Professor Peter Holmans
Professor, Division of Psychological Medicine and Clinical Neurosciences
Overview
Development of novel statistical methodology for genome-wide linkage and association analysis of complex genetic traits. Application of these methods to large datasets collected by members of the IRG and external collaborators.
Publication
2024
- Tume, C. E., Chick, S. L., Holmans, P. A., Rees, E., O'Donovan, M. C., Cameron, D. and Bray, N. J. 2024. Genetic implication of specific glutamatergic neurons of the prefrontal cortex in the pathophysiology of schizophrenia. Biological Psychiatry 4(5), article number: 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)
- Trastulla, L. et al. 2024. Distinct genetic liability profiles define clinically relevant patient strata across common diseases. Nature Communications 15, article number: 5534. (10.1038/s41467-024-49338-2)
- Uzochukwu, E. C. et al. 2024. Modelling disease progression of Multiple Sclerosis in a South Wales cohort. Neuroepidemiology 58(3), pp. 218-226. (10.1159/000536427)
- Hall, J. H. et al. 2024. Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs). Translational Psychiatry 14(1), article number: 259. (10.1038/s41398-024-02975-z)
- Kim, K. et al. 2024. Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease. Proceedings of the National Academy of Sciences 121(16), article number: e2322924121. (10.1073/pnas.2322924121)
- Hess, J. L. et al. 2024. A polygenic resilience score moderates the genetic risk for schizophrenia: Replication in 18,090 cases and 28,114 controls from the Psychiatric Genomics Consortium. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 195(2), article number: e32957. (10.1002/ajmg.b.32957)
- Kreft, K. L. et al. 2024. Relevance of multiple sclerosis severity genotype in predicting disease course: A real-world cohort. Annals of Neurology 95(3), pp. 459-470. (10.1002/ana.26831)
- Hong, E. P. et al. 2024. Modification of Huntington's disease by short tandem repeats. Brain Communications 6(2), article number: fcae016. (10.1093/braincomms/fcae016)
- Cardno, A. G. et al. 2024. Associations of psychotic symptom dimensions with clinical and developmental variables in twin and general clinical samples.. The British Journal of Psychiatry, pp. 1-8. (10.1192/bjp.2024.129)
2023
- Clifton, N., Schulmann, A., Schizophrenia Working Group of the Psychiatric Genomics Consorti, ., Holmans, P., O'Donovan, M. and Vawter, M. 2023. The relationship between case-control differential gene expression from brain tissue and genetic associations in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 192(5-6), pp. 85-92. (10.1002/ajmg.b.32931)
- Harrison, J. R. et al. 2023. Pathway-specific polygenic scores for Alzheimer's disease are associated with changes in brain structure in younger and older adults. Brain Communications 5(5), article number: fcad229. (10.1093/braincomms/fcad229)
- Le Guen, Y. et al. 2023. Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes. Proceedings of the National Academy of Sciences 120(36), article number: e2302720120. (10.1073/pnas.2302720120)
- Millrine, D. et al. 2023. Th1 cells alter the inflammatory signature of IL-6 by channeling STAT transcription factors to Alu-like retroelements. The Journal of Immunology 211(2), pp. 274-286. (10.4049/jimmunol.2300114)
- Allardyce, J. et al. 2023. Specificity of polygenic signatures across symptom dimensions in bipolar disorder: an analysis of UK Bipolar Disorder Research Network data. The Lancet Psychiatry 10(8), pp. 623-631. (10.1016/S2215-0366(23)00186-4)
- Markoulidakis, A., Taiyari, K., Holmans, P., Pallmann, P., Busse, M., Godley, M. D. and Griffin, B. A. 2023. A tutorial comparing different covariate balancing methods with an application evaluating the causal effects of substance use treatment programs for adolescents. Health Services and Outcomes Research Methodology 23, pp. 115-148. (10.1007/s10742-022-00280-0)
- Rammos, A., Kirov, G., Hubbard, L., Walters, J., Holmans, P., Owen, M. and Rees, E. 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)
- 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)
2022
- Crawford, K. et al. 2022. Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing. Molecular Psychiatry (10.1038/s41380-022-01926-8)
