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Shahnaz Hamid Ibrahim

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Shahnaz Hamid Ibrahim

  • Pakistan

1996 …2026

Research activity per year

Personal profile

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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Collaborations and top research areas from the last five years

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  • Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

    Dominik, N., Efthymiou, S., Record, C. J., Miao, X., Lin, R. Q., Parmar, J. M., Scardamaglia, A., Maroofian, R., Lowe, S. A., Aughey, G. N., Wilson, A. D., Curro, R., Schnekenberg, R. P., Alavi, S., Leclaire, L., He, Y., Zhelcheska, K., Bellaïche, Y., Gaugué, I. & Skorupinska, M. & 61 others, Van de Vondel, L., Da’as, S. I., Turchetti, V., Güngör, S., Monahan, G. V., Karimiani, E. G., Jamshidi, Y., Lamont, P. J., Armirola-Ricaurte, C., Topaloglu, H., Jordanova, A., Zaman, M., Banu, S. H., Marques, W., Tomaselli, P. J., Aynekin, B., Cansu, A., Per, H., Güleç, A., Alvi, J. R., Sultan, T., Khan, A., Zifarelli, G., Ibrahim, S., Mancini, G. M. S., Motazacker, M. M., Brusse, E., Lupo, V., Sevilla, T., Başak, A. N., Tekgul, S., Palvadeau, R. J., Baets, J., Parman, Y., Çakar, A., Horvath, R., Haack, T. B., Stahl, J. H., Grundmann-Hauser, K., Park, J., Zuchner, S., Laing, N. G., Wilson, L. A., Rossor, A. M., Polke, J., Figueiredo, F. B., Pessoa, A., Kok, F., Coimbra-Neto, A. R., Franca, M. C., Ravenscroft, G., Hamed, S. A., Chung, W. K., Pittman, A. M., Osborn, D. P., Hanna, M., Cortese, A., Reilly, M. M., Jepson, J. E. C., Lamarche-Vane, N. & Houlden, H., 2 Feb 2026, In: Journal of Clinical Investigation. 136, 3, p. 1-20 20 p., e184474.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan

    Aziz, B., Arif, A. A., Kazi, K., Kirmani, S., Ansar, Z., Nasir, A., Ibrahim, S. H., Ahmed, K. M., Hasan, Z. & Khan, S., Mar 2025, In: Journal of Neuromuscular Diseases. 12, 2, p. 260-270 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

    Dominik, N., Efthymiou, S., Record, C. J., Miao, X., Lin, R. Q., Parmar, J. M., Scardamaglia, A., Maroofian, R., Lowe, S. A., Aughey, G. N., Wilson, A. D., Curro, R., Schnekenberg, R. P., Alavi, S., Leclaire, L., He, Y., Zhelcheska, K., Bellaïche, Y., Gaugué, I. & Skorupinska, M. & 61 others, Vondel, L. V. D., Da'as, S. I., Turchetti, V., Güngör, S., Monahan, G. V., Karimiani, E. G., Jamshidi, Y., Lamont, P. J., Armirola-Ricaurte, C., Topaloglu, H., Jordanova, A., Zaman, M., Banu, S. H., Marques, W., Tomaselli, P. J., Aynekin, B., Cansu, A., Per, H., Güleç, A., Alvi, J. R., Sultan, T., Khan, A., Zifarelli, G., Ibrahim, S., Mancini, G. M. S., Motazacker, M. M., Brusse, E., Lupo, V., Sevilla, T., Başak, A. N., Tekgul, S., Palvadeau, R. J., Baets, J., Parman, Y., Çakar, A., Horvath, R., Haack, T. B., Stahl, J. H., Grundmann-Hauser, K., Park, J., Zuchner, S., Laing, N. G., Wilson, L. A., Rossor, A. M., Polke, J., Figueiredo, F. B., Pessoa, A., Kok, F., Coimbra-Neto, A. R., Jr, M. C. F., Ravenscroft, G., Hamed, S. A., Chung, W. K., Pittman, A. M., Osborn, D. P., Hanna, M., Cortese, A., Reilly, M. M., Jepson, J. E. C., Lamarche-Vane, N. & Houlden, H., 2025, In: Journal of Clinical Investigation. 135, 23, e184474.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

