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Journal Articles

Deletion of efl1 in Zebrafish Recapitulates the Spectrum of Shwachman-Diamond Syndrome

Nozomu Kawashima, Rebecca Anderson, Seth J. Corey, Usua Oyarbide Cuervas-Mons

Blood (2022) 140 (Supplement 1): 2597–2598.

DOI: https://doi.org/10.1182/blood-2022-163748

Published: 2022

Journal Articles

ANKRD26 Coding Variants in Myeloid Neoplasia

Teodora Kuzmanovic, Metis Hasipek, Samuel Li, Thomas Laframboise, Valeria Visconte, Sunisa Kongkiatkamon, Seth J. Corey, Sudipto Mukherjee, Anjali Advani, Aaron T. Gerds, Yogenthiran Saunthararajah, Sophia R. Balderman, Abhay Singh Singh, Hetty E. Carraway, Niroshan Nadarajah, Manja Meggendorfer, Jaroslaw P. Maciejewski, Bhumika J. Patel

Blood (2022) 140 (Supplement 1): 4013–4015.

DOI: https://doi.org/10.1182/blood-2022-170645

Published: 2022

Journal Articles

No Cardiomyopathy or Skeletal Muscle Weakness in an Organismal Model of Barth Syndrome - Is Metabolism the Basis for Its Neutropenia?

Usua Oyarbide Cuervas-Mons, Jillian Kodger, Sofia del Rio, Yana Sandlers, Seth J. Corey

Blood (2022) 140 (Supplement 1): 5472.

DOI: https://doi.org/10.1182/blood-2022-162648

Published: 2022

Journal Articles

Deletion of eif6 Partially Rescues Survival, but Not Neutropenia, of Zebrafish Model of Shwachman-Diamond Syndrome: The Roles of Sbds and Eif6 in Perturbing Lipid Metabolism

Usua Oyarbide Cuervas-Mons, Valentino Bezzerri, Rebecca Anderson, Christian Boni, Marco Cipolli, Matthew Snyderman, Seth J. Corey

Blood (2022) 140 (Supplement 1): 1407.

DOI: https://doi.org/10.1182/blood-2022-163462

Published: 2022

Journal Articles

MDS-Associated Splicing Factor Mutations Promote Alternative Splicing of a Differentiation-Impaired CSF3R Isoform

Borwyn Wang, Hrishikesh M Mehta, Seth J. Corey

Blood (2021) 138 (Supplement 1): 3128.

DOI: https://doi.org/10.1182/blood-2021-153285

Published: 2021

Journal Articles

Germline and Somatic Variants of CSF3R Define Distinct Myeloid Neoplasia Syndromes

Tariq Kewan, Hrishikesh M Mehta, Carmelo Gurnari, Waled Bahaj, Simona Pagliuca, Suresh Kumar Balasubramanian, Bhumika J. Patel, Anjali Advani, Valeria Visconte, Hetty E. Carraway, Seth J. Corey, Jaroslaw P. Maciejewski

Blood (2021) 138 (Supplement 1): 3667.

DOI: https://doi.org/10.1182/blood-2021-152546

Published: 2021

Journal Articles

Lymphocyte Cytosolic Protein 1 I232F Mutation Impairs Granulocytic Proliferation with a G2/M Block in Severe Neutropenia

Upendra Mahat, Bhavuk Garg, Hrishikesh M Mehta, Heesun J. Rogers, Andrei Ivanov, Chao-Yie Yang, Aron Flagg, Seth J. Corey

Blood (2021) 138 (Supplement 1): 434.

DOI: https://doi.org/10.1182/blood-2021-152781

Published: 2021

Journal Articles

Dynamin-2 Deficiency Causes Neutropenia and Dysplastic Bone Marrow Changes in an Age and Sex Dependent Manner in Mice

Alexander Willis, Seth J. Corey, Carlos A. Murga-Zamalloa, Saman Karimi, Karam Khaddour, Elizabeth A. Eklund, Yolande Chen

Blood (2021) 138 (Supplement 1): 992.