- Mirza-Davies, A. et al. 2022. The impact of genetic risk for Alzheimer’s disease on the structural brain networks of young adults. Frontiers in Neuroscience 16, article number: 987677. (10.3389/fnins.2022.987677)
- 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)
- Markoulidakis, A., Holmans, P., Pallmann, P., Busse, M. and Griffin, B. A. 2022. Covariate balancing & weighting web app (COBWEB): an online tool simplifying robust causal inference in observational studies. Journal of Neurology, Neurosurgery and Psychiatry 93(S1), article number: A44. (10.1136/jnnp-2022-ehdn.114)
- Lobanov, S. et al. 2022. Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1. npj Genomic Medicine 7, article number: 53. (10.1038/s41525-022-00317-w)
- 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)
- Croft, J. et al. 2022. A computational analysis of abnormal belief-updating processes and their association with psychotic experiences and childhood trauma in a UK birth cohort. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging 7(7), pp. 725-734. (10.1016/j.bpsc.2021.12.007)
- Hou, J. et al. 2022. Polygenic resilience scores capture protective genetic effects for Alzheimer’s disease. Translational Psychiatry 12(1), article number: 296. (10.1038/s41398-022-02055-0)
- Crawford, K. et al. 2022. Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways. [Online]. medRxiv: Cold Spring Harbor Laboratory. (10.1101/2022.06.29.22276952) Available at: https://doi.org/10.1101/2022.06.29.22276952
- Hwang, Y. et al. 2022. Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation. Scientific Reports 12, article number: 10419. (10.1038/s41598-022-14183-0)
- Lee, J. et al. 2022. Genetic modifiers of Huntington disease differentially influence motor and cognitive domains. American Journal of Human Genetics 109(5), pp. 885-899. (10.1016/j.ajhg.2022.03.004)
- 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)
- Bellenguez, C. et al. 2022. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics 54(4), pp. 412-436. (10.1038/s41588-022-01024-z)
- 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)
- Jones, H. J. et al. 2022. Examining pathways between genetic liability for schizophrenia and patterns of tobacco and cannabis use in adolescence. Psychological Medicine 52(1), pp. 132-139. (10.1017/S0033291720001798)
- 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
- Markoulidakis, A., Holmans, P., Pallmann, P., Busse, M. and Griffin, B. A. 2021. CoBWeb: a user-friendly web application to estimate causal treatment effects from observational data using multiple algorithms. [Online]. Cornell University. Available at: https://arxiv.org/abs/2112.05035
- Dimitriadis, S. I. et al. 2021. Genetic risk for schizophrenia is associated with altered visually-induced gamma band activity: evidence from a population sample stratified polygenic risk. Translational Psychiatry 11, article number: 592. (10.1038/s41398-021-01678-z)
- Dennison, C. et al. 2021. Risk factors, clinical features, and polygenic risk scores in schizophrenia and schizoaffective disorder depressive-type. Schizophrenia Bulletin 47(5), pp. 1375-1384. (10.1093/schbul/sbab036)
- 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)
- Rees, E. et al. 2021. Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. Nature Communications 12, article number: 5353. (10.1038/s41467-021-25532-4)
- Markoulidakis, A., Taiyari, K., Holmans, P., Pallmann, P., Busse, M. and Griffin, B. A. 2021. Examining the effect of exercise on the progression and severity of Huntington's disease using different covariate balancing methods and simulated data derived from the PACE-HD study. Presented at: Huntington Study Group 2020: HD in Focus, 29-31 October 2020, Vol. 92. Vol. 1. BMJ Publishing Group, (10.1136/jnnp-2021-EHDN.74)
- 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)
- Jones, R. E., Andrews, R., Holmans, P., Hill, M. and Taylor, P. R. 2021. Modest changes in Spi1 dosage reveal the potential for altered microglial function as seen in Alzheimer's disease. Scientific Reports 11(1), article number: 14935. (10.1038/s41598-021-94324-z)
- 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)
- 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)
- de Rojas, I. et al. 2021. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications 12(1), article number: 3417. (10.1038/s41467-021-22491-8)
