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Journal Articles

A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing

Claudia Wehr, Katja Grotius, Silvia Casadei, Dorothee Bleckmann, Sebastian F. N. Bode, Björn C. Frye, Maximilian Seidl, Suleyman Gulsuner, Mary-Claire King, Mary-Beth Percival, Colin C. Pritchard, Tom Walsh, David Wu, Siobán Keel, Ulrich Salzer

Blood (2018) 132 (11): 1211–1215.

https://doi.org/10.1182/blood-2018-03-837336

Published: 2018

Includes: Supplemental data

Journal Articles

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin

Blood (2017) 130 (7): 875–880.

https://doi.org/10.1182/blood-2017-02-768036

Published: 2017

Includes: Supplemental data

Journal Articles

Detection of Mutations in Inherited Bone Marrow Failure and Myelodysplastic Syndrome Genes Using Genomic Capture and Massively Parallel Sequencing in Clinical Diagnostics

Siobán B. Keel, MD, Tom Walsh, PhD, Colin Pritchard, MD, Akiko Shimamura, MD PhD, Mary-Claire King, PhD, David Wu, MD PhD

Blood (2016) 128 (22): 1507.

https://doi.org/10.1182/blood.V128.22.1507.1507

Published: 2016

Journal Articles

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Blood (2016) 127 (8): 1017–1023.

https://doi.org/10.1182/blood-2015-10-676098

Published: 2016

Includes: Supplemental data

Journal Articles

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy

Katarzyna Rojek, BS, Eric Nickels, Barbara Niestadt, Rafael Marquez, Amittha Wickrema, PhD, Andrew Artz, MD MS, Koen van Besien, MD, Ming K Lee, Jeremy P. Segal, MD PhD, Mary-Claire King, Tom Walsh, Akiko Shimamura, MD PhD, Sioban Keel, MD, Jane E Churpek, MD, Lucy A Godley, MD PhD

Blood (2015) 126 (23): 3163.

https://doi.org/10.1182/blood.V126.23.3163.3163

Published: 2015

Journal Articles

Comprehensive Genomic Evaluation For Inherited Bone Marrow Failure/Myelodysplastic Syndromes

Michael Zhang, Siobán B. Keel, MD, Tom Walsh, PhD, Ming Lee, Pritchard Colin, MD, PhD, Michael Jeng, MD, Amanda Watts, Janis L. Abkowitz, MD, Mary-Claire King, PhD, Akiko Shimamura, MD, PhD

Blood (2013) 122 (21): 592.

https://doi.org/10.1182/blood.V122.21.592.592

Published: 2013

Journal Articles

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Blood (2012) 119 (5): 1283–1291.

https://doi.org/10.1182/blood-2011-08-374363

Published: 2012

Includes: Supplemental data

NARROW

A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin

Detection of Mutations in Inherited Bone Marrow Failure and Myelodysplastic Syndrome Genes Using Genomic Capture and Massively Parallel Sequencing in Clinical Diagnostics

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy

Comprehensive Genomic Evaluation For Inherited Bone Marrow Failure/Myelodysplastic Syndromes

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Email alerts

ASH Publications

American Society of Hematology

A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin

Detection of Mutations in Inherited Bone Marrow Failure and Myelodysplastic Syndrome Genes Using Genomic Capture and Massively Parallel Sequencing in Clinical Diagnostics

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy

Comprehensive Genomic Evaluation For Inherited Bone Marrow Failure/Myelodysplastic Syndromes

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Email alerts

ASH Publications

American Society of Hematology

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