![Antonio Pardinas PhD FHEA MSRB](https://profiles-cardiff.imgix.net/attachments/2535?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Dr Antonio Pardinas
(he/him)
PhD FHEA MSRB
Senior Lecturer, Division of Psychological Medicine and Clinical Neurosciences
- PardinasA@cardiff.ac.uk
- +44 29206 88407
- Hadyn Ellis Building, Room 2.30, Maindy Road, Cardiff, CF24 4HQ
- Available for postgraduate supervision
Overview
My research is based around the role of genetic factors in the development of psychiatric disorders. Within the Centre for Neuropsychiatric Genetics and Genomics, I work with Professor James Walters and others on treatment-resistant schizophrenia (TRS), widely recognised as the most impairing form of this disorder and a significant global contributor to years lived with disability. I am a member of the Psychosis Research Theme and collaborate frequently with the Schizophrenia Working Group of the Psychiatric Genomics Consortium. I am also involved in the development of the CRIS system with NCMH and Cardiff and Vale University Health Board.
Publication
2024
- Kappel, D. et al. 2024. Rare variants in pharmacogenes influence clozapine metabolism in individuals with schizophrenia. European Neuropsychopharmacology 80, pp. 47-54. (10.1016/j.euroneuro.2023.12.007)
- Sportelli, L. et al. 2024. A striatal co-expression schizophrenia risk gene set predicts in vivo measures of striatal function. Nature Communications
- Legge, S. et al. 2024. An assessment of the genetic and phenotypic features of Schizophrenia in the UK biobank. JAMA Psychiatry
- Koch, E. et al. 2024. How real-world data can facilitate the development of precision medicine treatment in psychiatry. Biological Psychiatry (10.1016/j.biopsych.2024.01.001)
2023
- Guintivano, J. et al. 2023. Meta-analyses of genome-wide association studies for postpartum depression. The American Journal of Psychiatry 180(12), pp. 884-895. (10.1176/appi.ajp.20230053)
- Griffiths, K. et al. 2023. Treatment resistance NMDA receptor pathway polygenic score is associated with brain glutamate in schizophrenia. Schizophrenia Research 260, pp. 152-159. (10.1016/j.schres.2023.08.020)
- Yuan, K. et al. 2023. Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases. European Neuropsychopharmacology 75(Supp 1), pp. S6-S7. (10.1016/j.euroneuro.2023.08.021)
- Lock, S. K. et al. 2023. Mediation and longitudinal analysis to interpret the association between clozapine pharmacokinetics, pharmacogenomics, and absolute neutrophil count. Schizophrenia 9, article number: 74. (10.1038/s41537-023-00404-6)
- Ollà, I. et al. 2023. Pathogenic mis-splicing of CPEB4 in schizophrenia. Biological Psychiatry 94(4), pp. 341-351. (10.1016/j.biopsych.2023.03.010)
- Chen, Z. et al. 2023. The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases. Neurobiology of Disease 180, article number: 106082. (10.1016/j.nbd.2023.106082)
- Millgate, E. et al. 2023. Cognitive performance at first episode of psychosis and the relationship with future treatment resistance: Evidence from an international prospective cohort study. Schizophrenia Research 255, pp. 173-181. (10.1016/j.schres.2023.03.020)
- 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), article number: e32. (10.1192/bjo.2022.636)
- Pardinas, A. F. et al. 2023. Pharmacokinetics and pharmacogenomics of clozapine in an ancestrally diverse sample: a longitudinal analysis and genome-wide association study using UK clinical monitoring data. The Lancet Psychiatry 10(3), pp. 209-219. (10.1016/S2215-0366(23)00002-0)
- Owen, D., Antypas, D., Hassoulas, A., Pardinas, A., Espinosa-Anke, L. and Camacho Collados, J. 2023. Enabling early health care intervention by detecting depression in users of web-based forums using Language models: longitudinal analysis and evaluation. JMIR AI 2, article number: e41205. (10.2196/41205)
- Manca, R., Pardinas, A. and Venneri, A. 2023. The neural signatures of psychoses in Alzheimer’s disease: a neuroimaging genetics approach. European Archives of Psychiatry and Clinical Neuroscience 273, pp. 253-267. (10.1007/s00406-022-01432-6)
- Pillinger, T. et al. 2023. Effect of polygenic risk for schizophrenia on cardiac structure and function: a UK Biobank observational study. The Lancet Psychiatry 10(2), pp. 98-107. (10.1016/S2215-0366(22)00403-5)
- Kappel, D. B. et al. 2023. Genomic stratification of clozapine prescription patterns using schizophrenia polygenic scores. Biological Psychiatry 93, pp. 149-156. (10.1016/j.biopsych.2022.07.014)
2022
- Pistis, G. et al. 2022. Gene set enrichment analysis of pathophysiological pathways highlights oxidative stress in psychosis. Molecular Psychiatry 27, pp. 5135-5143. (10.1038/s41380-022-01779-1)
- Smart, S. E. et al. 2022. Clinical predictors of antipsychotic treatment resistance: Development and internal validation of a prognostic prediction model by the STRATA-G consortium. Schizophrenia Research 250, pp. 1-9. (10.1016/j.schres.2022.09.009)
- D’Ambrosio, E. et al. 2022. A polygenic score indexing a DRD2 -related co-expression network is associated with striatal dopamine function. Scientific Reports 12(1), article number: 12610. (10.1038/s41598-022-16442-6)
- Trubetskoy, V. et al. 2022. Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. Nature 604, pp. 502-508. (10.1038/s41586-022-04434-5)
- Okhuijsen-Pfeifer, C. et al. 2022. Genome-wide association analyses of symptom severity among clozapine-treated patients with schizophrenia spectrum disorders. Translational Psychiatry 12, article number: 145. (10.1038/s41398-022-01884-3)
- Alonso-Llamazares, C., Lopez, B. and Pardinas, A. 2022. Sex differences in the distribution of entheseal changes Meta-analysis of published evidence and its use in Bayesian paleopathological modelling. American Journal of Physical Anthropology 177(2), pp. 249-265. (10.1002/ajpa.24425)
- Sanders, B. et al. 2022. Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. Nature Communications 13(1), article number: 27. (10.1038/s41467-021-27601-0)
- Pardinas, A. et al. 2022. Interaction testing and polygenic risk scoring to estimate the contribution of common genetic variants to treatment resistance in schizophrenia. JAMA Psychiatry 79(3), pp. 260-269. (10.1001/jamapsychiatry.2021.3799)
2021
- Di Florio, A. et al. 2021. Post-partum psychosis and its association with bipolar disorder in the UK: a case-control study using polygenic risk scores. The Lancet Psychiatry 8(12), pp. 1045-1052. (10.1016/S2215-0366(21)00253-4)
- Pardinas, A. F., Owen, M. J. and Walters, J. T. 2021. Pharmacogenomics: A road ahead for precision medicine in psychiatry. Neuron 109(24), pp. 3914-3929. (10.1016/j.neuron.2021.09.011)
- Clifton, N. E. et al. 2021. Developmental profile of psychiatric risk associated with voltage-gated cation channel activity. Biological Psychiatry 90(6) (10.1016/j.biopsych.2021.03.009)
- Martin, J. et al. 2021. Examining sex differences in neurodevelopmental and psychiatric genetic risk in anxiety and depression. PLoS ONE 16(9), article number: e0248254. (10.1371/journal.pone.0248254)
- Cleynen, I. et al. 2021. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Molecular Psychiatry, pp. 4496-4510. (10.1038/s41380-020-0654-3)
- Legge, S. et al. 2021. Associations between schizophrenia polygenic liability, symptom dimensions, and cognitive ability in schizophrenia. JAMA Psychiatry 78(10), pp. 1143-1151. (10.1001/jamapsychiatry.2021.1961)
- Clifton, N. E. et al. 2021. Genetic association of FMRP targets with psychiatric disorders. Molecular Psychiatry 26, pp. 2977-2990. (10.1038/s41380-020-00912-2)
- Alonso-Llamazares, C., Blanco Márquez, B., Lopez, B. and Pardinas, A. F. 2021. Assessing individual and population variability in degenerative joint disease prevalence using generalized linear mixed models. American Journal of Physical Anthropology 175(3), pp. 611-625. (10.1002/ajpa.24195)
