2023 Publications

Alam, A. et al., 2023. Modelling the inflammatory response of traumatic brain injury using human induced pluripotent stem cell derived microglia. Journal of Neurotrauma 40 (19-20), pp.2164-2173. (10.1089/neu.2022.0508)
Bailey, G. et al. 2023. Use of remote monitoring and integrated platform for the evaluation of sleep quality in adult-onset idiopathic cervical dystonia. Journal of Neurology 270 , pp.1759-1769. (10.1007/s00415-022-11490-4)
Bailey, G. et al. 2023. Accelerometer-derived sleep measures in idiopathic dystonia: A UK Biobank cohort study. Brain and Behavior 13 (9) e2933. (10.1002/brb3.2933)
Cameron, D. et al. 2023. Single nuclei RNA sequencing of 5 regions of the human prenatal brain implicates developing neuron populations in genetic risk for schizophrenia. Biological Psychiatry 93 , pp.157-166. (10.1016/j.biopsych.2022.06.033)
Casella, C. et al. 2023. Differences in white matter detected by ex vivo 9.4T MRI are associated with axonal changes in the R6/1 model of Huntington’s Disease. [Online].BioRXiv: BioRXiv. (10.1101/2023.10.02.560424)Available at: https://doi.org/10.1101/2023.10.02.560424.
Chawner, S. J. R. A. et al. 2023. Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions. Translational Psychiatry 13 7. (10.1038/s41398-022-02296-z)
Chawner, S. J. et al. 2023. Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions. JCPP Advances 3 (2) e12162. (10.1002/jcv2.12162)
Christie, H. et al., 2023. Exploring the perceived impact of parental PTSD on parents and parenting behaviours – a qualitative study. Journal of Child and Family Studies 32 , pp.3378-3388. (10.1007/s10826-023-02614-z)
Craddock, R. et al. 2023. Experience dependent plasticity of higher visual cortical areas in the mouse. Cerebral Cortex 33 (15), pp.9303-9312. (10.1093/cercor/bhad203)
Daughters, K. , Unwin, K. and Rees, D. A. 2023. The psychological impact of adult-onset craniopharyngioma: A qualitative study of the experience of patients and clinicians. European Journal of Oncology Nursing 65 102346. (10.1016/j.ejon.2023.102346)
Dec, K. et al. 2023. A high ratio of linoleic acid (n-6 PUFA) to alpha-linolenic acid (n-3 PUFA) adversely affects early stage of human neuronal differentiation and electrophysiological activity of glutamatergic neurons in vitro. Frontiers in Cell and Developmental Biology 11 1166808. (10.3389/fcell.2023.1166808)
Dimitriadis, S. I. et al. 2023. Genetic risk for schizophrenia is associated with increased proportion of indirect connections in brain networks revealed by a semi-metric analysis: evidence from population sample stratified for polygenic risk. Cerebral Cortex 33 (6), pp.2997-3011. (10.1093/cercor/bhac256)
Dong, J. and Rees, D. A. 2023. Polycystic Ovary Syndrome: Pathophysiology and therapeutic opportunities. BMJ Medicine 2 e000548. (10.1136/bmjmed-2023-000548)
Donnelly, N. et al., 2023. Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach. Molecular Autism 14 (1) 19. (10.1186/s13229-023-00549-2)
Elhassan, Y. S. et al., 2023. COVID-19-related Adrenal haemorrhage multicentre UK experience and systematic review of the literature. Clinical Endocrinology 98 (6), pp.766-778. (10.1111/cen.14881)
Fernandez Cardo, L. , de la Fuente, D. C. and Li, M. 2023. Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder. Molecular Autism 14 8. (10.1186/s13229-023-00540-x)
Fernandez Cardo, L. et al. 2023. Single-cell transcriptomics and In vitro lineage tracing reveals differential susceptibility of human iPSC-derived midbrain dopaminergic neurons in a cellular model of Parkinson's Disease. Cells 12 (24) 2860. (10.3390/cells12242860)
