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Journal Articles

Efficient Correction of ELANE mutations in Primary HSPCs of Severe Congenital Neutropenia Patients Using CRISPR/Cas9 and rAVV6 HDR Repair Templates

Malte U Ritter, Benjamin Secker, Maksim Klimiankou, Masoud Nasri, MSc, Narges Aghaallaei, Benjamin Dannenmann, Regine Bernhard, Ingeborg Steiert, Karin Haehnel, Baubak Bajoghli, Cornelia Zeidler, Karl Welte, Julia Skokowa, MD PhD

Blood (2019) 134 (Supplement_1): 1036.

https://doi.org/10.1182/blood-2019-131708

Published: 2019

Journal Articles

102 Patients with Primary Autoimmune Neutropenia : An Analysis of the European Severe Chronic Neutropenia International Registry (SCNIR)

Fabian Frömling, Sabine Mellor-Heineke, Natali Gerschmann, Lena Röbbel, Julia Skokowa, MD PhD, Karl Welte, Cornelia Zeidler

Blood (2019) 134 (Supplement_1): 1039.

https://doi.org/10.1182/blood-2019-130031

Published: 2019

Journal Articles

Disease Modeling of Severe Congenital Neutropenia Using CRISPR/Cas9 Gene Correction or Knockout of ELANE in Patients Derived Induced Pluripotent Stem Cells

Masoud Nasri, MSc, Benjamin Dannenmann, Perihan Mir, Malte U Ritter, Diana Amend, Yun Xu, Maksim Klimiankou, Cornelia Zeidler, Karl Welte, Julia Skokowa, MD PhD

Blood (2019) 134 (Supplement_1): 434.

https://doi.org/10.1182/blood-2019-129991

Published: 2019

Journal Articles

Hax1 Is Indispensable for Neutrophil Development in Zebrafish

Larissa Doll, Narges Aghaallaei, Karl Welte, Julia Skokowa, MD PhD, Baubak Bajoghli

Blood (2019) 134 (Supplement_1): 436.

https://doi.org/10.1182/blood-2019-130226

Published: 2019

Journal Articles

Mutation-Specific Dominant Negative Effects Determine the Phenotype in SRP54 D eficiency

Christoph Schuerch, MSc, Thorsten Schaefer, PhD, Joelle S. Müller, MSc, Pauline Hanns, MSc, Jonas Schärer, BSc, Julia Skokowa, MD PhD, Karl Welte, Raphael Carapito, PhD, Seiamak Bahram, MD, Martina Konantz, PhD, Claudia Lengerke, MD

Blood (2019) 134 (Supplement_1): 437.

https://doi.org/10.1182/blood-2019-127007

Published: 2019

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

Active DNA Demethylation Mediated By GADD45β Is Essential during G-CSF Triggered Granulocytic Differentiation

Perihan Mir, Maksim Klimiankou, Narges Aghaallaei, Betuel Findik, Frederic Thalheimer, Susanne Wingert, Michael A. Rieger, Thomas Thumberger, Cornelia Zeidler, Baubak Bajoghli, Karl Welte, Julia Skokowa, MD PhD

Blood (2019) 134 (Supplement_1): 211.

https://doi.org/10.1182/blood-2019-128508

Published: 2019

Journal Articles

Response to High Dose G-CSF Treatment (20µg/kg/d or Higher) of Patients with Congenital Neutropenia: An Analysis By the Scnir in Europe

Cornelia Zeidler, Natali Gerschmann, Sabine Mellor-Heineke, Fabian Frömling, Julia Skokowa, MD PhD, Karl Welte

Blood (2019) 134 (Supplement_1): 1225.

https://doi.org/10.1182/blood-2019-129844

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

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

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

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

IL-3 Specifies Early Hematopoietic Development from Human iPSCs and Synergizes with M-CSF and G-CSF on Myeloid Differentiation

Nico Lachmann, PhD, Mania Ackermann, Eileen Frenzel, Christine Happle, MD PhD, Olga Klimenkova, PhD, Sebastian Brennig, Doreen Lüttge, Theresa Buchegger, Sabina Janciauskiene, MD, Julia Skokowa, MD PhD, Dagmar Dilloo, MD, Thomas Moritz, MD

Blood (2014) 124 (21): 4308.

https://doi.org/10.1182/blood.V124.21.4308.4308

Published: 2014

Journal Articles

Mutations in the TNFRSF1A, CEBPE and ELANE genes in a Congenital Cyclic Neutropenia Patient: A New Syndrome?

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

Blood (2012) 120 (21): 11.

https://doi.org/10.1182/blood.V120.21.11.11

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

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

A Lack of Secretory Leukocyte Protease Inhibitor (SLPI) Causes Defects in Myeloid Differentiation

Olga Klimenkova, Wienke Ellerbeck, Ana Gigina, Karl Welte, MD, Julia Skokowa, MD, PhD

Blood (2012) 120 (21): 10.

https://doi.org/10.1182/blood.V120.21.10.10

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

NARROW

Efficient Correction of ELANE mutations in Primary HSPCs of Severe Congenital Neutropenia Patients Using CRISPR/Cas9 and rAVV6 HDR Repair Templates

102 Patients with Primary Autoimmune Neutropenia : An Analysis of the European Severe Chronic Neutropenia International Registry (SCNIR)

Disease Modeling of Severe Congenital Neutropenia Using CRISPR/Cas9 Gene Correction or Knockout of ELANE in Patients Derived Induced Pluripotent Stem Cells

Hax1 Is Indispensable for Neutrophil Development in Zebrafish

Mutation-Specific Dominant Negative Effects Determine the Phenotype in SRP54 D eficiency

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

Active DNA Demethylation Mediated By GADD45β Is Essential during G-CSF Triggered Granulocytic Differentiation

Response to High Dose G-CSF Treatment (20µg/kg/d or Higher) of Patients with Congenital Neutropenia: An Analysis By the Scnir in Europe

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

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

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

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

IL-3 Specifies Early Hematopoietic Development from Human iPSCs and Synergizes with M-CSF and G-CSF on Myeloid Differentiation

Mutations in the TNFRSF1A, CEBPE and ELANE genes in a Congenital Cyclic Neutropenia Patient: A New Syndrome?

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

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

A Lack of Secretory Leukocyte Protease Inhibitor (SLPI) Causes Defects in Myeloid Differentiation

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

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American Society of Hematology

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ASH Publications

American Society of Hematology

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