Mariska Slofstra

2024

NMR metabolomics-guided DNA methylation mortality predictors

BBMRI Consortium, Bizzarri, D., Reinders, M. J. T., Kuiper, L., Beekman, M., Deelen, J., van Meurs, J. B. J., van Dongen, J., Pool, R., Boomsma, D. I., Ghanbari, M. & Franke, L., Sept-2024, In: EBioMedicine. 107, 17 p., 105279.

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1 Citation (Scopus)

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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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8 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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60 Citations (Scopus)

128 Downloads (Pure)

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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34 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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72 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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124 Citations (Scopus)

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Mariska Slofstra, BSc

Research output

Search results

NMR metabolomics-guided DNA methylation mortality predictors

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

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

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

MOLGENIS Research: Advanced bioinformatics data software for non-bioinformaticians

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)