Fjodorova, M. et al. 2023. Dysfunction of cAMP-Protein Kinase A-calcium signaling axis in striatal medium spiny neurons: a role in schizophrenia and Huntington’s disease neuropathology. Biological Psychiatry: Global Open Science 3 (3), pp.418-429. (10.1016/j.bpsgos.2022.03.010)
Gasalla Canto, P. et al. 2023. Characterisation of the neural basis underlying appetitive extinction & renewal in a Cacna1c rats. Neuropharmacology 227 109444. (10.1016/j.neuropharm.2023.109444)
Griesius, S. et al., 2023. A mild impairment in reversal learning in a bowl-digging substrate deterministic task but not other cognitive tests in the Dlg2+/- rat model of genetic risk for psychiatric disorder. Genes, Brain and Behavior 22 (6) e12865. (10.1111/gbb.12865)
Harwood, A. J. et al. 2023. Editorial: Mental health: cell models to mechanisms. Frontiers in Cell and Developmental Biology 11 1244425. (10.3389/fcell.2023.1244425)
Indrigo, M. et al., 2023. Nuclear ERK1/2 signaling potentiation enhances neuroprotection and cognition via Importinα1/KPNA2. EMBO Molecular Medicine 15 (11) e15984. (10.15252/emmm.202215984)
Keefe, F. et al. 2023. Single-cell transcriptomics reveals conserved regulatory networks in human and mouse interneuron development. International Journal of Molecular Sciences 24 (9) 8122. (10.3390/ijms24098122)
Koceski, A. et al., 2023. Understanding the relationship between distress behaviour and health status of people with autism spectrum disorder. Healthcare 11 (11) 1565. (10.3390/healthcare11111565)
Kopal, J. et al., 2023. Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence. Nature Human Behaviour 7 , pp.1001-1007. (10.1038/s41562-023-01541-9)
Kretz, P. F. et al., 2023. Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein. Genome Biology 24 261. (10.1186/s13059-023-03092-8)
Levy, R. et al., 2023. A cross-sectional study of the neuropsychiatric phenotype of CACNA1C-related disorder. Pediatric Neurology 138 , pp.101-106. (10.1016/j.pediatrneurol.2022.10.013)
Lynham, A. J. et al. 2023. DRAGON-Data: A platform and protocol for integrating genomic and phenotypic data across large psychiatric cohorts. BJPsych Open 9 (2) e32. (10.1192/bjo.2022.636)
MacIver, C. et al. 2023. Macro- and micro-structural Insights into primary dystonia A UK Biobank study. Journal of Neurology (10.1007/s00415-023-12086-2)
Mohammad, F. et al., 2023. Editorial: Advances in understanding synaptic function and its dysfunction in neurological disorders. Frontiers in Molecular Neuroscience 16 (10.3389/fnmol.2023.1239315)
Moreau, C. A. et al., 2023. Brain functional connectivity mirrors genetic pleiotropy in psychiatric conditions. Brain 146 (4), pp.1686-1696. (10.1093/brain/awac315)
Morella, I. et al. 2023. Gut-muscle-brain axis: Molecular mechanisms in neurodegenerative disorders and potential therapeutic efficacy of probiotic supplementation coupled with exercise. Neuropharmacology 240 109718. (10.1016/j.neuropharm.2023.109718)
Niarchou, M. et al., 2023. Psychopathology in mothers of children with pathogenic copy number variants. Journal of Medical Genetics 60 , pp.706-711. (10.1136/jmg-2022-108752)
Nicolaou, K. et al., 2023. Game based learning rehabilitation for children with speech disabilities: Presenting two bespoke video games. Presented at: BCS HCI: 36th International BCS Human-Computer Interaction Conference York, UK 28-29 August 2023.