- Hubbard, L. et al. 2021. Rare copy number variations are associated with poorer cognition in schizophrenia. Biological Psychiatry 90(1), pp. 28-34. (10.1016/j.biopsych.2020.11.025)
- Byrne, E. et al. 2021. Conditional GWAS analysis to identify disorder-specific SNPs for psychiatric disorders. Molecular Psychiatry 26, pp. 2070-2081. (10.1038/s41380-020-0705-9)
- Mullins, N. et al. 2021. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics 53, pp. 817-829. (10.1038/s41588-021-00857-4)
- Willcocks, I. et al. 2021. Clozapine metabolism is associated with absolute neutrophil count in individuals with treatment-resistant schizophrenia. Frontiers in Pharmacology 12, article number: 658734. (10.3389/fphar.2021.658734)
- Konte, B. et al. 2021. HLA-DQB1 6672G>C (rs113332494) is associated with clozapine-induced neutropenia and agranulocytosis in individuals of European ancestry. Translational Psychiatry 11, article number: 214. (10.1038/s41398-021-01322-w)
2020
- Santiago, E., Novo, I., Pardinas, A. F., Saura, M., Wang, J. and Caballero, A. 2020. Recent demographic history inferred by high-resolution analysis of linkage disequilibrium. Molecular Biology and Evolution 37(12), pp. 3642-3653. (10.1093/molbev/msaa169)
- Kendall, K. M. et al. 2020. Impact of schizophrenia genetic liability on the association between schizophrenia and physical illness: a data linkage study. BJPsych Open 6(6), article number: e139. (10.1192/bjo.2020.42)
- Legge, S. E. et al. 2020. The Duffy-null genotype and risk of infection. Human Molecular Genetics 29(20), pp. 3341-3349. (10.1093/hmg/ddaa208)
- Grama, S. et al. 2020. Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort. Translational Psychiatry 10, article number: 309. (10.1038/s41398-020-00940-0)
- Legge, S. et al. 2020. Clinical indicators of treatment-resistant psychosis. British Journal of Psychiatry 216(5), pp. 259-266. (10.1192/bjp.2019.120)
- Richards, A. et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46(2), pp. -. (10.1093/schbul/sbz061)
- Dennison, C. A., Legge, S. E., Pardinas, A. F. and Walters, J. T. 2020. Genome-wide association studies in schizophrenia: Recent advances, challenges and future perspective. Schizophrenia Research 217, pp. 4-12. (10.1016/j.schres.2019.10.048)
- Rees, E. et al. 2020. De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. Nature Neuroscience 23(2), pp. 179-184. (10.1038/s41593-019-0565-2)
- Hall, L. S. et al. 2020. A transcriptome-wide association study implicates specific pre- and post-synaptic abnormalities in schizophrenia. Human Molecular Genetics 29(1), pp. 159-167. (10.1093/hmg/ddz253)
2019
- Legge, S. E. et al. 2019. Association of genetic liability to psychotic experiences with neuropsychotic disorders and traits. JAMA Psychiatry 76(12), pp. 1256-1265. (10.1001/jamapsychiatry.2019.2508)
- Chapman, R. M. et al. 2019. Convergent evidence that ZNF804A is a regulator of pre-messenger RNA processing and gene expression. Schizophrenia Bulletin 45(6), pp. 1267-1278. (10.1093/schbul/sby183)
- D'Ambrosio, E. et al. 2019. The effect of a genetic variant at the schizophrenia associated AS3MT/BORCS7 locus on striatal dopamine function: A PET imaging study. Psychiatry Research: Neuroimaging 291, pp. 34-41. (10.1016/j.pscychresns.2019.07.005)
- Pain, O. et al. 2019. Novel insight into the etiology of autism spectrum disorder gained by integrating expression data with genome-wide association statistics. Biological Psychiatry 86(4), pp. 265-273. (10.1016/j.biopsych.2019.04.034)
- Escott-Price, V., Pardinas, A. F., Santiago, E., Walters, J., Kirov, G., Owen, M. J. and O'Donovan, M. C. 2019. The relationship between common variant schizophrenia liability and number of offspring in the UK Biobank. American Journal of Psychiatry 176(8), pp. 661-666. (10.1176/appi.ajp.2018.18020140)
