Dr Elliott Rees
(e/fe)
PhD FHEA
Timau a rolau for Elliott Rees
Uwch Gymrawd Ymchwil
Trosolwyg
Nod fy ymchwil yw darganfod mwtaniadau prin sy'n cynyddu atebolrwydd i anhwylderau seiciatrig. Mae gennyf ddiddordeb arbennig mewn defnyddio data dilyniannu'r genhedlaeth nesaf i astudio amrywiadau prin sy'n gysylltiedig â sgitsoffrenia, a all arwain at adnabod genynnau risg penodol a'r mecanweithiau patholegol sy'n sail i'r cyflwr hwn. Yn 2020 dyfarnwyd Cymrodoriaeth Arweinwyr y Dyfodol UKRI i mi ddilyn trywydd ymchwil sy'n ymchwilio i weld a all y dadansoddiad cyfunol o wahanol ddosbarthiadau o amrywiad genetig cyffredin a phrin gynyddu pŵer ar gyfer darganfod genynnau, gwella modelau i haenu is-grwpiau o sgitsoffrenia sy'n ystyrlon yn fiolegol, a nodi ffactorau genetig amddiffynnol mewn unigolion sydd â risg uchel o sgitsoffrenia.
Cyhoeddiad
2026
- Fenner, E. et al. 2026. Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank. Molecular Psychiatry 31 , pp.5104-5113. (10.1038/s41380-026-03601-8)
- Chick, S. L. and Rees, E. 2026. Understanding the genetic risk of schizophrenia [Editorial]. Expert Review of Neurotherapeutics (10.1080/14737175.2026.2702634)
- Dennison, C. A. et al. 2026. The role of rare copy number variants in early‐onset depression. JCPP Advances e70128. (10.1002/jcv2.70128)
- Smart, S. E. et al. 2026. Genetics to Improve Outcomes in Schizophrenia (GENios): A within-case molecular genetic study protocol. PLoS ONE 21 (2) e0340584. (10.1371/journal.pone.0340584)
2025
- Edwards, A. et al. 2025. Large language model–supported identification of intellectual disabilities in clinical free-text summaries: mixed methods study. JMIR AI 4 e72256. (10.2196/72256)
- Rammos, A. et al., 2025. Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate. Human Molecular Genetics 34 (18), pp.1563-1574. (10.1093/hmg/ddaf115)
- Chick, S. L. et al. 2025. Whole-exome sequencing analysis identifies risk genes for schizophrenia. Nature Communications 16 (1) 7102. (10.1038/s41467-025-62429-y)
2024
- Tume, C. E. et al. 2024. Genetic implication of specific glutamatergic neurons of the prefrontal cortex in the pathophysiology of schizophrenia. Biological Psychiatry 4 (5) 100345. (10.1016/j.bpsgos.2024.100345)
- Legge, S. E. et al. 2024. Genetic and phenotypic features of Schizophrenia in the UK Biobank. JAMA Psychiatry 81 , pp.681-690. (10.1001/jamapsychiatry.2024.0200)
- 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)
- 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)
2023
- Owen, M. et al. 2023. Genomic findings in schizophrenia and their implications. Molecular Psychiatry 28 , pp.3638-3647. (10.1038/s41380-023-02293-8)
- Rammos, A. et al. 2023. Family-based analysis of the contribution of rare and common genetic variants to school performance in schizophrenia. Molecular Psychiatry 28 , pp.2081-2087. (10.1038/s41380-023-02013-2)
2022
- Wadon, M. et al. 2022. Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study. Journal of Neurology 269 , pp.6436-6451. (10.1007/s00415-022-11307-4)
- Clifton, N. et al. 2022. Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function. Human Molecular Genetics 31 (18), pp.3095-3106. (10.1093/hmg/ddac105)
- Bracher-Smith, M. et al. 2022. Machine learning for prediction of schizophrenia using genetic and demographic factors in the UK Biobank. Schizophrenia Research 246 , pp.156-164. (10.1016/j.schres.2022.06.006)
- Creeth, H. D. J. et al. 2022. Ultrarare coding variants and cognitive function in schizophrenia. JAMA Psychiatry 79 (10), pp.963-970. (10.1001/jamapsychiatry.2022.2289)
- McAllister, B. et al. 2022. Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nature Neuroscience 25 , pp.446-457. (10.1038/s41593-022-01033-5)