- Harwood, J., Leonenko, G., Sims, R., Escott-Price, V., Williams, J. and Holmans, P. 2021. Defining functional variants associated with Alzheimer's disease in the induced immune response. Brain Communications 3(2), article number: fcab083. (10.1093/braincomms/fcab083)
- Chen, Z. et al. 2021. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications 12(1), article number: 2076. (10.1038/s41467-021-22262-5)
- Hess, J. L. et al. 2021. A polygenic resilience score moderates the genetic risk for schizophrenia. Molecular Psychiatry 26(3), pp. 800-815. (10.1038/s41380-019-0463-8)
- McAllister, B. et al. 2021. Timing and impact of psychiatric, cognitive, and motor abnormalities in Huntington disease. Neurology 96(19), pp. e2395-e2406. (10.1212/WNL.0000000000011893)
- Hong, E. P. et al. 2021. Huntington's disease pathogenesis: two sequential components. Journal of Huntington's Disease 10(1), pp. 35-51. (10.3233/JHD-200427)
- Donaldson, J., Powell, S., Rickards, N., Holmans, P. and Jones, L. 2021. What is the pathogenic CAG expansion length in Huntington’s disease?. Journal of Huntington's Disease 10(1), pp. 175-202. (10.3233/JHD-200445)
- Markoulidakis, A., Holmans, P., Pallmann, P., Busse, M. and Griffin, B. A. 2021. How balance and sample size impact bias in the estimation of causal treatment effects: a simulation study. [Online]. Cornell University. Available at: https://arxiv.org/abs/2107.09009
- Katzourou, I. et al. 2021. Cognitive decline in Alzheimer’s disease is not associated with APOE. Journal of Alzheimer's Disease 84(1), pp. 141-149. (10.3233/jad-210685)
- Hong, E. P. et al. 2021. Association analysis of chromosome X to identify genetic modifiers of Huntington's disease. Journal of Huntington's Disease 10(3), pp. 367-375. (10.3233/JHD-210485)
2020
- Holmans, P. 2020. Using genetics to increase specificity of outcome prediction in psychiatric disorders: prospects for progression. American Journal of Psychiatry 177(10), pp. 884-887. (10.1176/appi.ajp.2020.20081181)
- Akingbuwa, W. A. et al. 2020. Genetic associations between childhood psychopathology and adult depression and associated traits in 42 998 individuals. JAMA Psychiatry 77(7), pp. 715-728. (10.1001/jamapsychiatry.2020.0527)
- Kim, K. et al. 2020. Genetic and functional analyses point to FAN1 as the source of multiple Huntington Disease modifier effects. American Journal of Human Genetics 107(1), pp. 96-110. (10.1016/j.ajhg.2020.05.012)
- Ellis, N. et al. 2020. Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease. Biological Psychiatry 87(9), pp. 857-865. (10.1016/j.biopsych.2019.12.010)
- Flower, M., Lomeikaite, V., Holmans, P., Jones, L., Tabrizi, S. J. and Monckton, D. G. 2020. Reply: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia. Brain 143(4), article number: e26. (10.1093/brain/awaa044)
- 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)
- Sullivan, S. A. et al. 2020. A population-based cohort study examining the incidence and impact of psychotic experiences from childhood to adulthood, and prediction of psychotic disorder. American Journal of Psychiatry 177(4), pp. 308-317. (10.1176/appi.ajp.2019.19060654)
- Richards, A. et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46(2), pp. -. (10.1093/schbul/sbz061)
- 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)
- McAllister, B. et al. 2020. The onset and prevalence of motor and psychiatric symptoms in Huntington’s disease. [Online]. bioRxiv. (10.1101/2020.05.26.116798)
- Markoulidakis, A., Taiyari, K., Holmans, P., Pallmann, P., Busse-Morris, M. and Griffin, B. A. 2020. A tutorial comparing different covariate balancing methods with an application evaluating the causal effect of exercise on the progression of Huntington’s disease. [Online]. arXiv. Available at: https://arxiv.org/abs/2010.09563
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)
- Lam, M. et al. 2019. Comparative genetic architectures of schizophrenia in East Asian and European populations. Nature Genetics 51, pp. 1670-1678. (10.1038/s41588-019-0512-x)
- Lee, P. H. et al. 2019. Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders. Cell 179(7), pp. 1469-1482.e11. (10.1016/j.cell.2019.11.020)
- Ciosi, M. et al. 2019. A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes. EBioMedicine 48, pp. 568-580. (10.1016/j.ebiom.2019.09.020)