- Pardinas, A. F. et al. 2019. Pharmacogenomic variants and drug interactions identified through the genetic analysis of clozapine metabolism. American Journal of Psychiatry 176(6), pp. 477-486. (10.1176/appi.ajp.2019.18050589)
- Pettersson, E. et al. 2019. Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls. Psychological Medicine 49(7), pp. 1166-1173. (10.1017/S0033291718002039)
- Huckins, L. M. et al. 2019. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nature Genetics 51, pp. 659-674. (10.1038/s41588-019-0364-4)
- Rees, E. et al. 2019. Targeted sequencing of 10,198 samples confirms abnormalities in neuronal activity and implicates voltage-gated sodium channels in schizophrenia pathogenesis. Biological Psychiatry 85(7), pp. 554-562. (10.1016/j.biopsych.2018.08.022)
- Legge, S. E. et al. 2019. A genome-wide association study in individuals of African ancestry reveals the importance of the Duffy-null genotype in the assessment of clozapine-related neutropenia. Molecular Psychiatry 24, pp. 328-337. (10.1038/s41380-018-0335-7)
2018
- Li, M. et al. 2018. Integrative functional genomic analysis of human brain development and neuropsychiatric risks. Science 362(6420), article number: eaat7615. (10.1126/science.aat7615)
- O'Brien, H. E. et al. 2018. Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders. Genome Biology 19, article number: 194. (10.1186/s13059-018-1567-1)
- Dahoun, T. et al. 2018. The effect of the DISC1 Ser704Cys polymorphism on striatal dopamine synthesis capacity: an [18F]-DOPA PET study. Human Molecular Genetics 27(20), pp. 3498-3506. (10.1093/hmg/ddy242)
- Alonso-Llamazares, C., Gomez, C., Garcia-Manrique, P., Pardinas, A. F. and Lopez, B. 2018. Medical diagnostic methods applied to a medieval female with vitamin D deficiency from the North of Spain. International Journal of Paleopathology 22, pp. 109-120. (10.1016/j.ijpp.2018.07.007)
- Skene, N. G. et al. 2018. Genetic identification of brain cell types underlying schizophrenia. Nature Genetics 50, pp. 825-833. (10.1038/s41588-018-0129-5)
- Pardinas, A. F. et al. 2018. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nature Genetics 50, pp. 381-389. (10.1038/s41588-018-0059-2)
2017
- Gomes, C. et al. 2017. Phenotyping the ancient world: the physical appearance and ancestry of very degraded samples from a chalcolithic human remains. Forensic Science International: Genetics Supplement Series 6, pp. e484-e486. (10.1016/j.fsigss.2017.09.188)
- Legge, S. E. et al. 2017. Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia. Molecular Psychiatry 22, pp. 1502-1508. (10.1038/mp.2016.97)
- Hensman Moss, D. J. et al. 2017. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. Lancet Neurology 16(9), pp. 701-711. (10.1016/S1474-4422(17)30161-8)
- Lopez, B., Lopez-Garcia, J. M., Costilla, S., Garcia- Vazquez, E., Dopico, E. and Pardinas, A. 2017. Treponemal disease in the Old World? Integrated paleopathological assessment of a 9th-11th century skeleton from North-Central Spain. Anthropological Science 125(2), pp. 101-114. (10.1537/ase.170515)
- Allardyce, J. et al. 2017. Psychosis and the level of mood incongruence in Bipolar Disorder are related to genetic liability for Schizophrenia. [Online]. bioRxiv. Available at: http://dx.doi.org/10.1101/160119
2016
- Huelga-Suarez, G., Fernandez, S. D., Moldavan, M., Pardinas, A., Lopez, B. and Alonso, J. I. G. 2016. The quest for the Soldier's Rest: Combining anthropological and archaeochemical approaches to study social and occupational diversity in the Medieval graveyard of San Andres de Arroyo (Palencia, Spain). Anthropological Science 124(3), article number: 161005. (10.1537/ase.161005)
- Rees, E. et al. 2016. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry 73(9), pp. 963-969. (10.1001/jamapsychiatry.2016.1831)
