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Journal Articles

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Blood (2023) 141 (23): 2853–2866.

DOI: https://doi.org/10.1182/blood.2022019425

Published: 2023

Includes: Supplemental data

Journal Articles

Germline Variants in MDM4 Cause a Disorder of p53 Dysregulation and Insufficient Telomere Maintenance

Robert Meyer, Matthias Begemann, Marcus Jakob, Claudia Khurana, Daniela Dey, Tarek Hanafee Alali, Heinz Gabriel, Kim Kricheldorf, Margherita Vieri, Susanne Isfort, Martin Kirschner, Jens Panse, Udo Kontny, Selim Corbacioglu, Tim H. Brümmendorf, Ingo Kurth, Fabian Beier

Blood (2022) 140 (Supplement 1): 2951–2952.

DOI: https://doi.org/10.1182/blood-2022-168631

Published: 2022

Journal Articles

Blocking the CD47-Sirpa Axis Enhances Tafasitamab-Mediated Phagocytosis

Blood (2022) 140 (Supplement 1): 9292–9293.

DOI: https://doi.org/10.1182/blood-2022-159955

Published: 2022

Journal Articles

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Blood (2022) 139 (7): 1039–1051.

DOI: https://doi.org/10.1182/blood.2021011980

Published: 2022

Includes: Supplemental data

Journal Articles

An Inducible Leukemia-Associated Transcription Factor Facilitates Large-Scale Ex Vivo Generation of Functional Human Macrophages

Blood (2021) 138 (Supplement 1): 2805.

DOI: https://doi.org/10.1182/blood-2021-148336

Published: 2021

Journal Articles

Clinical Presentation of Patients with Adult Late-Onset Telomere Biology Disorders - Results from the Aachen Telomeropathy Registry

Blood (2021) 138 (Supplement 1): 1130.

DOI: https://doi.org/10.1182/blood-2021-153630

Published: 2021

Journal Articles

RPA1 Gain of Function Causes Human Short Telomere Syndrome with Revertant Somatic Mosaicism

Richa Sharma, MD, Sushree Sangita Sahoo, PhD, Masayoshi Honda, Charnise Goodings-Harris, PhD, Victor Pastor, PhD, Hauke Busch, PhD, Melanie Börries, PhD, Fabian Beier, MD, Miriam Erlacher, MD PhD, Melchior Lauten, Marc Wold, PhD, Maria Spies, PhD, Charlotte M. Niemeyer, MD, Marcin Wlodarski, MD PhD

Blood (2020) 136 (Supplement 1): 36–37.

DOI: https://doi.org/10.1182/blood-2020-143006

Published: 2020

Journal Articles

Prevalence of Inherited Predisposition Syndromes in Young Patients with Acute Myeloid Leukemia and Aberrant Karyotype

Martin Kirschner, Benjamin Rolles, MD, Martina Crysandt, Christoph Röllig, Prof., MD, Friedrich Stolzel, MD, Martin Bornhäuser, MD, Carsten Müller-Tidow, MD, Kim Kricheldorf, Margherita Vieri, PhD, Matthias Begemann, Angela Maurer, Jens Panse, MD, Susanne Isfort, Marcin Wlodarski, MD PhD, Sushree Sangita Sahoo, PhD, Tim H Brümmendorf, MD, Edgar Jost, Fabian Beier, MD

Blood (2020) 136 (Supplement 1): 41–42.

DOI: https://doi.org/10.1182/blood-2020-142815

Published: 2020

Journal Articles

Clonal hematopoiesis in donors and long-term survivors of related allogeneic hematopoietic stem cell transplantation

Steffen Boettcher, C. Matthias Wilk, Jochen Singer, Fabian Beier, Elodie Burcklen, Christian Beisel, Monica S. Ventura Ferreira, Elise Gourri, Christoph Gassner, Beat M. Frey, Urs Schanz, Radek C. Skoda, Benjamin L. Ebert, Tim H. Brummendorf, Niko Beerenwinkel, Markus G. Manz

Blood (2020) 135 (18): 1548–1559.

DOI: https://doi.org/10.1182/blood.2019003079

Published: 2020

Includes: Supplemental data

Journal Articles

Mechanistic Characterization of Tafasitamab-Mediated Antibody-Dependent Cellular Phagocytosis Alone or in Combination with Lenalidomide

Dimitrios Mougiakakos, MD, Simon Voelkl, PhD, Christian Bach, Andrej Stoll, Katrin Bitterer, Fabian Beier, MD, Jan Endell, Rainer Boxhammer, Jörg Thomas Bittenbring, MD, Andreas Mackensen, MD, Heiko Bruns, PhD

Blood (2019) 134 (Supplement_1): 4064.

