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Distinct routes of lineage development reshape the human blood hierarchy across ontogeny

Science (American Association for the Advancement of Science), 2016-01, Vol.351 (6269), p.139-139

2016

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Shwachman-Diamond syndrome

Pediatric blood & cancer, 2005-12, Vol.45 (7), p.892-901

Dror, Yigal

2005

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Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

Blood, 2017-03, Vol.129 (11), p.1557-1562

2017

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Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

Annals of the New York Academy of Sciences, 2011-12, Vol.1242 (1), p.40-55

2011

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The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development

Frontiers in immunology, 2021-10, Vol.12, p.748519-748519

2021

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P329: A homozygous start-loss mutation in TERF1 causes a syndrome associated with long telomeres

Genetics in Medicine Open, 2024, Vol.2, p.101223, Article 101223

2024

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Transient erythroblastopenia of childhood is an underdiagnosed and self-limiting disease

Acta Paediatrica, 2014-07, Vol.103 (7), p.e288-e294

2014

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Response to comments from Drs. Alter and Rosenberg

Haematologica (Roma), 2015-09, Vol.100 (9), p.e381

2015

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Response to treatment with azacitidine in children with advanced myelodysplastic syndrome prior to hematopoietic stem cell transplantation

Haematologica (Roma), 2016-12, Vol.101 (12), p.1508

2016

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P302: Decoding genetic orchestration: Understanding the cellular and molecular mechanisms of the hematopoietic failure in Fanconi anemia

Genetics in Medicine Open, 2024, Vol.2, p.101198, Article 101198

2024

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SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway

Haematologica (Roma), 2008-03, Vol.93 (3), p.363-371

2008

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Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway

Blood, 2001-05, Vol.97 (10), p.3011-3016

2001

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Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis

Haematologica (Roma), 2008-11, Vol.93 (11), p.1617-1626

2008

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Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

The Journal of pediatrics, 1999-07, Vol.135 (1), p.81-88

1999

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Outcome of children with aplastic anemia treated with immunosuppressive therapy

Pediatric Blood & Cancer, 2008-01, Vol.50 (1), p.52-57

2008

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A Zebrafish Model of Dnajc21 Deficiency Identifies Essential Roles in Granulocyte Differentiation and Metabolic Regulation

Blood, 2022-11, Vol.140 (Supplement 1), p.5818-5818

2022

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The clinical impact of copy number variants in inherited bone marrow failure syndromes

Npj genomic medicine, 2017-05, Vol.2 (1), p.1-8, Article 18

2017

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Zebrafish Models Provide Novel Insights into the Disease Biology of Parn-Mutant Dyskeratosis Congenita and DNAJC21-Mutant Shwachman-Diamond Syndrome

Blood, 2021-11, Vol.138 (Supplement 1), p.1110-1110

2021

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Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure

Pediatric blood & cancer, 2023-06, Vol.70 (6), p.e30253-n/a

2023

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Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol

Pediatric pulmonology, 2015-12, Vol.50 (12), p.E48-E51

2015

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Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia

Expert reviews in molecular medicine, 2008-12, Vol.10, p.e38-e38, Article e38

Dror, Yigal

2008

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Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

Blood, 2019-11, Vol.134 (Supplement_1), p.3744-3744

2019

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APLASTIC ANEMIA FOLLOWING VARICELLA VACCINE

The Pediatric infectious disease journal, 2009-08, Vol.28 (8), p.746-748

2009

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Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol: Treatment of Dyskeratosis Congenita-Associated Pulmonary Fibrosis

Pediatric pulmonology, 2015-12, Vol.50 (12), p.E48-E51

2015

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Distinct routes of lineage development reshape the human blood hierarchy across ontogeny

Shwachman-Diamond syndrome

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development

P329: A homozygous start-loss mutation in TERF1 causes a syndrome associated with long telomeres

Transient erythroblastopenia of childhood is an underdiagnosed and self-limiting disease

Response to comments from Drs. Alter and Rosenberg

Response to treatment with azacitidine in children with advanced myelodysplastic syndrome prior to hematopoietic stem cell transplantation

P302: Decoding genetic orchestration: Understanding the cellular and molecular mechanisms of the hematopoietic failure in Fanconi anemia

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes

SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway

Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway

Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis

Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

Outcome of children with aplastic anemia treated with immunosuppressive therapy

A Zebrafish Model of Dnajc21 Deficiency Identifies Essential Roles in Granulocyte Differentiation and Metabolic Regulation

The clinical impact of copy number variants in inherited bone marrow failure syndromes

Zebrafish Models Provide Novel Insights into the Disease Biology of Parn-Mutant Dyskeratosis Congenita and DNAJC21-Mutant Shwachman-Diamond Syndrome

Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure

Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol

Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

APLASTIC ANEMIA FOLLOWING VARICELLA VACCINE

Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol: Treatment of Dyskeratosis Congenita-Associated Pulmonary Fibrosis

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