Calculated based on number of publications stored in Pure and citations from Scopus
1988 …2023

Research activity per year

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Collaborations and top research areas from the last five years

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  • Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

    Maroofian, R., Kaiyrzhanov, R., Cali, E., Zamani, M., Zaki, M. S., Ferla, M., Tortora, D., Sadeghian, S., Saadi, S. M., Abdullah, U., Karimiani, E. G., Efthymiou, S., Yeşil, G., Alavi, S., Al Shamsi, A. M., Tajsharghi, H., Abdel-Hamid, M. S., Saadi, N. W., Al Mutairi, F. & Alabdi, L. & 66 others, Beetz, C., Ali, Z., Toosi, M. B., Rudnik-Schöneborn, S., Babaei, M., Isohanni, P., Muhammad, J., Khan, S., Al Shalan, M., Hickey, S. E., Marom, D., Elhanan, E., Kurian, M. A., Marafi, D., Saberi, A., Hamid, M., Spaull, R., Meng, L., Lalani, S., Maqbool, S., Rahman, F., Seeger, J., Palculict, T. B., Lau, T., Murphy, D., Mencacci, N. E., Steindl, K., Begemann, A., Rauch, A., Akbas, S., Aslanger, A. D., Salpietro, V., Yousaf, H., Ben-Shachar, S., Ejeskär, K., Al Aqeel, A. I., High, F. A., Armstrong-Javors, A. E., Zahraei, S. M., Seifi, T., Zeighami, J., Shariati, G., Sedaghat, A., Asl, S. N., Shahrooei, M., Zifarelli, G., Burglen, L., Ravelli, C., Zschocke, J., Schatz, U. A., Ghavideldarestani, M., Kamel, W. A., Van Esch, H., Hackenberg, A., Taylor, J. C., Al-Gazali, L., Bauer, P., Gleeson, J. J., Alkuraya, F. S., Lupski, J. R., Galehdari, H., Azizimalamiri, R., Chung, W. K., Baig, S. M., Houlden, H. & Severino, M., Dec 1 2023, In: Brain. 146, 12, p. 5031-5043 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Citations (Scopus)
  • Entwined African and Asian genetic roots of medieval peoples of the Swahili coast

    Brielle, E. S., Fleisher, J., Wynne-Jones, S., Sirak, K., Broomandkhoshbacht, N., Callan, K., Curtis, E., Iliev, L., Lawson, A. M., Oppenheimer, J., Qiu, L., Stewardson, K., Workman, J. N., Zalzala, F., Ayodo, G., Gidna, A. O., Kabiru, A., Kwekason, A., Mabulla, A. Z. P. & Manthi, F. K. & 24 others, Ndiema, E., Ogola, C., Sawchuk, E., Al-Gazali, L., Ali, B. R., Ben-Salem, S., Letellier, T., Pierron, D., Radimilahy, C., Rakotoarisoa, J. A., Raaum, R. L., Culleton, B. J., Mallick, S., Rohland, N., Patterson, N., Mwenje, M. A., Ahmed, K. B., Mohamed, M. M., Williams, S. R., Monge, J., Kusimba, S., Prendergast, M. E., Reich, D. & Kusimba, C. M., Mar 30 2023, In: Nature. 615, 7954, p. 866-873 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Citations (Scopus)
  • Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

    Bizzari, S., Nair, P., Hana, S., Deepthi, A., Al-Ali, M. T., Al-Gazali, L. & El-Hayek, S., 2023, In: Frontiers in Genetics. 14, 1177204.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    4 Citations (Scopus)
  • A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

    SYNaPS Study Group, Oct 2022, In: Genetics in Medicine. 24, 10, p. 2194-2203 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    4 Citations (Scopus)
  • Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features (Nature Genetics, (2009), 41, 9, (1016-1021), 10.1038/ng.413)

    Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y., Shboul, M., Tham, P. Y., Kayserili, H., Al-Gazali, L., Shahwan, M., Brancati, F., Lee, H., O’Connor, B. D., Kegler, M. S. V., Merriman, B., Nelson, S. F., Masri, A., Alkazaleh, F. & Guerra, D. & 27 others, Ferrari, P., Nanda, A., Rajab, A., Markie, D., Gray, M., Nelson, J., Grix, A., Sommer, A., Savarirayan, R., Janecke, A. R., Steichen, E., Sillence, D., Haußer, I., Budde, B., Nürnberg, G., Nürnberg, P., Seemann, P., Kunkel, D., Zambruno, G., Dallapiccola, B., Schuelke, M., Robertson, S., Hamamy, H., Wollnik, B., Van Maldergem, L., Mundlos, S. & Kornak, U., Feb 2022, In: Nature Genetics. 54, 2, p. 213 1 p.

    Research output: Contribution to journalComment/debatepeer-review

    Open Access
    2 Citations (Scopus)