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Journal Articles

Bone matters: Defining the burden of skeletal disease in telomere biology disorders

Free
Jane Koo, Lindsey N. Hornung, Jonathan Howell, Ethan Lawhorn, Dawn Comstock, Christopher Reilly, Alejandro Ferrer, Abhishek Mangaonkar, Bianca Barredo, Jane Churpek, Fabian Beier, Linda Frazier, Pamela Vincent, Paul Szabolcs, Jessica Uhrich, Marcin Wlodarski, Nicholas Gloude, Helena Yu, Divya Koura, Tanim Jain, Orna Steinberg-Shemer, Christen Ebens, Paul Wratkowski, Soundarya Avantsa, Emma Groarke, Bhavisha Patel, Sharon Savage, Neelam Giri, Kasiani Myers
Journal: Blood
Blood (2025) 146 (Supplement 1): 6747.
https://doi.org/10.1182/blood-2025-6747
Published: 2025
Journal Articles

Characterization of the germline and somatic mutation profile of diamond-blackfan anemia

Free
Luiz Catto, Fernanda Gutierrez-Rodrigues, Matthew Gianferante, Luiz Darrigo, Marília Catto, Xing Fan, Flavia Donaires, Neal Young, Sharon Savage, Neelam Giri, Rodrigo Calado, Cynthia Dunbar, David Young
Journal: Blood
Blood (2025) 146 (Supplement 1): 4993.
https://doi.org/10.1182/blood-2025-4993
Published: 2025
Journal Articles

Hematologic malignancies in pediatric patients with RUNX1-familial platelet disorder with associated myeloid malignancy

Free
Amra Kajdic, Natalie Deuitch, Erica Bresciani, Shawn Chong, Kathleen Craft, Joie Davis, Roa Bashtawi, Lisa McReynolds, Neelam Giri, David Young, Paul Liu
Journal: Blood
Blood (2025) 146 (Supplement 1): 1437.
https://doi.org/10.1182/blood-2025-1437
Published: 2025
Journal Articles

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

Free
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

Free
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

Free
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

Free
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

Free
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

Disease progression and clinical outcomes in telomere biology disorders

Free
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

FANCA Variants in Exons 27-30 Are Associated with Solid Tumors in Fanconi Anemia

Free
Burak Altintas, Neelam Giri, Lisa J. McReynolds, Blanche P. Alter
Journal: Blood
Blood (2021) 138 (Supplement 1): 2192.
https://doi.org/10.1182/blood-2021-146897
Published: 2021
Journal Articles

Prospective Phase I/II Study of Eltrombopag for the Treatment of Bone Marrow Failure in Fanconi Anemia

Free
Ma Evette Barranta, Fariba Chinian, Katherine Roskom, Tarik Lott, Julie Erb-Alvarez, Katherine R. Calvo, Thomas Winkler, Neelam Giri, Andre Larochelle
Journal: Blood
Blood (2021) 138 (Supplement 1): 2177.
https://doi.org/10.1182/blood-2021-148573
Published: 2021
Journal Articles

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

Free
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

Genotype-Phenotype Associations in Patients with Fanconi Anemia: National Cancer Institute Cohort

Free
Burak Altintas, MD, Neelam Giri, MD, Lisa J. McReynolds, MD PhD, Blanche P. Alter, MD MPH
Journal: Blood
Blood (2020) 136 (Supplement 1): 4–5.
https://doi.org/10.1182/blood-2020-137200
Published: 2020
Journal Articles

Disease Progression and Outcomes in Patients with Telomere Biology Disorders

Free
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

Phase II Study of Eltrombopag in Subjects with Fanconi Anemia

Free
Daisuke Araki, MD, Ma Evette Barranta, Fariba Chinian, MS, Julie Erb-Alvarez, MPH, Thomas Winkler, MD, Neelam Giri, MD, Andre Larochelle, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3753.
https://doi.org/10.1182/blood-2019-123151
Published: 2019
Journal Articles

Cancer in Heterozygote Carriers of Fanconi Anemia Genes

Free
Blanche P. Alter, MD MPH, Neelam Giri, MD, Lisa James McReynolds, MD PhD, Philip S. Rosenberg, PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 3868.
https://doi.org/10.1182/blood-2018-99-116458
Published: 2018
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

Free
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

Free
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

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

Free
Clinical Trials & Observations
Neelam Giri, Pamela Stratton, Sharon A. Savage, Blanche P. Alter
Journal: Blood
Blood (2017) 130 (14): 1674–1676.
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

Free
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
Journal: Blood
Blood (2016) 128 (22): 1495.
https://doi.org/10.1182/blood.V128.22.1495.1495
Published: 2016