Publications
Browse our publications to find articles, books, reports and papers written by experts in their field.
Many of our researchers make their full text freely available to view and share, supporting research innovation on a global scale.
Recent publications
- Al-Enezi, E. et al., 2024. Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report.. Journal of Medical Case Reports 18 422. (10.1186/s13256-024-04746-2)
- Bailey, G. et al. 2024. Prevalence and temporal relationship of clinical co-morbidities in idiopathic dystonia: A UK linkage-based study. Journal of Neurology 271 , pp.3398-3408. (10.1007/s00415-024-12284-6)
- Boen, R. et al., 2024. Beyond the global brain differences: Intra-individual variability differences in 1q21.1 distal and 15q11.2 BP1-BP2 deletion carriers. Biological Psychiatry 95 (2), pp.147-160. (10.1016/j.biopsych.2023.08.018)
- Bosworth, M. L. et al. 2024. Sex-dependent effects of Setd1a haploinsufficiency on development and adult behaviour. PLoS ONE (10.1371/journal.pone.0298717)
- Cabezas De La Fuente, D. et al. 2024. Impaired oxysterol-liver X receptor signaling underlies aberrant cortical neurogenesis in a human stem cell model of neurodevelopmental disorder. Cell Reports 43 (3) 113946. (10.1016/j.celrep.2024.113946)
- Correa-da-Silva, F. et al., 2024. Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion. Acta Neuropathologica 147 64. (10.1007/s00401-024-02714-0)
- El-Farhan, N. et al., 2024. Salivary cortisol response to ACTH stimulation is a reliable alternative to serum cortisol in evaluating hypoadrenalism. The Journal of Clinical Endocrinology & Metabolism 109 (2), pp.e579-e588. dgad576. (10.1210/clinem/dgad576)
- Evans, C. et al., 2024. Current utility of first-line FT4 and TSH in screening for central hypothyroidism. Clinical Endocrinology 101 (1), pp.78-84. (10.1111/cen.15068)
- Frasca, A. et al., 2024. Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway.. EMBO Molecular Medicine (10.1038/s44321-024-00144-9)
- Ge, R. et al., 2024. Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome. Human Brain Mapping 45 (1) e26553. (10.1002/hbm.26553)
- Green, K. et al. 2024. Pearls and Oy-sters: AARS2 leukodystrophy – tremor and tribulations. Neurology 102 (8)(10.1212/WNL.0000000000209296)
- Haddon, J. E. et al. 2024. Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility. Translational Psychiatry 14 (1) 256. (10.1038/s41398-024-02969-x)
- Hennegan, J. et al., 2024. Inhibition of 7α,26-dihydroxycholesterol biosynthesis promotes midbrain dopaminergic neuron development. iScience 27 (1) 108670. (10.1016/j.isci.2023.108670)
- Hunt, M. et al., 2024. Risk of physical health comorbidities in autistic adults: a clinical nested cross-sectional study. BJPsych Open 10 (6) e182. (10.1192/bjo.2024.777)
- Li, Z. , Abram, L. and Peall, K. 2024. Deciphering the pathophysiological mechanisms underpinning myoclonus dystonia using pluripotent stem cell-derived cellular models. Cells 13 (18) 1520. (10.3390/cells13181520)
- Li, Z. et al. 2024. Differential growth and transcriptomic profile of stem cell-derived midbrain astrocytes. eLife 13 RP96423. (10.7554/eLife.96423.1)
- Stojanovska, I. et al., 2024. The utilization of psychopharmacological treatments for individuals with autism spectrum disorder (ASD) in a middle-income European country. Research in Autism Spectrum Disorders 111 102329. (10.1016/j.rasd.2024.102329)
- Wellard, N. L. et al. 2024. The association of hippocampal long-term potentiation-induced gene expression with genetic risk for psychosis. International Journal of Molecular Sciences 25 (2) 946. (10.3390/ijms25020946)
- Wheeler, V. C. et al., 2024. The instability of the Huntington's disease CAG repeat mutation. In: Yang, X. W. , Thompson, L. M. and Heiman, M. eds. Huntington's disease. Pathogenic mechanisms and implications for therapeutics. London, UK: Academic Press. , pp.85-115. (10.1016/B978-0-323-95672-7.00003-0)
- Wren, G. et al. 2024. Memory, mood and associated neuroanatomy in individuals with steroid sulfatase deficiency (X-linked ichthyosis). Genes, Brain and Behavior 23 (3) e12893. (10.1111/gbb.12893)
- Wren, G. et al. 2024. Monitoring heart rhythms in adult males with X-linked ichthyosis using wearable technology: a feasibility study. [Online].Research Square. Available at: https://www.researchsquare.com/article/rs-5320157/v1.
- Wren, G. H. and Davies, W. 2024. Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X linked ichthyosis): candidate anatomical and biochemical pathways. Essays in Biochemistry EBC20230098. (10.1042/EBC20230098)
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