drs. E.H. (Erica) Gerkes

Clinical geneticist

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E-mail:
e.h.gerkes umcg.nl

Research

Publications
  1. A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

    Demain, L. A. M., Gerkes, E. H., Smith, R. J. H., Molina-Ramirez, L. P., O'Keefe, R. T. & Newman, W. G., Mar-2020, In : Journal of human genetics. 65, 3, p. 305-311 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. 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

  3. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

    Deciphering Developmental Disorder Study, Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P. R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A-C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Guillen Sacoto, M. J., Schnur, R. E., Zhu, Z., Poisson, A., El Chehadeh, S., Alembik, Y., Bruel, A-L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E. J., Masser-Frye, D., Bird, L. M., Lindstrom, K., Ramsey, K. M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C. G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P., Gerkes, E. H. & Delpienne, C., Mar-2020, In : Genetics in Medicine. 22, 3, p. 524-537 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

    Care4Rare Canada Consortium, Johnstone, D. L., Al-Shekaili, H. H., Tarailo-Graovac, M., Wolf, N. I., Ivy, A. S., Demarest, S., Roussel, Y., Ciapaite, J., van Roermund, C. W. T., Kernohan, K. D., Kosuta, C., Ban, K., Ito, Y., McBride, S., Al-Thihli, K., Abdelrahim, R. A., Koul, R., Al Futaisi, A., Haaxma, C. A., Olson, H., Sigurdardottir, L. Y., Arnold, G. L., Gerkes, E. H., Boon, M., Heiner-Fokkema, M. R., Noble, S., Bosma, M., Jans, J., Koolen, D. A., Kamsteeg, E-J., Drögemöller, B., Ross, C. J., Majewski, J., Cho, M. T., Begtrup, A., Wasserman, W. W., Bui, T., Brimble, E., Violante, S., Houten, S. M., Wevers, R. A., van Faassen, M., Kema, I. P., Lepage, N., Lines, M. A., Dyment, D. A., Wanders, R. J. A., Verhoeven-Duif, N., Ekker, M. & Boycott, K. M., Mar-2019, In : Brain. 142, p. 542-559 18 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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ID: 122401920