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3′UTR-truncated Hmga2 cDNA causes MPN-like hematopoiesis by conferring a clonal growth advantage at the level of HSC in mice

Blood, 2011-06, Vol.117 (22), p.5860-5869

2011

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Baseline characteristics and disease burden in patients in the International Paroxysmal Nocturnal Hemoglobinuria Registry

Haematologica (Roma), 2014-05, Vol.99 (5), p.922

2014

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Genetic predisposition syndromes: When should they be considered in the work-up of MDS?

Best practice & research. Clinical haematology, 2015-03, Vol.28 (1), p.55-68

2015

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Inherited bone marrow failure syndromes in adolescents and young adults

Annals of medicine (Helsinki), 2014-09, Vol.46 (6), p.353-363

2014

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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Nature (London), 2001-09, Vol.413 (6854), p.432-435

2001

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The role of human ribosomal proteins in the maturation of rRNA and ribosome production

RNA (Cambridge), 2008-09, Vol.14 (9), p.1918-1929

2008

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Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients

Blood, 2013-08, Vol.122 (6), p.912-921

2013

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A Pathogenic Dyskerin Mutation Impairs Proliferation and Activates a DNA Damage Response Independent of Telomere Length in Mice

Proceedings of the National Academy of Sciences - PNAS, 2008-07, Vol.105 (29), p.10173-10178

2008

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Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia

PloS one, 2015-08, Vol.10 (8), p.e0134878-e0134878

2015

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Acquired Aplastic Anemia in Children

The Pediatric clinics of North America, 2013-12, Vol.60 (6), p.1311-1336

2013

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Mouse Dyskerin Mutations Affect Accumulation of Telomerase RNA and Small Nucleolar RNA, Telomerase Activity, and Ribosomal RNA Processing

Proceedings of the National Academy of Sciences - PNAS, 2004-07, Vol.101 (29), p.10756-10761

2004

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In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature

PloS one, 2015-10, Vol.10 (10), p.e0140036-e0140036

2015

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Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients

PloS one, 2015-05, Vol.10 (5), p.e0127414-e0127414

2015

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Mice with a Mutation in the Mdm2 Gene That Interferes with MDM2/Ribosomal Protein Binding Develop a Defect in Erythropoiesis

PloS one, 2016-04, Vol.11 (4), p.e0152263

2016

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Somatic HLA mutations expose the role of class I–mediated autoimmunity in aplastic anemia and its clonal complications

Blood advances, 2017-10, Vol.1 (22), p.1900-1910

2017

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Somatic Loss of HLA Class I Alleles Is a Common Genetic Alteration in Acquired Aplastic Anemia and Reveals Aplastic Anemia Risk Alleles

Blood, 2016-12, Vol.128 (22), p.730-730

2016

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Accelerated hematopoietic stem cell aging in a mouse model of dyskeratosis congenita responds to antioxidant treatment

Aging cell, 2011-04, Vol.10 (2), p.338-348

2011

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Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia

Cancer genetics, 2016-01, Vol.209 (1), p.1-10

2016

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The Effect of TERC Haploinsufficiency on the Inheritance of Telomere Length

Proceedings of the National Academy of Sciences - PNAS, 2005-11, Vol.102 (47), p.17119-17124

2005

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Dyskerin Ablation in Mouse Liver Inhibits rRNA Processing and Cell Division

Molecular and Cellular Biology, 2010-01, Vol.30 (2), p.413-422

2010

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Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients

PloS one, 2014-01, Vol.9 (1), p.e85504-e85504

2014

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Dyskerin, telomerase and the DNA damage response

Cell cycle (Georgetown, Tex.), 2009-01, Vol.8 (1), p.6-10

2009

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Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes

British journal of haematology, 2014-01, Vol.164 (1), p.73-82

2014

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Natural History of Paroxysmal Nocturnal Hemoglobinuria

The New England journal of medicine, 1995-11, Vol.333 (19), p.1253-1259

1995

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Somatic Mutations in Paroxysmal Nocturnal Hemoglobinuria: A Blessing in Disguise?

Cell, 1997-01, Vol.88 (1), p.1-4

1997

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3′UTR-truncated Hmga2 cDNA causes MPN-like hematopoiesis by conferring a clonal growth advantage at the level of HSC in mice

Baseline characteristics and disease burden in patients in the International Paroxysmal Nocturnal Hemoglobinuria Registry

Genetic predisposition syndromes: When should they be considered in the work-up of MDS?

Inherited bone marrow failure syndromes in adolescents and young adults

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

The role of human ribosomal proteins in the maturation of rRNA and ribosome production

Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients

A Pathogenic Dyskerin Mutation Impairs Proliferation and Activates a DNA Damage Response Independent of Telomere Length in Mice

Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia

Acquired Aplastic Anemia in Children

Mouse Dyskerin Mutations Affect Accumulation of Telomerase RNA and Small Nucleolar RNA, Telomerase Activity, and Ribosomal RNA Processing

In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature

Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients

Mice with a Mutation in the Mdm2 Gene That Interferes with MDM2/Ribosomal Protein Binding Develop a Defect in Erythropoiesis

Somatic HLA mutations expose the role of class I–mediated autoimmunity in aplastic anemia and its clonal complications

Somatic Loss of HLA Class I Alleles Is a Common Genetic Alteration in Acquired Aplastic Anemia and Reveals Aplastic Anemia Risk Alleles

Accelerated hematopoietic stem cell aging in a mouse model of dyskeratosis congenita responds to antioxidant treatment

Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia

The Effect of TERC Haploinsufficiency on the Inheritance of Telomere Length

Dyskerin Ablation in Mouse Liver Inhibits rRNA Processing and Cell Division

Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients

Dyskerin, telomerase and the DNA damage response

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes

Natural History of Paroxysmal Nocturnal Hemoglobinuria

Somatic Mutations in Paroxysmal Nocturnal Hemoglobinuria: A Blessing in Disguise?

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