Okosieme, O. et al. 2023. Cardiovascular morbidity and mortality in patients in Wales, UK with resistance to thyroid hormone β (RTHβ): a linked-record cohort study. The Lancet Diabetes & Endocrinology 11 (9), pp.657-666. (10.1016/S2213-8587(23)00155-9)
Papanikolaou, N. et al., 2023. Clinical characteristics of functioning gonadotroph adenoma in women presenting with ovarian hyperstimulation: audit of UK pituitary centres. Clinical Endocrinology 99 (4), pp.386-395. (10.1111/cen.14949)
Peall, K. et al. 2023. Non-motor symptoms in Dystonia: From diagnosis to treatment. Dystonia 2 11860. (10.3389/dyst.2023.11860)
Pisanò, C. A. et al., 2023. Regulator of G-Protein Signalling 4 (RGS4) negatively modulates nociceptin/orphanin FQ opioid receptor signalling: Implication for l-Dopa-induced dyskinesia. British Journal of Pharmacology 180 (7), pp.927-942. (10.1111/bph.15730)
Polit, L. D. et al., 2023. Recommendations, guidelines, and best practice for the use of human induced pluripotent stem cells for neuropharmacological studies of neuropsychiatric disorders. Neuroscience Applied 2 101125. (10.1016/j.nsa.2023.101125)
Rodrigues, Y. E. et al., 2023. A stochastic model of hippocampal synaptic plasticity with geometrical readout of enzyme dynamics. eLife 12 e80152. (10.7554/eLife.80152)
Rogdaki, M. et al., 2023. Striatal dopaminergic alterations in individuals with copy number variants at the 22q11.2 genetic locus and their implications for psychosis risk: a [18F]-DOPA PET study. Molecular Psychiatry 28 , pp.1995-2006. (10.1038/s41380-021-01108-y)
Schalkamp, A. et al. 2023. Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis. Nature Medicine 29 , pp.2048-2056. (10.1038/s41591-023-02440-2)
Schröder, M. et al., 2023. Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: A retrospective multicenter cohort study. European journal of endocrinology 189 (4), pp.460-468. (10.1093/ejendo/lvad143)
Smith, C. J. et al., 2023. Unravelling the clinical co-morbidity and risk factors associated with agenesis of the corpus callosum. Journal of Clinical Medicine 12 (11) 3623. (10.3390/jcm12113623)
Sperandeo, A. et al. 2023. Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. Brain 146 (4), pp.1523-1541. (10.1093/brain/awac365)
Tax, C. M. W. et al. 2023. Ultra-strong diffusion-weighted MRI reveals cerebellar grey matter abnormalities in movement disorders. NeuroImage: Clinical 38 103419. (10.1016/j.nicl.2023.103419)
Taylor, P. et al. 2023. Age-related variation in thyroid function – a narrative review highlighting important implications for research and clinical practice. Thyroid Research 16 7. (10.1186/s13044-023-00149-5)
Tschaidse, L. et al., 2023. Modified-release hydrocortisone is associated with lower plasma renin activity in patients with salt-wasting congenital adrenal hyperplasia. European Journal of Endocrinology 188 (1) lvac006. (10.1093/ejendo/lvac006)
White, J. et al. 2023. Association between gender minority status and mental health in high schools. Journal of Adolescent Health 72 (5), pp.811-814. (10.1016/j.jadohealth.2022.12.028)
White, R. et al., 2023. Understanding the contributions of trait autism and anxiety to extreme demand avoidance in the adult general population. Journal of Autism and Developmental Disorders 53 , pp.2680-2688. (10.1007/s10803-022-05469-3)
Wolstencroft, J. et al., 2023. Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin. JCPP Advances e12128. (10.1002/jcv2.12128)
Wren, G. et al. 2023. Characterising heart rhythm abnormalities associated with Xp22.31 deletion. Journal of Medical Genetics 60 , pp.636-643. (10.1136/jmg-2022-108862)