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Journal Articles

Impaired DNA Damage Repair in Severe Congenital Neutropenia Patients

Perihan Mir, Maksim Klimiankou, PhD, Benjamin Dannenmann, Cornelia Zeidler, MD, Klaus Schulze-Osthoff, PhD, Lothar Kanz, MD, Karl Welte, MD, Julia Skokowa, MD PhD

Blood (2016) 128 (22): 1334.

https://doi.org/10.1182/blood.V128.22.1334.1334

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

Optimization of CSF3R Mutation Detection in Severe Congenital Neutropenia and Cyclic Neutropenia Patients for Routine Diagnostics Using Next Generation Sequencing

Maksim Klimiankou, PhD, Cornelia Zeidler, MD, Sabine Mellor-Heineke, Ingeborg Steiert, Karin Haehnel, Karl Welte, MD PhD, Julia Skokowa, MD PhD

Blood (2016) 128 (22): 3685.

https://doi.org/10.1182/blood.V128.22.3685.3685

Published: 2016

Journal Articles

Analysis of Leukemogenic Effects of RUNX1 and CSF3R Mutations Using Congenital Neutropenia (CN)/AML Patient-Derived Induced Pluripotent Stem Cells (iPSCs)

Benjamin Dannenmann, M.Sc., Maksim Klimiankou, PhD, Christian Lindner, B.Sc., Azadeh Zahabi, M.Sc., Regine Bernhard, Tatsuya Morishima, MD PhD, Cornelia Zeidler, MD, Lothar Kanz, MD, Karl Welte, MD, Julia Skokowa, MD PhD

Blood (2016) 128 (22): 404.

https://doi.org/10.1182/blood.V128.22.404.404

Published: 2016

Journal Articles

Homozygous Mutations in PHRF1 and PPARG in a Patient with Congenital Neutropenia and Profound Monocytosis: Understanding the Pathway Beyond Monocyte Versus Granulocyte Cell-Fate Choice

Houra Loghmani-khouzani, PhD, Maksim Klimiankou, PhD, Siarhei Kandabarau, BS, Cornelia Zeidler, MD MPH, Karl Welte, Prof. Dr. MD, Julia Skokowa, Prof. Dr.

Blood (2015) 126 (23): 648.

https://doi.org/10.1182/blood.V126.23.648.648

Published: 2015

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

First Case of Leukemia in a Child Suffering from Cyclic Neutropenia with ELANE Mutation

Cornelia Zeidler, MD MPH, Sabine Mellor-Heineke, MD, Maksim Klimiankou, Julia Skokowa, Prof. Dr., Karl Welte, Prof. Dr. MD

Blood (2015) 126 (23): 997.

https://doi.org/10.1182/blood.V126.23.997.997

Published: 2015

Journal Articles

Time Course of Acquisition of a CSF3R Mutation and Subsequent Development of AML in a Patient with Cyclic Neutropenia

Maksim Klimiankou, PhD, Olga Klimenkova, PhD, Lothar Kanz, Prof. Dr. MD, Cornelia Zeidler, MD, Karl Welte, Prof. Dr. MD, Julia Skokowa, Prof. Dr.

Blood (2015) 126 (23): 885.

https://doi.org/10.1182/blood.V126.23.885.885

Published: 2015

Journal Articles

Differential Expression of Neutrophil Granule Protein Genes in Bone Marrow Myeloid Cells at the Peak and Nadir of Neutrophil Counts in Cyclic Neutropenia

Olga Klimenkova, PhD, Maksim Klimiankou, PhD, Lothar Kanz, MD, Cornelia Zeidler, MD, Karl Welte, MD, Julia Skokowa, Prof. Dr.

Blood (2015) 126 (23): 2194.

https://doi.org/10.1182/blood.V126.23.2194.2194

Published: 2015

Journal Articles

Co-Acquisition of RUNX1 and CSF3R Mutations Transforms Hematopoietic Progenitor Cells of CN Patients into More Primitive Highly Proliferative Blasts: Evidence in CN Patients and in a Mouse Model

Olga Klimenkova, PhD, Maksim Klimiankou, Amy Schmidt, Carol Stocking, Cornelia Zeidler, MD, Daniel C. Link, Karl Welte, Prof. Dr. MD, Julia Skokowa, MD PhD

Blood (2014) 124 (21): 223.

https://doi.org/10.1182/blood.V124.21.223.223

Published: 2014

Journal Articles

Stop-Codon Mutation In The Extracellular Part Of G-CSFR Leading To G-CSF Unresponsiveness Due To Defects In Erk1/2 Phopsphorylation In a Patient With Severe Congenital Neutropenia

Olga Klimenkova, Cornelia Zeidler, MD, Julia Skokowa, Karl Welte

Blood (2013) 122 (21): 3461.

https://doi.org/10.1182/blood.V122.21.3461.3461

Published: 2013

Journal Articles

High Insta High Instability Of The CSF3R Gene In Severe Congenital Neutropenia Patients As Judged By Multiple CSF3R Mutations In The Majority Of Patients

Maksim Klimiankou, Murat Uenalan, MD PhD, Siarhei Kandabarau, Lutz Wiehlmann, Anna-Lena Hagemann, Annette Müller Brechlin, Marlene Reuter, Cornelia Zeidler, MD, Karl Welte, Julia Skokowa

Blood (2013) 122 (21): 2264.

https://doi.org/10.1182/blood.V122.21.2264.2264

Published: 2013

Journal Articles

Improved Outcome Of Stem Cell Transplantation for Severe Chronic Neutropenia With Or without Secondary Leukemia: A Long-Term Analysis of European Data For More Than 25 Years By the SCNIR

Cornelia Zeidler, MD/MPH, Anna Nickel, MPH, Karl-Walter Sykora, MD, Karl Welte, Prof. Dr. med.

