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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

Mutations In TCAB1 Cause Dyskeratosis Congenita

Sharon A Savage, MD, Franklin Zhong, Neelam Giri, MD, Lea Jessop, PhD, Timothy Myers, Renee Chen, MA, Blanche P Alter, Steven Artandi, MD, PhD
Journal: Blood
Blood (2010) 116 (21): 197.
https://doi.org/10.1182/blood.V116.21.197.197
Published: 2010