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Accessible viral metagenomics for public health and clinical domains with Jovian.
Schmitz D, Zwagemaker F, Nooij S, Janssens TKS, Cremer J, Verhagen R, Vennema H, Kroneman A, Koopmans MPG, Laros JFJ, de Graaf M. Schmitz D, et al. Among authors: verhagen r. Sci Rep. 2024 Oct 29;14(1):26018. doi: 10.1038/s41598-024-73785-y. Sci Rep. 2024. PMID: 39472593 Free PMC article.
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A. Lecoquierre F, et al. Among authors: verhagen r. Genet Med. 2024 Jun;26(6):101119. doi: 10.1016/j.gim.2024.101119. Epub 2024 Mar 7. Genet Med. 2024. PMID: 38465576 Free PMC article.
148 results