Blood (2013) 122 (21): 3347.

https://doi.org/10.1182/blood.V122.21.3347.3347

Published: 2013

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

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

Identification of New Leukemia Associated Gene Mutations by Whole Genome Sequencing of DNA From Two Siblings with Congenital Neutropenia and Secondary AML

Maksim Klimiankou, Siarhei Kandabarau, Marlene Reuter, Anna-Lena Hagemann, Cornelia Zeidler, MD, Karl Welte, MD, Julia Skokowa, MD, PhD

Blood (2012) 120 (21): 12.

https://doi.org/10.1182/blood.V120.21.12.12

Published: 2012

Journal Articles

SCT for Secondary AML in a Patient with Glycogen Storage Disease Type 1b

Cornelia Zeidler, MD, Kinan Kafa, Martin G. Sauer, MD, Britta Maecker-Kolhoff, Johann Greil, MD, Karl Welte, MD, Christian P Kratz, MD, Karl-Walter Sykora

Blood (2012) 120 (21): 4402.

https://doi.org/10.1182/blood.V120.21.4402.4402

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

Neutrophil Extracellular Traps (NETs) in Patients with Congenital Neutropenia

Christine Happle, Manuela Germeshausen, PhD, Cornelia Zeidler, MD, Karl Welte, MD, Julia Skokowa, MD, PhD

Blood (2011) 118 (21): 15.

https://doi.org/10.1182/blood.V118.21.15.15

Published: 2011

Journal Articles

UPDATE On the RISK of SECONDARY LEUKEMIA In GENETIC SUBGROUPS ( ELANE , HAX1, WAS, G6PC3, p14 ) of CONGENITAL NEUTROPENIA In EUROPE

Cornelia Zeidler, MD, Peter Vandenberghe, MD, PhD, Irina Schäfer, Ludwig Hoy, Martin Zimmermann, PhD, Manuela Germeshausen, PhD, Karl Welte, MD

Blood (2011) 118 (21): 1106.

https://doi.org/10.1182/blood.V118.21.1106.1106

Published: 2011

NARROW

Impaired DNA Damage Repair in Severe Congenital Neutropenia Patients

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

Optimization of CSF3R Mutation Detection in Severe Congenital Neutropenia and Cyclic Neutropenia Patients for Routine Diagnostics Using Next Generation Sequencing

Analysis of Leukemogenic Effects of RUNX1 and CSF3R Mutations Using Congenital Neutropenia (CN)/AML Patient-Derived Induced Pluripotent Stem Cells (iPSCs)

Homozygous Mutations in PHRF1 and PPARG in a Patient with Congenital Neutropenia and Profound Monocytosis: Understanding the Pathway Beyond Monocyte Versus Granulocyte Cell-Fate Choice

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

First Case of Leukemia in a Child Suffering from Cyclic Neutropenia with ELANE Mutation

Time Course of Acquisition of a CSF3R Mutation and Subsequent Development of AML in a Patient with Cyclic Neutropenia

Differential Expression of Neutrophil Granule Protein Genes in Bone Marrow Myeloid Cells at the Peak and Nadir of Neutrophil Counts in Cyclic Neutropenia

Co-Acquisition of RUNX1 and CSF3R Mutations Transforms Hematopoietic Progenitor Cells of CN Patients into More Primitive Highly Proliferative Blasts: Evidence in CN Patients and in a Mouse Model

Stop-Codon Mutation In The Extracellular Part Of G-CSFR Leading To G-CSF Unresponsiveness Due To Defects In Erk1/2 Phopsphorylation In a Patient With Severe Congenital Neutropenia

High Insta High Instability Of The CSF3R Gene In Severe Congenital Neutropenia Patients As Judged By Multiple CSF3R Mutations In The Majority Of Patients

Improved Outcome Of Stem Cell Transplantation for Severe Chronic Neutropenia With Or without Secondary Leukemia: A Long-Term Analysis of European Data For More Than 25 Years By the SCNIR

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

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

Identification of New Leukemia Associated Gene Mutations by Whole Genome Sequencing of DNA From Two Siblings with Congenital Neutropenia and Secondary AML

SCT for Secondary AML in a Patient with Glycogen Storage Disease Type 1b

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

Neutrophil Extracellular Traps (NETs) in Patients with Congenital Neutropenia

UPDATE On the RISK of SECONDARY LEUKEMIA In GENETIC SUBGROUPS ( ELANE , HAX1, WAS, G6PC3, p14 ) of CONGENITAL NEUTROPENIA In EUROPE

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American Society of Hematology

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