Martina Wilke

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

Drost, M., Dekker, J., Ferraro, F., Kasteleijn, E., Verschuren, M., Kroon, E., Douben, H. C. W., Vogt, I., van Unen, L., Hoogeveen-Westerveld, M., Elfferich, P., Schot, R., Calandrini, C., Korpershoek, E., Sleutels, F., Brüggenwirth, H. B. R., Hollink, I. R., Meerstein-Kessel, L., Hoefsloot, L. H. & van Slegtenhorst, M. & 32 others, Wilke, M., Weerts, M. J. A., van Minkelen, R., Wagner, A., Bouman, A., van Paassen, B. W., Verheijen-Mancini, G. M., van de Laar, I. M. B. H., Kievit, A. J. A., Verhagen, J. M. A., Stuurman, K. E., Donker Kaat, L., van Dooren, M. F., Wessels, M. W., Oldenburg, R. A., Zeidler, S., van Dijk, T., Barakat, T. S., Verhoeven, V. J. M., van Bever, Y., van Ierland, Y., Bannink, N., van Koningsbruggen, S., Lakeman, P., Leeuwen, L., Verbeek, N. E., Sinnema, M., Heijligers, M., van Asperen, C. J., Saris, J. J., Nellist, M. & van Ham, T. J., 15 Jan 2026, In: Human Genetics and Genomics Advances. 7, 1, 100521.

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Expansion of the phenotype in ZFX neurodevelopmental disorder in a family

van der Tol, L., de Jong, M., Alders, M., Wilke, M., van der Schoot, V., van Slegtenhorst, M. A. & Goverde, A., Dec 2025, In: European Journal of Medical Genetics. 78, 105053.

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Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

Dafsari, H. S., Deneubourg, C., Singh, K., Maroofian, R., Suprenant, Z., Kho, A. L., Ingham, N. J., Steel, K. P., Sheshadri, P., Baur, F., Hentrich, L., Gerisch, B., Zamani, M., Alves, C., Siddiqui, A., Dafsari, H. S., Salari, M., Lang, A. E., Harris, M. & Abdelaleem, A. & 121 others, Sadeghian, S., Azizimalamiri, R., Galehdari, H., Shariati, G., Sedaghat, A., Zeighami, J., Calame, D., Marafi, D., Duan, R., Boehnke, A., Clark, G. D., Rosenfeld, J. A., Mohila, C. A., Steel, D., Chopra, S., Sharma, S., Kohlschmidt, N., Patzer, S., Saffari, A., Ebrahimi-Fakhari, D., Çavdartepe, B. E., Chang, I. J., Beckman, E., Peters, R., Fennell, A. P., Lo, B., Averdunk, L., Distelmaier, F., Baethmann, M., Elmslie, F., Joost, K., Nampoothiri, S., Yesodharan, D., Mandel, H., Kimball, A., Kline, A. D., Mignot, C., Keren, B., Laugel, V., Õunap, K., Devadathan, K., van Berkestijn, F. M. C., Silwal, A., Koene, S., Verma, S., Karim, M. Y., Boubidi, C., Aziz, M., ElGhazali, G., Mattas, L., Miryounesi, M., Hashemi-Gorji, F., Alavi, S., Nouri, N., Noruzinia, M., Kavousi, S., Kamath, A., Jayawant, S., Saneto, R., Haridy, N. A., Kart, P. O., Cansu, A., Joubert, M., Beneteau, C., Stuurman, K. E., Wilke, M., Barakat, T. S., Tajsharghi, H., Scardamaglia, A., Vallian, S., Hız, S., Shoeibi, A., Boostani, R., Hashemi, N., Babaei, M., Alsaleh, N. S., Porter, J., Attié-Bitach, T., Marzin, P., Wicher, D., Gold, J. I., Schuler, E., Kashgari, A., Alanazi, R. F., Eyaid, W., Engelen, M., Langeveld, M., Stüve, B., Li, Y., Yigit, G., Wollnik, B., Monje, M. H. G., Krainc, D., Mencacci, N. E., Bakhtiari, S., Kruer, M., Argilli, E., Sherr, E., Jamshidi, Y., Karimiani, E. G., Cheung, Y. W. S., Karin, I., Zifarelli, G., Bauer, P., Chung, W. K., Lupski, J. R., Kurian, M. A., Dötsch, J., von Kleist-Retzow, J. C., Klopstock, T., Wagner, M., Yip, C., Roos, A., Carsetti, R., Dionisi-Vici, C., Gautel, M., Duchen, M. R., Antebi, A., Houlden, H., Fanto, M. & Jungbluth, H., 1 Nov 2025, In: Annals of Neurology. 98, 5, p. 932-950 19 p.

