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Journal Articles

Differential diagnosis of bone marrow failure syndromes guided by machine learning

Blood (2023) 141 (17): 2100–2113.

DOI: https://doi.org/10.1182/blood.2022017518

Published: 2023

Includes: Supplemental data

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

Blood (2022) 140 (Supplement 1): 5743–5744.

DOI: 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

Blood (2022) 140 (Supplement 1): 2953–2954.

DOI: https://doi.org/10.1182/blood-2022-168940

Published: 2022

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

Blood (2022) 140 (Supplement 1): 2947–2948.

DOI: 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

Blood (2022) 140 (Supplement 1): 13078.

DOI: https://doi.org/10.1182/blood-2022-171040

Published: 2022

Journal Articles

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

Blood (2022) 140 (8): 909–921.

DOI: https://doi.org/10.1182/blood.2022016508

Published: 2022

Includes: Supplemental data

Journal Articles

Disease progression and clinical outcomes in telomere biology disorders

Marena R. Niewisch, Neelam Giri, Lisa J. McReynolds, Rotana Alsaggaf, Sonia Bhala, Blanche P. Alter, Sharon A. Savage

Blood (2022) 139 (12): 1807–1819.

DOI: https://doi.org/10.1182/blood.2021013523

Published: 2022

Includes: Supplemental data

Journal Articles

Telomere biology disorders gain a family member

Sharon A. Savage

Blood (2022) 139 (7): 957–959.

DOI: https://doi.org/10.1182/blood.2021014533

Published: 2022

Journal Articles

Germline-Somatic Interactions in Myelofibrosis Susceptibility

Blood (2021) 138 (Supplement 1): 313.

DOI: 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

Blood (2021) 138 (Supplement 1): 605.

DOI: https://doi.org/10.1182/blood-2021-146982

Published: 2021

Journal Articles

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

Blood (2021) 138 (Supplement 1): 2182.

DOI: https://doi.org/10.1182/blood-2021-151258

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

Blood (2020) 136 (Supplement 1): 19–20.

DOI: 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

Blood (2019) 134 (Supplement_1): 1224.

DOI: 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

Blood (2018) 132 (Supplement 1): 3854.

DOI: 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

Blood (2018) 132 (Supplement 1): 2586.

DOI: 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

Blood (2018) 131 (21): 2393–2398.

DOI: 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

Blood (2017) 130 (Supplement 1): 3254.

DOI: https://doi.org/10.1182/blood.V130.Suppl_1.3254.3254

Published: 2017

Journal Articles

Chromosome 6 Loss-of-Heterozygosity in Pre-Transplant Blood Samples of Patients with Severe Aplastic Anemia Is Associated with Lower Risk of Acute Graft- Versus -Host Disease

Shahinaz M Gadalla, MD PhD, Weiyin Zhou, MS, Tao Wang, PhD, Yoshitaka Zaimoku, MD, Shinji Nakao, MD PhD, Laurie Burdette, PhD, Amanda Willis, BS, Medhat Askar, MD PhD, Michael Haagenson, MS, Meredith Yeager, PhD, Youjin Wang, Stephen R. Spellman, Stephen J Chanock, MD, Stephanie J. Lee, MD PhD, Sharon A Savage, MD

Blood (2017) 130 (Supplement 1): 4479.

DOI: https://doi.org/10.1182/blood.V130.Suppl_1.4479.4479

Published: 2017

Journal Articles

Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort

Neelam Giri, Pamela Stratton, Sharon A. Savage, Blanche P. Alter

Blood (2017) 130 (14): 1674–1676.

DOI: https://doi.org/10.1182/blood-2017-08-802991

Published: 2017

Journal Articles

Novel and Known Ribosomal Causes of Diamond-Blackfan Anemia Identified through Comprehensive Genomic Characterization

Payal Khincha, MD, Lisa Mirabello, PhD, Steven R Ellis, PhD, Neelam Giri, MD, Seth Brodie, Settara Chandrasekharappa, PhD, Frank Donovan, Weiyin Zhou, MS, Belynda Hicks, Joseph Boland, Meredith Yeager, PhD, Kristine Jones, Bin Zhu, PhD, Mingyi Wang, Blanche P. Alter, MD MPH, Sharon A Savage, MD

Blood (2016) 128 (22): 1495.

DOI: https://doi.org/10.1182/blood.V128.22.1495.1495

Published: 2016

NARROW

Differential diagnosis of bone marrow failure syndromes guided by machine learning

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

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

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

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

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

Disease progression and clinical outcomes in telomere biology disorders

Telomere biology disorders gain a family member

Germline-Somatic Interactions in Myelofibrosis Susceptibility

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

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

Disease Progression and Outcomes in Patients with Telomere Biology Disorders

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

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

Large Genomic Deletions in Shwachman-Diamond Syndrome

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

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

Chromosome 6 Loss-of-Heterozygosity in Pre-Transplant Blood Samples of Patients with Severe Aplastic Anemia Is Associated with Lower Risk of Acute Graft- Versus -Host Disease

Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort

Novel and Known Ribosomal Causes of Diamond-Blackfan Anemia Identified through Comprehensive Genomic Characterization

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American Society of Hematology

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American Society of Hematology

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