Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies

Nguyen, X-T-A., Moekotte, L., Plomp, A. S., Bergen, A. A., van Genderen, M. M. & Boon, C. J. F., 1 Apr 2023, In: International Journal of Molecular Sciences. 24, 8, 7481.

Research output: Contribution to journal › Review article › Academic › peer-review

Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties

el Ghaleb, Y., Fernandez-Quintero, M. L., Campiglio, M., Liedl, K. R., Plomp, A. S., Bakker, D. P., Motazacker, M. M., Kortüm, F., Höing, A-S., Kutsche, K. & Flucher, B. E., 10 Feb 2023, In: Biophysical Journal. 122, 3S1, p. 107a

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

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Solaki, M., Baumann, B., Reuter, P., Andreasson, S., Audo, I., Ayuso, C., Balousha, G., Benedicenti, F., Birch, D., Bitoun, P., Blain, D., Bocquet, B., Branham, K., Català-Mora, J., de Baere, E., Dollfus, H., Falana, M., Giorda, R., Golovleva, I., Gottlob, I., & 31 othersHeckenlively, J. R., Jacobson, S. G., Jones, K., Jägle, H., Janecke, A. R., Kellner, U., Liskova, P., Lorenz, B., Martorell-Sampol, L., Messias, A., Meunier, I., Belga Ottoni Porto, F., Papageorgiou, E., Plomp, A. S., de Ravel, T. J. L., Reiff, C. M., Renner, A. B., Rosenberg, T., Rudolph, G. N., Salati, R., Sener, E. C., Sieving, P. A., Stanzial, F., Traboulsi, E. I., Tsang, S. H., Varsanyi, B., Weleber, R. G., Zobor, D., Stingl, K., Wissinger, B. & Kohl, S., Jul 2022, In: Human Mutation. 43, 7, p. 832-858 27 p.

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

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Ferilli, M., Fletcher, R. S., Cherick, F., Foroutan, A., & 72 othersFriez, M. J., Gervasini, C., Haghshenas, S., Hilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Plomp, A. S., Poulton, C., Reilly, J., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., John, M. S., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T. B., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Campion, D., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Heron, D., Husson, T., Kernohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vincent, M., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., Nov 2022, In: Human Mutation. 43, 11, p. 1609-1628 20 p.

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

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

de Bruijn, S. E., Rodenburg, K., Corominas, J., Ben-Yosef, T., Reurink, J., Kremer, H., Whelan, L., Plomp, A. S., Berger, W., Farrar, G. J., Ferenc Kovács, Á., Fajardy, I., Hitti-Malin, R. J., Weisschuh, N., Weener, M. E., Sharon, D., Pennings, R. J. E., Haer-Wigman, L., Hoyng, C. B., Nelen, M. R., & 7 othersVissers, L. E. L. M., van den Born, L. I., Gilissen, C., Cremers, F. P. M., Hoischen, A., Neveling, K. & Roosing, S., 2022, (E-pub ahead of print) In: Genetics in Medicine. 100345.

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