Concepedia

Clonal hematopoiesis in patients with <i>ANKRD26</i> or <i>ETV6</i> germline mutations

Michael W. Drazer, Claire C. Homan, Kai Yu, Marcela Cavalcante de Andrade Silva, Kelsey E. McNeely, Matthew Pozsgai, Maria G. Acevedo-Mendez, Jeremy Segal, Peng Wang, Jinghua Feng,

Blood Advances · 2022 · 25 citations · 9 references

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References

9

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

COSMIC: the Catalogue Of Somatic Mutations In Cancer

John Tate, Sally Bamford, Harry Jubb et al. · Nucleic Acids Research · 2018 · 5.3K citations · Full text

, , +17

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Michael Y. Zhang, Jane E. Churpek, Sioḃán Keel et al. · Nature Genetics · 2015 · 362 citations

, , +16

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Leila Noetzli, Richard Lo, Alisa B. Lee‐Sherick et al. · Nature Genetics · 2015 · 329 citations · Full text

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Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

Patrizia Noris, Silverio Perrotta, Marco Seri et al. · Blood · 2011 · 292 citations · Full text

, , +12