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Sharon A. Savage
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Journal Articles

Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations

Fernanda Gutierrez-Rodrigues, Emma M. Groarke, Natthakan Thongon, Juan Jose Rodriguez-Sevilla, Luiz Fernando B. Catto, Marena R. Niewisch, Ruba Shalhoub, Lisa J. McReynolds, Diego V. Clé, Bhavisha A. Patel, Xiaoyang Ma, Dalton Hironaka, Flávia S. Donaires, Nina Spitofsky, Barbara A. Santana, Tsung-Po Lai, Lemlem Alemu, Sachiko Kajigaya, Ivana Darden, Weiyin Zhou, Paul V. Browne, Subrata Paul, Justin Lack, David J. Young, Courtney D. DiNardo, Abraham Aviv, Feiyang Ma, Michel Michels De Oliveira, Ana Paula de Azambuja, Cynthia E. Dunbar, Malgorzata Olszewska, Emmanuel Olivier, Eirini P. Papapetrou, Neelam Giri, Blanche P. Alter, Carmem Bonfim, Colin O. Wu, Guillermo Garcia-Manero, Sharon A. Savage, Neal S. Young, Simona Colla, Rodrigo T. Calado
Journal: Blood
Blood (2024) 144 (23): 2402–2416.
https://doi.org/10.1182/blood.2024025023
Published: 2024
Includes: Supplemental data
Journal Articles

Detection of Molecular Biomarkers in Fanconi Anemia Mucosa

Tamar Berger, Yu-Chien Lin, Frank X Donovan, Shivatheja Soma, Kinjal Bhadresha, Christine Krieg, Neelam Giri, Lisa J McReynolds, Armando Filie, Zohreh Khavandgar, Denise M Laronde, Martial Guillaud, Sharon A Savage, Eunike Velleuer, Settara C Chandrasekharappa, Agata Smogorzewska
Journal: Blood
Blood (2024) 144 (Supplement 1): 5704.
https://doi.org/10.1182/blood-2024-199823
Published: 2024
Journal Articles

Evaluating Bone Marrow and Peripheral Blood Samples from Individuals Diagnosed with IBMFS for Chromosomal Variations

Frank X Donovan, Neelam Giri, Lisa J McReynolds, Blanche P Alter, Sharon A Savage, Settara C Chandrasekharappa
Journal: Blood
Blood (2024) 144 (Supplement 1): 5703.
https://doi.org/10.1182/blood-2024-206647
Published: 2024
Journal Articles

Differential diagnosis of bone marrow failure syndromes guided by machine learning

Fernanda Gutierrez-Rodrigues, Eric Munger, Xiaoyang Ma, Emma M. Groarke, Youbao Tang, Bhavisha A. Patel, Luiz Fernando B. Catto, Diego V. Clé, Marena R. Niewisch, Raquel M. Alves-Paiva, Flávia S. Donaires, André Luiz Pinto, Gustavo Borges, Barbara A. Santana, Lisa J. McReynolds, Neelam Giri, Burak Altintas, Xing Fan, Ruba Shalhoub, Christopher M. Siwy, Carrie Diamond, Diego Quinones Raffo, Kathleen Craft, Sachiko Kajigaya, Ronald M. Summers, Paul Liu, Lea Cunningham, Dennis D. Hickstein, Cynthia E. Dunbar, Ricardo Pasquini, Michel Michels De Oliveira, Elvira D. R. P. Velloso, Blanche P. Alter, Sharon A. Savage, Carmem Bonfim, Colin O. Wu, Rodrigo T. Calado, Neal S. Young
Journal: Blood
Blood (2023) 141 (17): 2100–2113.
https://doi.org/10.1182/blood.2022017518
Published: 2023
Includes: Supplemental data
Journal Articles

Avascular Necrosis and Minimal Trauma Bone Fractures in Patients with Dyskeratosis Congenita

Arman M Niknafs, Sharon A. Savage, Marena Rebekka Niewisch, Neelam Giri
Journal: Blood
Blood (2022) 140 (Supplement 1): 2947–2948.
https://doi.org/10.1182/blood-2022-169845
Published: 2022
Journal Articles

Publication of Second Edition Telomere Biology Disorders: Diagnosis and Management Guidelines

Katie Barrett Stevens, Hannah A. Raj, Heidi Carson, Sharon A. Savage, Suneet Agarwal
Journal: Blood
Blood (2022) 140 (Supplement 1): 13078.
https://doi.org/10.1182/blood-2022-171040
Published: 2022
Journal Articles