- 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)
- Lee, J. et al. 2019. CAG repeat not polyglutamine length determines timing of Huntington’s disease onset. Cell 178(4), pp. 887-099.e14. (10.1016/j.cell.2019.06.036)
- Baker, E. et al. 2019. Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease. PLoS ONE 14(7), article number: e0218111. (10.1371/journal.pone.0218111)
- Flower, M. et al. 2019. MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1. Brain 142(7), pp. 1876-1886. (10.1093/brain/awz115)
- Chawner, S. J. R. A. et al. 2019. Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study. Lancet Psychiatry 6(6), pp. 493 - 505. (10.1016/S2215-0366(19)30123-3)
- Stahl, E. A. et al. 2019. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nature Genetics 51, pp. 793-803. (10.1038/s41588-019-0397-8)
- Gorman, K. M. et al. 2019. Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia. American Journal of Human Genetics 104(5), pp. 948-956. (10.1016/j.ajhg.2019.03.005)
- 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)
- Lancaster, T. M. et al. 2019. Structural and functional neuroimaging of polygenic risk for schizophrenia: a recall-by-genotype-based approach. Schizophrenia Bulletin 45(2), pp. 405-414. (10.1093/schbul/sby037)
- Kunkle, B. W. et al. 2019. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics 51(3), pp. 414-430. (10.1038/s41588-019-0358-2)
- Chawner, S., Owen, M. J., Holmans, P., Raymond, L., Skuse, D., Hall, J. and van den Bree, M. 2019. Genotype-phenotype relationships in children with copy number variants associated with high neuropsychiatric risk: Findings from the Intellectual Disability & Mental Health: Assessing the Genomic Impact on Neurodevelopment (IMAGINE-ID) study.. [Online]. BioRxiv. (10.1101/535708) Available at: https://doi.org/10.1101/535708
- Goold, R. et al. 2019. FAN1 modifies Huntington's disease progression by stabilising the expanded HTT CAG repeat. Human Molecular Genetics 28(4), pp. 650-661., article number: ddy375. (10.1093/hmg/ddy375)
- Clifton, N. E. et al. 2019. Dynamic expression of genes associated with schizophrenia and bipolar disorder across development. Translational Psychiatry 9, article number: 74. (10.1038/s41398-019-0405-x)
- Vivian-Griffiths, T. et al. 2019. Predictive modeling of schizophrenia from genomic data: Comparison of polygenic risk score with kernel support vector machines approach. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 180(1), pp. 80-85. (10.1002/ajmg.b.32705)
2018
- Beltrami, C. et al. 2018. Association of elevated urinary miR-126, miR-155, and miR-29b with diabetic kidney disease. American Journal of Pathology 188(9), pp. 1982-1992. (10.1016/j.ajpath.2018.06.006)
- Jones, H. J. et al. 2018. Investigating the genetic architecture of general and specific psychopathology in adolescence. Translational Psychiatry 8(1), article number: 145. (10.1038/s41398-018-0204-9)
- Ahmad, S. et al. 2018. Disentangling the biological pathways involved in early features of Alzheimer's disease in the Rotterdam Study. Alzheimer's and Dementia 14(7), pp. 848-857. (10.1016/j.jalz.2018.01.005)
- McNulty, P. et al. 2018. Reduced cancer incidence in Huntington's disease: analysis in the Registry study. Journal of Huntington's Disease 7(3), pp. 209-222. (10.3233/JHD-170263)
- Baker, E., Schmidt, K. M., Sims, R., O'Donovan, M. C., Williams, J., Holmans, P. and Escott-Price, V. 2018. POLARIS: polygenic LD-adjusted risk score approach for set-based analysis of GWAS data. Genetic Epidemiology 42(4), pp. 366-377. (10.1002/gepi.22117)
- Anttila, V. et al. 2018. Analysis of shared heritability in common disorders of the brain. Science 360(6395), article number: eaap8757. (10.1126/science.aap8757)
- Martin, J. et al. 2018. A genetic investigation of sex bias in the prevalence of attention-deficit/hyperactivity disorder. Biological Psychiatry 83(12), pp. 1044-1053. (10.1016/j.biopsych.2017.11.026)
- Ruderfer, D. M. et al. 2018. Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes. Cell 173(7), pp. 1705-1715.e16. (10.1016/j.cell.2018.05.046)
- Holmans, P. and Stone, T. 2018. Using genomic data to find disease-modifying loci in Huntington's Disease (HD). In: Precious, S. V., Rosser, A. E. and Dunnett, S. eds. Huntington’s Disease., Vol. 1780. Methods in Molecular Biology Humana Press, pp. 443-461., (10.1007/978-1-4939-7825-0_20)