- Singh, T. et al., 2022. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature 604 , pp.509-516. (10.1038/s41586-022-04556-w)
- 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) 27. (10.1038/s41467-021-27601-0)
2021
- Rees, E. et al. 2021. Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. Nature Communications 12 5353. (10.1038/s41467-021-25532-4)
- 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)
- 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)
- Rees, E. and Kirov, G. 2021. Copy number variation and neuropsychiatric illness. Current Opinion in Genetics and Development 68 , pp.57-63. (10.1016/j.gde.2021.02.014)
- Caseras, X. et al. 2021. Effects of genomic copy number variants penetrant for schizophrenia on cortical thickness and surface area in healthy individuals: analysis of the UK Biobank. British Journal of Psychiatry 218 (2), pp.104-111. (10.1192/bjp.2020.139)
2020
- 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) e139. (10.1192/bjo.2020.42)
- 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)
- Martin, J. et al. 2020. A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder. Translational Psychiatry 10 135. (10.1038/s41398-020-0821-y)
- Warland, A. et al. 2020. Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank. Molecular Psychiatry 25 (4), pp.854-862. (10.1038/s41380-019-0355-y)
- Rees, E. and Owen, M. J. 2020. Translating insights from neuropsychiatric genetics and genomics for precision psychiatry. Genome Medicine 12 (1) 43. (10.1186/s13073-020-00734-5)
- Szatkiewicz, J. P. et al., 2020. Characterization of single gene copy number variants in schizophrenia. Biological Psychiatry 87 (8), pp.736-744. (10.1016/j.biopsych.2019.09.023)
- 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)
- Kendall, K. M. et al. 2019. Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank. British Journal of Psychiatry 214 (05), pp.297-304. (10.1192/bjp.2018.301)
- Kendall, K. M. et al. 2019. Association of rare copy number variants with risk of depression. JAMA Psychiatry 76 (8), pp.818-825. (10.1001/jamapsychiatry.2019.0566)
- 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)
- Vadgama, N. et al., 2019. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. European Journal of Human Genetics 27 (7), pp.1121-1133. (10.1038/s41431-019-0376-7)
- Drakesmith, M. et al. 2019. Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures. Translational Psychiatry 9 (1) 102. (10.1038/s41398-019-0440-7)
- Crawford, K. et al. 2019. Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank. Journal of Medical Genetics 56 , pp.131-138. (10.1136/jmedgenet-2018-105477)
2018
- Owen, D. et al. 2018. Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. BMC Genomics 19 (1) 867. (10.1186/s12864-018-5292-7)
- 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
- 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)
- Singh, T. et al., 2017. The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nature Genetics 49 , pp.1167-1173. (10.1038/ng.3903)
- Kendall, K. M. et al. 2017. Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK Biobank subjects. Biological Psychiatry 82 (2), pp.P103-110. (10.1016/j.biopsych.2016.08.014)
- Huang, A. Y. et al., 2017. Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette Syndrome. Neuron 94 (6), pp.1101-1111.e7. (10.1016/j.neuron.2017.06.010)
- Clifton, N. E. et al. 2017. Schizophrenia copy number variants and associative learning. Molecular Psychiatry 22 (2), pp.178-182. (10.1038/mp.2016.227)
2016
- 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)
- Tansey, K. E. et al. 2016. Common alleles contribute to schizophrenia in CNV carriers. Molecular Psychiatry 21 , pp.1085-1089. (10.1038/mp.2015.143)
