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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

Blood (2016) 128 (22): 1495.

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

Published: 2016

Journal Articles

Transcriptome Analysis of Erythroid Cells Cultured from Diamond Blackfan Anemia Patients with Ribosomal and GATA1 Mutations Reveals Dysregulation of Inflammatory Response Genes

Kelly O'Brien, PhD, Adrianna Vlachos, Stacie M. Anderson, Crystiana Tsujiura, Lionel Blanc, PhD, Eva Atsidaftos, MA, NIH Intramural Sequencing Center, Jason E. Farrar, MD, Steven R Ellis, PhD, Jeffrey Michael Lipton, MD PhD, David M. Bodine, PhD

Blood (2015) 126 (23): 3605.

https://doi.org/10.1182/blood.V126.23.3605.3605

Published: 2015

Journal Articles

In Vitro Analysis of Erythroid Cells Derived from the Culture of Diamond Blackfan Anemia Patient CD34+ Cells

Kelly A O'Brien, PhD, Stacie M Anderson, Jason Farrar, MD, Adrianna Vlachos, MD, Eva Atsidaftos, Jeffrey Michael Lipton, MD PhD, Steven R Ellis, PhD, David M. Bodine, PhD

Blood (2014) 124 (21): 744.

https://doi.org/10.1182/blood.V124.21.744.744

Published: 2014

Journal Articles

Autosomal Recessive Diamond-Blackfan Anemia: Identification Of Mutations In MCM2 and Flnb

Kelly A O'Brien, PhD, Nancy E Seidel, Jason Farrar, M.D., Adrianna Vlachos, MD, Nisc Comparative Sequencing Program, Stacie M Anderson, Xiuli An, MD, PhD, Eva Atsidaftos, MS, Harry Malech, MD, Robert J Arceci, M.D., Ph.D., Steven R Ellis, PhD, Jeffrey M. Lipton, MD, PhD, David M. Bodine, PhD

Blood (2013) 122 (21): 589.

https://doi.org/10.1182/blood.V122.21.589.589

Published: 2013

Journal Articles

Suppression of the Hematopoietic Defect in TF-1 Cells Depleted of Shwachman-Diamond Syndrome Protein: Correlation with Decreased eIF6 Levels

Sharon Singh, MD, Lionel Blanc, PhD, Adrianna Henson, Gulay Sezgin, MD, Steven R Ellis, PhD, Johnson M. Liu, MD

Blood (2012) 120 (21): 1270.

https://doi.org/10.1182/blood.V120.21.1270.1270

Published: 2012

Journal Articles

Insights Into Diagnosis and Etiology of Diamond Blackfan Anemia by Analysis of Pre-rRNA Processing

Ross Fisher, MD, Adrianna Henson, Paola Quarello, MD, Anna Aspesi, PhD, Jason E Farrar, MD, Robert J. Arceci, MD, PhD, David M. Bodine, PhD, Irma Dianzani, MD PhD, Jeffrey M. Lipton, MD, PhD, Ugo Ramenghi, MD, Adrianna Vlachos, MD, Steven R Ellis, PhD

Blood (2012) 120 (21): 3476.

https://doi.org/10.1182/blood.V120.21.3476.3476

Published: 2012

Journal Articles

SNP Array Genotyping Reveals Constitutional and Mosaic Losses of Ribosomal Protein Gene Regions In Patients with Diamond Blackfan Anemia without Ribosomal Protein Gene Mutations.

Jason E. Farrar, MD, Adrianna Vlachos, MD, Eva Atsidaftos, MS, Hannah Carlson-Donohoe, Steven R. Ellis, PhD, Thomas C. Markello, MD, PhD, Robert J. Arceci, MD, PhD, Jeffrey M. Lipton, MD, PhD, David M. Bodine, PhD

Blood (2010) 116 (21): 1168.

https://doi.org/10.1182/blood.V116.21.1168.1168

Published: 2010

Journal Articles

Yeast Models of Diamond Blackfan Anemia and Shwachman Diamond Syndrome Differ in Their Effect on the Synthesis and Function of Ribosomal Subunits.