- Chao, M. J. et al. 2018. Population-specific genetic modification of Huntington's disease in Venezuela. PLoS Genetics 14(5), article number: e1007274. (10.1371/journal.pgen.1007274)
- 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)
- McColgan, P. et al. 2018. Brain regions showing white matter loss in Huntington's Disease are enriched for synaptic and metabolic genes. Biological Psychiatry 83(5), pp. 456-465. (10.1016/j.biopsych.2017.10.019)
- Allardyce, J. et al. 2018. Association between schizophrenia-related polygenic liability and the occurrence and level of mood-incongruent psychotic symptoms in bipolar disorder. JAMA Psychiatry 75(1), pp. 28-35. (10.1001/jamapsychiatry.2017.3485)
2017
- Leonenko, G. et al. 2017. Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 174(7), pp. 724-731. (10.1002/ajmg.b.32560)
- 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)
- Holmans, P. A., Massey, T. H. and Jones, L. 2017. Genetic modifiers of Mendelian disease: Huntington's disease and the trinucleotide repeat disorders. Human Molecular Genetics 26(R2), pp. R83-R90. (10.1093/hmg/ddx261)
- Lee, J. et al. 2017. A modifier of Huntington's disease onset at the MLH1 locus. Human Molecular Genetics 26(19), pp. 3859-3867. (10.1093/hmg/ddx286)
- Sims, R. et al. 2017. Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics 49, pp. 1373-1384. (10.1038/ng.3916)
- 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)
- Chao, M. J. et al. 2017. Haplotype-based stratification of Huntington's disease. European Journal of Human Genetics 25, pp. 1202-1209. (10.1038/ejhg.2017.125)
- Phillips, T. J. et al. 2017. Treating the placenta to prevent adverse effects of gestational hypoxia on fetal brain development. Scientific Reports 7, pp. -., article number: 9079. (10.1038/s41598-017-06300-1)
- 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
- Weiner, D. J. et al. 2017. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nature Genetics 49(7), pp. 978-985. (10.1038/ng.3863)
- Hendricks, A. E. et al. 2017. Rare variant analysis of human and rodent obesity genes in individuals with severe childhood obesity. Scientific Reports 7, article number: 4394. (10.1038/s41598-017-03054-8)
- Witt, S. H. et al. 2017. Genome-wide association study of borderline personality disorder reveals genetic overlap with the bipolar disorder, schizophrenia and major depression. Translational Psychiatry 7, article number: e1155.
- The Autism Spectrum Disorders Working Group of The Psychiatric G, ., Anney, R. J. L. and Holmans, P. 2017. Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Molecular Autism 8, article number: 21. (10.1186/s13229-017-0137-9)
- Hensman Moss, D. J. et al. 2017. Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease. Scientific Reports 7, pp. -., article number: 44849. (10.1038/srep44849)
- McLaughlin, R. L. et al. 2017. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications 8, article number: 14774. (10.1038/ncomms14774)
- Bowles, K. R., Stone, T. C., Holmans, P. A., Allen, N. D., Dunnett, S. B. and Jones, L. 2017. SMAD transcription factors are altered in cell models of HD and regulate HTT expression. Cellular Signalling 31, pp. 1-14. (10.1016/j.cellsig.2016.12.005)
- Marshall, C. R. et al. 2017. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics 49, pp. 27-35. (10.1038/ng.3725)
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)
- Thapar, A. et al. 2016. Psychiatric gene discoveries shape evidence on ADHD's biology. Molecular Psychiatry 21, pp. 1202-1207. (10.1038/mp.2015.163)
- Mooney, M. A. et al. 2016. Pathway analysis in attention deficit hyperactivity disorder: an ensemble approach. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 171(6), pp. 815-826. (10.1002/ajmg.b.32446)
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2013
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2009
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2008
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2007
- Glaser, B., Nikolov, I., Chubb, D., Hamshere, M. L., Segurado, R., Escott-Price, V. and Holmans, P. A. 2007. Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests [Conference Proceedings]. BMC Proceedings 1(S1), pp. S54-S54.
