Mariska Slofstra

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, blz. 145-155 11 blz.

Onderzoeksoutput › Academic › peer review

Open Access

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5 Citaten (Scopus)

92 Downloads (Pure)

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 anderen, 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., okt.-2020, In: Circulation. Genomic and precision medicine. 13, 5, blz. 541-547 7 blz., e002610.

Onderzoeksoutput › Academic › peer review

Open Access

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42 Citaten (Scopus)

80 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 anderen, Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., dec.-2019, In: Human Mutation. 40, 12, blz. 2230-2238 9 blz.

Onderzoeksoutput › Academic › peer review

Open Access

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29 Citaten (Scopus)

206 Downloads (Pure)

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-mrt.-2019, In: Bioinformatics (Oxford, England). 35, 6, blz. 1076-1078 3 blz.

Onderzoeksoutput › Academic › peer review

Open Access

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48 Citaten (Scopus)

301 Downloads (Pure)

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, blz. 530-537 8 blz.

Onderzoeksoutput › Academic › peer review

Open Access

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111 Citaten (Scopus)

135 Downloads (Pure)

Mariska Slofstra, BSc

Onderzoeksoutput

Zoekresultaten

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)