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  • 2022

    Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

    Wongkittichote, P., Magistrati, M., Shimony, J. S., Smyser, C. D., Fatemi, S. A., Fine, A. S., Bellacchio, E., Dallabona, C. & Shinawi, M., Aug 2022, In: Molecular genetics and metabolism. 136, 4, p. 260-267 8 p.

    Research output: Contribution to journalArticlepeer-review

  • 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., Dec 2022, In: Genome medicine. 14, 1, 62.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder

    Meuwissen, M., Verstraeten, A., Ranza, E., Iwaszkiewicz, J., Bastiaansen, M., Mateiu, L., Nemegeer, M., Meester, J. A. N., Afenjar, A., Amaral, M., Ballhausen, D., Barnett, S., Barth, M., Asselbergh, B., Spaas, K., Heeman, B., Bassetti, J., Blackburn, P., Schaer, M., Blanc, X., & 21 othersZoete, V., Casas, K., Courtin, T., Doummar, D., Guerry, F., Keren, B., Pappas, J., Rabin, R., Begtrup, A., Shinawi, M., Vulto-van Silfhout, A. T., Kleefstra, T., Wagner, M., Ziegler, A., Schaefer, E., Gerard, B., De Bie, C. I., Holwerda, S. J. B., Abbot, M. A., Antonarakis, S. E. & Loeys, B., Jul 2022, In: Genetics in Medicine. 24, 7, p. 1583-1591 9 p.

    Research output: Contribution to journalArticlepeer-review

  • Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

    Steele, J. L., Morrow, M. M., Sarnat, H. B., Alkhunaizi, E., Brandt, T., Chitayat, D. A., DeFilippo, C. P., Douglas, G. V., Dubbs, H. A., Elloumi, H. Z., Glassford, M. R., Hannibal, M. C., Héron, B., Kim, L. E., Marco, E. J., Mignot, C., Monaghan, K. G., Myers, K. A., Parikh, S., Quinonez, S. C., & 7 othersRajabi, F., Shankar, S. P., Shinawi, M. S., van de Kamp, J. J. P., Veerapandiyan, A., Waldman, A. T. & Graf, W. D., Jan 2022, In: Pediatric Neurology. 126, p. 65-73 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations