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Journal Articles

Targeting Metabolism to Restore Hematopoiesis in Inherited Bone Marrow Failure Syndromes: Preclinical Insights from Zebrafish Models

Sarada Ketharnathan, Serkan Dogan, Sujata Pokharel, Sergey V Prykhozhij, Anna Cordeiro, Irina Alecu, William Mannherz, Mira Liebman, Elaine W. Leung, Steffany Bennett, Miroslava Cuperlovic-Culf, Suneet Agarwal, Yigal Dror, Jason N. Berman
Journal: Blood
Blood (2024) 144 (Supplement 1): 4971.
https://doi.org/10.1182/blood-2024-211315
Published: 2024
Journal Articles

Decoding Transcriptomic Landscape and Molecular Pathways in DNAJC21 Deficiency

Francesco Saettini, Shreya Kanade, Fabiola Guerra, Benedetta Elena Di Majo, Francesca Vendemini, Federica Mottadelli, Grazia Fazio, Deborah D'Aliberti, Silvia Spinelli, Vincenzo L'Imperio, Albert Catala, Elena Laura Gonzalez-Forster, Maria Solsona, Josune Zubicaray, Julián Sevilla, Eva Galvez Villa, Andrea Biondi, Yigal Dror, Rocco Piazza
Journal: Blood
Blood (2024) 144 (Supplement 1): 5702.
https://doi.org/10.1182/blood-2024-209506
Published: 2024
Journal Articles

Outcomes of Immunosuppressive Therapy in Children Less Than Three Years of Age with Idiopathic Severe Aplastic Anemia: A North American Collaboration

Talya Wittmann Dayagi, Laura Willis, Catherine Corriveau-Bourque, Michaela Cada, Zora R. Rogers, Taizo A. Nakano, Timothy S. Olson, Winfred C. Wang, Alfred Gillio, Thomas D. Coates, Anjulika Chawla, Paul Castillo, Peter Kurre, Christopher Gamper, Staci D. Arnold, Sarita Joshi, Amy E. Geddis, Jessica Boklan, Jennifer A. Rothman, James N. Huang, Gary M. Kupfer, Bertil Glader, Kelly J. Walkovich, Alexis Thompson, Rabi Hanna, David A. Williams, Akiko Shimamura, Yigal Dror
Journal: Blood
Blood (2024) 144 (Supplement 1): 2691.
https://doi.org/10.1182/blood-2024-198302
Published: 2024
Journal Articles

Targeting Nucleotide Biosynthesis Ameliorates Neutropenia in a Zebrafish Model of Dnajc21-Mutant Shwachman-Diamond Syndrome

Sarada Ketharnathan, Sujata Pokharel, Kevin Ban, Sergey V Prykhozhij, Anna Cordeiro, Elaine W. Leung, Mira Liebman, Miroslava Cuperlovic-Culf, Yigal Dror, Jason Berman
Journal: Blood
Blood (2023) 142 (Supplement 1): 2731.
https://doi.org/10.1182/blood-2023-187580
Published: 2023
Journal Articles

Cellular and Molecular Analysis of Hematopoietic Stem and Progenitor Cells in Shwachman-Diamond Syndrome

Apichat Photia, Mariana Benicio, Efe Sahinoglu, Hongbing Li, Richard Neil Armstrong, Houtan Moshiri, Robert J. Klaassen, Yves D Pastore, John E. Dick, Yigal Dror
Journal: Blood
Blood (2023) 142 (Supplement 1): 1364.
https://doi.org/10.1182/blood-2023-190722
Published: 2023
Journal Articles

A Zebrafish Model of Parn-Deficiency Reveals Conserved Mechanisms Underlying Marrow Failure and Opportunities for Therapeutic Amelioration of Hematopoiesis

Sarada Ketharnathan, Sujata Pokharel, Sergey V Prykhozhij, Anna Cordeiro, Elaine W. Leung, William Mannherz, Yigal Dror, Suneet Agarwal, Jason Berman
Journal: Blood
Blood (2023) 142 (Supplement 1): 2737.
https://doi.org/10.1182/blood-2023-190331
Published: 2023
Journal Articles