Chronic Inflammation Drives p53 Mutant Clonal Hematopoiesis Via Activating the NLRP1 Inflammasome

Sergio of Barajas, Sasidhar Vemula, Sisi Chen, Hongxia Chen, Wenjie Cai, Shiyu Xiao, Stephanie Halene, Omar Abdel-Wahab, Linsey Mayo, Sharon A. Savage, Yan Liu
Journal: Blood
Blood (2022) 140 (Supplement 1): 5743–5744.
https://doi.org/10.1182/blood-2022-169754
Published: 2022
Journal Articles

Telomere Shortest Length Assay (TeSLA) Defines the Distribution and Accumulation of the Shortest Telomeres in Dyskeratosis Congenita

Hannah A. Raj, Tsung-Po Lai, Marena R. Niewisch, Youjin Wang, Stephen R. Spellman, Abraham Aviv, Shahinaz M. Gadalla, Sharon A. Savage
Journal: Blood
Blood (2022) 140 (Supplement 1): 2953–2954.
https://doi.org/10.1182/blood-2022-168940
Published: 2022
Journal Articles

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

Clinical Trials & Observations
Lisa J. McReynolds, Maryam Rafati, Youjin Wang, Bari J. Ballew, Jung Kim, Valencia V. Williams, Weiyin Zhou, Rachel M. Hendricks, Casey Dagnall, Neal D. Freedman, Brian Carter, Sara Strollo, Belynda Hicks, Bin Zhu, Kristine Jones, Sophie Paczesny, Steven G. E. Marsh, Stephen R. Spellman, Meilun He, Tao Wang, Stephanie J. Lee, Sharon A. Savage, Shahinaz M. Gadalla
Journal: Blood
Blood (2022) 140 (8): 909–921.
https://doi.org/10.1182/blood.2022016508
Published: 2022
Includes: Supplemental data
Journal Articles

Disease progression and clinical outcomes in telomere biology disorders

Clinical Trials & Observations
Marena R. Niewisch, Neelam Giri, Lisa J. McReynolds, Rotana Alsaggaf, Sonia Bhala, Blanche P. Alter, Sharon A. Savage
Journal: Blood
Blood (2022) 139 (12): 1807–1819.
https://doi.org/10.1182/blood.2021013523
Published: 2022
Includes: Supplemental data
Journal Articles

Telomere biology disorders gain a family member

Sharon A. Savage
Journal: Blood
Blood (2022) 139 (7): 957–959.
https://doi.org/10.1182/blood.2021014533
Published: 2022
Journal Articles

Genomic-Based Machine Learning Towards Prediction of the Etiology of Bone Marrow Failure Syndromes

Fernanda Gutierrez-Rodrigues, Eric Munger, Xiaoyang Ma, Youbao Tang, Emma M Groarke, Bhavisha A. Patel, Luiz Fernando Bazzo Catto, Diego V Clé, Marena R. Niewisch, Flávia S Donaires, Sachiko Kajigaya, Cynthia E. Dunbar, Neelam Giri, Michel Michels De Oliveira, Lisa J. McReynolds, Blanche P. Alter, Sharon A. Savage, Carmem M. S. Bonfim, Colin O. Wu, Rodrigo T. Calado, Neal S. Young
Journal: Blood
Blood (2021) 138 (Supplement 1): 2182.
https://doi.org/10.1182/blood-2021-151258
Published: 2021
Journal Articles

Germline-Somatic Interactions in Myelofibrosis Susceptibility

Derek W Brown, Youjin Wang, Andrew St. Martin, Stephen R. Spellman, Shu-Hong Lin, Olivia Lee, Alyssa Klein, Tongwu Zhang, Weiyin Zhou, Kristine Jones, Amy Hutchinson, Jia Liu, Bin Zhu, Casey Dagnall, Sairah Khan, Maryam Rafati, Tao Wang, H. Joachim Deeg, Vikas Gupta, Stephanie J. Lee, Meredith Yeager, Sharon A. Savage, Wael Saber, Shahinaz Gadalla, Mitchell Machiela
Journal: Blood
Blood (2021) 138 (Supplement 1): 313.
https://doi.org/10.1182/blood-2021-150634
Published: 2021
Journal Articles

Whole Exome Sequencing in Severe Aplastic Anemia Identifies Unrecognized Inherited Subset with Inferior Survival after Hematopoietic Cell Transplant

