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Journal Articles

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

Sebastian Hesse, MD, Christoph Klein, MD PhD, Rappsilber Juri, Prof., Yoko Mizoguchi, Monika Linder, PhD, Piotr Grabowski, PhD, Zahra Alizadeh, PhD, Zahra Pourpak, MD PhD, Nima Rezaei, MD PhD, Sorin Iurian, MD PhD, Ekrem Unal, MD, Fabian Hauck, MD PhD, Ralf Zimmer, Prof., Gergely Csaba, PhD

Blood (2019) 134 (Supplement_1): 3580.

https://doi.org/10.1182/blood-2019-131136

Published: 2019

Journal Articles

Necessity of Smc3 in Embryonic and Adult Hematopoiesis with an Emphasis on Myeloid Compartment

Tianjiao Wang, John S. Welch, MD PhD

Blood (2017) 130 (Supplement 1): 470.

https://doi.org/10.1182/blood.V130.Suppl_1.470.470

Published: 2017

Journal Articles

A Knowledge-Based Approach for Clinical Annotation of Oncogenic Variants to Support Patient-Tailored Diagnosis in Myeloid Disease

Blood (2017) 130 (Supplement 1): 1414.

https://doi.org/10.1182/blood.V130.Suppl_1.1414.1414

Published: 2017

Journal Articles

Smc3 Haploinsufficiency and Smc3 Deletion Alter Hematopoiesis In Vivo

Tianjiao Wang, John S. Welch

Blood (2016) 128 (22): 2903.

https://doi.org/10.1182/blood.V128.22.2903.2903

Published: 2016

Journal Articles

Molecular Basis of Von Willebrand Disease in Patients from India

Sumitha Elayaperumal, M.Sc, Eunice Sindhuvi Edison, PhD, Sankari Devi Govindanattar, B.Sc, Surendar Singh, B.Sc, Aby Abraham, MD DM, Biju George, DM, Auro Viswabandya, MD DM, Sukesh Nair, MD FRCPA, Alok Srivastava, MD FRACP

Blood (2015) 126 (23): 1102.

https://doi.org/10.1182/blood.V126.23.1102.1102

Published: 2015

Journal Articles

Molecular Genetics Analysis of Von Williebrand Disease: Studies in Cohort Pakistani Patients

Shariq Ahmed, BS, Arshi Naz, MSc.PhD, Hamideh Yadegari, Julia Driesen, Tahir Shamsi, MBBS, MRCPath,FRCPath, Nisar Ahmed, FCPS haematology, Shahla Tariq, M.B;B.S, Samina Tufail Amanat, FCPS, MB, BS, fazal-E- Razik, Mohammad Nadeem, M.B;B.D, FCPS, Johannes Oldenburg

Blood (2015) 126 (23): 4689.

https://doi.org/10.1182/blood.V126.23.4689.4689

Published: 2015

Journal Articles

A Novel Splice Site Mutation in the 5'UTR of GATA1 resulting in Abnormal Hematopoiesis

Jacob Zucker, MD, Constance Temm, Magdalena Czader, MD PhD, Grzegorz Nalepa, MDPhD

Blood (2015) 126 (23): 3620.

https://doi.org/10.1182/blood.V126.23.3620.3620

Published: 2015

Journal Articles

Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants

Blood (2015) 126 (23): 3337.

https://doi.org/10.1182/blood.V126.23.3337.3337

Published: 2015

Journal Articles

Domain Distribution of Type 1 VWD Sequence Variants and Impact on Clinical and Laboratory Phenotype in the Zimmerman Program

Pamela A Christopherson, Veronica H Flood, MD, Sandra L Haberichter, PhD, Daniel B Bellissimo, PhD, Kenneth D Friedman, MD, Joan Cox Gill, MD, Rupa A Udani, PhD, Robert R Montgomery, MD

Blood (2015) 126 (23): 758.

