{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T04:46:11Z","timestamp":1782449171639,"version":"3.54.5"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T00:00:00Z","timestamp":1782345600000},"content-version":"vor","delay-in-days":175,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100019854","name":"Greater Copenhagen Health Science Partners","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019854","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Germline\n                    <jats:italic>DDX41<\/jats:italic>\n                    variants are found in up to 4% of patients with acute myeloid leukemia (AML) and myelodysplastic neoplasms (MDSs), with a higher prevalence among males and a late onset. In this study, we analyzed 647 Danish patients with suspected myeloid neoplasms to assess the frequency of germline\n                    <jats:italic>DDX41<\/jats:italic>\n                    variants and the functional impact of variants of uncertain significance (VUSs) using a cell\u2010based assay, CRISPR\u2010Select. We identified 16\n                    <jats:italic>DDX41<\/jats:italic>\n                    variants in 30 patients, 14 of whom were confirmed or predicted as germline variants. Eight germline variants were classified as likely pathogenic\/pathogenic (LP\/P), and three as VUSs. We generated a monoallelic\n                    <jats:italic>DDX41<\/jats:italic>\n                    K562 cell line and used it for CRISPR\u2010Select assessment of variant effects on proliferation and survival. Pathogenic variants impaired proliferation, while benign variants did not. Missense variants had a more subtle effect than truncating ones, suggesting hypomorphic phenotypes. One\n                    <jats:italic>DDX41<\/jats:italic>\n                    VUS had a significant negative effect on proliferation, suggesting it to be pathogenic, while the other two had no effect, suggesting them to be benign. These findings confirm a 2.4% frequency of LP\/P DDX41 germline variants in Danish patients and demonstrate the value of CRISPR\u2010Select in distinguishing pathogenic from benign variants.\n                  <\/jats:p>","DOI":"10.1155\/humu\/3758915","type":"journal-article","created":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T03:56:52Z","timestamp":1782446212000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Exploring the Functional Impact of Individual\n                    <i>DDX41<\/i>\n                    Variants With a Fast and Robust Cell\u2010Based Method"],"prefix":"10.1155","volume":"2026","author":[{"given":"Nikolaj Juul","family":"Nitschke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwa","family":"Almosailleakh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Issa Ismail","family":"Issa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1873-8016","authenticated-orcid":false,"given":"Clara Amanda","family":"Skov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casper Carstens","family":"Lund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob Werner","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4930-5900","authenticated-orcid":false,"given":"Jakob Schmidt","family":"Jespersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klas","family":"Raaschou-Jensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Sch\u00f6llkopf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne Tang","family":"Severinsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Porse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Weischenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Stidsholt","family":"Roug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette Klarskov","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Fr\u00f6din","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-9601","authenticated-orcid":false,"given":"Kirsten","family":"Gr\u00f8nb\u00e6k","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,25]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2015.03.017"},{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022018221"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2023020209"},{"key":"e_1_2_11_4_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2021015328"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-024-02180-3"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.1080\/16078454.2024.2338509"},{"key":"e_1_2_11_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.19105"},{"key":"e_1_2_11_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.27070"},{"key":"e_1_2_11_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/337121a0"},{"key":"e_1_2_11_10_2","doi-asserted-by":"publisher","DOI":"10.1042\/BST20230725"},{"key":"e_1_2_11_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-27530-y"},{"key":"e_1_2_11_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-022-01708-9"},{"key":"e_1_2_11_13_2","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.119.302973"},{"key":"e_1_2_11_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2021.08.004"},{"key":"e_1_2_11_15_2","doi-asserted-by":"publisher","DOI":"10.1128\/mBio.00923-18"},{"key":"e_1_2_11_16_2","doi-asserted-by":"publisher","DOI":"10.1155\/2023\/4738660"},{"key":"e_1_2_11_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-022-01224-7"},{"key":"e_1_2_11_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_11_19_2","unstructured":"Institute. 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