Lisa J. McReynolds, Maryam Rafati, Youjin Wang, Bari Ballew, Valencia Owens, Jung Kim, Neal D. Freedman, Brian Carter, Sarah Strollo, Casey Dagnall, Belynda Hicks, Bin Zhu, Kristine Jones, Sophie Paczesny, Steven G.E. Marsh, Stephen R. Spellman, Stephanie J. Lee, Sharon A. Savage, Shahinaz M. Gadalla
Journal: Blood
Blood (2021) 138 (Supplement 1): 605.
https://doi.org/10.1182/blood-2021-146982
Published: 2021
Journal Articles

Disease Progression and Outcomes in Patients with Telomere Biology Disorders

Marena R. Niewisch, MD, Neelam Giri, MD, Lisa J. McReynolds, MD PhD, Sonia Bhala, BS, Rotana Alsaggaf, PhDMS, Blanche P. Alter, MD MPH, Sharon A. Savage, MD
Journal: Blood
Blood (2020) 136 (Supplement 1): 19–20.
https://doi.org/10.1182/blood-2020-136851
Published: 2020
Journal Articles

Genome-Wide Association Study Identifies an Immune-Related Etiology for Severe Aplastic Anemia

Sharon A. Savage, MD, Mathias Viard, PhD, Weiyin Zhou, MS, Meredith Yeager, PhD, Shengchao Li, Tao Wang, PhD, Aurelie Vogt, Belynda Hicks, PhD, Laurie Burdett, PhD, Charles Chung, Colm O'hUigin, PhD, Michael Dean, PhD, Kelvin de Andrade, PhD, Neal D Freedman, Sonja I Berndt, PhD, Nathaniel Rothman, Qing Lan, PhD, James R. Cerhan, MD PhD, Susan L Slager, PhD, Yawei Zhang, Lauren R Teras, PhD, Michael Haagenson, MS, Stephen J Chanock, MD, Stephen R. Spellman, MS, Youjin Wang, PhDBPharm, Amanda Willis, BS, Medhat Askar, MD PhD, Stephanie J. Lee, MD MPH, Carrington Mary, PhD, Shahinaz M Gadalla, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 1224.
https://doi.org/10.1182/blood-2019-128235
Published: 2019
Journal Articles

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Neelam Giri, MD, Matthew Gianferante, MD, Evangelia Atsidaftos, MA, MPH, Marcin W. Wlodarski, MD PhD, Paola Quarello, MD, Jana Volejnikova, MD, Polyxeni Delaporta, MD, Vijay G. Sankaran, MD PhD, Jason E. Farrar, MD, Maryam Hussain, MPH, Lisa J. McReynolds, MD PhD, Antonis Kattamis, Jeffrey M Lipton, MD PhD, Charlotte Niemeyer, MD, Dagmar Pospisilova, MD PhD, Ugo Ramenghi, MD, Sharon A. Savage, MD, Adrianna Vlachos, MD, Blanche P. Alter, MD MPH
Journal: Blood
Blood (2018) 132 (Supplement 1): 3854.
https://doi.org/10.1182/blood-2018-99-117171
Published: 2018
Journal Articles

Large Genomic Deletions in Shwachman-Diamond Syndrome

Lisa J. McReynolds, MD PhD, Kristine Jones, BS, Kedest Teshome, BS, Alyssa Kennedy, MD PhD, Akiko Shimamura, MD PhD, Neelam Giri, MD, Blanche P. Alter, MD MPH, Sharon A. Savage, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 2586.
https://doi.org/10.1182/blood-2018-99-118495
Published: 2018
Journal Articles

Donor telomere length and causes of death after unrelated hematopoietic cell transplantation in patients with marrow failure

Shahinaz M. Gadalla, Geraldine Aubert, Tao Wang, Michael Haagenson, Stephen R. Spellman, Lingxiao Wang, Hormuzd A. Katki, Sharon A. Savage, Stephanie J. Lee
Journal: Blood
Blood (2018) 131 (21): 2393–2398.
https://doi.org/10.1182/blood-2017-10-812735
Published: 2018
Journal Articles

Donor Lymphocyte Cell-Specific Telomere Length and Causes of Death after Unrelated Hematopoietic Cell Transplant in Patients with Marrow Failure

Shahinaz M Gadalla, MD PhD, Geraldine Aubert, PhD, Tao Wang, PhD, Michael Haagenson, MS, Stephen R. Spellman, Lingxiao Wang, MS, Hormuzd Katki, PhD, Stephanie J Lee, MD MPH, Sharon A Savage, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 3254.
https://doi.org/10.1182/blood.V130.Suppl_1.3254.3254
Published: 2017