Predictors of Disease Progression and Survival in Patients with Myelodysplastic Syndrome Secondary to Inherited Bone Marrow Failure Syndromes

Reena Pabari, Elisa Cohen, Geoff D.E. Cuvelier, Robert J. Klaassen, Stephanie Villeneuve, Josee Brossard, Sharon Abish, MacGregor Steele, Yves D. Pastore, Jeffrey H. Lipton, Meera Rayar, Vicky R. Breakey, Laura Wheaton, Lawrence Jardine, Roona Sinha, Lisa Goodyear, Bruno Michon, Catherine Corriveau-Bourque, Lillian Sung, Yigal Dror, Michaela Cada
Journal: Blood
Blood (2022) 140 (Supplement 1): 11461–11462.
https://doi.org/10.1182/blood-2022-169965
Published: 2022
Journal Articles

A Zebrafish Model of Dnajc21 Deficiency Identifies Essential Roles in Granulocyte Differentiation and Metabolic Regulation

Sarada Ketharnathan, Sergey V Prykhozhij, Anna Cordeiro, Yigal Dror, Jason N Berman
Journal: Blood
Blood (2022) 140 (Supplement 1): 5818.
https://doi.org/10.1182/blood-2022-169865
Published: 2022
Journal Articles

Zebrafish Models Provide Novel Insights into the Disease Biology of Parn-Mutant Dyskeratosis Congenita and DNAJC21-Mutant Shwachman-Diamond Syndrome

Sarada Ketharnathan, Sergey Prykhozhij, Anna Cordeiro, Yigal Dror, Jason N Berman
Journal: Blood
Blood (2021) 138 (Supplement 1): 1110.
https://doi.org/10.1182/blood-2021-150481
Published: 2021
Journal Articles

Erythropoiesis Failure in Diamond-Blackfan Anemia Starts at the Oligopotent Common Myeloid and Megakaryocyte-Erythroid Progenitor Stage

Richard N Armstrong, PhDBSc, Mariana Benicio, PhD, Houtan Moshiri, PhD, Hongbing Li, PhD, Bozana Zlateska, MD MSc, Olga I. Gan, PhD, Eric R Lechman, PhD, John E. Dick, PhD FRS, Yigal Dror, MD FRCPC
Journal: Blood
Blood (2020) 136 (Supplement 1): 37.
https://doi.org/10.1182/blood-2020-143103
Published: 2020
Journal Articles

TINF2 Mutations Are Associated with Poor Outcome Post Hematopoietic Stem Cell Transplantation for Dyskeratosis Congenita

Yeon Jung Lim, MD, Omri Avraham Arbiv, Melanie Evelyn Kalbfleisch, Mohammed Nuaimi, MD, MacGregor Steele, MD FRCPC, Geoff D.E. Cuvelier, MD, Tal Schechter-Finkelstein, MD, Bozana Zlateska, MD MSc, Michaela Cada, MD FRCPC, FAAP, MPH, Yigal Dror, MD FRCPC
Journal: Blood
Blood (2020) 136 (Supplement 1): 26.
https://doi.org/10.1182/blood-2020-142447
Published: 2020
Journal Articles

Genotypic and Phenotypic Spectrum of Dyskeratosis Congenita: Results from the Canadian Inherited Marrow Failure Registry