- Pardinas, A. et al. 2016. Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. [Online]. bioRxiv. (10.1101/068593) Available at: http://dx.doi.org/10.1101/068593
- Aas, M. et al. 2016. Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014 [Conference Material]. Psychiatric Genetics 26(1), pp. 1-47. (10.1097/YPG.0000000000000112)
Articles
- Kappel, D. et al. 2024. Rare variants in pharmacogenes influence clozapine metabolism in individuals with schizophrenia. European Neuropsychopharmacology 80, pp. 47-54. (10.1016/j.euroneuro.2023.12.007)
- Sportelli, L. et al. 2024. A striatal co-expression schizophrenia risk gene set predicts in vivo measures of striatal function. Nature Communications
- Legge, S. et al. 2024. An assessment of the genetic and phenotypic features of Schizophrenia in the UK biobank. JAMA Psychiatry
- Koch, E. et al. 2024. How real-world data can facilitate the development of precision medicine treatment in psychiatry. Biological Psychiatry (10.1016/j.biopsych.2024.01.001)
- Guintivano, J. et al. 2023. Meta-analyses of genome-wide association studies for postpartum depression. The American Journal of Psychiatry 180(12), pp. 884-895. (10.1176/appi.ajp.20230053)
- Griffiths, K. et al. 2023. Treatment resistance NMDA receptor pathway polygenic score is associated with brain glutamate in schizophrenia. Schizophrenia Research 260, pp. 152-159. (10.1016/j.schres.2023.08.020)
- Yuan, K. et al. 2023. Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases. European Neuropsychopharmacology 75(Supp 1), pp. S6-S7. (10.1016/j.euroneuro.2023.08.021)
- Lock, S. K. et al. 2023. Mediation and longitudinal analysis to interpret the association between clozapine pharmacokinetics, pharmacogenomics, and absolute neutrophil count. Schizophrenia 9, article number: 74. (10.1038/s41537-023-00404-6)
- Ollà, I. et al. 2023. Pathogenic mis-splicing of CPEB4 in schizophrenia. Biological Psychiatry 94(4), pp. 341-351. (10.1016/j.biopsych.2023.03.010)
- Chen, Z. et al. 2023. The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases. Neurobiology of Disease 180, article number: 106082. (10.1016/j.nbd.2023.106082)
- Millgate, E. et al. 2023. Cognitive performance at first episode of psychosis and the relationship with future treatment resistance: Evidence from an international prospective cohort study. Schizophrenia Research 255, pp. 173-181. (10.1016/j.schres.2023.03.020)
- 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), article number: e32. (10.1192/bjo.2022.636)
- Pardinas, A. F. et al. 2023. Pharmacokinetics and pharmacogenomics of clozapine in an ancestrally diverse sample: a longitudinal analysis and genome-wide association study using UK clinical monitoring data. The Lancet Psychiatry 10(3), pp. 209-219. (10.1016/S2215-0366(23)00002-0)
- Owen, D., Antypas, D., Hassoulas, A., Pardinas, A., Espinosa-Anke, L. and Camacho Collados, J. 2023. Enabling early health care intervention by detecting depression in users of web-based forums using Language models: longitudinal analysis and evaluation. JMIR AI 2, article number: e41205. (10.2196/41205)
- Manca, R., Pardinas, A. and Venneri, A. 2023. The neural signatures of psychoses in Alzheimer’s disease: a neuroimaging genetics approach. European Archives of Psychiatry and Clinical Neuroscience 273, pp. 253-267. (10.1007/s00406-022-01432-6)
- Pillinger, T. et al. 2023. Effect of polygenic risk for schizophrenia on cardiac structure and function: a UK Biobank observational study. The Lancet Psychiatry 10(2), pp. 98-107. (10.1016/S2215-0366(22)00403-5)
- Kappel, D. B. et al. 2023. Genomic stratification of clozapine prescription patterns using schizophrenia polygenic scores. Biological Psychiatry 93, pp. 149-156. (10.1016/j.biopsych.2022.07.014)
- Pistis, G. et al. 2022. Gene set enrichment analysis of pathophysiological pathways highlights oxidative stress in psychosis. Molecular Psychiatry 27, pp. 5135-5143. (10.1038/s41380-022-01779-1)