- Pardinas, A. et al. 2016. Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. bioRxiv (10.1101/068593)
- Han, J. et al. 2016. Gender differences in CNV burden do not confound schizophrenia CNV associations. Scientific Reports 6 25986. (10.1038/srep25986)
- Isles, A. R. et al. 2016. Parental origin of interstitial duplications at 15q11.2-q13.3 in schizophrenia and neurodevelopmental disorders. PLoS Genetics 12 (5) e1005993. (10.1371/journal.pgen.1005993)
- Singh, T. et al., 2016. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nature Neuroscience 19 (4), pp.571-577. (10.1038/nn.4267)
- Fry, A. E. et al. 2016. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 17 , pp.-. 34. (10.1186/s12881-016-0294-2)
- Richards, A. et al. 2016. Exome arrays capture polygenic rare variant contributions to schizophrenia. Human Molecular Genetics 25 (5), pp.1001-1007. (10.1093/hmg/ddv620)
2015
- Tansey, K. E. et al. 2015. Common alleles contribute to schizophrenia in CNV carriers [Erratum]. Molecular Psychiatry 21 1153. (10.1038/mp.2015.170)
- Escott-Price, V. et al. 2015. No evidence for enrichment in schizophrenia for common allelic associations at imprinted loci. PLoS ONE 10 (12), pp.-. e0144172. (10.1371/journal.pone.0144172)
- Heyes, S. et al., 2015. Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders. Progress in Neurobiology 134 , pp.36-54. (10.1016/j.pneurobio.2015.09.002)
- Pocklington, A. et al. 2015. Novel findings from CNVs implicate inhibitory and excitatory signaling complexes in schizophrenia. Neuron 86 (5), pp.1203-1214. (10.1016/j.neuron.2015.04.022)
- Kirov, G. , Rees, E. and Walters, J. T. R. 2015. What a psychiatrist needs to know about copy number variants. BJPscyh Advances 21 (3), pp.157-163. (10.1192/apt.bp.113.012039)
- Green, E. K. et al., 2015. Copy number variation in bipolar disorder. Molecular Psychiatry 21 (1), pp.89-93. (10.1038/mp.2014.174)
- Rees, E. et al. 2015. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Translational Psychiatry 5 (7) e607. (10.1038/tp.2015.99)
- Rees, E. , O'Donovan, M. C. and Owen, M. J. 2015. Genetics of schizophrenia. Current Opinion in Behavioral Sciences 2 , pp.8-14. (10.1016/j.cobeha.2014.07.001)
2014
- Georgieva, L. et al. 2014. De novo CNVs in bipolar affective disorder and schizophrenia. Human Molecular Genetics 23 (24), pp.6677-6683. (10.1093/hmg/ddu379)
- Szatkiewicz, J. P. et al., 2014. Copy number variation in schizophrenia in Sweden. Molecular Psychiatry 19 (7), pp.762-773. (10.1038/mp.2014.40)
- Rees, E. et al. 2014. Authors' reply [Letter]. British Journal of Psychiatry 205 (1), pp.78. (10.1192/bjp.205.1.78)
- Morris, D. W. et al., 2014. An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis. Human Molecular Genetics 23 (12), pp.3316-3326. (10.1093/hmg/ddu025)
- Rees, E. et al. 2014. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Human Molecular Genetics 23 (6), pp.1669-1676. (10.1093/hmg/ddt540)
- Rees, E. et al. 2014. Analysis of copy number variations at 15 schizophrenia-associated loci. British Journal of Psychiatry 204 (2), pp.108-114. (10.1192/bjp.bp.113.131052)
- Fromer, M. et al., 2014. De novo mutations in schizophrenia implicate synaptic networks. Nature 506 , pp.179-184. (10.1038/nature12929)
2013
- Rees, E. et al. 2013. Evidence that duplications of 22q11.2 protect against schizophrenia. Molecular Psychiatry n/a (10.1038/mp.2013.156)
- Guha, S. et al., 2013. Implication of a rare deletion at distal 16p11.2 in schizophrenia. JAMA Psychiatry 70 (3), pp.253-260. (10.1001/2013.jamapsychiatry.71)
- Chapman, J. et al., 2013. A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk. Human Molecular Genetics 22 (4), pp.816-824. (10.1093/hmg/dds476)
