No photo of Jamal Nasir
1991 …2019

Research output per year

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Research Output

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

Nasir, J., 10 Apr 2019, In : Brain. 142, 5, p. 1242-1254 13 p.

Research output: Contribution to JournalArticle

Open Access
  • De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

    Vadgama, N., Pittman, A., Simpson, M., Nirmalananthan, N., Murray, R., Yoshikawa, T., De Rijk, P., Rees, E., Kirov, G., Hughes, D., Fitzgerald, T., Kristiansen, M., Pearce, K., Cerveira, E., Zhu, Q., Zhang, C., Lee, C., Hardy, J. & Nasir, J., 18 Mar 2019, In : European journal of human genetics : EJHG. 27, p. 1121-1133 13 p.

    Research output: Contribution to JournalArticle

    Open Access
    File
  • Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke

    Vadgama, N., Lamont, D., Hardy, J., Nasir, J. & Lovering, R. C., 15 Jun 2019, In : Molecular and Cellular Biochemistry. 456, 1-2, p. 157-165 9 p.

    Research output: Contribution to JournalArticle

    Open Access
    File
  • Open Access
    File
  • A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

    Mohamoud, H. S., Ahmed, S., Jelani, M., Alrayes, N., Childs, K., Vadgama, N., Almramhi, M. M., Al-Aama, J. Y., Goodbourn, S. & Nasir, J., 1 Dec 2018, In : Scientific Reports. 8, 1, 2053.

    Research output: Contribution to JournalArticle

    Open Access
    File
  • Elevated γ-glutamyltransferase and erythrocyte sedimentation rate in ischemic stroke in discordant monozygotic twin study

    Vadgama, N., Gaze, D., Ranson, J., Hardy, J. & Nasir, J., 1 Jun 2015, In : International Journal of Stroke. 10, 4, p. E32-E33 2 p.

    Research output: Contribution to JournalArticle

  • Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

    Ahmed, S., Jelani, M., Alrayes, N., Mohamoud, H. S. A., Almramhi, M. M., Anshasi, W., Ahmed, N. A. B., Wang, J., Nasir, J. & Al-Aama, J. Y., 15 Jun 2015, In : Journal of the Neurological Sciences. 353, 1-2, p. 149-154 6 p.

    Research output: Contribution to JournalArticle

  • Identical non-identical twins and non-identical identical twins

    Vadgama, N., Nirmalananthan, N., Sadiq, M., Hardy, J. & Nasir, J., 11 Dec 2015, In : BMJ (Online). 351, p. 1-1 1 p.

    Research output: Contribution to JournalLetter