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Shahid Mahmood Baig

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Shahid Mahmood Baig

Professor

1992 …2026

Research activity per year

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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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  • A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma

    Anjum, I., Aslam, K., Jamil, T. M., John, M., Baig, S. M., Eiberg, H., Hansen, L. & Tommerup, N., Dec 2026, In: Molecular Biology Reports. 53, 1, 11.

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

  • Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

    Efthymiou, S., Leo, C. P., Deng, C., Lin, S. J., Maroofian, R., Lin, R., Karagoz, I., Zhang, K., Kaiyrzhanov, R., Scardamaglia, A., Owrang, D., Turchetti, V., Jahnke, F., Huang, K., Petree, C., Derrick, A. V., Rees, M. I., Alvi, J. R., Sultan, T. & Li, C. & 80 others, Jacquemont, M. L., Tran-Mau-Them, F., Valenzuela-Palafoll, M., Sidlow, R., Yoon, G., Morrow, M. M., Carere, D. A., O'Connor, M., Fleischer, J., Gerkes, E. H., Phornphutkul, C., Isidor, B., Rivier-Ringenbach, C., Philippe, C., Kurul, S. H., Soydemir, D., Kara, B., Sunnetci-Akkoyunlu, D., Bothe, V., Platzer, K., Wieczorek, D., Koch-Hogrebe, M., Rahner, N., Thuresson, A. C., Matsson, H., Frykholm, C., Bozdoğan, S. T., Bisgin, A., Chatron, N., Lesca, G., Cabet, S., Tümer, Z., Hjortshøj, T. D., Rønde, G., Marquardt, T., Reunert, J., Afzal, E., Zamani, M., Azizimalamiri, R., Galehdari, H., Nourbakhsh, P., Chamanrou, N., Chung, S. K., Suri, M., Benke, P. J., Zaki, M. S., Gleeson, J. G., Calame, D. G., Pehlivan, D., Yilmaz, H. I., Gezdirici, A., Rad, A., Abumansour, I. S., Oprea, G., Bereketoğlu, M. B., Banneau, G., Julia, S., Zeighami, J., Ashoori, S., Shariati, G., Sedaghat, A., Sabri, A., Hamid, M., Parvas, S., Tajudin, T. A., Abdullah, U., Baig, S. M., Chung, W. K., Glazunova, O. O., Sabine, S., Cheema, H. A., Zifarelli, G., Bauer, P., Sidpra, J., Mankad, K., Vona, B., Fry, A. E., Varshney, G. K., Houlden, H. & Fu, D., 1 May 2025, In: American Journal of Human Genetics. 112, 5, p. 1117-1138 22 p.

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

    Open Access
    5 Citations (Scopus)

  • Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

    SYNAPS Study Group, 1 Apr 2025, In: Brain. 148, 4, p. 1194-1211 18 p.

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

    Open Access
    1 Citation (Scopus)

  • SLK is mutated in individuals with a neurodevelopmental disorder

    SYNAPS Study Group & Queen Square Genomics, Jun 2025, In: eBioMedicine. 116, 105725.

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

    Open Access
    2 Citations (Scopus)

  • A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family

    Akram, R., Anwar, H., Muzaffar, H., Turchetti, V., Lau, T., Vona, B., Makhdoom, E. U. H., Iqbal, J., Mahmood Baig, S., Hussain, G., Efthymiou, S. & Houlden, H., Sept 2024, In: Genes. 15, 9, 1203.

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

    Open Access
View all 134 research outputs