Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
- 8 resultaten
Zoekresultaten
-
2021
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance
Laan, M., Kasak, L., Timinskas, K., Grigorova, M., Venclovas, Č., Renaux, A., Lenaerts, T. & Punab, M., apr 2021, In: Clinical Endocrinology. 94, 4, blz. 656-666 11 blz.Onderzoeksoutput: Article › peer review
13 Citaten (Scopus)87 Downloads (Pure) -
2019
ORVAL : a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations
Renaux, A., Papadimitriou, S., Versbraegen, N., Nachtegael, C., Boutry, S., Nowé, A., Smits, G. & Lenaerts, T., 31 mei 2019, In: Nucleic Acids Research. 47, W1, blz. W93–W98 6 blz., gkz437.Onderzoeksoutput: Article › peer review
Open AccessBestand46 Citaten (Scopus)71 Downloads (Pure) -
Predicting disease-causing variant combinations
Papadimitriou, S., Gazzo, A., Versbraegen, N., Nachtegael, C., Aerts, J., Moreau, Y., Van Dooren, S., Nowé, A., Smits, G. & Lenaerts, T., 11 jun 2019, In: Proceedings of the National Academy of Sciences of the United States of America. 116, 24, blz. 11878-11887 10 blz.Onderzoeksoutput: Article › peer review
Open AccessBestand68 Citaten (Scopus)77 Downloads (Pure) -
Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases
Versbraegen, N., Fouche, A., Nachtegael, C., Papadimitriou, S., Gazzo, A., Smits, G. & Lenaerts, T., aug 2019, In: Artificial Intelligence in Medicine. 99, 101690.Onderzoeksoutput: Article › peer review
Bestand15 Citaten (Scopus)135 Downloads (Pure) -
2017
DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins
Raimondi, D., Tanyalcin, I., Ferte, J., Gazzo, A., Orlando, G., Lenaerts, T., Rooman, M. & Vranken, W., 3 jul 2017, In: Nucleic Acids Research. 45, W1, blz. W201-W206Onderzoeksoutput: Article › peer review
Open AccessBestand102 Citaten (Scopus)85 Downloads (Pure) -
Understanding mutational effects in digenic diseases
Gazzo, A., Raimondi, D., Daneels, D., Moreau, Y., Smits, G., Van Dooren, S. & Lenaerts, T., 6 sep 2017, In: Nucleic Acids Research. 45, 15, 11 blz., e140.Onderzoeksoutput: Article › peer review
Open AccessBestand45 Citaten (Scopus)72 Downloads (Pure) -
2016
DIDA: A curated and annotated digenic diseases database
Gazzo, A. M., Daneels, D., Cilia, E., Bonduelle, M., Abramowicz, M., Van Dooren, S., Smits, G. & Lenaerts, T., 4 jan 2016, In: Nucleic Acids Research. 44, D1, blz. D900-D907 8 blz.Onderzoeksoutput: Article › peer review
Open Access78 Citaten (Scopus) -
Multilevel biological characterization of exomic variants at the protein level significantly improves the identification of their deleterious effects
Raimondi, D., Gazzo, A. M., Rooman, M., Lenaerts, T. & Vranken, W. F., 15 jun 2016, In: Bioinformatics. 32, 12, blz. 1797-1804Onderzoeksoutput: Article › peer review
27 Citaten (Scopus)