DOI: https://doi.org/10.1182/blood-2021-154010

Published: 2021

Journal Articles

Impact of Pathogenic Germ Line Variants in Adults with Acquired Bone Marrow Failure Syndromes Vs . Myeloid Neoplasia

Misam Zawit, MBBS, Jibran Durrani, MD, Wenyi Shen, MD, Vera Adema, PhD, Cassandra M Kerr, MS, Hassan Awada, MD, Sunisa Kongkiatkamon, MD, Carmelo Gurnari, MD, Simona Pagliuca, MD, Laila Terkawi, Bhumika J. Patel, MD, Valeria Visconte, PhD, Hetty E. Carraway, MD MBA, Thomas LaFramboise, PhD, Seth J. Corey, MD, Torsten Haferlach, MD, Jaroslaw P. Maciejewski, MD PhD

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

DOI: https://doi.org/10.1182/blood-2020-142586

Published: 2020

Journal Articles

The Genomic Landscape of Myeloid Neoplasms Evolved from AA/PNH

Carmelo Gurnari, MD, Simona Pagliuca, MD, Bhumika J. Patel, MD, Hassan Awada, MD, Cassandra M Kerr, MS, Wenyi Shen, MD, Sunisa Kongkiatkamon, MD, Laila Terkawi, Misam Zawit, MBBS, Jibran Durrani, MD, Valeria Visconte, PhD, Seth J. Corey, MD, Maria Teresa Voso, MD, Hetty E. Carraway, MD MBA, Jaroslaw P. Maciejewski, MD PhD

Blood (2020) 136 (Supplement 1): 2.

DOI: https://doi.org/10.1182/blood-2020-140045

Published: 2020

Journal Articles

FA Gene Carrier Status Predisposes to Myeloid Neoplasms and Bone Marrow Failure in Adults

Jibran Durrani, Hassan Awada, MD, Wenyi Shen, MD, Cassandra M Kerr, MS, Vera Adema, PhD, Sunisa Kongkiatkamon, Ashwin Kishtagari, MBBS, Samuel Li, Yasunobu Nagata, MD PhD, Sanghee Hong, MD, Aziz Nazha, MD, Bhumika J. Patel, MD, Yogenthiran Saunthararajah, MD, Hetty E. Carraway, MD MBA, Valeria Visconte, PhD, Seth J. Corey, MD, Mikkael A. Sekeres, MD MS, Thomas Laframboise, PhD, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 452.

DOI: https://doi.org/10.1182/blood-2019-130142

Published: 2019

Journal Articles

ANKRD26 Coding Variants Presenting with Giant Platelets and a Predisposition to Myeloid Neoplasia

Teodora Kuzmanovic, Bhumika J. Patel, MD, Jibran Durrani, Hassan Awada, MD, Cassandra M Kerr, MS, Bartlomiej P. Przychodzen, Samuel Li, BA, Seth J. Corey, MD, Sudipto Mukherjee, MD PhD MPH, Anjali S. Advani, MD, Aziz Nazha, MD, Aaron T. Gerds, MD MS, Hetty E. Carraway, MD MBA, Thomas Laframboise, PhD, Mikkael A. Sekeres, MD MS, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 4233.

DOI: https://doi.org/10.1182/blood-2019-130520

Published: 2019

Journal Articles

Expression of Human SBDS R126T in S bds Null Background Shows Eif6 Dysregulation: An Adult Zebrafish Model for Shwachman-Diamond Syndrome

Usua Oyarbide Cuervas-Mons, PhD MSc, BSc, Matthew Snyderman, MSc, Jacek Topczewski, PhD, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 3737.

DOI: https://doi.org/10.1182/blood-2019-129014

Published: 2019

Journal Articles

Predicting Minimal Residual Disease in Acute Myeloid Leukemia through Stochastic Modeling of Clonality

Khanh Dinh, Roman Jaksik, PhD, Marek Kimmel, PhD DSc, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 1448.

DOI: https://doi.org/10.1182/blood-2019-127457

Published: 2019

Journal Articles

Effect of the Unfolded Protein Response and Oxidative Stress on Mutagenesis of CSF3R a Model of Evolution of Severe Congenital Neutropenia to Myelodysplastic Syndrome/Acute Myeloid Leukemia

Adya Sapra, MS, Roman Jaksik, PhD, Sara Biesiadny, Hrishikesh M Mehta, PhD, Marek Kimmel, PhD DSc, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 3752.

DOI: https://doi.org/10.1182/blood-2019-127401

Published: 2019

Journal Articles

Inducible Expression of Mutant ELANE Correlates with Disruption of Differentiation Program, but Not the Unfolded Protein Response

Bhavuk Garg, PhD, Hrishikesh M Mehta, PhD, Ralph Kamel, Marshall S. Horwitz, MD PhD, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 103.

