Research output per year
Research output per year
Fingerprint
Dive into the research topics where Genetic Metabolic Diseases is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Profiles
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Berith Balfoort
- Affiliatie UvA
- Genetic Metabolic Diseases - Visiting Fellow
- Amsterdam Gastroenterology Endocrinology Metabolism
Person: Academic
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Contextualized Interpretation of Machine-Learning Predictions in Rare Disease Omics: Integrating SHAP, Biomedical Knowledge, and Language Models
Daza, D., Jaspers, Y., Bernardi, A., Costabello, L., Gueret, C., Cochez, M., Engelen, M., Kemp, S. & Schut, M., 2027, Artificial Intelligence in Medicine - 24th International Conference, AIME 2026, Proceedings. Andreev, P., Van Woensel, W., Sauré, A. & Holmes, J. (eds.). Springer Science and Business Media Deutschland GmbH, Vol. 16749 LNCS. p. 399-403 5 p. (Lecture Notes in Computer Science; vol. 16749 LNCS).Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › Academic › peer-review
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Alterations in lipid, redox, and energy metabolism in recent onset psychosis: a metabolomics study in non-smoking individuals and matched controls
Dielemans, D. A. M., Sutterland, A. L., Lutter, R., van Weeghel, M., Bourgonje, A. R., Tan, H. L., van Goor, H., Lok, A., van Beveren, N. J. M., de Haan, L. & Hagen, J. M., 1 Feb 2026, In: Redox Biology. 89, 103999.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile84 Downloads (Pure) -
Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies
Mendes, M. I., Smith, D. E., Spek, V., Bosch, A. M., Corpeleijn, W. E., Engelen, M., Fuchs, S. A., Hadchouel, A., Heinemann, I. U., Houtkooper, R. H., Hoytema van Konijnenburg, E. M. M., Kemp, S., Langeveld, M., Karnebeek, C. D. M., Pop, A., Siu, V. M., Wolf, N. I. & Salomons, G. S., May 2026, In: Journal of inherited metabolic disease. 49, 3, e70184.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile6 Downloads (Pure)
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Nature communications (Journal)
Gao, A. (Reviewer)
2023Activity: Publication peer-review and editorial work › Publication peer-review
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Dutch Translational Metabolism Conference 2023
Gao, A. (Participant)
2022 → …Activity: Participating in or organising an event › Participation in conference › Academic
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ALD Alliance (External organisation)
Seeger, E. (Chair) & Kemp, S. (Member)
17 Jan 2021 → …Activity: Membership › Membership of board › Academic
Prizes
Press/Media
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Immuno-metabolic stress responses control longevity from mitochondrial translation inhibition in C. elegans
Molenaars, M., Jaspers, Y. R. J., Schomakers, B. V. & van Weeghel, M.
01/07/2025
1 Media contribution
Press/Media: other
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Integrated multi-omics of feces, plasma and urine can describe and differentiate pediatric active Crohn’s Disease from remission
Koopman, N., Diederen, K., Diederen, K., te Velde, A. A., Kindermann, A., Kindermann, A., Benninga, M. A., de Jonge, W. J., Levin, E. & Kemp, S.
01/07/2025
1 Media contribution
Press/Media: other
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Cholesterol homeostasis and lipid raft dynamics at the basis of tumor-induced immune dysfunction in chronic lymphocytic leukemia
Jacobs, C. F., Kater, A. P., Simon Molas, H., Peters, F. S., Camerini, E., Cretenet, G., Cretenet, G., Schomakers, B. V., van Weeghel, M., Hahn, N., Verberk, S. G. S., Van den Bossche, J., Langeveld, M., Langeveld, M. & Zelcer, N.
01/03/2025
1 Media contribution
Press/Media: other
Datasets
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Additional file 2: of Disease progression in women with X-linked adrenoleukodystrophy is slow
Huffnagel, I. C. (Creator), Dijkgraaf, M. G. W. (Creator), Janssens, G. E. (Creator), Van Weeghel, M. (Contributor), Van Geel, B. M. (Contributor), Poll-The, B. T. (Contributor), Kemp, S. (Creator) & Engelen, M. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7693298.v1, https://springernature.figshare.com/articles/Additional_file_2_of_Disease_progression_in_women_with_X-linked_adrenoleukodystrophy_is_slow/7693298/1
Dataset
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Additional file 2: of Disease progression in women with X-linked adrenoleukodystrophy is slow
Huffnagel, I. C. (Creator), Dijkgraaf, M. G. W. (Creator), Janssens, G. E. (Creator), Van Weeghel, M. (Contributor), Van Geel, B. M. (Contributor), Poll-The, B. T. (Contributor), Kemp, S. (Creator) & Engelen, M. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7693298, https://springernature.figshare.com/articles/Additional_file_2_of_Disease_progression_in_women_with_X-linked_adrenoleukodystrophy_is_slow/7693298
Dataset
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Additional file 1: of Disease progression in women with X-linked adrenoleukodystrophy is slow
Huffnagel, I. C. (Creator), Dijkgraaf, M. G. W. (Creator), Janssens, G. E. (Creator), Van Weeghel, M. (Contributor), Van Geel, B. M. (Contributor), Poll-The, B. T. (Contributor), Kemp, S. (Creator) & Engelen, M. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7693295, https://springernature.figshare.com/articles/Additional_file_1_of_Disease_progression_in_women_with_X-linked_adrenoleukodystrophy_is_slow/7693295
Dataset