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MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians.
van der Velde KJ, Imhann F, Charbon B, Pang C, van Enckevort D, Slofstra M, Barbieri R, Alberts R, Hendriksen D, Kelpin F, de Haan M, de Boer T, Haakma S, Stroomberg C, Scholtens S, van de Geijn GJ, Festen EAM, Weersma RK, Swertz MA. van der Velde KJ, et al. Among authors: slofstra m. Bioinformatics. 2019 Mar 15;35(6):1076-1078. doi: 10.1093/bioinformatics/bty742. Bioinformatics. 2019. PMID: 30165396 Free PMC article.
Metabolic Age Based on the BBMRI-NL 1H-NMR Metabolomics Repository as Biomarker of Age-related Disease.
van den Akker EB, Trompet S, Barkey Wolf JJH, Beekman M, Suchiman HED, Deelen J, Asselbergs FW, Boersma E, Cats D, Elders PM, Geleijnse JM, Ikram MA, Kloppenburg M, Mei H, Meulenbelt I, Mooijaart SP, Nelissen RGHH, Netea MG, Penninx BWJH, Slofstra M, Stehouwer CDA, Swertz MA, Teunissen CE, Terwindt GM, 't Hart LM, van den Maagdenberg AMJM, van der Harst P, van der Horst ICC, van der Kallen CJH, van Greevenbroek MMJ, van Spil WE, Wijmenga C, Zhernakova A, Zwinderman AH, Sattar N, Jukema JW, van Duijn CM, Boomsma DI, Reinders MJT, Slagboom PE. van den Akker EB, et al. Among authors: slofstra m. Circ Genom Precis Med. 2020 Oct;13(5):541-547. doi: 10.1161/CIRCGEN.119.002610. Epub 2020 Aug 14. Circ Genom Precis Med. 2020. PMID: 33079603
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Fokkema IFAC, van der Velde KJ, Slofstra MK, Ruivenkamp CAL, Vogel MJ, Pfundt R, Blok MJ, Lekanne Deprez RH, Waisfisz Q, Abbott KM, Sinke RJ, Rahman R, Nijman IJ, de Koning B, Thijs G, Wieskamp N, Moritz RJG, Charbon B, Saris JJ, den Dunnen JT, Laros JFJ, Swertz MA, van Gijn ME. Fokkema IFAC, et al. Among authors: slofstra mk. Hum Mutat. 2019 Dec;40(12):2230-2238. doi: 10.1002/humu.23896. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31433103 Free PMC article.
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I. Van Gijn ME, et al. Among authors: slofstra m. J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29. J Med Genet. 2018. PMID: 29599418