Mariska Slofstra, BSc

Search results

• 2020

  Genetics and Not Shared Environment Explains Familial Resemblance in Adult Metabolomics Data

  BBMRI Metabol Consortium, Pool, R., Hagenbeek, F. A., Hendriks, A. M., van Dongen, J., Willemsen, G., de Geus, E., van Dijk, K. W., Verhoeven, A., Suchiman, H. E. D., Beekman, M., Slagboom, P. E., Harms, A. C., Hankemeier, T. & Boomsma, D., Jun-2020, In: Twin research and human genetics. 23, 3, p. 145-155 11 p.

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  3 Citations (Scopus)

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• Metabolic Age Based on the BBMRI-NL 1H-NMR Metabolomics Repository as Biomarker of Age-related Disease

  van den Akker, E. B., Trompet, S., Barkey Wolf, J. J. H., Beekman, M., Suchiman, H. E. D., Deelen, J., Asselbergs, F. W., Boersma, E., Cats, D., Elders, P. M., Geleijnse, J. M., Ikram, M. A., Kloppenburg, M., Mei, H., Meulenbelt, I., Mooijaart, S. P., Nelissen, R. G. H. H., Netea, M. G., Penninx, B. W. J. H., Slofstra, M. & 20 others, Stehouwer, C. D. A., Swertz, M. A., Teunissen, C. E., Terwindt, G. M., 't Hart, L. M., van den Maagdenberg, A. M. J. M., van der Harst, P., van der Horst, I. C. C., van der Kallen, C. J. H., van Greevenbroek, M. M. J., van Spil, W. E., Wijmenga, C., Zhernakova, A., Zwinderman, A. H., Sattar, N., Jukema, J. W., van Duijn, C. M., Boomsma, D. I., Reinders, M. J. T. & Slagboom, P. E., Oct-2020, In: Circulation. Genomic and precision medicine. 13, 5, p. 541-547 7 p., e002610.

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  8 Citations (Scopus)

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• 2019

  Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

  Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T. & 3 others, Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec-2019, In: Human Mutation. 40, 12, p. 2230-2238 9 p.

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  16 Citations (Scopus)

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• MOLGENIS Research: Advanced bioinformatics data software for non-bioinformaticians

  van der Velde, K. J., 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, G-J., Festen, E. A. M., Weersma, R. K. & Swertz, M. A., 15-Mar-2019, In: Bioinformatics (Oxford, England). 35, 6, p. 1076-1078 3 p.

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  14 Citations (Scopus)

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• 2018

  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, M. E., Ceccherini, I., Shinar, Y., Carbo, E. C., Slofstra, M., Arostegui, J. I., Sarrabay, G., Rowczenio, D., Omoyimni, E., Balci-Peynircioglu, B., Hoffman, H. M., Milhavet, F., Swertz, M. A. & Touitou, I., Aug-2018, In: JOURNAL OF MEDICAL GENETICS. 55, 8, p. 530-537 8 p.

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  70 Citations (Scopus)