Meral Gunay-Aygun

Associate Professor

1992 …2020

Research output per year

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Research Output

Healthcare recommendations for Joubert syndrome

Bachmann-Gagescu, R., Dempsey, J. C., Bulgheroni, S., Chen, M. L., D'Arrigo, S., Glass, I. A., Heller, T., Héon, E., Hildebrandt, F., Joshi, N., Knutzen, D., Kroes, H. Y., Mack, S. H., Nuovo, S., Parisi, M. A., Snow, J., Summers, A. C., Symons, J. M., Zein, W. M., Boltshauser, E. & 4 others, Sayer, J. A., Gunay-Aygun, M., Valente, E. M. & Doherty, D., Jan 1 2020, In : American Journal of Medical Genetics, Part A. 182, 1, p. 229-249 21 p.

Research output: Contribution to journalReview article

Open Access
  • High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

    Higashimoto, T., Kim, A. Y., Ogawa, J. T., Sloan, J. L., Almuqbil, M. A., Carlson, J. M., Manoli, I., Venditti, C. P., Gunay-Aygun, M. & Wang, T., Jan 1 2020, In : JIMD Reports. 51, 1, p. 17-24 8 p.

    Research output: Contribution to journalArticle

    Open Access
  • Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T. T., Eio, M. Y., Narayanan, G., Utami, K. H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H. M., Gunay-Aygun, M., Muriello, M. J., Verhelst, H., Weckhuysen, S. & 65 others, Mahida, S., Naidu, S., Thomas, T. G., Lim, J. Y., Tan, E. S., Haye, D., Willemsen, M. A. A. P., Oegema, R., Mitchell, W. G., Pierson, T. M., Andrews, M. V., Willing, M. C., Rodan, L. H., Barakat, T. S., van Slegtenhorst, M., Gavrilova, R. H., Martinelli, D., Gilboa, T., Tamim, A. M., Hashem, M. O., AlSayed, M. D., Abdulrahim, M. M., Al-Owain, M., Awaji, A., Mahmoud, A. A. H., Faqeih, E. A., Asmari, A. A., Algain, S. M., Jad, L. A., Aldhalaan, H. M., Helbig, I., Koolen, D. A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A. Y. J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L. E., Klee, E. W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M. A., Stewart, J. C., Claridge-Chang, A., Lefeber, D. J., Alkuraya, F. S., Mathuru, A. S., Venkatesh, B., Barycki, J. J., Simpson, M. A., Jamuar, S. S., Schöls, L. & Reversade, B., Dec 1 2020, In : Nature communications. 11, 1, 595.

    Research output: Contribution to journalArticle

    Open Access
  • Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

    Ramsbottom, S. A., Thelwall, P. E., Wood, K. M., Clowry, G. J., Devlin, L. A., Silbermann, F., Spiewak, H. L., Shril, S., Molinari, E., Hildebrandt, F., Gunay-Aygun, M., Saunier, S., Cordell, H. J., Sayer, J. A. & Miles, C. G., Jan 14 2020, In : Proceedings of the National Academy of Sciences of the United States of America. 117, 2, p. 1113-1118 6 p.

    Research output: Contribution to journalArticle

    Open Access
  • Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

    Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K., Burton, B., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M. & 11 others, Reyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286 11 p.

    Research output: Contribution to journalArticle