Mohammed Al Nuaimi, MDBSc,FRCPC, Evelyn Elias, MSc, Albert Catala, MD PhD, Bozana Zlateska, MD MSc, Yeon Jung Lim, MD, Robert J Klaassen, MD FRCPC, Geoff D.E. Cuvelier, MD, Conrad Fernandez, FRCPC, MD BSc, Meera Rayar, MacGregor Steele, MD FRCPC, Sharon Abish, MD, Yves D. Pastore, MD, Vicky R. Breakey, BSc,MDFRCPC, Soumitra Tole, MD MSc, Josee Brossard, MD, Roona Sinha, MD, Mariana Silva, MD FRCPC, Lisa Goodyear, MD FRCPC, Jeffrey H. Lipton, MD PhD, Bruno Michon, MD FRCPC, Catherine Corriveau-Bourque, MD, Lillian Sung, MDPhD, Yigal Dror, MD FRCPC, Michaela Cada, MD FRCPC, FAAP, MPH
Journal: Blood
Blood (2020) 136 (Supplement 1): 8–9.
https://doi.org/10.1182/blood-2020-140793
Published: 2020
Journal Articles

Cellular and Molecular Architecture of Hematopoietic Stem Cells and Progenitors in Genetic Models of Bone Marrow Failure

Stephanie C. Heidemann, MD, Brian Bursic, Sasan Zandi, MD PhD, Hongbing Li, PhD, Robert J Klaassen, MD FRCPC, Sharon Abish, MD, Meera Rayar, Vicky R. Breakey, BSc,MDFRCPC, Houtan Moshiri, PhD, Santhosh Dhanraj, PhD, Richard de Borja, PhD, Adam Shlien, PhD, John E. Dick, PhD, Yigal Dror, MDFRCPC, Sagi Abelson, PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 1223.
https://doi.org/10.1182/blood-2019-130534
Published: 2019
Journal Articles

Predictors of Disease Progression and Survival in Patients with Myelodysplastic Syndrome Secondary to Inherited Bone Marrow Failure Syndromes

Reena Pabari, MD MSc, BSc, FRCPC, Elisa Cohen, Geoffrey Cuvelier, MD, Robert J Klaassen, MD FRCPC, Conrad Fernandez, FRCPC, MD BSc, Josee Brossard, MD, Sharon Abish, MD, MacGregor Steele, MD, Yves D. Pastore, MD, Jeffrey H. Lipton, MD PhD, Meera Rayar, Vicky R. Breakey, BSc,MDFRCPC, Mariana Silva, MD FRCPC, Lawrence Jardine, MD BA, FRCPC, Roona Sinha, MD, Lisa Goodyear, MD FRCPC, Bruno Michon, MD FRCPC, Catherine Corriveau-Bourque, MD, Lillian Sung, MD PhD, Yeon Jung Lim, MD, Bozana Zlateska, Yigal Dror, MDFRCPC, Michaela Cada, MD FRCPC, FAAP, MPH
Journal: Blood
Blood (2019) 134 (Supplement_1): 2507.
https://doi.org/10.1182/blood-2019-130129
Published: 2019
Journal Articles

The Impact of Identifying the Syndromic and Genetic Diagnoses on Hematopoietic Stem Cell Transplantation Outcome in Patients with Inherited Bone Marrow Failure Syndromes

Yeon Jung Lim, MD, Omri Avraham Arbiv, BSc, Melanie Evelyn Kalbfleisch, BSc, Robert J Klaassen, MD FRCPC, Conrad Fernandez, FRCPC, MD BSc, Meera Rayar, MacGregor Steele, MD, Jeffrey H. Lipton, MD PhD, Geoffrey Cuvelier, MD, Yves D. Pastore, MD, Mariana Silva, MD FRCPC, Josee Brossard, MD, Bruno Michon, MD FRCPC, Sharon Abish, MD, Roona Sinha, MD, Mark J. Belletrutti, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Lawrence Jardine, MD BA, FRCPC, Lisa Goodyear, MD FRCPC, Lillian Sung, MD PhD, Tal Schechter-Finkelstein, MD, Bozana Zlateska, Michaela Cada, MD FRCPC, FAAP, MPH, Yigal Dror, MDFRCPC
Journal: Blood
Blood (2019) 134 (Supplement_1): 5015.
https://doi.org/10.1182/blood-2019-121743
Published: 2019
Journal Articles

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

Anna Cordeiro, PhD, Adam P Deveau, MSc, Santhosh Dhanraj, PhD, Yigal Dror, MDFRCPC, Jason Berman, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3744.
https://doi.org/10.1182/blood-2019-130147
Published: 2019
Journal Articles