- Kirov, G. et al. 2013. The penetrance of copy number variations for schizophrenia and developmental delay. Biological Psychiatry 75 (5), pp.378-385. (10.1016/j.biopsych.2013.07.022)
2012
- Kirov, G. et al. 2012. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Molecular Psychiatry 17 (2), pp.142-153. (10.1038/mp.2011.154)
- Rees, E. et al. 2012. De Novo mutation in schizophrenia. Schizophrenia Bulletin 38 (3), pp.377-381. (10.1093/schbul/sbs047)
2011
- Rees, E. et al. 2011. De novo rates and selection of schizophrenia-associated copy number variants. Biological Psychiatry 70 (12), pp.1109-1114. (10.1016/j.biopsych.2011.07.011)
Erthyglau
- Fenner, E. et al. 2026. Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank. Molecular Psychiatry 31 , pp.5104-5113. (10.1038/s41380-026-03601-8)
- Chick, S. L. and Rees, E. 2026. Understanding the genetic risk of schizophrenia [Editorial]. Expert Review of Neurotherapeutics (10.1080/14737175.2026.2702634)
- Dennison, C. A. et al. 2026. The role of rare copy number variants in early‐onset depression. JCPP Advances e70128. (10.1002/jcv2.70128)
- Smart, S. E. et al. 2026. Genetics to Improve Outcomes in Schizophrenia (GENios): A within-case molecular genetic study protocol. PLoS ONE 21 (2) e0340584. (10.1371/journal.pone.0340584)
- Edwards, A. et al. 2025. Large language model–supported identification of intellectual disabilities in clinical free-text summaries: mixed methods study. JMIR AI 4 e72256. (10.2196/72256)
- Rammos, A. et al., 2025. Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate. Human Molecular Genetics 34 (18), pp.1563-1574. (10.1093/hmg/ddaf115)
- Chick, S. L. et al. 2025. Whole-exome sequencing analysis identifies risk genes for schizophrenia. Nature Communications 16 (1) 7102. (10.1038/s41467-025-62429-y)
- Tume, C. E. et al. 2024. Genetic implication of specific glutamatergic neurons of the prefrontal cortex in the pathophysiology of schizophrenia. Biological Psychiatry 4 (5) 100345. (10.1016/j.bpsgos.2024.100345)
- Legge, S. E. et al. 2024. Genetic and phenotypic features of Schizophrenia in the UK Biobank. JAMA Psychiatry 81 , pp.681-690. (10.1001/jamapsychiatry.2024.0200)
- 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)
- 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)
- Owen, M. et al. 2023. Genomic findings in schizophrenia and their implications. Molecular Psychiatry 28 , pp.3638-3647. (10.1038/s41380-023-02293-8)
- Rammos, A. et al. 2023. Family-based analysis of the contribution of rare and common genetic variants to school performance in schizophrenia. Molecular Psychiatry 28 , pp.2081-2087. (10.1038/s41380-023-02013-2)
- Wadon, M. et al. 2022. Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study. Journal of Neurology 269 , pp.6436-6451. (10.1007/s00415-022-11307-4)
- Clifton, N. et al. 2022. Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function. Human Molecular Genetics 31 (18), pp.3095-3106. (10.1093/hmg/ddac105)
- Bracher-Smith, M. et al. 2022. Machine learning for prediction of schizophrenia using genetic and demographic factors in the UK Biobank. Schizophrenia Research 246 , pp.156-164. (10.1016/j.schres.2022.06.006)
- Creeth, H. D. J. et al. 2022. Ultrarare coding variants and cognitive function in schizophrenia. JAMA Psychiatry 79 (10), pp.963-970. (10.1001/jamapsychiatry.2022.2289)
- McAllister, B. et al. 2022. Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nature Neuroscience 25 , pp.446-457. (10.1038/s41593-022-01033-5)
- Singh, T. et al., 2022. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature 604 , pp.509-516. (10.1038/s41586-022-04556-w)
- 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) 27. (10.1038/s41467-021-27601-0)
- Rees, E. et al. 2021. Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. Nature Communications 12 5353. (10.1038/s41467-021-25532-4)
- 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)
- 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)
- Rees, E. and Kirov, G. 2021. Copy number variation and neuropsychiatric illness. Current Opinion in Genetics and Development 68 , pp.57-63. (10.1016/j.gde.2021.02.014)
- Caseras, X. et al. 2021. Effects of genomic copy number variants penetrant for schizophrenia on cortical thickness and surface area in healthy individuals: analysis of the UK Biobank. British Journal of Psychiatry 218 (2), pp.104-111. (10.1192/bjp.2020.139)
- 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) e139. (10.1192/bjo.2020.42)
- 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)
- Martin, J. et al. 2020. A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder. Translational Psychiatry 10 135. (10.1038/s41398-020-0821-y)
- Warland, A. et al. 2020. Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank. Molecular Psychiatry 25 (4), pp.854-862. (10.1038/s41380-019-0355-y)
- Rees, E. and Owen, M. J. 2020. Translating insights from neuropsychiatric genetics and genomics for precision psychiatry. Genome Medicine 12 (1) 43. (10.1186/s13073-020-00734-5)
- Szatkiewicz, J. P. et al., 2020. Characterization of single gene copy number variants in schizophrenia. Biological Psychiatry 87 (8), pp.736-744. (10.1016/j.biopsych.2019.09.023)
- 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)
- Kendall, K. M. et al. 2019. Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank. British Journal of Psychiatry 214 (05), pp.297-304. (10.1192/bjp.2018.301)
- Kendall, K. M. et al. 2019. Association of rare copy number variants with risk of depression. JAMA Psychiatry 76 (8), pp.818-825. (10.1001/jamapsychiatry.2019.0566)
- 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)
- Vadgama, N. et al., 2019. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. European Journal of Human Genetics 27 (7), pp.1121-1133. (10.1038/s41431-019-0376-7)
- Drakesmith, M. et al. 2019. Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures. Translational Psychiatry 9 (1) 102. (10.1038/s41398-019-0440-7)
- Crawford, K. et al. 2019. Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank. Journal of Medical Genetics 56 , pp.131-138. (10.1136/jmedgenet-2018-105477)
- Owen, D. et al. 2018. Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. BMC Genomics 19 (1) 867. (10.1186/s12864-018-5292-7)
- 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)
- 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)
- Singh, T. et al., 2017. The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nature Genetics 49 , pp.1167-1173. (10.1038/ng.3903)
- Kendall, K. M. et al. 2017. Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK Biobank subjects. Biological Psychiatry 82 (2), pp.P103-110. (10.1016/j.biopsych.2016.08.014)
- Huang, A. Y. et al., 2017. Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette Syndrome. Neuron 94 (6), pp.1101-1111.e7. (10.1016/j.neuron.2017.06.010)
- Clifton, N. E. et al. 2017. Schizophrenia copy number variants and associative learning. Molecular Psychiatry 22 (2), pp.178-182. (10.1038/mp.2016.227)
- 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)
- Tansey, K. E. et al. 2016. Common alleles contribute to schizophrenia in CNV carriers. Molecular Psychiatry 21 , pp.1085-1089. (10.1038/mp.2015.143)
- Pardinas, A. et al. 2016. Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. bioRxiv (10.1101/068593)
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