https://doi.org/10.1182/blood.V126.23.758.758

Published: 2015

Journal Articles

ZRSR2 Mutations Cause Dysregulated RNA Splicing in MDS

Vikas Madan, PhD, Deepika Kanojia, PhD, Li Jia, Ryoko Okamoto, PhD, Aiko Sato-Otsubo, Alexander Kohlmann, PhD, Masashi Sanada, MD PhD, Vera Grossmann, Janani Sundaresan, Yuichi Shiraishi, PhD, Satoru Miyano, PhD, Felicitas Thol, MD, Arnold Ganser, Henry Yang, PhD, Torsten Haferlach, Seishi Ogawa, MD PhD, H. Phillip Koeffler

Blood (2014) 124 (21): 4609.

https://doi.org/10.1182/blood.V124.21.4609.4609

Published: 2014

Journal Articles

ARID1A Is Recurrently and Significantly Mutated in Follicular Lymphoma (FL) and Impairs DNA Repair Efficiency

Deepak Bararia, PhD, Michael Heide, Tatiana Romashova, Pastore Alessandro, MD, Boris G. Wilson, PhD, Charles W.M. Roberts, MD PhD, Wolfgang Hiddemann, MD PhD, David M. Weinstock, MD, Oliver Weigert, MD

Blood (2014) 124 (21): 73.

https://doi.org/10.1182/blood.V124.21.73.73

Published: 2014

Journal Articles

Somatic Mutations and Loss-Of-Heterozygosity Impair The DNA Repair Functions Of CUX1 in Myelodysplastic Syndromes (MDS)

Naoko Hosono, MD, PhD, Zubaidah M Ramdzan, PhD, Ranjana Pal, PhD, Hideki Makishima, MD, PhD, Bartlomiej P Przychodzen, PhD, Mikkael A. Sekeres, MD, MS, Kenichi Yoshida, MD, Yuichi Shiraishi, PhD, Satoru Miyano, PhD, Seishi Ogawa, MD, PhD, Alain Nepveu, PhD, Jaroslaw P. Maciejewski, MD, PhD

Blood (2013) 122 (21): 1246.

https://doi.org/10.1182/blood.V122.21.1246.1246

Published: 2013

Journal Articles

The Presence Of Leukemogenic Mutational Events In Paroxysmal Nocturnal Hemoglobinuria Suggests That Clonal Architecture Of Bone Marrow Failure Is Similar To Myelodysplastic Syndrome

Wenyi Shen, MD, Bartlomiej P. Przychodzen, PhD, Michael J. Clemente, Brittney Dienes, Tetsuichi Yoshisato, Masashi Sanada, MD, PhD, Kenichi Yoshida, MD, Seishi Ogawa, MD, PhD, Jaroslaw P. Maciejewski, MD, PhD, Hideki Makishima, MD, PhD

Blood (2013) 122 (21): 804.

https://doi.org/10.1182/blood.V122.21.804.804

Published: 2013

Journal Articles

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT

Peter M. Krawitz, Britta Höchsmann, Yoshiko Murakami, Britta Teubner, Ulrike Krüger, Eva Klopocki, Heidemarie Neitzel, Alexander Hoellein, Christina Schneider, Dmitri Parkhomchuk, Jochen Hecht, Peter N. Robinson, Stefan Mundlos, Taroh Kinoshita, Hubert Schrezenmeier

Blood (2013) 122 (7): 1312–1315.

https://doi.org/10.1182/blood-2013-01-481499

Published: 2013

Includes: Supplemental data

Journal Articles

Clinically Significant Mutations, Deletions and Translocations Involving ETV6 Identified by Whole Genome and Whole Exome Sequencing; Report From NCI/COG Target AML Initiative

Heather L. Helton, MD, Rhonda E. Ries, MA, Todd A. Alonzo, PhD, Robert B. Gerbing, M.A., Lisa R. Trevino, PhD, Jason Farrar, M.D., Jaime M. Guidry Auvil, Ph.D., Tanja M. Davidsen, PhD, Patee Gesuwan, Ph.D., Donna M. Muzny, Alan S. Gamis, MD, MPH, Janet Franklin, MD, MPH, David A. Wheeler, PhD, Malcolm A. Smith, MD, PhD, Daniela S. Gerhard, Ph.D., Robert J. Arceci, MD, PhD, Soheil Meshinchi, MD, PhD

Blood (2012) 120 (21): 125.

https://doi.org/10.1182/blood.V120.21.125.125

Published: 2012

Journal Articles

Whole Genome Sequence Analysis of Primary Myelofibrosis.

