• Source: Scopus
20092022

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  • Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

    Scala, M., Wortmann, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T. B., Prokisch, H. & 55 others, Aldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. Á., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R. & Houlden, H., 2022, (Accepted/In press) In: Human Mutation. 43, 3, p. 403-419 17 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
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    1 Citation (Scopus)
    3 Downloads (Pure)
  • Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

    Sanderson, L. E., Lanko, K., Alsagob, M., Almass, R., Al-Ahmadi, N., Najafi, M., Al-Muhaizea, M. A., Alzaidan, H., Aldhalaan, H., Perenthaler, E., Van Der Linde, H. C., Nikoncuk, A., Kühn, N. A., Antony, D., Owaidah, T. M., Raskin, S., Vieira, L. G. D. R., Mombach, R., Ahangari, N., Silveira, T. R. D. & 36 others, Ameziane, N., Rolfs, A., Alharbi, A., Sabbagh, R. M., Alahmadi, K., Alawam, B., Ghebeh, H., Alhargan, A., Albader, A. A., Binhumaid, F. S., Goljan, E., Monies, D., Mustafa, O. M., Aldosary, M., Albakheet, A., Alyounes, B., Almutairi, F., Al-Odaib, A., Aksoy, D. B., Basak, A. N., Palvadeau, R., Trabzuni, D., Rosenfeld, J. A., Karimiani, E. G., Meyer, B. F., Karakas, B., Al-Mohanna, F., Arold, S. T., Colak, D., Maroofian, R., Houlden, H., Bertoli-Avella, A. M., Schmidts, M., Barakat, T. S., Van Ham, T. J. & Kaya, N., 1 Mar 2021, In: Brain. 144, 3, p. 769-780 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
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    9 Citations (Scopus)
    4 Downloads (Pure)
  • Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

    University of Washington Center for Mendelian Genomics, Yap, Z. Y., SYNaPS Study Group, Efthymiou, S., Seiffert, S., Vargas Parra, K., Lee, S., Nasca, A., Maroofian, R., Schrauwen, I., Pendziwiat, M., Jung, S., Bhoj, E., Striano, P., Mankad, K., Vona, B., Cuddapah, S., Wagner, A., Alvi, J. R., Davoudi-Dehaghani, E. & 22 others, Fallah, M. S., Gannavarapu, S., Lamperti, C., Legati, A., Murtaza, B. N., Nadeem, M. S., Rehman, M. U., Saeidi, K., Salpietro, V., von Spiczak, S., Sandoval, A., Zeinali, S., Zeviani, M., Reich, A., Jang, C., Helbig, I., Barakat, T. S., Ghezzi, D., Leal, S. M., Weber, Y., Houlden, H. & Yoon, W. H., 2 Dec 2021, In: American Journal of Human Genetics. 108, 12, p. 2368-2384 17 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    1 Citation (Scopus)
  • Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease

    Sofou, K., Meier, K., Sanderson, L. E., Kaminski, D., Montoliu-Gaya, L., Samuelsson, E., Blomqvist, M., Agholme, L., Gärtner, J., Mühlhausen, C., Darin, N., Barakat, T. S., Schlotawa, L., van Ham, T., Asin Cayuela, J. & Sterky, F. H., 3 May 2021, In: EMBO Molecular Medicine. 13, 5, e13376.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    File
    3 Citations (Scopus)
    1 Downloads (Pure)
  • Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature

    Deng, R., McCalman, M. T., Bossuyt, T. P. & Barakat, T. S., 1 Sep 2021, In: Frontiers in Genetics. 12, 716874.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    File
    23 Downloads (Pure)