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Journal Articles

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Ilenia Simeoni, Jonathan C. Stephens, Fengyuan Hu, Sri V. V. Deevi, Karyn Megy, Tadbir K. Bariana, Claire Lentaigne, Sol Schulman, Suthesh Sivapalaratnam, Minka J. A. Vries, Sarah K. Westbury, Daniel Greene, Sofia Papadia, Marie-Christine Alessi, Antony P. Attwood, Matthias Ballmaier, Gareth Baynam, Emilse Bermejo, Marta Bertoli, Paul F. Bray, Loredana Bury, Marco Cattaneo, Peter Collins, Louise C. Daugherty, Rémi Favier, Deborah L. French, Bruce Furie, Michael Gattens, Manuela Germeshausen, Cedric Ghevaert, Anne C. Goodeve, Jose A. Guerrero, Daniel J. Hampshire, Daniel P. Hart, Johan W. M. Heemskerk, Yvonne M. C. Henskens, Marian Hill, Nancy Hogg, Jennifer D. Jolley, Walter H. Kahr, Anne M. Kelly, Ron Kerr, Myrto Kostadima, Shinji Kunishima, Michele P. Lambert, Ri Liesner, José A. López, Rutendo P. Mapeta, Mary Mathias, Carolyn M. Millar, Amit Nathwani, Marguerite Neerman-Arbez, Alan T. Nurden, Paquita Nurden, Maha Othman, Kathelijne Peerlinck, David J. Perry, Pawan Poudel, Pieter Reitsma, Matthew T. Rondina, Peter A. Smethurst, William Stevenson, Artur Szkotak, Salih Tuna, Christel van Geet, Deborah Whitehorn, David A. Wilcox, Bin Zhang, Shoshana Revel-Vilk, Paolo Gresele, Daniel B. Bellissimo, Christopher J. Penkett, Michael A. Laffan, Andrew D. Mumford, Augusto Rendon, Keith Gomez, Kathleen Freson, Willem H. Ouwehand, Ernest Turro

Blood (2016) 127 (23): 2791–2803.

https://doi.org/10.1182/blood-2015-12-688267

Published: 2016

Includes: Supplemental data

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

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 Leukemia in Genetic Subgroups of Congenital Neutropenia (CN): Comparison of Patients with Known Gene Mutations ( ELA2 , HAX1, WASP, G6PC3, p14) .

Cornelia Zeidler, MD, Jean Donadieu, MD, Audrey Anna Bolyard, R.N., B.S., Peter Vandenberghe, MD, PhD, Gusal Pracht, Blandine Beaupain, Ludwig Hoy, Dr.rer.nat., Martin Zimmermann, PhD, Christine Bellanne-Chantelot, Daniel C Link, Christoph Klein, Manuela Germeshausen, PhD, David C. Dale, MD, Karl Welte

Blood (2009) 114 (22): 3597.

https://doi.org/10.1182/blood.V114.22.3597.3597

Published: 2009

Journal Articles

RAS and CSF3R mutations in severe congenital neutropenia

Manuela Germeshausen, Christian P. Kratz, Matthias Ballmaier, Karl Welte

Blood (2009) 114 (16): 3504–3505.

https://doi.org/10.1182/blood-2009-07-232512

Published: 2009

Journal Articles

In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia

Manuela Germeshausen, Karl Welte, Matthias Ballmaier

Blood (2009) 113 (3): 668–670.

https://doi.org/10.1182/blood-2008-09-178087

Published: 2009

Includes: Supplemental data

Journal Articles

A Novel Clinical Syndrome Associating Severe Congenital Neutropenia and Complex Developmental Aberrations Caused by Deficiency of G6PC3

Blood (2008) 112 (11): 5.

https://doi.org/10.1182/blood.V112.11.5.5

Published: 2008

Journal Articles

GATA1 Mutations in Transient Leukemia and Myeloid Leukemia in “Down” Syndrome.

