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Daan Panneman, PhD

 https://orcid.org/0000-0002-4384-505X
    20242025

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    • Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies

      Moekotte, L., de Boer, J. H., Hiddingh, S., de Ligt, A., Nguyen, X. T. A., Hoyng, C. B., Inglehearn, C. F., McKibbin, M., Lamey, T. M., Thompson, J. A., Chen, F. K., McLaren, T. L., AlTalbishi, A., Panneman, D. M., Boonen, E. G. M., Banfi, S., Bocquet, B., Meunier, I., De Baere, E. & Koenekoop, R. & 14 others, Ołdak, M., Rivolta, C., Roberts, L., Ramesar, R., Strupaitė-Šileikiene, R., Kohl, S., Farrar, G. J., van Vugt, M., van Setten, J., Roosing, S., van den Born, L. I., Boon, C. J. F., van Genderen, M. M. & Kuiper, J. J. W., Feb 2025, In: Investigative ophthalmology & visual science. 66, 2, 55.

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

      Open Access
      File
      6 Downloads (Pure)

    • De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

      Quinodoz, M., Rodenburg, K., Cvackova, Z., Kaminska, K., de Bruijn, S. E., Iglesias-Romero, A. B., Boonen, E. G. M., Ullah, M., Zomer, N., Folcher, M., Bijon, J., Holtes, L. K., Tsang, S. H., Corradi, Z., Freund, K. B., Shliaga, S., Panneman, D. M., Hitti-Malin, R. J., Ali, M. & AlTalbishi, A. & 150 others, Andréasson, S., Ansari, G., Arno, G., Astuti, G. D. N., Ayuso, C., Ayyagari, R., Banfi, S., Banin, E., Barboni, M. T. S., Bauwens, M., Ben-Yosef, T., Birch, D. G., Biswas, P., Blanco-Kelly, F., Bocquet, B., Boon, C. J. F., Branham, K., Britten-Jones, A. C., Bujakowska, K. M., Cadena, E. L., Calzetti, G., Cancellieri, F., Cattaneo, L., Issa, P. C., Chadderton, N., Coutinho-Santos, L., Daiger, S. P., De Baere, E., de la Cerda, B., De Roach, J. N., De Zaeytijd, J., Derks, R., Dhaenens, C.-M., Dudakova, L., Duncan, J. L., Farrar, G. J., Feltgen, N., Fernández-Caballero, L., Sallum, J. M. F., Gana, S., Garanto, A., Gardner, J. C., Gilissen, C., Goto, K., Gonzàlez-Duarte, R., Griffiths-Jones, S., Haack, T. B., Haer-Wigman, L., Hardcastle, A. J., Hayashi, T., Héon, E., Hoischen, A., Holtan, J. P., Hoyng, C. B., Ibanez, M. B. B., Inglehearn, C. F., Iwata, T., Jones, K., Kalatzis, V., Kamakari, S., Karali, M., Kellner, U., Knézy, K., Klaver, C. C. W., Koenekoop, R. K., Kohl, S., Kominami, T., Kühlewein, L., Lamey, T. M., Leroy, B. P., Martín-Gutiérrez, M. P., Martins, N., Mauring, L., Leibu, R., Lin, S., Liskova, P., Lopez, I., López-Rodríguez, V. R. D. J., Mahroo, O. A., Manes, G., McKibbin, M., McLaren, T. L., Meunier, I., Michaelides, M., Millán, J. M., Mizobuchi, K., Mukherjee, R., Nagy, Z. Z., Neveling, K., Ołdak, M., Oorsprong, M., Pan, Y., Papachristou, A., Percesepe, A., Pfau, M., Pierce, E. A., Place, E., Ramesar, R., Rasquin, F. A., Rice, G. I., Roberts, L., Rodríguez-Hidalgo, M., Ruiz-Eddera, J., Sabir, A. H., Sajiki, A. F., Sánchez-Barbero, A. I., Sarma, A. S., Sangermano, R., Santos, C. M., Scarpato, M., Scholl, H. P. N., Sharon, D., Signorini, S. G., Simonelli, F., Sousa, A. B., Stefaniotou, M., Stingl, K., Suga, A., Sullivan, L. S., Szabó, V., Szaflik, J. P., Taurina, G., Toomes, C., Tran, V. H., Tsilimbaris, M. K., Tsoka, P., Vaclavik, V., Vajter, M., Valeina, S., Valente, E. M., Valentine, C., Valero, R., van Aerschot, J., van den Born, L. I., Webster, A. R., Whelan, L., Wissinger, B., Yioti, G. G., Yoshitake, K., Zenteno, J. C., Zeuli, R., Zuleger, T., Landau, C., Jacob, A. I., Cremers, F. P. M., Lee, W., Ellingford, J. M., Stanek, D., Rivolta, C. & Roosing, S., 6 Jan 2025, medRxiv, 36 p.

      Research output: Working paper › Preprint › Academic

    • Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

      Panneman, D. M., Hitti-Malin, R. J., McKibbin, M., de Bruijn, S. E., Boonen, E. G. M., Vincent, A. L., Vargas, G., Corominas, J., Astuti, G., Gilissen, C., De Baere, E., Inglehearn, C. F., Roosing, S., Koenekoop, R. K. & Cremers, F. P. M., Jun 2025, In: Investigative Ophthalmology and Visual Science. 66, 6, 10 p., 19.

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

      Open Access
      File
      12 Downloads (Pure)

    • Non-coding single nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

      Hayman, T., Ovadia, S., Krishnan, J., Bouckaert, M., Panneman, D. M., English, M., Valensi, J., Cremers, F. P. M., Ben Yosef, T., van den Born, L. I., de Bruijn, S. E., Roosing, S., Banin, E., Khateb, S., Ashery-Padan, R., Coppieters, F., Swaroop, A. & Sharon, D., Jul 2025, In: Genetics in medicine : official journal of the American College of Medical Genetics. 27, 7, 12 p., 101427.

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

    • Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies

      Capasso, D., Zeuli, R., Arno, G., Kwint, M., Timmermans, R., Ruiz-Ceja, K. A., Karali, M., Simonelli, F., Signorini, S., Valente, E. M., Cremers, F. P. M., Banfi, S., Roosing, S., Panneman, D. M. & de Bruijn, S. E., 10 Jul 2025, In: HGG advances. 6, 3, 100442.

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

      Open Access
    View all 7 research outputs