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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 JournalArticle

Open Access
Autophagy
Phosphatidylinositols
Mutation
Pedigree
Genes

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
Monozygotic Twins
Nucleotides
Genes
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 JournalArticle

Monozygotic Twins
Proteomics
Stroke
Gene Ontology
Atopic Dermatitis
Cell death
N-Methylaspartate
N-Methyl-D-Aspartate Receptors
Dopamine
Cell Death
2018

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
Missense Mutation
Intellectual Disability
Polydactyly
Exome
Language Development Disorders
2015

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

Twin Studies
Monozygotic Twins
Blood Sedimentation
Stroke
Anticonvulsants

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

Exome
Missense Mutation
Primary Ovarian Insufficiency
Genes
Puberty

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

Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

Alrayes, N., Mohamoud, H. S. A., Jelani, M., Ahmad, S., Vadgama, N., Bakur, K., Simpson, M., Al-Aama, J. Y. & Nasir, J., 27 Jun 2015, In : BMC Research Notes. 8, 1

Research output: Contribution to JournalArticle

Open Access
Phospholipases A1
Hereditary Spastic Paraplegia
Intellectual Disability
Mutation
Genes