1. 2019
  2. Clinical implementation of gene panel testing for lysosomal storage diseases

    Gheldof, A., Seneca, S., Stouffs, K., Lissens, W., Jansen, A., Laeremans, H., Verloo, P., Schoonjans, A. S., Meuwissen, M., Barca, D., Martens, G. & De Meirleir, L., 1 Feb 2019, In : Molecular Genetics and Genomic Medicine. 7, 2, 11 p., e00527.

    Research output: Contribution to journalArticle

  3. 2017
  4. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

    Vandervore, L., Stouffs, K., Tanyalçin, I., Vanderhasselt, T., Roelens, F., Holder-Espinasse, M., Jørgensen, A., Pepin, M. G., Petit, F., Khau Van Kien, P., Bahi-Buisson, N., Lissens, W., Gheldof, A., Byers, P. H. & Jansen, A. C., Jun 2017, In : Journal of Medical Genetics. 54, 6, p. 432-440 9 p.

    Research output: Contribution to journalArticle

  5. Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

    Grodecká, L., Kováčová, T., Kramárek, M., Seneca, S., Stouffs, K., De Laet, C., Majer, F., Kršjaková, T., Hujová, P., Hrnčířová, K., Souček, P., Lissens, W., Buratti, E. & Freiberger, T., Mar 2017, In : Journal of Molecular Medicine. 95, 3, p. 299-309 11 p.

    Research output: Contribution to journalArticle

  6. 2016
  7. Convert your favorite protein modeling program into a mutation predictor: "MODICT"

    Tanyalcin, I., Stouffs, K., Daneels, D., Al Assaf, C., Lissens, W., Jansen, A. & Gheldof, A., 2016, In : BMC Bioinformatics. 17, 1, 19 p., 425.

    Research output: Contribution to journalArticle

  8. I-PV: a CIRCOS module for interactive protein sequence visualization

    Tanyalcin, I., Al Assaf, C., Gheldof, A., Stouffs, K., Lissens, W. & Jansen, A. C., 2016, In : Bioinformatics. 32, 3, p. 447-449 3 p.

    Research output: Contribution to journalArticle

  9. Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

    Stouffs, K., Gheldof, A., Tournaye, H., Vandermaelen, D., Bonduelle, M., Lissens, W. & Seneca, S., 2016, In : BioMed Research International. 2016, 7 p., 6191307.

    Research output: Contribution to journalArticle

  10. 2015
  11. Antithrombin heparin binding site deficiency: A challenging diagnosis of a not so benign thrombophilia

    Orlando, C., Heylen, O., Lissens, W. & Jochmans, K., Jun 2015, In : Thrombosis Research. 135, 6, p. 1179-1185 7 p.

    Research output: Contribution to journalArticle

  12. Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

    Seneca, S., Vancampenhout, K., Van Coster, R., Smet, J., Lissens, W., Vanlander, A., De Paepe, B., Jonckheere, A., Stouffs, K. & De Meirleir, L., 2015, In : Eur J Hum Genet. 23, p. 41-48

    Research output: Contribution to journalArticle

  13. 2014
  14. Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

    Seneca, S., Vancampenhout, K., Vancoster, R., Lissens, W., Vanlander, A., Smet, J., De Paepe, B., Jonckheere, A., Stouffs, K., Daneels, D., Bonduelle, M-L. & De Meirleir, L., 15 Jun 2014, Euromit. p. 396-396 1 p.

    Research output: Chapter in Book/Report/Conference proceedingMeeting abstract (Book)

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