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  • 2024

    Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations

    Raidt, J., Riepenhausen, S., Pennekamp, P., Olbrich, H., Amirav, I., Athanazio, R. A., Aviram, M., Balinotti, J. E., Bar-On, O., Bode, S. F. N., Boon, M., Borrelli, M., Carr, S. B., Crowley, S., Dehlink, E., Diepenhorst, S., Durdik, P., Dworniczak, B., Emiralioğlu, N. & Erdem, E. & 46 others, Fonnesu, R., Gracci, S., Große-Onnebrink, J., Gwozdziewicz, K., Haarman, E. G., Hansen, C. R., Hogg, C., Holgersen, M. G., Kerem, E., Körner, R. W., Kötz, K., Kouis, P., Loebinger, M. R., Lorent, N., Lucas, J. S., Maj, D., Mall, M. A., Marthin, J. K., Martinu, V., Mazurek, H., Mitchison, H. M., Nöthe-Menchen, T., Özçelik, U., Pifferi, M., Pogorzelski, A., Ringshausen, F. C., Roehmel, J. F., Rovira-Amigo, S., Rumman, N., Schlegtendal, A., Shoemark, A., Kennelly, S. S., Staar, B. O., Sutharsan, S., Thomas, S., Ullmann, N., Varghese, J., von Hardenberg, S., Walker, W. T., Wetzke, M., Witt, M., Yiallouros, P., Zschocke, A., Ziętkiewicz, E., Nielsen, K. G. & Omran, H. (Lead / Corresponding author), Aug 2024, In: European Respiratory Journal. 64, 2, 15 p., 2301769.

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  • Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

    Fleming, A., Galey, M., Briggs, L., Edwards, M., Hogg, C., John, S., Wilkinson, S., Quinn, E., Rai, R., Burgoyne, T., Rogers, A., Patel, M. P., Griffin, P., Muller, S., Carr, S. B., Loebinger, M. R., Lucas, J. S., Shah, A., Jose, R. & Mitchison, H. M. & 3 others, Shoemark, A., Miller, D. E. & Morris-Rosendahl, D. J., Sept 2024, In: European Journal of Human Genetics. 32, 9, p. 1074-1085 12 p.

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