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Journal Articles

A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations

Blood blood.2023022576.

https://doi.org/10.1182/blood.2023022576

Published: 2024

Includes: Supplemental data

Journal Articles

Flavopiridol Restores Granulopoiesis in an Experimental Model of Severe Congenital Neutropenia

Benjamin Dannenmann, Masoud Nasri, Larissa Doll, Betül Findik, Franka Bernhard, Sergey Kandabarau, Maksim Klimiankou, Claudia Lengerke, Cornelia Zeidler, Karl Welte, Julia Skokowa

Blood (2024) 144 (Supplement 1): 419.

https://doi.org/10.1182/blood-2024-209864

Published: 2024

Journal Articles

Autosomal Recessive COPZ1 Mutations Cause Isolated Severe Neutropenia or Complex Syndrome with Severe Neutropenia

Blood (2024) 144 (Supplement 1): 417.

https://doi.org/10.1182/blood-2024-199069

Published: 2024

Journal Articles

Modulating G-CSFR Signaling Using De Novo Designed Cytokines

Timo Ullrich, Birte Hernandez Alvarez, Christoph Pollmann, Malte Ulrich Ritter, Jérémy Haaf, Narges Aghaallaei, Jacob Piehler, Ivan Tesakov, Maya El-Riz, Kateryna Maksymenko, Valeriia Hatskovska, Sergey Kandabarau, Maksim Klimiankou, Claudia Lengerke, Karl Welte, Andrei Lupas, Julia Skokowa, Mohammad ElGamacy

Blood (2024) 144 (Supplement 1): 4967.

https://doi.org/10.1182/blood-2024-209668

Published: 2024

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

Blood (2024) 144 (Supplement 1): 2530.

https://doi.org/10.1182/blood-2024-210153

Published: 2024

Journal Articles

A Universal CRISPR/Cas9n-Mediated Genome Editing Approach for ELANE -Related Severe Congenital Neutropenia

Masoud Nasri, Malte Ulrich Ritter, Perihan Mir, Benjamin Dannenmann, Masako Monika Kaufmann, Yun Xu, Natalia Borbaran-Bravo, Maksim Klimiankou, Claudia Lengerke, Cornelia Zeidler, Toni Cathomen, Karl Welte, Julia Skokowa

Blood (2023) 142 (Supplement 1): 932.

https://doi.org/10.1182/blood-2023-181678

Published: 2023

Journal Articles

A Pipeline for Comparison and Selection of Clinically Applicable Gene Therapy Approaches for ELANE -Associated Severe Congenital Neutropenia

Malte Ulrich Ritter, Masoud Nasri, Benjamin Dannenmann, Perihan Mir, Benjamin Secker, Cornelia Zeidler, Maksim Klimiankou, Karl Welte, Julia Skokowa

Blood (2023) 142 (Supplement 1): 934.

https://doi.org/10.1182/blood-2023-188707

Published: 2023

Journal Articles

Differential Expression of C/Ebpa and Its Stem Cell-Specific Targets in Congenital Neutropenias and Cyclic Neutropenias

Alexander Zeidler, Natalia Borbaran-Bravo, Josef Koenig, Cornelia Zeidler, Julia Skokowa, Karl Welte

Blood (2022) 140 (Supplement 1): 11174.

https://doi.org/10.1182/blood-2022-169231

Published: 2022

Journal Articles

Accumulation of Specific Somatic Leukemia-Associated Mutations in Congenital Neutropenia Precedes Malignant Transformation - New Preconditions for Treatment Decisions

Maksim Klimiankou, Sergey Kandabarau, Cornelia Zeidler, Ingeborg Steiert, Denys Pogozhykh, David C. Dale, Karl Welte, Julia Skokowa

Blood (2022) 140 (Supplement 1): 994–995.

https://doi.org/10.1182/blood-2022-158914

Published: 2022

Journal Articles

CLPB in neutropenia: 1 gene with many faces

Claudia Lengerke, Julia Skokowa

Blood (2022) 139 (5): 649–650.

https://doi.org/10.1182/blood.2021012606

Published: 2022

Journal Articles

Old drug revisited: disulfiram, NETs, and sepsis

Maksim Klimiankou, Julia Skokowa

Blood (2021) 138 (25): 2604–2605.

https://doi.org/10.1182/blood.2021013438

Published: 2021

Journal Articles

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing

Christoph Schürch, Thorsten Schaefer, Joëlle S. Müller, Pauline Hanns, Marlon Arnone, Alain Dumlin, Jonas Schärer, Irmgard Sinning, Klemens Wild, Julia Skokowa, Karl Welte, Raphael Carapito, Seiamak Bahram, Martina Konantz, Claudia Lengerke