DOI: https://doi.org/10.1182/blood-2019-124886

Published: 2019

Journal Articles

Common Variable Immunodeficiency (CVID) in Adults As First Manifestation of (cryptic) Dyskeratosis Congenita

Benjamin Rolles, MD, Alla Bulashevska, PhD, Michele Proietti, MD, Sigune Goldacker, MD, Klaus Warnatz, MD, Nadezhda Camacho-Ordonez, MD, Margherita Vieri, MSc, Martin Kirschner, MD, Tim H Brümmendorf, MD, Bodo Grimbacher, MD, Fabian Beier, MD

Blood (2019) 134 (Supplement_1): 1217.

DOI: https://doi.org/10.1182/blood-2019-128915

Published: 2019

Journal Articles

Androgen Derivatives Improve Blood Counts and Elongate Telomere Length in Patients with Dyskeratosis Congenita

Martin Kirschner, MD, Monica Sofia Ventura Ferreira, PhD, Anne-Sophie Bouillon, MD, Marcin W. Wlodarski, MD PhD, Michaela Schwarz, MD, Stefan Balabanov, MD PhD, Stefan Wilop, MD, Steffen Koschmieder, MD, Jens P. Panse, MD, Tim H. Brümmendorf, MD, Fabian Beier, MD

Blood (2018) 132 (Supplement 1): 2585.

DOI: https://doi.org/10.1182/blood-2018-99-118197

Published: 2018

Journal Articles

Comparison of Fluorescence in Situ Hybridization and Flow Cytometry (Flow-FISH) with Monochrome Multiplex Quantitative Polymerase Chain Reaction (MM-qPCR) for Telomere Length Screening in Adult Patients with Suspected Cryptic Dyskeratosis Congenita (DKC)

Monica Sofia Ventura Ferreira, PhD, Natalia Estrada, Martin Kirschner, MD, Blanca Xicoy, Anne-Sophie Bouillon, MD, Stefan Wilop, MD, Steffen Koschmieder, MD, Jens P. Panse, MD, Tim H. Brümmendorf, MD, Fabian Beier, MD

Blood (2018) 132 (Supplement 1): 3861.

DOI: https://doi.org/10.1182/blood-2018-99-117330

Published: 2018

Journal Articles

Detection of Clonal Hematopoiesis Is a Rare Event in Patients with Dyskeratosis Congenita

Martin Kirschner, MD, Angela Maurer, Marcin W. Wlodarski, MD PhD, Monica Sofia Ventura Ferreira, Anne-Sophie Bouillon, MD, Wolfgang Blau, Michael Kreuter, MD, Martin Rosewich, Selim Corbacioglu, MD PhD, Joachim Beck, MD, C. Matthias Wilk, MD, Steffen Koschmieder, Fabian Beier, MD, Tim H. Brummendorf, MD

Blood (2017) 130 (Supplement 1): 2457.

DOI: https://doi.org/10.1182/blood.V130.Suppl_1.2457.2457

Published: 2017

Journal Articles

Analysis of the Hematopoietic System in Long-Term Survivors of Allogeneic Stem Cell Transplantation and Their Respective Donors

C. Matthias Wilk, MD, Steffen Boettcher, MD, Fabian Beier, MD, Tim H. Brümmendorf, MD, Markus G Manz, MD

Blood (2017) 130 (Supplement 1): 1996.

DOI: https://doi.org/10.1182/blood.V130.Suppl_1.1996.1996

Published: 2017

Journal Articles

the IKZF1-IRF4 Axis Regulates Macrophage Polarization and Macrophage-Mediated Anti-Tumor Immunity

Heiko Bruns, PhD, Dimitrios Mougiakakos, Christian Bach, Martin Böttcher, Joerg Thomas Bittenbring, MD, Maike Büttner, Kolja Gelse, Michael Rehli, Julia Wimmer, Fabian Beier, MD, Deniz Gezer, Jan Krönke, MD, Heidi Balzer, Stephanie Moi, Bernd Spriewald, MD, Andreas Mackensen, MD, Leonhard Busch

Blood (2016) 128 (22): 2514.

DOI: https://doi.org/10.1182/blood.V128.22.2514.2514

Published: 2016

Journal Articles

Telomere Length Shortening in the CML Leukemic Stem Cell Compartment Correlates with the Respective Clone Size: Evidence for Early Vs. Late Chronic Phase

Anne-Sophie Bouillon, Monica S. Ferreira, PhD, Shady Adnan Awad, Johan Richter, MD, Henrik Hjorth-Hansen, MD PhD, Thoas Fioretos, Sebastian Hummel, Mirle Schemionek, PhD, Satu Mustjoki, MD PhD, Fabian Beier, MD, Tim H. Brümmendorf, MD

Blood (2016) 128 (22): 4243.

