat, MD, Nina Kollmar, MD, Jenny M. Despotovic, DO, MS, Dagmar Pospisilova, Prof. MD PhD, Christine M. Knoll, MD, Janet L. Kwiatkowski, MD, Yves D. Pastore, MD, Alexis A. Thompson, MD MPH, Winfred Wang, MD, Marcin W. Wlodarski, MD PhD, Peter E. Newburger, MD, Yaddanapudi Ravindranath, MBBS, Jennifer A. Rothman, MD, Heng Wang, MD PhD, Suzanne Holzhauer, MD MSc, Vicky R. Breakey, BSc, MD FRCPC, Madeleine M Verhovsek, MD FRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Heather A. Bradeen, MD, Melissa A. McNaull, MD, Kathryn Addonizio, BA, David N Williams, Rachael F. Grace, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 4807.
https://doi.org/10.1182/blood-2018-99-113206
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
Journal: Blood
Blood (2018) 132 (Supplement 1): 16.
https://doi.org/10.1182/blood-2018-99-112694
Published: 2018
Journal Articles

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Clinical Trials & Observations
Rachael F. Grace, Paola Bianchi, Eduard J. van Beers, Stefan W. Eber, Bertil Glader, Hassan M. Yaish, Jenny M. Despotovic, Jennifer A. Rothman, Mukta Sharma, Melissa M. McNaull, Elisa Fermo, Kimberly Lezon-Geyda, D. Holmes Morton, Ellis J. Neufeld, Satheesh Chonat, Nina Kollmar, Christine M. Knoll, Kevin Kuo, Janet L. Kwiatkowski, Dagmar Pospíšilová, Yves D. Pastore, Alexis A. Thompson, Peter E. Newburger, Yaddanapudi Ravindranath, Winfred C. Wang, Marcin W. Wlodarski, Heng Wang, Susanne Holzhauer, Vicky R. Breakey, Joachim Kunz, Sujit Sheth, Melissa J. Rose, Heather A. Bradeen, Nolan Neu, Dongjing Guo, Hasan Al-Sayegh, Wendy B. London, Patrick G. Gallagher, Alberto Zanella, Wilma Barcellini
Journal: Blood
Blood (2018) 131 (20): 2183–2192.
https://doi.org/10.1182/blood-2017-10-810796
Published: 2018
Includes: Supplemental data
Journal Articles

Cyclic Neutropenia, Congenital and Idiopathic Neutropenia

David Dale, MD, Audrey Anna Bolyard, RN, BS, Jamie Leung, Emily Tran, Tracy M. Marrero, Peter E. Newburger, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 2275.
https://doi.org/10.1182/blood.V130.Suppl_1.2275.2275
Published: 2017
Journal Articles

Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study

Paola Bianchi, BSc, PhD, Elisa Fermo, PhD, Kimberly Lezon-Geyda, PhD, Patrick G. Gallagher, MD, Richard van Wijk, PhD, Eduard J. Van Beers, MD, Hassan M. Yaish, MD, Janet L. Kwiatkowski, MD, Peter E. Newburger, MD, Yaddanapudi Ravindranath, MBBS, Oliver Andres, MD, Wilma Barcellini, MD, D. Holmes Morton, MD, Bertil Glader, MD, Stefan W. Eber, MD, Satheesh Chonat, MD, Nina Kollmar, MD, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Kevin H.M. Kuo, MD MSc, FRCPC, Dagmar Pospisilova, Prof. MD PhD, Yves D. Pastore, MD, Alexis A Thompson, MD MPH, Winfred Wang, MD, Marcin W. Wlodarski, MD PhD, Jennifer A. Rothman, MD, Heng Wang, MD PhD, Suzanne Holzhauer, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Heather A. Bradeen, MD, Melissa N. McNaull, MD, Gabrielle P. Ooyama, Nolan Neu, BS, Hasan Al-Sayegh, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 3479.
https://doi.org/10.1182/blood.V130.Suppl_1.3479.3479
Published: 2017
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
Journal: Blood
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
Journal: Blood
Blood (2016) 128 (22): 1326.
https://doi.org/10.1182/blood.V128.22.1326.1326
Published: 2016
Journal Articles

Iron Overload Is Highly Prevalent in All Disease Severity States in Pyruvate Kinase Deficiency (PKD)

Eduard J van Beers, MD PhD, Wilma Barcellini, Stefan W. Eber, MD, Janet L Kwiatkowski, MD, Jennifer A Rothman, MD, Ellis J Neufeld, MD PhD, Mukta Sharma, MD MPH, D Holmes Morton, MD, Bertil Glader, MD PhD, Nina Kollmar, MD, Hassan M. Yaish, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Yves D. Pastore, MD, Kevin Kuo, BSc, MD, Peter E. Newburger, MD, Marcin W Wlodarski, MD, Alexis A. Thompson, MD MPH, Yaddanapudi Ravindranath, Winfred C. Wang, MD, Heng Wang, MD, Joachim B. Kunz, MD, Vicky R. Breakey, BSc, MD MD FRCPC, Melissa J. Rose, DO, Melissa Rhodes, MD, Heather A Bradeen, MD, Sujit Sheth, MD, Dongjing Guo, MS, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2016) 128 (22): 2430.
https://doi.org/10.1182/blood.V128.22.2430.2430
Published: 2016
Journal Articles

