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In this study, <jats:italic>DDX41<\/jats:italic> mutations were identified in 0.8% of myeloid neoplasms, 0.9% of acute lymphoblastic leukemia (ALL), and 1.0% of aplastic anemia (AA). A total of 15 causal <jats:italic>DDX41<\/jats:italic> variants in 14 patients were detected; seven of which have not been reported previously. In myeloid neoplasms, the median age of patients with germline missense was lower than that of germline nonsense mutations. In ALL, the characteristics of <jats:italic>DDX41<\/jats:italic> mutation were distinct. This study first reported <jats:italic>DDX41<\/jats:italic> mutations in ALL and AA, expanding its mutation and phenotypic spectrum.<\/jats:p>","DOI":"10.1002\/jha2.256","type":"journal-article","created":{"date-parts":[[2021,6,27]],"date-time":"2021-06-27T10:39:21Z","timestamp":1624790361000},"page":"508-513","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Next\u2010generation sequencing reveals the presence of <i>DDX41<\/i> mutations in acute lymphoblastic leukemia and aplastic anemia"],"prefix":"10.1002","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5794-5185","authenticated-orcid":false,"given":"Yang","family":"Zhang","sequence":"first","affiliation":[{"name":"Divison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital  Langfang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Wang","sequence":"additional","affiliation":[{"name":"Divison of Laboratory 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