DOI: https://doi.org/10.1182/blood.V128.22.4243.4243

Published: 2016

Journal Articles

Cooperating Effect of Rps14 , Csnk1a1 and miRNA145/miRNA146a Haploinsufficiency in the Activation of the Innate Immune System in Del(5q) MDS

Schneider K. Rebekka, MD, Monica Schenone, PhD, Monica Ferreira Ventura, PhD, Fabian Beier, MD, Tim H. Bruemmendorf, MD, Ulrich Germing, MD, Uwe Platzbecker, MD, Guntram Büsche, MD, Marie E. McConkey, PhD, Christopher S Waters, R. Coleman Lindsley, MDPhD, Benjamin L. Ebert, MD

Blood (2015) 126 (23): 356.

DOI: https://doi.org/10.1182/blood.V126.23.356.356

Published: 2015

Journal Articles

Comprehensive Genomic Analysis Provides Further Evidence That Iron Overload Can Induce Genetic Instability in Myelodysplastic Syndromes

Gina Westhofen, Christina Ganster, Fabian Beier, MD, Tienush Rassaf, Haifa Kathrin Al-Ali, MD, Reingard Stuhlmann, Ulrike Bacher, Tim H. Brümmendorf, Ulrich Germing, MD, Norbert Gattermann, MD, Detlef Haase, MD

Blood (2015) 126 (23): 2842.

DOI: https://doi.org/10.1182/blood.V126.23.2842.2842

Published: 2015

Journal Articles

Comprehensive Analysis of Telomere Biology in Patients with Aplastic Anemia and Hypoplastic Myelodysplastic Syndrome: Further Evidence for a Common Mechanism

Anne-Sophie Bouillon, Monica S. Ferreira, PhD, Benjamin Werner, PhD, Sebastian Hummel, Jens P. Panse, MD, Petra Reinecke, MD, Jennifer Schemenau, Rainer Haas, MD, Arne Traulsen, PhD, Tim H. Bruemmendorf, MD, Ulrich Germing, MD, Fabian Beier, MD

Blood (2015) 126 (23): 2858.

DOI: https://doi.org/10.1182/blood.V126.23.2858.2858

Published: 2015

NARROW

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Germline Variants in MDM4 Cause a Disorder of p53 Dysregulation and Insufficient Telomere Maintenance

Blocking the CD47-Sirpa Axis Enhances Tafasitamab-Mediated Phagocytosis

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

An Inducible Leukemia-Associated Transcription Factor Facilitates Large-Scale Ex Vivo Generation of Functional Human Macrophages

Clinical Presentation of Patients with Adult Late-Onset Telomere Biology Disorders - Results from the Aachen Telomeropathy Registry

RPA1 Gain of Function Causes Human Short Telomere Syndrome with Revertant Somatic Mosaicism

Prevalence of Inherited Predisposition Syndromes in Young Patients with Acute Myeloid Leukemia and Aberrant Karyotype

Clonal hematopoiesis in donors and long-term survivors of related allogeneic hematopoietic stem cell transplantation

Mechanistic Characterization of Tafasitamab-Mediated Antibody-Dependent Cellular Phagocytosis Alone or in Combination with Lenalidomide

Common Variable Immunodeficiency (CVID) in Adults As First Manifestation of (cryptic) Dyskeratosis Congenita

Androgen Derivatives Improve Blood Counts and Elongate Telomere Length in Patients with Dyskeratosis Congenita

Comparison of Fluorescence in Situ Hybridization and Flow Cytometry (Flow-FISH) with Monochrome Multiplex Quantitative Polymerase Chain Reaction (MM-qPCR) for Telomere Length Screening in Adult Patients with Suspected Cryptic Dyskeratosis Congenita (DKC)

Detection of Clonal Hematopoiesis Is a Rare Event in Patients with Dyskeratosis Congenita

Analysis of the Hematopoietic System in Long-Term Survivors of Allogeneic Stem Cell Transplantation and Their Respective Donors

the IKZF1-IRF4 Axis Regulates Macrophage Polarization and Macrophage-Mediated Anti-Tumor Immunity

Telomere Length Shortening in the CML Leukemic Stem Cell Compartment Correlates with the Respective Clone Size: Evidence for Early Vs. Late Chronic Phase

Cooperating Effect of Rps14 , Csnk1a1 and miRNA145/miRNA146a Haploinsufficiency in the Activation of the Innate Immune System in Del(5q) MDS

Comprehensive Genomic Analysis Provides Further Evidence That Iron Overload Can Induce Genetic Instability in Myelodysplastic Syndromes

Comprehensive Analysis of Telomere Biology in Patients with Aplastic Anemia and Hypoplastic Myelodysplastic Syndrome: Further Evidence for a Common Mechanism

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American Society of Hematology

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American Society of Hematology

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