Re-Analysis of Next Generation Sequencing Gene Panel Data By Normalized Coverage Values Reveals Previously Undetected Copy Number Variations in Inherited Bone Marrow Failure Syndromes

Supanun Lauhasurayotin, MD, Iren Shabanova, Hongbing Li, PhD, Santhosh Dhanraj, PhD, Bozana Zlateska, MD, Robert J Klaassen, MD FRCPC, Conrad Fernandez, FRCPC, MD BSc, Geoff DE Cuvelier, MD FRCP(C), John K. Wu, MBBS, FRCPC, MS, Yves D. Pastore, MD, Mariana Silva, MD FRCPC, Jeffrey H. Lipton, MD PhD, Josee Brossard, MD, Bruno Michon, MD FRCPC, Sharon Abish, MD, MacGregor Steele, MD FRCP(C), Roona Sinha, MD, Mark J. Belletrutti, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Lawrence Jardine, MD BA, FRCPC, Lisa Goodyear, MD FRCPC, Lillian Sung, MD PhD, Mary Shago, PhD, Michaela Cada, MD FRCPC, FAAP, MPH, Scherer W Stephen, Yigal Dror, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 2460.
https://doi.org/10.1182/blood.V130.Suppl_1.2460.2460
Published: 2017
Journal Articles

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

Santhosh Dhanraj, Anna Matveev, Hongbing Li, Supanun Lauhasurayotin, Lawrence Jardine, Michaela Cada, Bozana Zlateska, Chetankumar S. Tailor, Joseph Zhou, Roberto Mendoza-Londono, Ajoy Vincent, Peter R. Durie, Stephen W. Scherer, Johanna M. Rommens, Elise Heon, Yigal Dror
Journal: Blood
Blood (2017) 129 (11): 1557–1562.
https://doi.org/10.1182/blood-2016-08-735431
Published: 2017
Includes: Supplemental data
Journal Articles

Copy Number Variants Underlying Inherited Bone Marrow Failure Syndromes

Nicolas Waespe, MD, Santhosh Dhanraj, BSc, MSc, Manju Wahala, MD, Tom Enbar, Bozana Zlateska, Hongbing Li, PhD, Robert J. Klaassen, MD FRCP, Conrad Fernandez, MD, Rochelle Yanofsky, MD FRCP(C), John K. Wu, MBBS, MSc, FRCPC, Yves D. Pastore, MD, Mariana Silva, MD FRCPC, Jeffrey H. Lipton, MD PhD, Josee Brossard, MD, Bruno Michon, MD FRCPC, Sharon Abish, MD, MacGregor Steele, MD FRCP(C), Roona Sinha, MD, Mark J. Belletrutti, MD MSc, Vicky R. Breakey, BSc, MD MD FRCPC, Lawrence Jardine, MD BA, FRCPC, Lisa Goodyear, MD FRCPC, Liat Kofler, Ibrahim A. Ghemlas, MD, Michaela Cada, MD FRCPC, FAAP, MPH, Lillian Sung, MD PhD, Mary Shago, PhD, Stephen W. Scherer, PhD FRSC, Yigal Dror, MD FRCP(C)
Journal: Blood
Blood (2015) 126 (23): 2416.
https://doi.org/10.1182/blood.V126.23.2416.2416
Published: 2015
Journal Articles

The Zebrafish Provides Mechanistic Insights into the Role of Poly(A)-Specific Ribonuclease ( PARN ) in Hematopoietic Stem Cell (HSC) Homeostasis and Bone Marrow Failure

Adam P Deveau, BScH, MSc, Andrew J Coombs, BScH, Santhosh Dhanraj, BSc, MSc, Gretchen Wagner, BScH, Yigal Dror, MD FRCP(C), Jason N. Berman, MD
Journal: Blood
Blood (2015) 126 (23): 668.
https://doi.org/10.1182/blood.V126.23.668.668
Published: 2015