Rick van Minkelen

Survival estimates and their predictors in genetic frontotemporal dementia: an international, retrospective, cohort study

Bouzigues, A., Grassi, M., Cantoni, V., GENFI Consortium (-investigators), Premi, E., Bellini, S., Binetti, G., Logroscino, G., Russell, L. L., Ferry-Bolder, E., Foster, P. H., van Swieten, J. C., Jiskoot, L. C., Seelaar, H., Sanchez-Valle, R., Laforce, R., Graff, C., Galimberti, D., Vandenberghe, R. & de Mendonça, A. & 31 others, Di Fede, G., Santana, I., Gerhard, A., Langheinrich, T., Levin, J., Nacmias, B., Otto, M., Bertoux, M., Lebouvier, T., Ducharme, S., Butler, C., le Ber, I., Bruffaerts, R., Solje, E., Kinnunen, M., Krüger, J., Finger, E., Tartaglia, M. C., Masellis, M., Rowe, J. B., Synofzik, M., Moreno, F., Ghidoni, R., Migliaccio, R., Rohrer, J. D., Poos, J., Papma, J. M., Giannini, L., de Boer, L., de Houwer, J. & van Minkelen, R., Aug 2026, In: The Lancet Neurology. 25, 8, p. 731-740 10 p.

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Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling

Vernimmen, V., De Rycke, M., Moutou, C., Dreesen, J., Blok, M. J., Van Minkelen, R., Lauer-Zillhardt, J., Verdyck, P., Keymolen, K., Van Uum, C., Homminga, I., Brandts, L., Stumpel, C. T. R. M., Coonen, E., Heijligers, M., Van Zelst-Stams, W., Zamani Esteki, M., Van den Wijngaard, A., De Die-Smulders, C. E. M. & Paulussen, A. D. C., Feb 2026, In: Human Reproduction. 41, 2, p. 285-295 11 p.

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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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Anatomical progression of genetic frontotemporal lobar degeneration across the lifespan

Planche, V., Mansencal, B., Fonov, V., Manjon, J. V., Tourdias, T., Bouzigues, A., Russell, L. L., Foster, P. H., Ferry-Bolder, E., Van Swieten, J. C., Jiskoot, L. C., Seelaar, H., Sanchez-Valle, R., Laforce, R., Graff, C., Galimberti, D., Vandenberghe, R., De Mendonça, A., Tiraboschi, P. & Santana, I. & 119 others, Gerhard, A., Levin, J., Sorbi, S., Otto, M., Bertoux, M., Lebouvier, T., Butler, C. R., Le Ber, I., Finger, E., Tartaglia, M. C., Masellis, M., Rowe, J. B., Synofzik, M., Moreno, F., Borroni, B., Rohrer, J. D., Collins, D. L., Ducharme, S., Coupé, P., Convery, R., Bocchetta, M., Cash, D., Goldsmith, S., Samra, K., Thomas, D. L., Malpetti, M., Alberici, A., Premi, E., Gasparotti, R., Cantoni, V., Arighi, A., Fenoglio, C., Borracci, V., Serpente, M., Carandini, T., Rotondo, E., Rossi, G., Giaccone, G., Di Fede, G., Caroppo, P., Prioni, S., Redaelli, V., Tang-Wai, D., Rogaeva, E., Krüger, J., Castelo-Branco, M., Freedman, M., Keren, R., Black, S., Mitchell, S., Shoesmith, C., Bartha, R., Rademakers, R., Poos, J., Papma, J. M., Giannini, L., De Boer, L., De Houwer, J., Van Minkelen, R., Pijnenburg, Y., Nacmias, B., Ferrari, C., Polito, C., Lombardi, G., Bessi, V., Fainardi, E., Chiti, S., Nilsson, M., Viklund, H., Rydell, M. T., Jelic, V., Öijerstedt, L., Langheinrich, T., Lladó, A., Antonell, A., Olives, J., Balasa, M., Borrego-Ecija, S., Verdelho, A., Maruta, C., Costa-Coelho, T., Miltenberger, G., Do Couto, F. S., Gabilondo, A., Croitoru, I., Tainta, M., Barandiaran, M., Alves, P., Bender, B., Mengel, D., Graf, L., Vogels, A., Vandenbulcke, M., Van Damme, P., Bruffaerts, R., Poesen, K., Rosa-Neto, P., Montembeault, M., Migliaccio, R. L., Burgos, N., Rinaldi, D., Prix, C., Wlasich, E., Wagemann, O., Schönecker, S., Bernhardt, A. M., Stockbauer, A., Lombardi, J., Anderl-Straub, S., Rollin, A., Kuchcinski, G., Deramecourt, V., Durães, J., Lima, M., Leitão, M. J., Almeida, M. R., Tábuas-Pereira, M., Afonso, S. & Lemos, J., Nov 2025, In: Brain. 148, 11, p. 3880-3892 13 p.

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Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

Smits, D. J., Debuy, C., Brooks, A. S., Schot, R., Ferraro, F., Rots, D., Bouman, A., Verhoeven, V. J. M., Kaat, L. D., Kant, S. G., van Bever, Y., Demirdas, S., Zeidler, S., van Dooren, M. F., Donze, S. H., Hoefsloot, L. H., van Slegtenhorst, M. A., Wilke, M., Sleutels, F. & Drost, M. & 14 others, Bruggenwirth, H. T., van Minkelen, R., Goverde, A., Hol, J. A., van de Laar, I. M. B. H., van Ierland, Y., Kievit, A., van der Schoot, V., Stuurman, K. E., Mancini, G. M. S., Wessels, M. W., van Ham, T. J., Kleefstra, T. & Barakat, T. S., Oct 2025, In: European Journal of Human Genetics. 33, 10, p. 1281-1289 9 p.

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dr. Rick van Minkelen

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Survival estimates and their predictors in genetic frontotemporal dementia: an international, retrospective, cohort study

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling

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

Anatomical progression of genetic frontotemporal lobar degeneration across the lifespan

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders