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Lihadh Ibrahim Al Gazali

1988 …2023

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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 journal › Article › peer-review

    Open Access
    16   Link opens in a new tab 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 journal › Article › peer-review

    Open Access
    26   Link opens in a new tab 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 journal › Article › peer-review

    Open Access
    11   Link opens in a new tab 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 journal › Article › peer-review

    Open Access
    15   Link opens in a new tab 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 journal › Comment/debate › peer-review

    Open Access
    3   Link opens in a new tab Citations (Scopus)
View all 292 research outputs