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Journal Articles

Results from the Aurora Study: A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin in Erythropoietic Protoporphyria

Amy Dickey, Sioban Keel, Herbert L Bonkovsky, Karl Anderson, Manisha Balwani, Cynthia Levy, Manish Thapar, Bruce Wang, Brendan McGuire, Will Savage

Blood (2024) 144 (Supplement 1): 1089.

https://doi.org/10.1182/blood-2024-203503

Published: 2024

Journal Articles

CD74 Signaling Regulates Inflammatory Stress to Drive Defective Hematopoiesis and Fitness Advantage of Progenitors in RUNX1-Familial Platelet Disorder

Blood (2024) 144 (Supplement 1): 198.

https://doi.org/10.1182/blood-2024-211542

Published: 2024

Journal Articles

iPSC Reprogramming Identifies the Role of Cryptic Drivers in Preleukemic Clonal Evolution

Blood (2024) 144 (Supplement 1): 1293.

https://doi.org/10.1182/blood-2024-205098

Published: 2024

Journal Articles

RNA interference therapy in acute hepatic porphyrias

Makiko Yasuda, Siobán Keel, Manisha Balwani

Blood (2023) 142 (19): 1589–1599.

https://doi.org/10.1182/blood.2022018662

Published: 2023

Includes: Supplemental data

Journal Articles

Interplay between Inflammatory Microenvironment and RUNX1-Mediated Transcriptomic Changes Drives Defective Hematopoiesis in Familial Platelet Disorder

Blood (2023) 142 (Supplement 1): 945.

https://doi.org/10.1182/blood-2023-187750

Published: 2023

Journal Articles

Eighteen-Month Interim Analysis of Efficacy and Safety of Givosiran, an RNAi Therapeutic for Acute Hepatic Porphyria, in the Envision Open Label Extension

David J. Kuter, MD, Sioban Keel, MD, Charles J. Parker, MD, David C. Rees, MD, Ulrich Stölzel, MD, Paolo Ventura, MD, Manisha Balwani, Laurent Gouya, MD, PhD, Amy Simon, MD, Shangbin Liu, PhD, John J Ko, PharmD,MSc, Sean Rhyee, MD, M.P.H, Samuel M. Silver, MD PhD

Blood (2020) 136 (Supplement 1): 13.

https://doi.org/10.1182/blood-2020-134564

Published: 2020

Journal Articles

Multiparameter Flow Cytometry (MFC) of Cerebrospinal Fluid (CSF) from Adults Receiving Hypercvad for Acute Lymphoblastic Leukemia/Lymphoma (ALL) Identifies Patients at Higher Risk of Central Nervous System (CNS) Relapse: A Single-Center Retrospective Analysis

Kelsey-Leigh A Garcia, Philip A. Stevenson, MS, Sindhu Cherian, MD, Christen N. Martino, NP, Andrei R Shustov, MD, Pamela S. Becker, MDPhD, Mary-Beth M. Percival, MD, Vivian G. Oehler, MD, Anna B. Halpern, MD, Roland P Walter, MDPhD, Johnnie Orozco, MD, Colin D. Godwin, MDMPhil, Sioban Keel, MD, Elihu H. Estey, MD, Ryan D. Cassaday, MD

Blood (2020) 136 (Supplement 1): 28–30.

https://doi.org/10.1182/blood-2020-137780

Published: 2020

Journal Articles

Comparative Analysis of Patterns of Infectious Complications of Outpatient Vs. Inpatient Care Following Intensive Induction Chemotherapy for Adults with Acute Myeloid Leukemia (AML) or Other High-Grade Myeloid Neoplasms

Anna B. Halpern, MD, Nicholas P Howard, Megan Othus, PhD, Paul C. Hendrie, MD PhD, Nikita Vashi Baclig, MD MPH, Sarah A Buckley, MD, Mary-Elizabeth M. Percival, MD, Pamela S. Becker, MD PhD, Bart L. Scott, MD, Vivian G. Oehler, MD, Terry B. Gernsheimer, MD, Sioban Keel, MD, Johnnie Orozco, MD, Ryan D. Cassaday, MD, Andrei R Shustov, MD, Garrett Hartley, Verna L Welch, PhD MPH, Elihu H. Estey, MD, Roland B. Walter, MD PhD MS

Blood (2019) 134 (Supplement_1): 1323.

https://doi.org/10.1182/blood-2019-123605

Published: 2019

Journal Articles

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

Blood (2018) 132 (Supplement 1): 5849.

https://doi.org/10.1182/blood-2018-99-118979

Published: 2018

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

MDS and AML in Shwachman-Diamond Syndrome: Clinical Features and Outcomes

Blood (2017) 130 (Supplement 1): 1177.

https://doi.org/10.1182/blood.V130.Suppl_1.1177.1177

Published: 2017

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

The North American Shwachman-Diamond Syndrome Registry: Genetically Undefined Shwachman-Diamond Syndrome

Kasiani C. Myers, MD, Audrey Anna Bolyard, RN, BS, Jamie Leung, Joan Moore, Sara Loveless, Leann Mount, Richard E. Harris, MD, Stella M. Davies, MBBS, PhD, Sioban Keel, MD, David C. Dale, MD, Akiko Shimamura, MD PhD

Blood (2015) 126 (23): 3614.

https://doi.org/10.1182/blood.V126.23.3614.3614

Published: 2015

Journal Articles

Genetics in Inherited Bone Marrow Failure Disorders

Sioban Keel, MD

Blood (2015) 126 (23): SCI-1.

https://doi.org/10.1182/blood.V126.23.SCI-1.SCI-1

Published: 2015

NARROW

Results from the Aurora Study: A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin in Erythropoietic Protoporphyria

CD74 Signaling Regulates Inflammatory Stress to Drive Defective Hematopoiesis and Fitness Advantage of Progenitors in RUNX1-Familial Platelet Disorder

iPSC Reprogramming Identifies the Role of Cryptic Drivers in Preleukemic Clonal Evolution

RNA interference therapy in acute hepatic porphyrias

Interplay between Inflammatory Microenvironment and RUNX1-Mediated Transcriptomic Changes Drives Defective Hematopoiesis in Familial Platelet Disorder

Eighteen-Month Interim Analysis of Efficacy and Safety of Givosiran, an RNAi Therapeutic for Acute Hepatic Porphyria, in the Envision Open Label Extension

Multiparameter Flow Cytometry (MFC) of Cerebrospinal Fluid (CSF) from Adults Receiving Hypercvad for Acute Lymphoblastic Leukemia/Lymphoma (ALL) Identifies Patients at Higher Risk of Central Nervous System (CNS) Relapse: A Single-Center Retrospective Analysis

Comparative Analysis of Patterns of Infectious Complications of Outpatient Vs. Inpatient Care Following Intensive Induction Chemotherapy for Adults with Acute Myeloid Leukemia (AML) or Other High-Grade Myeloid Neoplasms

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

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

MDS and AML in Shwachman-Diamond Syndrome: Clinical Features and Outcomes

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

The North American Shwachman-Diamond Syndrome Registry: Genetically Undefined Shwachman-Diamond Syndrome

Genetics in Inherited Bone Marrow Failure Disorders

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