- Smart, S. E. et al. 2022. Clinical predictors of antipsychotic treatment resistance: Development and internal validation of a prognostic prediction model by the STRATA-G consortium. Schizophrenia Research 250, pp. 1-9. (10.1016/j.schres.2022.09.009)
- D’Ambrosio, E. et al. 2022. A polygenic score indexing a DRD2 -related co-expression network is associated with striatal dopamine function. Scientific Reports 12(1), article number: 12610. (10.1038/s41598-022-16442-6)
- Trubetskoy, V. et al. 2022. Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. Nature 604, pp. 502-508. (10.1038/s41586-022-04434-5)
- Okhuijsen-Pfeifer, C. et al. 2022. Genome-wide association analyses of symptom severity among clozapine-treated patients with schizophrenia spectrum disorders. Translational Psychiatry 12, article number: 145. (10.1038/s41398-022-01884-3)
- Alonso-Llamazares, C., Lopez, B. and Pardinas, A. 2022. Sex differences in the distribution of entheseal changes Meta-analysis of published evidence and its use in Bayesian paleopathological modelling. American Journal of Physical Anthropology 177(2), pp. 249-265. (10.1002/ajpa.24425)
- Sanders, B. et al. 2022. Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. Nature Communications 13(1), article number: 27. (10.1038/s41467-021-27601-0)
- Pardinas, A. et al. 2022. Interaction testing and polygenic risk scoring to estimate the contribution of common genetic variants to treatment resistance in schizophrenia. JAMA Psychiatry 79(3), pp. 260-269. (10.1001/jamapsychiatry.2021.3799)
- Di Florio, A. et al. 2021. Post-partum psychosis and its association with bipolar disorder in the UK: a case-control study using polygenic risk scores. The Lancet Psychiatry 8(12), pp. 1045-1052. (10.1016/S2215-0366(21)00253-4)
- Pardinas, A. F., Owen, M. J. and Walters, J. T. 2021. Pharmacogenomics: A road ahead for precision medicine in psychiatry. Neuron 109(24), pp. 3914-3929. (10.1016/j.neuron.2021.09.011)
- Clifton, N. E. et al. 2021. Developmental profile of psychiatric risk associated with voltage-gated cation channel activity. Biological Psychiatry 90(6) (10.1016/j.biopsych.2021.03.009)
- Martin, J. et al. 2021. Examining sex differences in neurodevelopmental and psychiatric genetic risk in anxiety and depression. PLoS ONE 16(9), article number: e0248254. (10.1371/journal.pone.0248254)
- Cleynen, I. et al. 2021. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Molecular Psychiatry, pp. 4496-4510. (10.1038/s41380-020-0654-3)
- Legge, S. et al. 2021. Associations between schizophrenia polygenic liability, symptom dimensions, and cognitive ability in schizophrenia. JAMA Psychiatry 78(10), pp. 1143-1151. (10.1001/jamapsychiatry.2021.1961)
- Clifton, N. E. et al. 2021. Genetic association of FMRP targets with psychiatric disorders. Molecular Psychiatry 26, pp. 2977-2990. (10.1038/s41380-020-00912-2)
- Alonso-Llamazares, C., Blanco Márquez, B., Lopez, B. and Pardinas, A. F. 2021. Assessing individual and population variability in degenerative joint disease prevalence using generalized linear mixed models. American Journal of Physical Anthropology 175(3), pp. 611-625. (10.1002/ajpa.24195)
- Hubbard, L. et al. 2021. Rare copy number variations are associated with poorer cognition in schizophrenia. Biological Psychiatry 90(1), pp. 28-34. (10.1016/j.biopsych.2020.11.025)
- Byrne, E. et al. 2021. Conditional GWAS analysis to identify disorder-specific SNPs for psychiatric disorders. Molecular Psychiatry 26, pp. 2070-2081. (10.1038/s41380-020-0705-9)
- Mullins, N. et al. 2021. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics 53, pp. 817-829. (10.1038/s41588-021-00857-4)
- Willcocks, I. et al. 2021. Clozapine metabolism is associated with absolute neutrophil count in individuals with treatment-resistant schizophrenia. Frontiers in Pharmacology 12, article number: 658734. (10.3389/fphar.2021.658734)