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Brief Report
Klaus Schmitz-Abe, Szymon J. Ciesielski, Paul J. Schmidt, Dean R. Campagna, Fedik Rahimov, Brenda A. Schilke, Marloes Cuijpers, Klaus Rieneck, Birgitte Lausen, Michael L. Linenberger, Anoop K. Sendamarai, Chaoshe Guo, Inga Hofmann, Peter E. Newburger, Dana Matthews, Akiko Shimamura, Pieter J. L. M. Snijders, Meghan C. Towne, Charlotte M. Niemeyer, Henry G. Watson, Morten H. Dziegiel, Matthew M. Heeney, Alison May, Sylvia S. Bottomley, Dorine W. Swinkels, Kyriacos Markianos, Elizabeth A. Craig, Mark D. Fleming
Journal: Blood
Blood (2015) 126 (25): 2734–2738.
https://doi.org/10.1182/blood-2015-09-659854
Published: 2015
Includes: Supplemental data
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
Journal: Blood
Blood (2015) 126 (23): 996.
https://doi.org/10.1182/blood.V126.23.996.996
Published: 2015
Journal Articles

Is There a Role for Anti-Neutrophil Antibody Testing in Predicting Spontaneous Resolution of Neutropenia in Young Children

Laurence A. Boxer, MD, Audrey Anna Bolyard, RN, BS, Tracy M. Marrero, Emily L. Tran, BA, Mary Ann Bonilla, MD, Peter E. Newburger, MD, David C. Dale, MD
Journal: Blood
Blood (2015) 126 (23): 2211.
https://doi.org/10.1182/blood.V126.23.2211.2211
Published: 2015
Journal Articles

The Phenotypic Spectrum of Pyruvate Kinase Deficiency (PKD) from the PKD Natural History Study (NHS): Description of Four Severity Groups By Anemia Status

Rachael F. Grace, MD, D Holmes Morton, MD, Wilma Barcellini, MD, Stefan W. Eber, MD, Jenny M Depsotovic, DO, Christine M. Knoll, MD, Hassan M. Yaish, MD, Peter E. Newburger, MD, Jennifer Rothman, MD, Alexis A. Thompson, MD, Yaddanapudi Ravindranath, MBBS, Joachim Kunz, MD, Eduard J van Beers, MD PhD, Marcin W Wlodarski, MD, Kerri A Nottage, MD MPH, Heng Wang, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Yves D. Pastore, MD, Patricia J. Giardina, MD, Melissa Rhodes, MD, Kevin Kuo, BSc, MD, Vicky R. Breakey, BSc, MD MD FRCPC, Ellis J. Neufeld, MD PhD, Dongjing Guo, MS, Wendy B. London, PhD, Jill Falcone, Bertil Glader, MD PhD
Journal: Blood
Blood (2015) 126 (23): 2136.
https://doi.org/10.1182/blood.V126.23.2136.2136
Published: 2015
Journal Articles

Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants

Paola Bianchi, BSC, PhD, Elisa Fermo, PhD, Kimberly Lezon-Geyda, PhD, Patrick G. Gallagher, MD, D Holmes Morton, MD, Wilma Barcellini, MD, Bertil Glader, MD PhD, Stefan W. Eber, MD, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Hassan M. Yaish, MD, Peter E. Newburger, MD, Jennifer Rothman, MD, Alexis A. Thompson, MD, Yaddanapudi Ravindranath, MBBS, Kerri A Nottage, MD MPH, Heng Wang, MD, Eduard J. van Beers, MD PhD, Joachim Kunz, MD, Marcin W Wlodarski, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Yves D. Pastore, MD, Patricia J. Giardina, MD, Melissa Rhodes, MD, Kevin Kuo, BSc, MD, Dongjing Guo, MS, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2015) 126 (23): 3337.
https://doi.org/10.1182/blood.V126.23.3337.3337
Published: 2015
Journal Articles

Understanding Neutropenia: The 20 Year Experience of the Severe Chronic Neutropenia International Registry (SCNIR)

David C. Dale, MD, Audrey Anna Bolyard, RN, BS, Cornelia Zeidler, MDMPH, Tracy M. Marrero, Laurence A. Boxer, MD, Peter E. Newburger, MD, Blanche P. Alter, MD MPH, PK Morrow, MD, Mary Ann Bonilla, MD, Yigal Dror, MD FRCP(C), Frank Firkin, MBBS PhDFRACP FRCPA, Sally Kinsey, MD, John E. Levine, MD MS, Daniel C. Link, MD, Lee Reeves, Philip S. Rosenberg, PhD, Akiko Shimamura, MD PhD, Karl Welte, MD
Journal: Blood
Blood (2014) 124 (21): 2730.
https://doi.org/10.1182/blood.V124.21.2730.2730
Published: 2014