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Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

Smits, D. J., Ferraro, F., Drost, M., van der Linde, H. C., de Graaf, B. M., van Bever, Y., Brooks, A. S., Bardina, L., Brüggenwirth, H. T., Debuy, C., Donker Kaat, L., van Dijk, B. T., van Engelen, N., Geeven, G., van de Graaf, R., van Haaften-Visser, D. Y., van Hasselt, P. M., Heijsman, D., Hendriks, Y. M. C. & Hitti-Malin, R. J. & 25 others, Hoefsloot, L. H., Huijbregts, G., IJspeert, H., Lamballais, S., Mijalkovic, J., Mol, M. O., Nawawi, D., Nederpelt, N., Nibbeling, E. A. R., Te Rijdt, W., Schot, R., van Slegtenhorst, M., Sleutels, F., Ulenkate, E. L. M., Van Veghel-Plandsoen, M., Verhagen, J. M. A., Vos, D., Wauters, E., Wilke, M., Sylva, M., Barakat, T. S., van Ham, T. J., Kleefstra, T., Rots, D. & Verhoeven, V. J. M., 20 Oct 2025, In: European journal of human genetics : EJHG. 34, 1, p. 108-118 11 p.

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A clinical and genotype-phenotype analysis of MACF1 variants

Dekker, J., Schot, R., Aldinger, K. A., Everman, D. B., Washington, C., Jones, J. R., Sullivan, J. A., Spillmann, R. C., Shashi, V., Vitobello, A., Denommé-Pichon, A. S., Mosca-Boidron, A. L., Perrin, L., Auvin, S., Zaki, M. S., Gleeson, J. G., Meave, N., Wallace, C., Nambot, S. & Delanne, J. & 70 others, Ruggiero, S. M., Helbig, I., Fitzgerald, M. P., Leventer, R. J., Grange, D. K., Argilli, E., Sherr, E. H., Prakash, S., Neilson, D. E., Nicita, F., Sferra, A., Bertini, E. S., Aiello, C., Brockmann, K., Kuranov, A. B., Kaulfuss, S., Basit, S., Alluqmani, M., Almatrafi, A., Friedman, J. M., Guimond, C., Mohammed, F., Sharma, P., Goel, D., Wirth, T., Anheim, M., Bahena, P., Koparir, A., Kolokotronis, K., Vona, B., Haaf, T., Kunstmann, E., Maroofian, R., Sczakiel, H. L., Boschann, F., Misra-Isrie, M., Louie, R. J., Stolerman, E. S., Sanchez-Lara, P. A., Mergler, S., Oegema, R., Zarate, Y. A., Kariminejad, A., Tajsharghi, H., Zeidler, S., Kievit, A. J. A., Bouman, A., Cappuccio, G., Brunetti-Pierri, N., Stuurman, K. E., Swols, D. M., Tekin, M., Upadia, J., Martin, D. M., Craven, D., Hiatt, S. M., van de Pol, L. A., D'Arco, F., Margot, H., Wilke, M., Yousefi, S., Barakat, T. S., van Veghel-Plandsoen, M. M., Aronica, E., Anink, J., Rogers, S. L., Slep, K. C., Doherty, D., Dobyns, W. B. & Mancini, G. M. S., 2 Oct 2025, In: American Journal of Human Genetics. 112, 10, p. 2363-2380 18 p.

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dr. Martina Wilke

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Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

Expansion of the phenotype in ZFX neurodevelopmental disorder in a family

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

A clinical and genotype-phenotype analysis of MACF1 variants