Human Mutation, 1059-7794

Journal

Related Publications
  1. A mutation update for the FLNC gene in myopathies and cardiomyopathies

    Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W., Barge-Schaapveld, D. Q. C. M., Koopman, P., Wijngaard, A. V. D., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., Jun-2020, In : Human Mutation. 41, 6, p. 1091-1111 21 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Exome sequencing identifies the first genetic determinants of sirenomelia in humans

    Lecoquierre, F., Brehin, A-C., Coutant, S., Coursimault, J., Bazin, A., Finck, W., Benoist, G., Begorre, M., Beneteau, C., Cailliez, D., Chenal, P., De Jong, M., Degre, S., Devisme, L., Francannet, C., Gerard, B., Jeanne, C., Joubert, M., Journel, H., Laurichesse Delmas, H., Layet, V., Liquier, A., Mangione, R., Patrier, S., Pelluard, F., Petit, F., Tillouche, N., Van Ravenswaaij-Arts, C., Frebourg, T., Saugier-Veber, P., Gruchy, N., Nicolas, G. & Gerard, M., May-2020, In : Human Mutation. 41, 5, p. 926-933 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

    Barnicoat, A., Low, K., Gerkes, E. H., Fry, A. E., Parker, M. J., O'Driscoll, M., Charles, P., Cox, H., Marey, I., Keren, B., Rinne, T., McEntagart, M., Ramachandran, V., Drury, S., Vansenne, F., Sival, D. A., Herkert, J. C., Callewaert, B., Tan, W-H. & Balasubramanian, M., May-2020, In : Human Mutation. 41, 5, p. 1042-1050 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?

    Keppens, C., Tack, V., Dufraing, K., Rouleau, E., Ligtenberg, M. J. L., Schuuring, E. & Dequeker, E. M. C., 14-Oct-2019, In : Human Mutation. 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

    Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T., Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec-2019, In : Human Mutation. 40, 12, p. 2230-2238 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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