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Jamal Nasir


  • Senior Lecturer in Human Genetics & Genomics, Science

Accepting PhD Students

1991 …2019
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Genes Medicine & Life Sciences
Exome Medicine & Life Sciences
Monozygotic Twins Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Mutation Medicine & Life Sciences
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Proteins Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences

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Research Output 1991 2019

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 journalArticleResearchpeer-review

Open Access
1 Downloads (Pure)

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 journalArticleResearchpeer-review

Open Access
Monozygotic Twins
Amyotrophic Lateral Sclerosis
Schizotypal Personality Disorder

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 journalArticleResearchpeer-review

Monozygotic Twins
Gene Ontology
Atopic Dermatitis

Overexpression of the dopamine receptor‐interacting protein Alix/ AIP 1 modulates NMDA receptor‐triggered cell death

Nasir, J., 1 Jun 2019, In : FEBS Letters. 593, 12, p. 1381-1391

Research output: Contribution to journalArticleResearchpeer-review

Cell death
N-Methyl-D-Aspartate Receptors
Cell Death
2 Downloads (Pure)

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 journalArticleResearchpeer-review

Open Access
Missense Mutation
Intellectual Disability
Language Development Disorders