Jason D. Merker, Krishna Roskin, Dana Ng, Cuiping Pan, Dianna G. Fisk, Carol D. Jones, Linda Gojenola, Michael J. Clark, Bing Zhang, Michael Cherry, Michael Snyder, Scott D. Boyd, James L. Zehnder, Andrew Z. Fire, Jason Gotlib

Blood (2012) 120 (21): 2863.

https://doi.org/10.1182/blood.V120.21.2863.2863

Published: 2012

Journal Articles

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

Blood (2012) 119 (25): 6016–6024.

https://doi.org/10.1182/blood-2011-12-398958

Published: 2012

Includes: Supplemental data

Journal Articles

F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis

Samantha C. Gouw, H. Marijke van den Berg, Johannes Oldenburg, Jan Astermark, Philip G. de Groot, Maurizio Margaglione, Arthur R. Thompson, Waander van Heerde, Jorien Boekhorst, Connie H. Miller, Saskia le Cessie, Johanna G. van der Bom

Blood (2012) 119 (12): 2922–2934.

https://doi.org/10.1182/blood-2011-09-379453

Published: 2012

Includes: Supplemental data

Journal Articles

Landmark Analyses of DNMT3A Mutations in Hematological Malignancies

Vera Grossmann, MSc, Alexander Kohlmann, PhD, Claudia Haferlach, MD, Tamara Alpermann, Melanie Wild, Sandra Weissmann, PhD, Christiane Eder, PhD, Frank Dicker, PhD, Wolfgang Kern, MD, Susanne Schnittger, PhD, Torsten Haferlach, MD

Blood (2011) 118 (21): 407.

https://doi.org/10.1182/blood.V118.21.407.407

Published: 2011

Journal Articles

DNMT3A Mutations in Acute Myeloid Leukemia

Timothy J. Ley, MD, on behalf of Genomics of AML Program Project Grant

Blood (2011) 118 (21): SCI-31.

https://doi.org/10.1182/blood.V118.21.SCI-31.SCI-31

Published: 2011

NARROW

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

Necessity of Smc3 in Embryonic and Adult Hematopoiesis with an Emphasis on Myeloid Compartment

A Knowledge-Based Approach for Clinical Annotation of Oncogenic Variants to Support Patient-Tailored Diagnosis in Myeloid Disease

Smc3 Haploinsufficiency and Smc3 Deletion Alter Hematopoiesis In Vivo

Molecular Basis of Von Willebrand Disease in Patients from India

Molecular Genetics Analysis of Von Williebrand Disease: Studies in Cohort Pakistani Patients

A Novel Splice Site Mutation in the 5'UTR of GATA1 resulting in Abnormal Hematopoiesis

Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants

Domain Distribution of Type 1 VWD Sequence Variants and Impact on Clinical and Laboratory Phenotype in the Zimmerman Program

ZRSR2 Mutations Cause Dysregulated RNA Splicing in MDS

ARID1A Is Recurrently and Significantly Mutated in Follicular Lymphoma (FL) and Impairs DNA Repair Efficiency

Somatic Mutations and Loss-Of-Heterozygosity Impair The DNA Repair Functions Of CUX1 in Myelodysplastic Syndromes (MDS)

The Presence Of Leukemogenic Mutational Events In Paroxysmal Nocturnal Hemoglobinuria Suggests That Clonal Architecture Of Bone Marrow Failure Is Similar To Myelodysplastic Syndrome

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT

Clinically Significant Mutations, Deletions and Translocations Involving ETV6 Identified by Whole Genome and Whole Exome Sequencing; Report From NCI/COG Target AML Initiative

Whole Genome Sequence Analysis of Primary Myelofibrosis.

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis

Landmark Analyses of DNMT3A Mutations in Hematological Malignancies

DNMT3A Mutations in Acute Myeloid Leukemia

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American Society of Hematology

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ASH Publications

American Society of Hematology

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