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prof. dr. Arthur Bergen

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  • Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

    Reurink, J., Weisschuh, N., Garanto, A., Dockery, A., van den Born, L. I., Fajardy, I., Haer-Wigman, L., Kohl, S., Wissinger, B., Farrar, G. J., Ben-Yosef, T., Pfiffner, F. K., Berger, W., Weener, M. E., Dudakova, L., Liskova, P., Sharon, D., Salameh, M., Offenheim, A., Heon, E., & 30 othersGirotto, G., Gasparini, P., Morgan, A., Bergen, A. A., ten Brink, J. B., Klaver, C. C. W., Tranebjærg, L., Rendtorff, N. D., Vermeer, S., Smits, J. J., Pennings, R. J. E., Aben, M., Oostrik, J., Astuti, G. D. N., Corominas Galbany, J., Kroes, H. Y., Phan, M., van Zelst-Stams, W. A. G., Thiadens, A. A. H. J., Verheij, J. B. G. M., van Schooneveld, M. J., de Bruijn, S. E., Li, C. H. Z., Hoyng, C. B., Gilissen, C., Vissers, L. E. L. M., Cremers, F. P. M., Kremer, H., van Wijk, E. & Roosing, S., 13 Apr 2023, In: Human Genetics and Genomics Advances. 4, 2, 100181.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    4 Citations (Scopus)
    26 Downloads (Pure)

  • Gene expression and functional annotation of the human and mouse choroid plexus epithelium

    Janssen, S. F., Van Der Spek, S. J. F., Ten Brink, J. B., Essing, A. H. W., Gorgels, T. G. M. F., Van Der Spek, P. J., Jansonius, N. M. & Bergen, A. A. B., 31 Dec 2013, In: PLoS ONE. 8, 12, e83345.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    34 Citations (Scopus)
    1 Downloads (Pure)

  • Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

    Verhoeven, V., Hysi, PG., Wojciechowski, R., Fan, Q., Guggenheim, JA., Hohn, R., Macgregor, S., Hewitt, AW., Nag, A., Cheng, CY., Yonova-Doing, E., Zhou, X., Ikram, K., Buitendijk, G., McMahon, G., Kemp, JP., St Pourcain, B., Simpson, CL., Makela, KM., Lehtimaki, T., & 88 othersKahonen, M., Paterson, AD., Hosseini, SM., Wong, HS., Xu, L., Jonas, JB., Parssinen, O., Wedenoja, J., Yip, SP., Ho, DWH., Pang, CP., Chen, LJ., Burdon, KP., Craig, JE., Klein, BEK., Klein, R., Haller, T., Metspalu, A., Khor, CC., Tai, ES., Aung, T., Vithana, E., Tay, WT., Barathi, VA., Chen, P-Y., Li, RY., Liao, JM., Zheng, YF., Ong, RT., Doring, A., Evans, DM., Timpson, NJ., Verkerk, AJMH., Meitinger, T., Raitakari, O., Hawthorne, F., Spector, TD., Karssen, L., Pirastu, M., Murgia, F., Ang, W., Mishra, A., Montgomery, GW., Pennell, CE., Cumberland, PM., Cotlarciuc, I., Mitchell, P., Wang, JJ., Schache, M., Janmahasathian, S., Igo, RP., Lass, JH., Chew, E., Iyengar, SK., Gorgels, TGMF., Rudan, I., Hayward, C., Wright, AF., Polasek, O., Vatavuk, Z., Wilson, JF., Fleck, B., Zeller, T., Mirshahi, A., Müller, C., Uitterlinden, A., Rivadeneira, F., Vingerling, H., Hofman, B., Oostra, B., Amin, N., Bergen, A., Teo, YY., Rahi, JS., Vitart, V., Williams, C., Baird, PN., Wong, TY., Oexle, K., Pfeiffer, N., Mackey, DA., Young, TL., Duijn, C., Saw, SM., Bailey-Wilson, JE., Stambolian, D., Klaver, C. & Hammond, CJ., 2013, In: Nature Genetics. 45, 3, p. 314-318 5 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    361 Citations (Scopus)

  • Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (vol 45, pg 314, 2013)

    Verhoeven, V., Hysi, PG., Wojciechowski, R., Fan, Q., Guggenheim, JA., Hohn, R., Macgregor, S., Hewitt, AW., Nag, A., Cheng, CY., Yonova-Doing, E., Zhou, X., Ikram, K., Buitendijk, G., McMahon, G., Kemp, JP., St Pourcain, B., Simpson, CL., Makela, KM., Lehtimaki, T., & 88 othersKahonen, M., Paterson, AD., Hosseini, SM., Wong, HS., Xu, L., Jonas, JB., Parssinen, O., Wedenoja, J., Yip, SP., Ho, DWH., Pang, CP., Chen, LJ., Burdon, KP., Craig, JE., Klein, BEK., Klein, R., Haller, T., Metspalu, A., Khor, CC., Tai, ES., Aung, T., Vithana, E., Tay, WT., Barathi, VA., Chen, P., Li, RY., Liao, JM., Zheng, YF., Ong, RT., Doring, A., Evans, DM., Timpson, NJ., Verkerk, AJMH., Meitinger, T., Raitakari, O., Hawthorne, F., Spector, TD., Karssen, L., Pirastu, M., Murgia, F., Ang, W., Mishra, A., Montgomery, GW., Pennell, CE., Cumberland, PM., Cotlarciuc, I., Mitchell, P., Wang, JJ., Schache, M., Janmahasathian, S., Igo, RP., Lass, JH., Chew, E., KIyengar, S., Gorgels, TGMF., Rudan, I., Hayward, C., Wright, AF., Polasek, O., Vatavuk, Z., Wilson, JF., Fleck, B., Zeller, T., Mirshahi, A., Müller, C., Uitterlinden, A., Rivadeneira, F., Vingerling, H., Hofman, B., Oostra, B., Amin, N., Bergen, A., Teo, YY., Rahi, JS., Vitart, V., Williams, C., Baird, PN., Wong, TY., Oexle, K., Pfeiffer, N., Mackey, DA., Young, TL., Duijn, C., Saw, SM., Bailey-Wilson, JE., Stambolian, D., Klaver, C. & Hammond, CJ., 2013, In: Nature Genetics. 45, 6, p. 712-712 1 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    4 Citations (Scopus)

  • The vast complexity of primary open angle glaucoma: Disease genes, risks, molecular mechanisms and pathobiology

    Janssen, SF., Gorgels, TGMF., Ramdas, W., Klaver, C., Duijn, C., Jansonius, NM. & Bergen, A., 2013, In: Progress in Retinal and Eye Research. 37, p. 31-67 37 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    138 Citations (Scopus)
View all 23 research outputs