Blood (2021) 137 (10): 1340–1352.

https://doi.org/10.1182/blood.2020008115

Published: 2021

Includes: Supplemental data

Journal Articles

Efficient Correction of HAX1 Mutations in Primary HSPCs of Severe Congenital Neutropenia Patients Using CRISPR/CAS9 GENE-Editing

Malte U Ritter, Benjamin Secker, Masoud Nasri, MSc, Maksim Klimiankou, Benjamin Dannenmann, MSc, Diana Amend, Jeremy Haaf, Msc, Perihan Mir, Regine Bernhard, Ingeborg Steiert, Cornelia Zeidler, Karl Welte, Julia Skokowa, MDPhD

Blood (2020) 136 (Supplement 1): 22.

https://doi.org/10.1182/blood-2020-140260

Published: 2020

Journal Articles

Nicotinamide (NA) Treatment Improves Response to G-CSF in Severe Congenital Neutropenia (SCN) Patients

Ekaterina Deordieva, Julia Skokowa, MDPhD, Anna Shcherbina, Galina Novichkova, MD, Alexey Maschan, MD, Karl Welte

Blood (2020) 136 (Supplement 1): 38.

https://doi.org/10.1182/blood-2020-142289

Published: 2020

Journal Articles

De Novo Design of Granulopoietic Proteins

Julia Skokowa, MDPhD, Mohammad Elgamacy, PhDMSc,BSc, Patrick Müller

Blood (2020) 136 (Supplement 1): 34–35.

https://doi.org/10.1182/blood-2020-138852

Published: 2020

Journal Articles

Transcriptome Analysis of Severe Congenital Neutropenia Associated Leukemia with Different Types of RUNX1 Mutations in an iPSC-Based Model

Benjamin Dannenmann, MSc, Benedikt Oswald, Malte U Ritter, Masoud Nasri, MSc, Regine Bernhard, Cornelia Zeidler, Karl Welte, Julia Skokowa, MDPhD, Maksim Klimiankou

Blood (2020) 136 (Supplement 1): 23–24.

https://doi.org/10.1182/blood-2020-142524

Published: 2020

Journal Articles

A Zebrafish Model for Severe Congenital Neutropenia with Jagn1b-Deficiency

Larissa Doll, Narges Aghaallaei, Julia Skokowa, MDPhD, Karl Welte, Baubak Bajoghli

Blood (2020) 136 (Supplement 1): 14.

https://doi.org/10.1182/blood-2020-141886

Published: 2020

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

NARROW

A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations

Flavopiridol Restores Granulopoiesis in an Experimental Model of Severe Congenital Neutropenia

Autosomal Recessive COPZ1 Mutations Cause Isolated Severe Neutropenia or Complex Syndrome with Severe Neutropenia

Modulating G-CSFR Signaling Using De Novo Designed Cytokines

Genotype-Phenotype Correlations in Patients with Severe Chronic Neutropenia Harboring ELANE Mutations: A Long-Term Study of the Severe Chronic Neutropenia International Registry

A Universal CRISPR/Cas9n-Mediated Genome Editing Approach for ELANE -Related Severe Congenital Neutropenia

A Pipeline for Comparison and Selection of Clinically Applicable Gene Therapy Approaches for ELANE -Associated Severe Congenital Neutropenia

Differential Expression of C/Ebpa and Its Stem Cell-Specific Targets in Congenital Neutropenias and Cyclic Neutropenias

Accumulation of Specific Somatic Leukemia-Associated Mutations in Congenital Neutropenia Precedes Malignant Transformation - New Preconditions for Treatment Decisions

CLPB in neutropenia: 1 gene with many faces

Old drug revisited: disulfiram, NETs, and sepsis

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing

Efficient Correction of HAX1 Mutations in Primary HSPCs of Severe Congenital Neutropenia Patients Using CRISPR/CAS9 GENE-Editing

Nicotinamide (NA) Treatment Improves Response to G-CSF in Severe Congenital Neutropenia (SCN) Patients

De Novo Design of Granulopoietic Proteins

Transcriptome Analysis of Severe Congenital Neutropenia Associated Leukemia with Different Types of RUNX1 Mutations in an iPSC-Based Model

A Zebrafish Model for Severe Congenital Neutropenia with Jagn1b-Deficiency

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

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American Society of Hematology

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American Society of Hematology

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