Katarina Reinhardt, PhD, Katarina Boehmer, Jan-Henning Klusmann, MD, Manuela Germeshausen, PhD, Annette Sander, MD, Christine von Neuhoff, MD, Jan Stary, MD, PhD, Heribert Jürgens, MD, PhD, Arnulf Pekrun, MD, PhD, Axel Sauerbrey, MD, PhD, Charlotte M Niemeyer, MD, PhD, Gudrun Fleischhack, MD, PhD, Ursula Creutzig, MD, PhD, Dirk Reinhardt, MD, PhD

Blood (2008) 112 (11): 923.

https://doi.org/10.1182/blood.V112.11.923.923

Published: 2008

Journal Articles

Overexpression of the Differentiation-Defective G-CSF Receptor Isoform IV Is Associated with a High Incidence of Relapses in Childhood Acute Myeloid Leukemia Treated with G-CSF

Stephanie Ehlers, MD, Christin Herbst, Martin Zimmermann, PhD, Nicole Scharn, Manuela Germeshausen, PhD, Claudia Langebrake, PhD, Thomas Lehrnbecher, MD, Jochen Harbott, PhD, Jan Stary, MD, PhD, Michael Dworzak, MD, Ursula Creutzig, MD, Dirk Reinhardt, MD, PhD

Blood (2008) 112 (11): 2528.

https://doi.org/10.1182/blood.V112.11.2528.2528

Published: 2008

Journal Articles

Risk of Leukemia in Genetic Subgroups of Congenital Neutropenia (CN): Comparison of Patients with Mutations in HAX1 or ELA2

Cornelia Zeidler, MD, Jean Donadieu, MD, Gusal Pracht, Blandine Beaupain, Ludwig Hoy, PhD, Martin Zimmermann, PhD, Christine Bellanne-Chantelot, Christoph Klein, Manuela Germeshausen, Karl Welte

Blood (2008) 112 (11): 2532.

https://doi.org/10.1182/blood.V112.11.2532.2532

Published: 2008

Journal Articles

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

Manuela Germeshausen, Magda Grudzien, Cornelia Zeidler, Hengameh Abdollahpour, Sevgi Yetgin, Nima Rezaei, Matthias Ballmaier, Bodo Grimbacher, Karl Welte, Christoph Klein

Blood (2008) 111 (10): 4954–4957.

https://doi.org/10.1182/blood-2007-11-120667

Published: 2008

Journal Articles

Serial Analysis of Hematopoietic Progenitors in Mpl −/− Mice.

Janet Kaffanke, PhD, Manuela Germeshausen, PhD, Karl Welte, MD, Matthias Ballmaier, PhD

Blood (2007) 110 (11): 2100.

https://doi.org/10.1182/blood.V110.11.2100.2100

Published: 2007

Journal Articles

In Vivo Growth Advantage of Cells Expressing Acquired CSF3R Mutations in Patients with Severe Congenital Neutropenia.

Manuela Germeshausen, PhD, Matthias Ballmaier, PhD, Karl Welte, MD

Blood (2007) 110 (11): 3296.

https://doi.org/10.1182/blood.V110.11.3296.3296

Published: 2007

Journal Articles

Defective Expression of Neutrophil Serine Proteases in Myeloid Progenitors of Congenital Neutropenia Patients Carrying Either ELA2 or HAX1 Mutations.

Julia Skokowa, MD, PhD, John-Paul Fobiwe, Dan Lan, Manuela Germeshausen, PhD, Karl Welte, MD PhD

Blood (2007) 110 (11): 3299.

https://doi.org/10.1182/blood.V110.11.3299.3299

Published: 2007

Journal Articles

Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey

Manuela Germeshausen, Matthias Ballmaier, Karl Welte

Blood (2006) 109 (1): 93–99.

https://doi.org/10.1182/blood-2006-02-004275

Published: 2006

Includes: Supplemental data

Journal Articles

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

Inga Köllner, Beate Sodeik, Sabine Schreek, Holger Heyn, Nils von Neuhoff, Manuela Germeshausen, Cornelia Zeidler, Martin Krüger, Brigitte Schlegelberger, Karl Welte, Carmela Beger

Blood (2006) 108 (2): 493–500.

https://doi.org/10.1182/blood-2005-11-4689

Published: 2006

Includes: Supplemental data

Journal Articles

c-mpl Mutations in Congenital Amegakaryocytic Thrombocytopenia: Residual TPO Receptor Activity in Patients of Group CAMT II.