    Cali, E., Quirin, T., Rocca, C., Efthymiou, S., Riva, A., Marafi, D., Zaki, M. S., Suri, M., Dominguez, R., Elbendary, H. M., Alavi, S., Abdel-Hamid, M. S., Morsy, H., Mau-Them, F. T., Nizon, M., Tesner, P., Ryba, L., Zafar, F., Rana, N. & Saadi, N. W. & 109 others, Firoozfar, Z., Gencpinar, P., Unay, B., Ustun, C., Bruel, A. L., Coubes, C., Stefanich, J., Sezer, O., Agolini, E., Novelli, A., Vasco, G., Lettori, D., Milh, M., Villard, L., Zeidler, S., Opperman, H., Strehlow, V., Issa, M. Y., El Khassab, H., Chand, P., Ibrahim, S., Rashidi-Nezhad, A., Miryounesi, M., Larki, P., Morrison, J., Cristian, I., Thiffault, I., Bertsch, N. L., Noh, G. J., Pappas, J., Moran, E., Marinakis, N. M., Traeger-Synodinos, J., Hosseini, S., Abbaszadegan, M. R., Caumes, R., Vissers, L. E. L. M., Neshatdoust, M., Montazer Zohour, M., El Fahime, E., Canavati, C., Kamal, L., Kanaan, M., Askander, O., Voinova, V., Levchenko, O., Haider, S., Halbach, S. S., Elias Maia, R., Mansoor, S., Jain, V., Tawde, S., Challa, V. S. R., Gowda, V. K., Srinivasan, V. M., Victor, L. A., Pinero-Banos, B., Hague, J., ElAwady, H. A., Maria de Miranda Henriques-Souza, A., Cheema, H. A., Anjum, M. N., Idkaidak, S., Alqarajeh, F., Atawneh, O., Mor-Shaked, H., Harel, T., Zifarelli, G., Bauer, P., Kok, F., Kitajima, J. P., Monteiro, F., Josahkian, J., Lesca, G., Chatron, N., Ville, D., Murphy, D., Neul, J. L., Mullegama, S. V., Begtrup, A., Herman, I., Mitani, T., Posey, J. E., Tay, C. G., Javed, I., Carr, L., Kanani, F., Beecroft, F., Hane, L., Abdelkreem, E., Macek, M., Bispo, L., Elmaksoud, M. A., Hashemi-Gorji, F., Pehlivan, D., Amor, D. J., Jamra, R. A., Chung, W. K., Ghayoor Karimiani, E., Campeau, P. M., Alkuraya, F. S., Pagnamenta, A. T., Gleeson, J. G., Lupski, J. R., Striano, P., Moreno-De-Luca, A., Lafontaine, D. L. J., Houlden, H. & Maroofian, R., Apr 2025, In: Genetics in Medicine. 27, 4, 101251.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    1 Citation (Scopus)

  • Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin

    Woodward, B. L., Lahiri, S., Chauhan, A. S., Garcia, M. R., Goodley, L. E., Clarke, T. L., Pal, M., Agathanggelou, A., Jhujh, S. S., Ganesh, A. N., Hollins, F. M., Deforie, V. G., Maroofian, R., Efthymiou, S., Meinhardt, A., Mathew, C. G., Simpson, M. A., Mefford, H. C., Faqeih, E. A. & Rosenzweig, S. D. & 16 others, Volpi, S., Di Matteo, G., Cancrini, C., Scardamaglia, A., Shackley, F., Davies, E. G., Ibrahim, S., Arkwright, P. D., Zaki, M. S., Stankovic, T., Taylor, A. M. R., Mazur, A. J., Di Donato, N., Houlden, H., Rothenberg, E. & Stewart, G. S., Dec 2025, In: Nature Communications. 16, 1, 4491.

    Research output: Contribution to journal › Article › peer-review

    Open Access
View all 85 research outputs