Steven R Ellis, PhD, Joseph B. Moore, IV, Johnson M. Liu, MD, Robert J. Arceci, MD, PhD, Jason E. Farrar, MD

Blood (2008) 112 (11): 2044.

https://doi.org/10.1182/blood.V112.11.2044.2044

Published: 2008

Journal Articles

Identification of RPS14 as the 5q-Syndrome Gene by RNA Interference Screen.

Benjamin L. Ebert, MD, PhD, Jennifer Pretz, Jocelyn Bosco, Cindy Y. Chang, Pablo Tamayo, PhD, Naomi Galili, PhD, Azra Raza, MD, David Root, PhD, Eyal Attar, MD, Steven R. Ellis, PhD, Todd R. Golub, MD

Blood (2007) 110 (11): 1.

https://doi.org/10.1182/blood.V110.11.1.1

Published: 2007

Journal Articles

Defective Ribosomal RNA Maturation in Patients with Diamond Blackfan Anemia.

Paola Quarello, MD, Anna Aspesi, Johan Flygare, Stefan Karlsson, MD/PhD, Steven R. Ellis, PhD

Blood (2006) 108 (11): 4172.

https://doi.org/10.1182/blood.V108.11.4172.4172

Published: 2006

Journal Articles

Translation Initiation Defect and Gene Profiles Linked to Depletion of Shwachman-Diamond Syndrome Gene Product.

Johnson M. Liu, MD, Abdallah Nihrane, PhD, Steven R. Ellis, PhD

Blood (2005) 106 (11): 3072.

https://doi.org/10.1182/blood.V106.11.3072.3072

Published: 2005

Journal Articles

Creation of a Ribosomal Protein Sa/ LAMR1 Heterozygous Mouse.

Steven R. Ellis, PhD, Paula M. Logsdon, BS, Junying Han, PhD

Blood (2005) 106 (11): 3551.

https://doi.org/10.1182/blood.V106.11.3551.3551

Published: 2005

Journal Articles

Ribosomal RNA and Gene Expression Abnormalities with Knockdown of the Shwachman-Diamond Syndrome Gene, SBDS .

Abdallah Nihrane, PhD, Steven R. Ellis, PhD, Kazuhiko Yamamoto, MD, PhD, Johnson M. Liu, MD

Blood (2004) 104 (11): 2841.

https://doi.org/10.1182/blood.V104.11.2841.2841

Published: 2004

NARROW

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

Transcriptome Analysis of Erythroid Cells Cultured from Diamond Blackfan Anemia Patients with Ribosomal and GATA1 Mutations Reveals Dysregulation of Inflammatory Response Genes

In Vitro Analysis of Erythroid Cells Derived from the Culture of Diamond Blackfan Anemia Patient CD34+ Cells

Autosomal Recessive Diamond-Blackfan Anemia: Identification Of Mutations In MCM2 and Flnb

Suppression of the Hematopoietic Defect in TF-1 Cells Depleted of Shwachman-Diamond Syndrome Protein: Correlation with Decreased eIF6 Levels

Insights Into Diagnosis and Etiology of Diamond Blackfan Anemia by Analysis of Pre-rRNA Processing

SNP Array Genotyping Reveals Constitutional and Mosaic Losses of Ribosomal Protein Gene Regions In Patients with Diamond Blackfan Anemia without Ribosomal Protein Gene Mutations.

Yeast Models of Diamond Blackfan Anemia and Shwachman Diamond Syndrome Differ in Their Effect on the Synthesis and Function of Ribosomal Subunits.

Identification of RPS14 as the 5q-Syndrome Gene by RNA Interference Screen.

Defective Ribosomal RNA Maturation in Patients with Diamond Blackfan Anemia.

Translation Initiation Defect and Gene Profiles Linked to Depletion of Shwachman-Diamond Syndrome Gene Product.

Creation of a Ribosomal Protein Sa/ LAMR1 Heterozygous Mouse.

Ribosomal RNA and Gene Expression Abnormalities with Knockdown of the Shwachman-Diamond Syndrome Gene, SBDS .

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American Society of Hematology

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ASH Publications

American Society of Hematology

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