Research output per year
Research output per year
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Dive into the research topics where Sophie Uyttebroeck is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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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
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Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism
Uyttebroeck, S., Ngoc, D. V., Osei, R., Dohr, K., Giron, P., Dequeker, B. J. H., Seneca, S., Sermon, K., Hes, F. J. & Gheldof, A., Jan 2026, In: Genes&Diseases. 13, 1, 4 p., 101738.Research output: Contribution to journal › Article › peer-review
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A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier
Uyttebroeck, S., Vlaeminck, J., De Schutter, E., Cordenier, A., Wellekens, S. A., Ströker, E., De Rooms, K., Helsen, C., Hes, F. J. & Giron, P., 14 Mar 2025, (Unpublished). 1 p.Research output: Unpublished contribution to conference › Poster
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Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier
Vlaeminck, J., Uyttebroeck, S., De Schutter, E., Cordenier, A., Wellekens, S. A., Ströker, E., De Rooms, K., Helsen, C., Hes, F. J. & Giron, P., 18 Jun 2025, In: Frontiers in Genetics. 16, p. 1-8 8 p., 1597851.Research output: Contribution to journal › Article › peer-review
Open Access -
Genetic variants associated with ventricular arrhythmias during ajmaline test in Brugada syndrome
Audiat, C., Pannone, L., Sorgente, A., Vergara, P., Della Rocca, D., Eltsov, I., Pappaert, G., Overeinder, I., Bala, G., Almorad, A., Ströker, E., La Meir, M., Gharaviri, A., De Schutter, E., Vlaeminck, J., Helsen, C., Uyttebroeck, S., Van Dooren, S., Pölsler, L. & Giron, P. & 5 others, , 1 Oct 2025, In: EP Europace. 27, 10, 4 p., euaf162.Research output: Contribution to journal › Article › peer-review
Open Access -
Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants
Van Der Kelen, A., Uyttebroeck, S., Van de Voorde, S. R., Picchetta, L., Segers, I., Vlaeminck, J., Dequeker, B., Giron, P., Capalbo, A., Verpoest, W., Hes, F. J., Verdyck, P. & Gheldof, A., Mar 2025, In: Journal of Assisted Reproduction and Genetics. 42, 3, p. 763-771 9 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus)
Activities
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Cardio Genomics Conference 2025
Vlaeminck, J. (Participant) & Uyttebroeck, S. (Participant)
5 Dec 2025 → 6 Dec 2025Activity: Participating in or organising an event › Participation in conference
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Dag van de Zorg 2024
Giron, P. (Member of programme committee), Uyttebroeck, S. (Member of programme committee), Meersschaert, F. A. (Member of programme committee), Seneca, S. (Member of programme committee), Gheldof, A. (Member of programme committee), Vlaeminck, J. (Member of programme committee) & De Smedt, D. (Member of programme committee)
17 Mar 2024Activity: Participating in or organising an event › Participating in or organizing a festival/exhibition
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Molecular insights into Pompe Disease: a study of PPARgamma, COL13A1 and cellular glycogen metabolism
Uyttebroeck, S. (Presenter), Vo Ngoc, D. T. L. (Contributor), Osei, R. (Contributor), Dequeker, B. (Contributor), Seneca, S. (Contributor), Hes, F. J. (Contributor) & Gheldof, A. (Contributor)
1 Jun 2024 → 4 Jun 2024Activity: Talk or presentation › Talk or presentation at a conference
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Moderatoren Frederik Hes, diensthoofd genetica Philippe Giron, labo-coördinator genetica 1. Algemene genetica Kathelijn Keymolen, afdelingshoofd genetica Sophie Uyttebroeck, ASO genetica 2. Cardiogenetica, Carlo de Asmundis, afdelingshoofd ritmologie 3. Ophthalmogenetica; Sorcha Ní Dhubghgail, diensthoofd oogheelkunde 4. Predictieve testen neurologie, Julie Nekkebroeck, klinisch psycholoog genetica 5. Zeldzame ziekten, Vera Vertessen, directeur patiëntenzorg 6. Les beaux arts van genetica, Inge Liebaers, emeritus-hoogleraar genetica
Hes, F. J. (Speaker), Giron, P. (Speaker), Keymolen, K. (Invited speaker), Uyttebroeck, S. (Invited speaker), De Asmundis, C. (Invited speaker), Ní Dhubhghaill, S. (Invited speaker), Nekkebroeck, J. (Invited speaker), Vertessen, V. (Invited speaker) & Liebaers, I. (Invited speaker)
24 Oct 2024Activity: Talk or presentation › Talk or presentation at a conference
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European Society of Human Genetics
Slegers, I. (Participant), Sammels, E. (Participant), Polsler, L. (Participant), Van Berkel, K. (Participant), Van de Voorde, S. R. (Participant), Hes, F. J. (Participant), Uyttebroeck, S. (Participant), Vantroys, E. (Participant) & Keymolen, K. (Participant)
1 Jun 2024 → 4 Jun 2024Activity: Participating in or organising an event › Participation in conference