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Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.
van Kuilenburg ABP, Pleunis-van Empel MCH, Brouwer RB, Sijben AEJ, Knapen DG, Oude Munnink TH, van Zanden JJ, Janssens-Puister J, Dobritzsch D, Meinsma R, Meijer-Jansen J, van Dooren SJM, Vijzelaar R, Pop A, Salomons GS, Maring JG, Niezen-Koning KE. van Kuilenburg ABP, et al. Among authors: vijzelaar r. JCO Precis Oncol. 2024 May;8:e2300599. doi: 10.1200/PO.23.00599. JCO Precis Oncol. 2024. PMID: 38709992
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Haer-Wigman L, den Ouden A, van Genderen MM, Kroes HY, Verheij J, Smailhodzic D, Hoekstra AS, Vijzelaar R, Blom J, Derks R, Tjon-Pon-Fong M, Yntema HG, Nelen MR, Vissers LELM, Lugtenberg D, Neveling K. Haer-Wigman L, et al. Among authors: vijzelaar r. NPJ Genom Med. 2022 Nov 9;7(1):65. doi: 10.1038/s41525-022-00334-9. NPJ Genom Med. 2022. PMID: 36351915 Free PMC article.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S. Wissinger B, et al. Among authors: vijzelaar r. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119. Epub 2022 Jun 27. Proc Natl Acad Sci U S A. 2022. PMID: 35759666 Free PMC article.
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis.
Bos JW, Groen EJN, Wadman RI, Curial CAD, Molleman NN, Zegers M, van Vught PWJ, Snetselaar R, Vijzelaar R, van der Pol WL, van den Berg LH. Bos JW, et al. Among authors: vijzelaar r. Neurol Genet. 2021 Jun 22;7(4):e598. doi: 10.1212/NXG.0000000000000598. eCollection 2021 Aug. Neurol Genet. 2021. PMID: 34169148 Free PMC article.
40 results