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Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K. Schoenmakers E, et al. Among authors: groeneveld m. J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15. J Clin Invest. 2010. PMID: 21084748 Free PMC article.
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK. Lindhurst MJ, et al. Among authors: groeneveld mp. Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332. Nat Genet. 2012. PMID: 22729222 Free PMC article.
The DRAGON benchmark for clinical NLP.
Bosma JS, Dercksen K, Builtjes L, André R, Roest C, Fransen SJ, Noordman CR, Navarro-Padilla M, Lefkes J, Alves N, de Grauw MJJ, van Eekelen L, Spronck JMA, Schuurmans M, de Wilde B, Hendrix W, Aswolinskiy W, Saha A, Twilt JJ, Geijs D, Veltman J, Yakar D, de Rooij M, Ciompi F, Hering A, Geerdink J, Huisman H; DRAGON consortium. Bosma JS, et al. NPJ Digit Med. 2025 May 17;8(1):289. doi: 10.1038/s41746-025-01626-x. NPJ Digit Med. 2025. PMID: 40379835 Free PMC article.
Evaluating Biparametric Versus Multiparametric Magnetic Resonance Imaging for Diagnosing Clinically Significant Prostate Cancer: An International, Paired, Noninferiority, Confirmatory Observer Study.
Twilt JJ, Saha A, Bosma JS, van Ginneken B, Bjartell A, Padhani AR, Bonekamp D, Villeirs G, Salomon G, Giannarini G, Kalpathy-Cramer J, Barentsz J, Maier-Hein KH, Rusu M, Rouvière O, van den Bergh R, Panebianco V, Kasivisvanathan V, Obuchowski NA, Yakar D, Elschot M, Veltman J, Fütterer JJ, Huisman H, de Rooij M; PI-CAI Consortium / list of collaborators. Twilt JJ, et al. Eur Urol. 2025 Feb;87(2):240-250. doi: 10.1016/j.eururo.2024.09.035. Epub 2024 Oct 22. Eur Urol. 2025. PMID: 39438187 Free PMC article.
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