Onderzoeksoutput

Onderzoeksoutput per jaar 1988 1998 2003 2004 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2017 2018 2024

• 5539 Citaties
• 43 h-index
• 154 Article
• 75 Meeting abstract (Book)
• 62 Meeting abstract (Journal)
• 13 Conference paper
• 20 Meer
  • 12 Poster
  • 5 Editorial
  • 2 Unpublished abstract
  • 1 Other contribution

Onderzoeksoutput per jaar

Onderzoeksoutput per jaar

Zoekresultaten

• 2024

  COL13A1 connects glycogen accumulation with the phenotype in Pompe disease

  Uyttebroeck, S., Vo Ngoc, D. T. L., Osei, R., Dequeker, B., Seneca, S., Hes, F. J. & Gheldof, A., 12 apr 2024, (Unpublished).

  Onderzoeksoutput: Poster
• 2022

  Connection between glucose metabolism and gene expression of critical neuromuscular components in Pompe's disease: new hints explaining the hypotonic phenotype?

  Vo Ngoc, D. T. L., Osei, R., Dohr, K., Sermon, K., Seneca, S. & Gheldof, A., feb 2022, (Unpublished).

  Onderzoeksoutput: Poster

  • Glycogen Storage Disease Type II 100%
  • PPAR gamma 57%
  • Glucose 43%
  • Phenotype 41%
  • Gene Expression 41%
• 2021

  Computation of a database of interspersed repeats in coding regions of the human genome.

  Vo Ngoc, D. T. L., Osei, R., Dohr, K., Olsen, C., Stouffs, K., Sermon, K., Seneca, S. & Gheldof, A., 28 aug 2021, (Unpublished).

  Onderzoeksoutput: Poster

  • Genomics 100%
  • Genes 30%
  • Pipelines 24%
  • Scanning 12%
  • Data storage equipment 9%
• 2020

  The involvement of MAN2C1 in the development of cortical malformations

  Kerkhove, L., Yildirim, H., Seneca, S., Gheldof, A., Dumitriu, D., Sermon, K., Jansen, A., Nassogne, M-C. & Stouffs, K., 6 jun 2020.

  Onderzoeksoutput: Poster

• The involvement of MAN2C1 in the development of cortical malformations

  Kerkhove, L., Yildirim, H., Seneca, S., Gheldof, A., Dumitriu, D., Sermon, K., Jansen, A., Nassogne, M-C. & Stouffs, K., 6 mrt 2020.

  Onderzoeksoutput: Poster

• Unraveling the molecular etiology of Pompe disease using RNA sequencing

  Vo Ngoc, D. T. L., Franck, S., Seneca, S., Stouffs, K., De Dobbeleer, G., Jansen, A., Regal, L., Jonckheere, A., Sermon, K. & Gheldof, A., 6 mrt 2020, (Unpublished).

  Onderzoeksoutput: Poster

  • Glycogen Storage Disease Type II 100%
  • RNA Sequence Analysis 77%
  • MicroRNAs 48%
  • Gene Ontology 39%
  • Genes 27%
• 2018

  A multi exons deletion in the TANGO2 gene region is a recurrent cause of its functional defect

  Seneca, S., D'hooghe, M., Stouffs, K., Gheldof, A., De Rademaeker, M., Bonduelle, M-L. & De Meirleir, L., 2018.

  Onderzoeksoutput: Poster
• 2017

  Mitochondrial DNA variants in pluripotent stem cells: Origin and effect of long-term culture

  Zambelli, F., Mertens, J. H., Barbé, L., Dziedzicka, D., Sterckx, J., Markouli, C., Tropel, P., Jung, L., Keller, A. S., Geens, M., Seneca, S., Viville, S., Van De Velde, H., Sermon, K. & Spits, C., 2017.

  Onderzoeksoutput: Poster

• Mitochondrial DNA variants in pluripotent stem cells: Origin and Effect of Long-term Culture

  Zambelli, F., Mertens, J., Barbé, L., Dziedzicka, D., Sterckx, J., Markouli, C., Tropel, P., Jung, L., Keller, A. S., Geens, M., Seneca, S., Viville, S., Van De Velde, H., Sermon, K. & Spits, C., 23 okt 2017.

  Onderzoeksoutput: Poster

• P06.27C: Nucleotide analysis of a gene panel involved in Lysosomal Storage Disease (LSD) in patients with a strong clinical suspicion

  Gheldof, A., Seneca, S., Stouffs, K., Martens, G., De Meirleir, L. & Bonduelle, M-L. (redactie), 2017.

  Onderzoeksoutput: Poster

• P06.50B A multi exons deletion in the TANGO2 gene region is a current cause of its functional defect

  Seneca, S., D'hooghe, M., Stouffs, K., De Rademaeker, M., Bonduelle, M-L. & De Meirleir, L., 2017.

  Onderzoeksoutput: Poster
• 2013

  Double Jeopardy: Identification of a Fragile X full mutation associated with Turner Syndrome in a prenatal case

  Seneca, S., Bael, A. M., Van Berkel, K., Staessen, C., Stouffs, K., Lissens, W. & Bonduelle, M., 15 mrt 2013.

  Onderzoeksoutput: Poster