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Sarina Kant

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Collaborations and top research areas from the last five years

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  • Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

    Koza, S. A., Tabet, A. C., the European Phelan-McDermid syndrome consortium, Bonaglia, M. C., Andres, S., Anderlid, B. M., Aten, E., Stiefsohn, D., Evans, D. G., van Ravenswaaij-Arts, C. M. A. & Kant, S. G., Jul 2023, In: European Journal of Medical Genetics. 66, 7, 104773.

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

    Open Access
    File
    3 Citations (Scopus)
    16 Downloads (Pure)

  • Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

    van Eeghen, A. M., European Phelan-McDermid syndrome guideline consortium, ERN ITHACA Guideline Working Group, Gaasterland, C. M. W., Haneveld, M. J. K., van Eeghen, A. M., van Eeghen, A. M., van Eeghen, A. M., van Eeghen, A. M., Stemkens, D., Fernández-Fructuoso, J. R., Maruani, A., Maruani, A., Maruani, A., Hadzsiev, K., Hadzsiev, K., van Balkom, I. D. C., van Balkom, I. D. C., van Balkom, I. D. C., Alhambra, N., & 32 othersAnderlid, B. M., Anderlid, B. M., Andres, S., Aten, E., Guedes, R. B., Bonaglia, M. C., Bourgeron, T., Burdeus-Olavarrieta, M., Burdeus-Olavarrieta, M., Carbin, M. J., Kuiper, E., Cooke, J., Damstra, R. J., de Coo, I. F. M., Di Domenico, S., Evans, D. G., Fernández-Fructuoso, J. R., Grabrucker, A. M., Grabrucker, A. M., Grabrucker, A. M., Gunnarson, C., Gunnarson, C., Gunnarson, C., Hennekam, R. C., Jesse, S., Kant, S. G., Koza, S. A., van Ravenswaaij-Arts, C. M. A., Walinga, M., Landlust, A. M., van Ravenswaaij-Arts, C. M. A. & van Eeghen, A. M., Jul 2023, In: European Journal of Medical Genetics. 66, 7, 104747.

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

    Open Access
    File
    1 Citation (Scopus)
    5 Downloads (Pure)

  • Identification of a robust DNA methylation signature for Fanconi anemia

    Pagliara, D., Ciolfi, A., Pedace, L., Haghshenas, S., Ferilli, M., Levy, M. A., Miele, E., Nardini, C., Cappelletti, C., Relator, R., Pitisci, A., De Vito, R., Pizzi, S., Kerkhof, J., McConkey, H., Nazio, F., Kant, S. G., Di Donato, M., Agolini, E., Matraxia, M., & 12 othersPasini, B., Pelle, A., Galluccio, T., Novelli, A., Barakat, T. S., Andreani, M., Rossi, F., Mecucci, C., Savoia, A., Sadikovic, B., Locatelli, F. & Tartaglia, M., 2 Nov 2023, In: American Journal of Human Genetics. 110, 11, p. 1938-1949 12 p.

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

  • Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

    Levitin, M. O., Rawlins, L. E., Sanchez-Andrade, G., Arshad, O. A., Collins, S. C., Sawiak, S. J., Iffland, P. H., Andersson, M. H. L., Bupp, C., Cambridge, E. L., Coomber, E. L., Ellis, I., Herkert, J. C., Ironfield, H., Jory, L., Kretz, P. F., Kant, S. G., Neaverson, A., Nibbeling, E., Rowley, C., & 24 othersRelton, E., Sanderson, M., Scott, E. M., Stewart, H., Shuen, A. Y., Schreiber, J., Tuck, L., Tonks, J., Terkelsen, T., van Ravenswaaij-Arts, C., Vasudevan, P., Wenger, O., Wright, M., Day, A., Hunter, A., Patel, M., Lelliott, C. J., Crino, P. B., Yalcin, B., Crosby, A. H., Baple, E. L., Logan, D. W., Hurles, M. E. & Gerety, S. S., Nov 2023, In: Brain : a journal of neurology. 146, 11, p. 4766-4783 18 p.

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

    Open Access
    File
    1 Citation (Scopus)
    2 Downloads (Pure)

  • Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

    Cousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Carmichael, J., Courtin, T., Cogne, B., Dabaj, I., Doummar, D., Fazilleau, L., Ferlini, A., & 51 othersGavrilova, R. H., Graham, J. M., Haack, T. B., Juusola, J., Kant, S. G., Kayani, S., Keren, B., Ketteler, P., Klöckner, C., Koopmann, T. T., Kruisselbrink, T. M., Kuechler, A., Lambert, L., Latypova, X., Lebel, R. R., Leduc, M. S., Leonardi, E., Lewis, A. M., Liew, W., Machol, K., Mardini, S., McWalter, K., Mignot, C., McLaughlin, J., Murgia, A., Narayanan, V., Nava, C., Neuser, S., Nizon, M., Ognibene, D., Park, J., Platzer, K., Poirsier, C., Radtke, M., Ramsey, K., Runke, C. K., Guillen Sacoto, M. J., Scaglia, F., Shinawi, M., Spranger, S., Tan, E. S., Taylor, J., Trentesaux, A. S., Vairo, F., Willaert, R., Zadeh, N., Urrutia, R., Babovic-Vuksanovic, D., Zimmermann, M. T., Mathie, A. & Klee, E. W., 13 Jun 2022, In: Genome Medicine. 14, 1, 62.

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

    Open Access
    File
    3 Citations (Scopus)
    9 Downloads (Pure)
View all 6 research outputs