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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

  • Child brain health in South Asia: moving from survival to prevention

    Wanigasinghe, J., Lucas, N., Madaan, P. & Ibrahim, S., May 2026, In: The Lancet Regional Health - Southeast Asia. 48, 100760.

    Research output: Contribution to journal › Comment/debate

    Open Access

  • Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management

    Yousaf, H., Ali, S., Moulvi, A. Y., Khalid, L. B., Javed, I., Ghumman, R. Z., Colson, C., Ibrahim, S., Zia, S., Khan, M. M., Brunelle, P., Trujillo-Quintero, J. P., Ruiz, A., Kirmani, S., Houlden, H., Toft, M., Fatima, A. & Iqbal, Z., Dec 2026, In: Human Genomics. 20, 1, 50.

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

    Open Access

  • Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement

    Galassi Deforie, V., Maroofian, R., Karagoz, I., Godwin, A., Al Sheikh, E., Gestri, G., Zaki, M. S., Woodward, B. L., Ghorab, R. M., Alvi, J. R., Alabdi, L., Damseh, N., Elshafie, R. M., Scardamaglia, A., Alves, C., Shaikh, M., Özcan, G. G., Sadek, A. A., Issa, M. Y. & Striano, P. & 46 others, Suri, M., Murphy, D., Ashhab, M., de la Fuente, R. P., Arteche-López, A., Hashem, M. O., Abdulwahab, F., Aboelanine, A. H., Alkhawaja, I. A., Ibrahim, S., van der Burg, M., Berghuis, D., Santen, G. W. E., Toosi, M. B., Alerasool, M., Eslahi, A., Srinivasan, V. M., Gowda, V. K., Trollmann, R., Vasileiou, G., Pauly, M., Hashemi-Gorji, F., Miryounesi, M., Salpietro, V., Al-Herz, W., Carter, S. P., Briggs, T. A., Hussell, T., Ruuska-Loewald, T., Komulainen-Ebrahim, J., Uusimaa, J., Hautala, T., Potluri, S., Shackley, F., Mojarrad, M., Chung, W. K., Wilson, S. W., Sultan, T., Gleeson, J. G., Marafi, D., Alkuraya, F. S., Stewart, G. S., Efthymiou, S., Guille, M., Arkwright, P. D. & Houlden, H., May 2026, In: Genetics in Medicine. 28, 5, 102551.

    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
View all 88 research outputs