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Lisa Mirabello
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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

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
Journal: Blood
Blood (2014) 124 (21): 2667.
https://doi.org/10.1182/blood.V124.21.2667.2667
Published: 2014
Journal Articles

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Lisa Mirabello, Elizabeth R. Macari, Lea Jessop, Steven R. Ellis, Timothy Myers, Neelam Giri, Alison M. Taylor, Katherine E. McGrath, Jessica M. Humphries, Bari J. Ballew, Meredith Yeager, Joseph F. Boland, Ji He, Belynda D. Hicks, Laurie Burdett, Blanche P. Alter, Leonard Zon, Sharon A. Savage
Journal: Blood
Blood (2014) 124 (1): 24–32.
https://doi.org/10.1182/blood-2013-11-540278
Published: 2014
Includes: Supplemental data
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
Journal: Blood
Blood (2013) 122 (21): 2465.
https://doi.org/10.1182/blood.V122.21.2465.2465
Published: 2013
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
Journal: Blood
Blood (2012) 120 (21): 511.
https://doi.org/10.1182/blood.V120.21.511.511
Published: 2012