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Journal Articles

Whole Genome Sequencing of Diamond Blackfan Anemia Syndrome Patients Detects Mutations That Alter mRNA Splicing

Stanley R Clarke, Adrianna Vlachos, Jens Lichtenberg, Nancy E Seidel, Jaya Jagadeesh, NISC Comparative SequencingProgram, Adam M. Phillippy, Jason E Farrar, Steven R Ellis, Irma Dianzani, Jeffrey M Lipton, David M Bodine

Blood (2021) 138 (Supplement 1): 863.

https://doi.org/10.1182/blood-2021-145622

Published: 2021

Journal Articles

Molecular convergence in ex vivo models of Diamond-Blackfan anemia

Kelly A. O'Brien, Jason E. Farrar, Adrianna Vlachos, Stacie M. Anderson, Crystiana A. Tsujiura, Jens Lichtenberg, Lionel Blanc, Eva Atsidaftos, Abdel Elkahloun, Xiuli An, Steven R. Ellis, Jeffrey M. Lipton, David M. Bodine

Blood (2017) 129 (23): 3111–3120.

https://doi.org/10.1182/blood-2017-01-760462

Published: 2017

Includes: Supplemental data

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

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

Blood (2014) 124 (1): 24–32.

https://doi.org/10.1182/blood-2013-11-540278

Published: 2014

Includes: Supplemental data

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

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q− syndrome

Adrianna Vlachos, Jason E. Farrar, Eva Atsidaftos, Ellen Muir, Anupama Narla, Thomas C. Markello, Sharon A. Singh, Michael Landowski, Hanna T. Gazda, Lionel Blanc, Johnson M. Liu, Steven R. Ellis, Robert J. Arceci, Benjamin L. Ebert, David M. Bodine, Jeffrey M. Lipton

Blood (2013) 122 (14): 2487–2490.

https://doi.org/10.1182/blood-2013-06-509935

Published: 2013

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

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

Ribosomal protein gene deletions in Diamond-Blackfan anemia

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

Blood (2011) 118 (26): 6943–6951.

https://doi.org/10.1182/blood-2011-08-375170

Published: 2011

Journal Articles

DBA, del(5q): a reciprocal relationship

Steven R. Ellis

Blood (2011) 118 (8): 2032–2033.

https://doi.org/10.1182/blood-2011-05-352575

Published: 2011

Journal Articles

Drawing to a Diamond flush

Steven R. Ellis

Blood (2011) 117 (9): 2558–2559.

https://doi.org/10.1182/blood-2010-12-320036

Published: 2011

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

Finding a diamond in the (mouse is) rough

Adrianna L. Henson, Steven R. Ellis

Blood (2010) 116 (15): 2623–2625.

https://doi.org/10.1182/blood-2010-07-296780

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

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

Blood (2008) 112 (5): 1582–1592.

https://doi.org/10.1182/blood-2008-02-140012

Published: 2008

Includes: Supplemental data

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

Human RPS19 , the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

Johan Flygare, Anna Aspesi, Joshua C. Bailey, Koichi Miyake, Jacqueline M. Caffrey, Stefan Karlsson, Steven R. Ellis

Blood (2006) 109 (3): 980–986.

https://doi.org/10.1182/blood-2006-07-038232

Published: 2006

NARROW

Whole Genome Sequencing of Diamond Blackfan Anemia Syndrome Patients Detects Mutations That Alter mRNA Splicing

Molecular convergence in ex vivo models of Diamond-Blackfan anemia

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

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

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

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q− syndrome

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

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

Ribosomal protein gene deletions in Diamond-Blackfan anemia

DBA, del(5q): a reciprocal relationship

Drawing to a Diamond flush

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

Finding a diamond in the (mouse is) rough

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

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

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

Defective Ribosomal RNA Maturation in Patients with Diamond Blackfan Anemia.

Human RPS19 , the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

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American Society of Hematology

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American Society of Hematology

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