DOI: https://doi.org/10.1182/blood-2019-127409

Published: 2019

Journal Articles

Molecular Spectrum of CSF3R variants Correlate with Specific Myeloid Malignancies and Secondary Mutations

Vera Adema, PhD, Cassandra M. Hirsch, Bartlomiej Przychodzen, Yasunobu Nagata, Tomas Radivoyevitch, Thomas Laframboise, PhD, Amy C Graham, BS, MS, Louis Williams, MD MBA, Hassan Awada, MD, Aziz Nazha, Hetty E. Carraway, MD MBA, Valeria Santini, Hrishikesh M Mehta, PhD, Francesc Sole, PhD, Mikkael A. Sekeres, MD MS, Valeria Visconte, PhD, Rabi Hanna, MD, Seth J. Corey, MD, Jaroslaw P. Maciejewski

Blood (2018) 132 (Supplement 1): 4389.

DOI: https://doi.org/10.1182/blood-2018-99-116554

Published: 2018

Journal Articles

Dynamins 2 and 3 Are Required for Human Megakaryocytes Directional Migration

Praveen K Suraneni, PhD, Seth J. Corey, MD, Michael Hession, BS, Rameez Ishaq, Arinola Awomolo, Shirin Hasan, PhD, Najet Debili, PhD, John D. Crispino, PhD MBA, Elizabeth A. Eklund, MD, Yolande Chen, MD

Blood (2018) 132 (Supplement 1): 2429.

DOI: https://doi.org/10.1182/blood-2018-99-118782

Published: 2018

Journal Articles

SRP54 and a need for a new neutropenia nosology

Usua Oyarbide, Seth J. Corey

Blood (2018) 132 (12): 1220–1222.

DOI: https://doi.org/10.1182/blood-2018-07-859959

Published: 2018

Journal Articles

Mutations in the Splicosome Lead to Alternative Splicing of CSF3R in Promoting Myelodysplastic Syndromes

Frances Austin, MD, Hrishikesh M Mehta, PhD, Seth J. Corey, MD MPH, Chonghui Cheng, MD PhD

Blood (2016) 128 (22): 3897.

DOI: https://doi.org/10.1182/blood.V128.22.3897.3897

Published: 2016

NARROW

Deletion of efl1 in Zebrafish Recapitulates the Spectrum of Shwachman-Diamond Syndrome

ANKRD26 Coding Variants in Myeloid Neoplasia

No Cardiomyopathy or Skeletal Muscle Weakness in an Organismal Model of Barth Syndrome - Is Metabolism the Basis for Its Neutropenia?

Deletion of eif6 Partially Rescues Survival, but Not Neutropenia, of Zebrafish Model of Shwachman-Diamond Syndrome: The Roles of Sbds and Eif6 in Perturbing Lipid Metabolism

MDS-Associated Splicing Factor Mutations Promote Alternative Splicing of a Differentiation-Impaired CSF3R Isoform

Germline and Somatic Variants of CSF3R Define Distinct Myeloid Neoplasia Syndromes

Lymphocyte Cytosolic Protein 1 I232F Mutation Impairs Granulocytic Proliferation with a G2/M Block in Severe Neutropenia

Dynamin-2 Deficiency Causes Neutropenia and Dysplastic Bone Marrow Changes in an Age and Sex Dependent Manner in Mice

Impact of Pathogenic Germ Line Variants in Adults with Acquired Bone Marrow Failure Syndromes Vs . Myeloid Neoplasia

The Genomic Landscape of Myeloid Neoplasms Evolved from AA/PNH

FA Gene Carrier Status Predisposes to Myeloid Neoplasms and Bone Marrow Failure in Adults

ANKRD26 Coding Variants Presenting with Giant Platelets and a Predisposition to Myeloid Neoplasia

Expression of Human SBDS R126T in S bds Null Background Shows Eif6 Dysregulation: An Adult Zebrafish Model for Shwachman-Diamond Syndrome

Predicting Minimal Residual Disease in Acute Myeloid Leukemia through Stochastic Modeling of Clonality

Effect of the Unfolded Protein Response and Oxidative Stress on Mutagenesis of CSF3R a Model of Evolution of Severe Congenital Neutropenia to Myelodysplastic Syndrome/Acute Myeloid Leukemia

Inducible Expression of Mutant ELANE Correlates with Disruption of Differentiation Program, but Not the Unfolded Protein Response

Molecular Spectrum of CSF3R variants Correlate with Specific Myeloid Malignancies and Secondary Mutations

Dynamins 2 and 3 Are Required for Human Megakaryocytes Directional Migration

SRP54 and a need for a new neutropenia nosology

Mutations in the Splicosome Lead to Alternative Splicing of CSF3R in Promoting Myelodysplastic Syndromes

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American Society of Hematology

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