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Neelam Giri
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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

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

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

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

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

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

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

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

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

Phase II Study of Eltrombopag in Subjects with Fanconi Anemia

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

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

Cancer in Heterozygote Carriers of Fanconi Anemia Genes

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

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

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

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

Cancer in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort after 15 Years of Follow-up

Blanche P Alter, MD MPH, Neelam Giri, MD, Sharon A Savage, MD, Philip S. Rosenberg, PhD
Journal: Blood
Blood (2016) 128 (22): 334.
https://doi.org/10.1182/blood.V128.22.334.334
Published: 2016
Journal Articles

Prognostic Significance of Pulmonary Function Test Abnormalities in Patients with Dyskeratosis Congenita

Neelam Giri, MD, Sandhiya Ravichandran, Joseph Fontana, MD, Blanche P. Alter, MD MPH, Payal Khincha, MD, Sharon A Savage, MD
Journal: Blood
Blood (2016) 128 (22): 2672.
https://doi.org/10.1182/blood.V128.22.2672.2672
Published: 2016
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
Journal: Blood
Blood (2016) 128 (22): 1495.
https://doi.org/10.1182/blood.V128.22.1495.1495
Published: 2016
Journal Articles

Novel Fanci Mutations in Fanconi Anemia with Vacterl Association

Blanche P Alter, MD MPH, Bari J Ballew, PhD, Neelam Giri, MD, Settara Chandrasekharappa, PhD, Najim Ameziane, PhD, Johan de Winter, PhD, Sharon A Savage, MD
Journal: Blood
Blood (2015) 126 (23): 4780.
https://doi.org/10.1182/blood.V126.23.4780.4780
Published: 2015