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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

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

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

Myelodysplasia, Leukemia, Lymphoid Malignancies, and Other Cancers in Patients with Severe Chronic Neutropenia

David C Dale, MD, Audrey Anna Bolyard, RN, BS, Blanche P. Alter, MD MPH, Mary Ann Bonilla, MD, James Connelly, MD, Daniel C. Link, MD, Peter E. Newburger, MD, Philip S. Rosenberg, PhD, Akiko Shimamura, MD PhD, Kelly J. Walkovich, MD

Blood (2018) 132 (Supplement 1): 16.

https://doi.org/10.1182/blood-2018-99-112694

Published: 2018

Journal Articles

MDS and AML in Shwachman-Diamond Syndrome: Clinical Features and Outcomes

Blood (2017) 130 (Supplement 1): 1177.

https://doi.org/10.1182/blood.V130.Suppl_1.1177.1177

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.

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

Published: 2016

Journal Articles

Myelodysplastic Syndrome and Gastrointestinal Carcinomas Characterize the Cancer Risk in Diamond Blackfan Anemia: A Report from the Diamond Blackfan Anemia Registry

Adrianna Vlachos, MD, Philip S Rosenberg, PhD, Jessica Kang, BS, Eva Atsidaftos, MA, Blanche P Alter, MD MPH, Jeffrey M Lipton, MD PhD

Blood (2016) 128 (22): 333.

https://doi.org/10.1182/blood.V128.22.333.333

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

Germline Mutations in Patients Receiving Unrelated Donor Hematopoietic Cell Transplant for Severe Aplastic Anemia

Shahinaz M. Gadalla, MD PhD MSC, Bari J Ballew, PhD, Michael D Haagenson, MS, Stephen R. Spellman, MBS, Belynda Hicks, Blanche P Alter, MD MPH, Bin Zhu, PhD, Weiyin Zhou, MS, Meredith Yeager, PhD, Tao Wang, PhD, Katharina Fleischhauer, MD, Katharine C. Hsu, MD PhD, Michael R. Verneris, MD, Neal Freedman, PhD MPH, Stephanie J. Lee, MD, Sharon A Savage, MD FAAP

Blood (2016) 128 (22): 68.

https://doi.org/10.1182/blood.V128.22.68.68

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

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

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

Understanding Neutropenia: The 20 Year Experience of the Severe Chronic Neutropenia International Registry (SCNIR)

David C. Dale, MD, Audrey Anna Bolyard, RN, BS, Cornelia Zeidler, MDMPH, Tracy M. Marrero, Laurence A. Boxer, MD, Peter E. Newburger, MD, Blanche P. Alter, MD MPH, PK Morrow, MD, Mary Ann Bonilla, MD, Yigal Dror, MD FRCP(C), Frank Firkin, MBBS PhDFRACP FRCPA, Sally Kinsey, MD, John E. Levine, MD MS, Daniel C. Link, MD, Lee Reeves, Philip S. Rosenberg, PhD, Akiko Shimamura, MD PhD, Karl Welte, MD

Blood (2014) 124 (21): 2730.

https://doi.org/10.1182/blood.V124.21.2730.2730

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

NARROW

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

Disease Progression and Outcomes in Patients with Telomere Biology Disorders

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

Myelodysplasia, Leukemia, Lymphoid Malignancies, and Other Cancers in Patients with Severe Chronic Neutropenia

MDS and AML in Shwachman-Diamond Syndrome: Clinical Features and Outcomes

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

Myelodysplastic Syndrome and Gastrointestinal Carcinomas Characterize the Cancer Risk in Diamond Blackfan Anemia: A Report from the Diamond Blackfan Anemia Registry

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

Germline Mutations in Patients Receiving Unrelated Donor Hematopoietic Cell Transplant for Severe Aplastic Anemia

Novel Fanci Mutations in Fanconi Anemia with Vacterl Association

Fertility and Pregnancy Outcomes in Females with Dyskeratosis Congenita

Telomere Length in Inherited Bone Marrow Failure Syndromes

De Novo RPS20 Mutations in Diamond Blackfan Anemia

Understanding Neutropenia: The 20 Year Experience of the Severe Chronic Neutropenia International Registry (SCNIR)

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

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American Society of Hematology

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American Society of Hematology

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