Publications

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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
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. 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)