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Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort

Haematologica (Roma), 2023-01, Vol.108 (1), p.69

2023

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Germline GATA2 Mutation and Bone Marrow Failure

Hematology/oncology clinics of North America, 2018-08, Vol.32 (4), p.713-728

2018

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Pediatric leukemia susceptibility disorders: manifestations and management

Hematology, 2017-12, Vol.2017 (1), p.242-250

2017

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Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Journal of hematology and oncology, 2024-04, Vol.17 (1), p.26-26, Article 26

2024

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Prognostic impact of pre-transplant chromosomal aberrations in peripheral blood of patients undergoing unrelated donor hematopoietic cell transplant for acute myeloid leukemia

Scientific reports, 2021-07, Vol.11 (1), p.15004-15004, Article 15004

2021

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Inherited bone marrow failure syndromes: a review of current practices and potential future research directions

Current opinion in pediatrics, 2023-02, Vol.35 (1), p.75

2023

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From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development

Clinical pharmacology and therapeutics, 2024-07

2024

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Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report

BMC medical genetics, 2018-05, Vol.19 (1), p.85-85, Article 85

2018

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Genotype-phenotype associations in Fanconi anemia: A literature review

Blood reviews, 2019-09, Vol.37, p.100589-100589, Article 100589

2019

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Fanconi anaemia: A syndrome with distinct subgroups

British journal of haematology, 2022-05, Vol.197 (4), p.467-474

2022

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Disease progression and clinical outcomes in telomere biology disorders

Blood, 2022-03, Vol.139 (12), p.1807-1819

2022

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Patellin1, a novel sec14-like protein, localizes to the cell plate and binds phosphoinositides

Plant physiology (Bethesda), 2004-10, Vol.136 (2), p.3080-3094

2004

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GATA2 deficiency

Current opinion in allergy and clinical immunology, 2015-02, Vol.15 (1), p.104-109

2015

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Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia

Familial cancer, 2024-06

2024

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The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature

Molecular genetics & genomic medicine, 2021-07, Vol.9 (7), p.e1693-n/a

2021

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Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features

Pediatric research, 2022-12, Vol.92 (6), p.1671-1680

2022

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Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17

Human mutation, 2022-12, Vol.43 (12), p.1856-1859

2022

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Gata2 deficiency delays leukemogenesis while contributing to aggressive leukemia phenotype in Cbfb-MYH11 knockin mice

Leukemia, 2020-03, Vol.34 (3), p.759-770

2020

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Risk of cancer in heterozygous relatives of patients with Fanconi anemia

Genetics in medicine, 2022-01, Vol.24 (1), p.245-250

2022

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Gata2 deficiency delays leukemogenesis while contributing to aggressive leukemia phenotype in Cbfb-MYH11 knockin mice

Leukemia, 2020-03, Vol.34 (3), p.759-770

2020

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Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

Blood, 2022-08, Vol.140 (8), p.909-921

2022

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Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study

Genetics in medicine, 2024-03, Vol.26 (3), p.101042, Article 101042

2024

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Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation

Leukemia research reports, 2019-01, Vol.12, p.100176, Article 100176

2019

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Yaf2 Inhibits Caspase 8-mediated Apoptosis and Regulates Cell Survival during Zebrafish Embryogenesis

The Journal of biological chemistry, 2006-09, Vol.281 (39), p.28782-28793

2006

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Using the zebrafish model to study GATA transcription factors

Seminars in cell & developmental biology, 2005-02, Vol.16 (1), p.95-106

2005

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Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort

Germline GATA2 Mutation and Bone Marrow Failure

Pediatric leukemia susceptibility disorders: manifestations and management

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Prognostic impact of pre-transplant chromosomal aberrations in peripheral blood of patients undergoing unrelated donor hematopoietic cell transplant for acute myeloid leukemia

Inherited bone marrow failure syndromes: a review of current practices and potential future research directions

From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report

Genotype-phenotype associations in Fanconi anemia: A literature review

Fanconi anaemia: A syndrome with distinct subgroups

Disease progression and clinical outcomes in telomere biology disorders

Patellin1, a novel sec14-like protein, localizes to the cell plate and binds phosphoinositides

GATA2 deficiency

Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features

Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17

Gata2 deficiency delays leukemogenesis while contributing to aggressive leukemia phenotype in Cbfb-MYH11 knockin mice

Risk of cancer in heterozygous relatives of patients with Fanconi anemia

Gata2 deficiency delays leukemogenesis while contributing to aggressive leukemia phenotype in Cbfb-MYH11 knockin mice

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study

Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation

Yaf2 Inhibits Caspase 8-mediated Apoptosis and Regulates Cell Survival during Zebrafish Embryogenesis

Using the zebrafish model to study GATA transcription factors

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