Meral Gunay-Aygun

Professor

1992 …2021

Research activity per year

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  • Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

    Chowdhury, F., Wang, L., Al-Raqad, M., Amor, D. J., Baxová, A., Bendová, Š., Biamino, E., Brusco, A., Caluseriu, O., Cox, N. J., Froukh, T., Gunay-Aygun, M., Hančárová, M., Haynes, D., Heide, S., Hoganson, G., Kaname, T., Keren, B., Kosaki, K., Kubota, K. & 24 others, Lemons, J. M., Magriña, M. A., Mark, P. R., McDonald, M. T., Montgomery, S., Morley, G. M., Ohnishi, H., Okamoto, N., Rodriguez-Buritica, D., Rump, P., Sedláček, Z., Schatz, K., Streff, H., Uehara, T., Walia, J. S., Wheeler, P. G., Wiesener, A., Zweier, C., Kawakami, K., Wentzensen, I. M., Lalani, S. R., Siu, V. M., Bi, W. & Balci, T. B., 2021, (Accepted/In press) In: Genetics in Medicine.

    Research output: Contribution to journalArticlepeer-review

  • Consensus clinical management guidelines for Alström syndrome

    Tahani, N., Maffei, P., Dollfus, H., Paisey, R., Valverde, D., Milan, G., Han, J. C., Favaretto, F., Madathil, S. C., Dawson, C., Armstrong, M. J., Warfield, A. T., Düzenli, S., Francomano, C. A., Gunay-Aygun, M., Dassie, F., Marion, V., Valenti, M., Leeson-Beevers, K., Chivers, A. & 3 others, Steeds, R., Barrett, T. & Geberhiwot, T., Sep 21 2020, In: Orphanet journal of rare diseases. 15, 1, 253.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • 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 articlepeer-review

    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 2020, In: JIMD Reports. 51, 1, p. 17-24 8 p.

    Research output: Contribution to journalArticlepeer-review

    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 journalArticlepeer-review

    Open Access
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