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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.

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

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

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

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

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

https://doi.org/10.1182/blood-2018-99-118495

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

Blood (2018) 132 (Supplement 1): 3868.

https://doi.org/10.1182/blood-2018-99-116458

Published: 2018

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.

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

Published: 2016

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

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

Blood (2016) 128 (22): 2672.

https://doi.org/10.1182/blood.V128.22.2672.2672

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

Blood (2015) 126 (23): 4780.

https://doi.org/10.1182/blood.V126.23.4780.4780

Published: 2015

Journal Articles

De Novo RPS20 Mutations in Diamond Blackfan Anemia

Saleh Bhar, MD, Lisa Mirabello, PhD, Nimrat Chatterjee, PhD, Christopher Williams, B.S., Blanche P. Alter, MD MPH, Neelam Giri, MD, Richard Person, PhD, Megan Landsverk, PhD, Christine Eng, MD, Sharon A Savage, MD, Alison Bertuch, MD PhD

Blood (2014) 124 (21): 2667.

https://doi.org/10.1182/blood.V124.21.2667.2667

Published: 2014

Journal Articles

Fertility and Pregnancy Outcomes in Females with Dyskeratosis Congenita

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

Blood (2014) 124 (21): 1598.

https://doi.org/10.1182/blood.V124.21.1598.1598

Published: 2014

Journal Articles

Telomere Length in Inherited Bone Marrow Failure Syndromes

Blanche P. Alter, MD MPH, Neelam Giri, MD, Sharon A Savage, MD, Philip S. Rosenberg, PhD

Blood (2014) 124 (21): 1609.

https://doi.org/10.1182/blood.V124.21.1609.1609

Published: 2014

Journal Articles

Functional Consequences Of RPS29 Germline Mutations In Diamond-Blackfan Anemia

Lisa Mirabello, PhD, Elizabeth R Macari, PhD, Lea Jessop, PhD, Timothy Myers, PhD, Neelam Giri, MD, Alison M. Taylor, PhD, Katherine E. McGrath, Jessica M. Humphries, Bari J Ballew, PhD, Meredith Yeager, PhD, Joseph F Boland, Ji He, Belynda D Hicks, Laurie Burdett, PhD, Blanche P Alter, MD, MPH, Leonard I. Zon, MD, Sharon A Savage, MD

Blood (2013) 122 (21): 2465.

https://doi.org/10.1182/blood.V122.21.2465.2465

Published: 2013

Journal Articles

Evaluating The Utility Of Telomere Length Measurement By Qpcr As a Diagnostic Test For Dyskeratosis Congenita

Payal Khincha, MD, Shahinaz M Gadalla, MD, PhD, Hormuzd Katki, Neelam Giri, MD, Jason Wong, Stephen Spellman, MBS, Jack Yanovski, Joan Han, Immaculata De Vivo, Blanche P Alter, MD, MPH, Sharon A Savage, MD

Blood (2013) 122 (21): 3700.

https://doi.org/10.1182/blood.V122.21.3700.3700

Published: 2013

Journal Articles

Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry

Chaim Jalas, Anastasia Fedick, Bari J Ballew, PhD, Blanche P Alter, MD, MPH, Neelam Giri, MD, Simon Boulton, Kenneth Offit, John Petrini, PhD, Nathan Treff, Sharon A Savage, MD

Blood (2013) 122 (21): 1228.

https://doi.org/10.1182/blood.V122.21.1228.1228

Published: 2013

Journal Articles

Clinically Silent Carriers in Families with Myelodysplastic Syndrome Due to GATA2 Mutations

Blanche P Alter, MD, MPH, Neelam Giri, MD, Katherine R Calvo, MD, PhD, Irina Maric, MD, Diane C Arthur, M.D., Dennis D. Hickstein, M.D., Caroline A. Hastings, MD, Michelle A Lee, MD, PhD, Amy Hsu, B.S., Steven M. Holland, MD

Blood (2012) 120 (21): 1264.

https://doi.org/10.1182/blood.V120.21.1264.1264

Published: 2012

Journal Articles

Bone Marrow Cellular Composition and Inflammatory Cytokine Expression in Patients with Inherited Bone Marrow Failure Syndromes

Neelam Giri, MD, Ken Matsui, PhD, Blanche P Alter, MD, MPH, Sharon A Savage, MD, Yuanji Pan, Ligia Pinto, PhD

Blood (2012) 120 (21): 4401.

https://doi.org/10.1182/blood.V120.21.4401.4401

Published: 2012

Journal Articles

Germline Mutations in RTEL1 cause Dyskeratosis Congenita

Bari J. Ballew, PhD, Kevin B. Jacobs, M.S., Meredith Yeager, PhD, Neelam Giri, MD, Joseph F. Boland, Belynda D. Hicks, Laurie Burdett, PhD, Amy A. Hutchinson, Blanche P. Alter, MD, MPH, Sharon A. Savage, MD

Blood (2012) 120 (21): 515.

https://doi.org/10.1182/blood.V120.21.515.515

Published: 2012

Journal Articles

RPS29 is Mutated in a Multi-Case Diamond Blackfan Anemia Family

Lisa Mirabello, PhD, Bari J. Ballew, PhD, Neelam Giri, MD, Kevin B. Jacobs, M.S., Meredith Yeager, PhD, Joseph F. Boland, Belynda D. Hicks, Laurie Burdett, PhD, Amy A. Hutchinson, Blanche P. Alter, MD, MPH, Sharon A. Savage, MD

Blood (2012) 120 (21): 511.

https://doi.org/10.1182/blood.V120.21.511.511

Published: 2012

NARROW

Disease Progression and Outcomes in Patients with Telomere Biology Disorders

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

Phase II Study of Eltrombopag in Subjects with Fanconi 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

Cancer in Heterozygote Carriers of Fanconi Anemia Genes

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

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

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

Novel Fanci Mutations in Fanconi Anemia with Vacterl Association

De Novo RPS20 Mutations in Diamond Blackfan Anemia

Fertility and Pregnancy Outcomes in Females with Dyskeratosis Congenita

Telomere Length in Inherited Bone Marrow Failure Syndromes

Functional Consequences Of RPS29 Germline Mutations In Diamond-Blackfan Anemia

Evaluating The Utility Of Telomere Length Measurement By Qpcr As a Diagnostic Test For Dyskeratosis Congenita

Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry

Clinically Silent Carriers in Families with Myelodysplastic Syndrome Due to GATA2 Mutations

Bone Marrow Cellular Composition and Inflammatory Cytokine Expression in Patients with Inherited Bone Marrow Failure Syndromes

Germline Mutations in RTEL1 cause Dyskeratosis Congenita

RPS29 is Mutated in a Multi-Case Diamond Blackfan Anemia Family

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American Society of Hematology

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