Clinical Genetics

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Collaborations and top research areas from the last five years

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  • Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

    Pottier, C., Küçükali, F., Baker, M., Batzler, A., Jenkins, G. D., van Blitterswijk, M., Vicente, C. T., De Coster, W., Wynants, S., Van de Walle, P., Ross, O. A., Murray, M. E., Faura, J., Haggarty, S. J., van Rooij, J. G., Mol, M. O., Hsiung, G. Y. R., Graff, C., Öijerstedt, L. & Neumann, M. & 99 others, Asmann, Y., McDonnell, S. K., Baheti, S., Josephs, K. A., Whitwell, J. L., Bieniek, K. F., Forsberg, L., Heuer, H., Lago, A. L., Geier, E. G., Yokoyama, J. S., Oddi, A. P., Flanagan, M., Mao, Q., Hodges, J. R., Kwok, J. B., Domoto-Reilly, K., Synofzik, M., Wilke, C., Onyike, C., Dickerson, B. C., Evers, B. M., Dugger, B. N., Munoz, D. G., Keith, J., Zinman, L., Rogaeva, E., Suh, E. R., Gefen, T., Geula, C., Weintraub, S., Diehl-Schmid, J., Farlow, M. R., Edbauer, D., Woodruff, B. K., Caselli, R. J., Donker Kaat, L. L., Huey, E. D., Reiman, E. M., Mead, S., King, A., Roeber, S., Nana, A. L., Ertekin-Taner, N., Knopman, D. S., Petersen, R. C., Petrucelli, L., Uitti, R. J., Wszolek, Z. K., Ramos, E. M., Grinberg, L. T., Tempini, M. L. G., Rosen, H. J., Spina, S., Piguet, O., Grossman, M., Trojanowski, J. Q., Keene, C. D., Jin, L. W., Prudlo, J., Geschwind, D. H., Rissman, R. A., Cruchaga, C., Ghetti, B., Halliday, G. M., Beach, T. G., Serrano, G. E., Arzberger, T., Herms, J., Boxer, A. L., Honig, L. S., Vonsattel, J. P., Lopez, O. L., Kofler, J., White, C. L., Gearing, M., Glass, J., Rohrer, J. D., Irwin, D. J., Lee, E. B., Van Deerlin, V., Castellani, R., Mesulam, M. M., Tartaglia, M. C., Finger, E. C., Troakes, C., Al-Sarraj, S., Dalgard, C. L., Miller, B. L., Seelaar, H., Graff-Radford, N. R., Boeve, B. F., Mackenzie, I. R., van Swieten, J. C., Seeley, W. W., Sleegers, K., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Dec 2025, In: Nature Communications. 16, 1, 3914.

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

    Open Access
    File
    2 Citations (Scopus)
    35 Downloads (Pure)

  • An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

    Woods, E., Holmes, N., Denommé-Pichon, A. S., Vincent, M., Belova, N., Gooch, C., Isidor, B., Ockeloen, C. W., Pavlidou, E., Stewart, H., Verhoeven, V. J. M., Ververi, A., Dixit, A., Sarkar, A., Legg, R., Reid, E. & Balasubramanian, M., Nov 2025, In: American Journal of Medical Genetics, Part A. 197, 11, e64157.

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

    Open Access
    File
    2 Citations (Scopus)

  • AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

    Gear, R., Kalitsis, P., Glass, M., Isidor, B., Vincent-Delorme, C., Petit, F., Verhagen, J. M. A., Jorge, A., Krepischi, A. C. V., Osei-Owusu, I., Martinez, E., O'Donnell-Luria, A., de Leeuw, N., Ruggiero, S., Helbig, I., David, F. & Brown, N. J., Nov 2025, In: American Journal of Medical Genetics, Part A. 197, 11, e64153.

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

    Open Access
    File
    2 Downloads (Pure)
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View all 16 prizes
  • 1 Oral presentation

  • De "maakbare" mens

    Galjaard, H. (Speaker)

    7 May 2001

    Activity: Talk or presentation › Oral presentation › Academic

View all 6 press/media