Matthias Ballmaier, PhD, Karl Welte, MD, Manuela Germeshausen, PhD

Blood (2005) 106 (11): 2157.

https://doi.org/10.1182/blood.V106.11.2157.2157

Published: 2005

Journal Articles

RAS and G-CSF Receptor Mutations Are Mutually Exclusive in Leukemogenesis in Severe Congenital Neutropenia.

Manuela Germeshausen, PhD, Chris Kratz, MD, Matthias Ballmaier, PhD, Kevin M. Shannon, MD, Karl Welte, MD

Blood (2005) 106 (11): 3073.

https://doi.org/10.1182/blood.V106.11.3073.3073

Published: 2005

Journal Articles

Mutations in the Gene of Neutrophil Elastase Associated with Congenital Neutropenia Lead to Alteration of Intracellular Trafficking and Proteolytic Function of NE Protein.

Carmela Beger, MD, Inga Koellner, Cornelia Zeidler, MD, Manuela Germeshausen, PhD, Nils von Neuhoff, PhD, Brigitte Schlegelberger, MD, PhD, Karl Welte, MD, PhD

Blood (2004) 104 (11): 780.

https://doi.org/10.1182/blood.V104.11.780.780

Published: 2004

Journal Articles

Congenital Amegakaryocytic Thrombocytopenia (CAMT): A Detailed Clinical Analysis of 21 Cases Reveals Different Types of CAMT.

Stephanie King, Manuela Germeshausen, Gabriele Strauss, Karl Welte, Matthias Ballmaier

Blood (2004) 104 (11): 740.

https://doi.org/10.1182/blood.V104.11.740.740

Published: 2004

NARROW

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

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

Neutrophil Extracellular Traps (NETs) in Patients with Congenital Neutropenia

Update On the Risk of Leukemia in Genetic Subgroups of Congenital Neutropenia (CN): Comparison of Patients with Known Gene Mutations ( ELA2 , HAX1, WASP, G6PC3, p14) .

RAS and CSF3R mutations in severe congenital neutropenia

In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia

A Novel Clinical Syndrome Associating Severe Congenital Neutropenia and Complex Developmental Aberrations Caused by Deficiency of G6PC3

GATA1 Mutations in Transient Leukemia and Myeloid Leukemia in “Down” Syndrome.

Overexpression of the Differentiation-Defective G-CSF Receptor Isoform IV Is Associated with a High Incidence of Relapses in Childhood Acute Myeloid Leukemia Treated with G-CSF

Risk of Leukemia in Genetic Subgroups of Congenital Neutropenia (CN): Comparison of Patients with Mutations in HAX1 or ELA2

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

Serial Analysis of Hematopoietic Progenitors in Mpl −/− Mice.

In Vivo Growth Advantage of Cells Expressing Acquired CSF3R Mutations in Patients with Severe Congenital Neutropenia.

Defective Expression of Neutrophil Serine Proteases in Myeloid Progenitors of Congenital Neutropenia Patients Carrying Either ELA2 or HAX1 Mutations.

Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

c-mpl Mutations in Congenital Amegakaryocytic Thrombocytopenia: Residual TPO Receptor Activity in Patients of Group CAMT II.

RAS and G-CSF Receptor Mutations Are Mutually Exclusive in Leukemogenesis in Severe Congenital Neutropenia.

Mutations in the Gene of Neutrophil Elastase Associated with Congenital Neutropenia Lead to Alteration of Intracellular Trafficking and Proteolytic Function of NE Protein.

Congenital Amegakaryocytic Thrombocytopenia (CAMT): A Detailed Clinical Analysis of 21 Cases Reveals Different Types of CAMT.

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American Society of Hematology

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American Society of Hematology

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