- Konte, B. et al. 2021. HLA-DQB1 6672G>C (rs113332494) is associated with clozapine-induced neutropenia and agranulocytosis in individuals of European ancestry. Translational Psychiatry 11, article number: 214. (10.1038/s41398-021-01322-w)
- Santiago, E., Novo, I., Pardinas, A. F., Saura, M., Wang, J. and Caballero, A. 2020. Recent demographic history inferred by high-resolution analysis of linkage disequilibrium. Molecular Biology and Evolution 37(12), pp. 3642-3653. (10.1093/molbev/msaa169)
- Kendall, K. M. et al. 2020. Impact of schizophrenia genetic liability on the association between schizophrenia and physical illness: a data linkage study. BJPsych Open 6(6), article number: e139. (10.1192/bjo.2020.42)
- Legge, S. E. et al. 2020. The Duffy-null genotype and risk of infection. Human Molecular Genetics 29(20), pp. 3341-3349. (10.1093/hmg/ddaa208)
- Grama, S. et al. 2020. Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort. Translational Psychiatry 10, article number: 309. (10.1038/s41398-020-00940-0)
- Legge, S. et al. 2020. Clinical indicators of treatment-resistant psychosis. British Journal of Psychiatry 216(5), pp. 259-266. (10.1192/bjp.2019.120)
- Richards, A. et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46(2), pp. -. (10.1093/schbul/sbz061)
- Dennison, C. A., Legge, S. E., Pardinas, A. F. and Walters, J. T. 2020. Genome-wide association studies in schizophrenia: Recent advances, challenges and future perspective. Schizophrenia Research 217, pp. 4-12. (10.1016/j.schres.2019.10.048)
- Rees, E. et al. 2020. De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. Nature Neuroscience 23(2), pp. 179-184. (10.1038/s41593-019-0565-2)
- Hall, L. S. et al. 2020. A transcriptome-wide association study implicates specific pre- and post-synaptic abnormalities in schizophrenia. Human Molecular Genetics 29(1), pp. 159-167. (10.1093/hmg/ddz253)
- Legge, S. E. et al. 2019. Association of genetic liability to psychotic experiences with neuropsychotic disorders and traits. JAMA Psychiatry 76(12), pp. 1256-1265. (10.1001/jamapsychiatry.2019.2508)
- Chapman, R. M. et al. 2019. Convergent evidence that ZNF804A is a regulator of pre-messenger RNA processing and gene expression. Schizophrenia Bulletin 45(6), pp. 1267-1278. (10.1093/schbul/sby183)
- D'Ambrosio, E. et al. 2019. The effect of a genetic variant at the schizophrenia associated AS3MT/BORCS7 locus on striatal dopamine function: A PET imaging study. Psychiatry Research: Neuroimaging 291, pp. 34-41. (10.1016/j.pscychresns.2019.07.005)
- Pain, O. et al. 2019. Novel insight into the etiology of autism spectrum disorder gained by integrating expression data with genome-wide association statistics. Biological Psychiatry 86(4), pp. 265-273. (10.1016/j.biopsych.2019.04.034)
- Escott-Price, V., Pardinas, A. F., Santiago, E., Walters, J., Kirov, G., Owen, M. J. and O'Donovan, M. C. 2019. The relationship between common variant schizophrenia liability and number of offspring in the UK Biobank. American Journal of Psychiatry 176(8), pp. 661-666. (10.1176/appi.ajp.2018.18020140)
- Pardinas, A. F. et al. 2019. Pharmacogenomic variants and drug interactions identified through the genetic analysis of clozapine metabolism. American Journal of Psychiatry 176(6), pp. 477-486. (10.1176/appi.ajp.2019.18050589)
- Pettersson, E. et al. 2019. Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls. Psychological Medicine 49(7), pp. 1166-1173. (10.1017/S0033291718002039)
- Huckins, L. M. et al. 2019. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nature Genetics 51, pp. 659-674. (10.1038/s41588-019-0364-4)
- Rees, E. et al. 2019. Targeted sequencing of 10,198 samples confirms abnormalities in neuronal activity and implicates voltage-gated sodium channels in schizophrenia pathogenesis. Biological Psychiatry 85(7), pp. 554-562. (10.1016/j.biopsych.2018.08.022)
