Kyra Stuurman

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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Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis

Iwai, M., Stuurman, K. E., Meagher, K., Leveille, L. A., Saisu, T., Mori, S., Kumaki, T., Enomoto, Y., Aida, N., Suzuki, H., Takenouchi, T., Kosaki, K., Patel, M. S., Kurosawa, K. & Nishimura, G., Jan 2026, In: European Journal of Human Genetics. 34, 1, p. 147-151 5 p.

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1 Citation (Scopus)

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Mirzaa, G. M., Yan, K., Relator, R., Levesque, M., Jayasinghe, P., Timpano, S., Yalcin, B., Collins, S., Ziegler, A., Pao, E., Oyama, N., Brischoux-Boucher, E., Piard, J., Monaghan, K. G., Guillen Sacoto, M. J., Dobyns, W. B., Park, K. L., Fernández-Mayoralas, D. M., Fernández-Jaén, A. & Jayakar, P. & 46 others, Palomares-Bralo, M., Santos-Simarro, F., Brusco, A., Antona, V., Giorgio, E., Kvarnung, M., Isidor, B., Conrad, S., Cogné, B., Deb, W., Stuurman, K. E., Štěrbová, K., Smal, N., Weckhuysen, S., Oegema, R., Innes, A. M., Koboldt, D. C., Ben-Omran, T., Yeh, R. C., Kruer, M. C., Bakhtiari, S., Papavasiliou, A., Moutton, S., Nambot, S., Chanprasert, S., Paolucci, S. A., Miller, K., Burton, B., Kim, K., O’Heir, E., Bruwer, Z., Donald, K. A., Kleefstra, T., Goldstein, A., Angle, B., Bontempo, K., Miny, P., Joset, P., Demurger, F., Hobson, E., Pang, L., Carpenter, L., Li, D., Bonneau, D., Sadikovic, B. & Picketts, D. J., 10 Nov 2025, In: Nature Communications. 16, 1, 9875.

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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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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. Kyra Stuurman

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

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

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

A clinical and genotype-phenotype analysis of MACF1 variants