- Legge, S. E. et al. 2019. A genome-wide association study in individuals of African ancestry reveals the importance of the Duffy-null genotype in the assessment of clozapine-related neutropenia. Molecular Psychiatry 24, pp. 328-337. (10.1038/s41380-018-0335-7)
- Li, M. et al. 2018. Integrative functional genomic analysis of human brain development and neuropsychiatric risks. Science 362(6420), article number: eaat7615. (10.1126/science.aat7615)
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- Alonso-Llamazares, C., Gomez, C., Garcia-Manrique, P., Pardinas, A. F. and Lopez, B. 2018. Medical diagnostic methods applied to a medieval female with vitamin D deficiency from the North of Spain. International Journal of Paleopathology 22, pp. 109-120. (10.1016/j.ijpp.2018.07.007)
- Skene, N. G. et al. 2018. Genetic identification of brain cell types underlying schizophrenia. Nature Genetics 50, pp. 825-833. (10.1038/s41588-018-0129-5)
- Pardinas, A. F. et al. 2018. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nature Genetics 50, pp. 381-389. (10.1038/s41588-018-0059-2)
- Gomes, C. et al. 2017. Phenotyping the ancient world: the physical appearance and ancestry of very degraded samples from a chalcolithic human remains. Forensic Science International: Genetics Supplement Series 6, pp. e484-e486. (10.1016/j.fsigss.2017.09.188)
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- Lopez, B., Lopez-Garcia, J. M., Costilla, S., Garcia- Vazquez, E., Dopico, E. and Pardinas, A. 2017. Treponemal disease in the Old World? Integrated paleopathological assessment of a 9th-11th century skeleton from North-Central Spain. Anthropological Science 125(2), pp. 101-114. (10.1537/ase.170515)
- Huelga-Suarez, G., Fernandez, S. D., Moldavan, M., Pardinas, A., Lopez, B. and Alonso, J. I. G. 2016. The quest for the Soldier's Rest: Combining anthropological and archaeochemical approaches to study social and occupational diversity in the Medieval graveyard of San Andres de Arroyo (Palencia, Spain). Anthropological Science 124(3), article number: 161005. (10.1537/ase.161005)
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Websites
- Allardyce, J. et al. 2017. Psychosis and the level of mood incongruence in Bipolar Disorder are related to genetic liability for Schizophrenia. [Online]. bioRxiv. Available at: http://dx.doi.org/10.1101/160119
- Pardinas, A. et al. 2016. Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. [Online]. bioRxiv. (10.1101/068593) Available at: http://dx.doi.org/10.1101/068593
Research
I led an Academy of Medical Sciences Springboard Award on "Pharmacogenomics of Antipsychotic Treatment and Response" (PATRON, 2020-2023), focused on the antipsychotic clozapine. Clozapine is the only drug licensed in the UK for treatment-resistant forms of schizophrenia. While it is known to improve the symptoms of many individuals, is also underprescribed and often discontinued early on the basis of poor efficacy or adverse side effects. With PATRON we sought to conduct basic research to understand why this happens, hopefully leading to evidence that will be used in the future to improve the effectiveness of clozapine. You can read about a representative PATRON publication here.
I am currently involved in further work related to clozapine and treatment resistance in psychiatric disorders within the EU-funded projects REALMENT (2021-2025) and PsychSTRATA (2022-2027).
Researchers can find open access data related to my projects in the Walters Group website.
Supervisions
Past projects
- Isabella Willcocks, PhD (2023).
- Siobhan Lock, MSc (2022).
- Carmen Alonso-Llamazares, PhD (2022). Co-directed with the University of Oviedo, Spain.
- Milly Roberts, MSc (2021). MSc in Bioinformatics Gold Award.
- Simona Zahova, PhD (2021).
Research themes
Specialisms
- Psychiatric Genetics
- Population Genetics
- Electronic Health Records