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- Langley, K., Holmans, P. A., van den Bree, M. B. and Thapar, A. 2007. Effects of low birth weight, maternal smoking in pregnancy and social class on the phenotypic manifestation of Attention Deficit Hyperactivity Disorder and associated antisocial behaviour: investigation in a clinical sample. BMC Psychiatry 7(1), pp. 26-26. (10.1186/1471-244X-7-26)
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2006
- Bray, N. J. et al. 2006. Cis- and trans-acting loci influence expression of DTNBP1, a susceptibility gene for schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141B(7), pp. 723-724.
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2005
- Hamshere, M. L., MacGregor, S., Escott-Price, V., Nikolov, I. N. and Holmans, P. A. 2005. Covariate linkage analysis of GAW14 simulated data incorporating subclinical phenotype, sex, population, parent-of-origin, and interaction. BMC Genetics 6(1), pp. S45. (10.1186/1471-2156-6-S1-S45)
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2004
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2003
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2002
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2001
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2000
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1999
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1998
- Holmans, P. A. 1998. Affected sib-pair methods for detecting linkage to dichotomous traits: review of the methodology. Human biology 70(6), pp. 1025-1040.
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- Hateboer, N., Lazarou, L., Holmans, P. A., Williams, A. J. and Ravine, D. 1998. Inter-family variability of phenotype in autosomal dominant polycystic kidney disease type 1. European Journal of Human Genetics 6(1), pp. 71-71.
- Murphy, K. C., Williams, N. M., Cardno, A. G., Jones, L. A., Holmans, P. A., McGuffin, P. and Owen, M. J. 1998. A linkage study of chromosome 22q in SIB-pairs with schizophrenia. Schizophrenia Research 29(1-2), pp. 131-132. (10.1016/S0920-9964(97)88632-X)
- Spurlock, G. et al. 1998. A family based association study of T102C polymorphism in 5HT2A and schizophrenia plus identification of new polymorphisms in the promoter. Molecular Psychiatry 3(1), pp. 42-49. (10.1038/sj.mp.4000342)
1997
- Bandmann, O., Vaughan, J., Holmans, P. A., Marsden, C. D. and Wood, N. W. 1997. Association of slow acetylator genotype for N-acetyltransferase 2 with familial Parkinson's disease. The Lancet 350(9085), pp. 1136-1139. (10.1016/S0140-6736(97)03495-8)
- Hateboer, N. et al. 1997. PKD2: The phenotype defined. Kidney International 52(4), pp. 1122-1122.
- Baboolal, K., Ravine, D., Daniels, J., Williams, N. M., Holmans, P. A., Coles, G. A. and Williams, J. D. 1997. Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease. Kidney International 52(3), pp. 607-613. (10.1038/ki.1997.373)
- Hateboer, N. et al. 1997. Phenotype PKD2 vs. PKD1; results from the European concerted action.. Journal of the American Society of Nephrology 8, pp. A1722-A1722.
- Rees, M. et al. 1997. Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT). Molecular Psychiatry 2(5), pp. 398-402. (10.1038/sj.mp.4000256)
- Owen, M. J., Holmans, P. A. and McGuffin, P. 1997. Association studies in psychiatric genetics. Molecular Psychiatry 2(4), pp. 270-273. (10.1038/sj.mp.4000292)
- Daniels, J. K. et al. 1997. Linkage study of chromosome 6p in sib-pairs with schizophrenia. American Journal of Medical Genetics 74(3), pp. 319-323. (10.1002/(SICI)1096-8628(19970531)74:3<319::AID-AJMG14>3.0.CO;2-R)
- Holmans, P. A. and Craddock, N. J. 1997. Efficient strategies for genome scanning using maximum-likelihood affected-sib-pair analysis. American Journal of Human Genetics 60(3), pp. 657-666.
1996
- Levinson, D. F. et al. 1996. Additional support for schizophrenia linkage on chromosomes 6 and 8: a multicenter study. Schizophrenia Linkage Collaborative Group for Chromosomes 3, 6 and 8. American Journal of Medical Genetics 67(6), pp. 580-594. (10.1002/(SICI)1096-8628(19961122)67:6<580::AID-AJMG11>3.0.CO;2-P)
- Kehoe, P. et al. 1996. Association between a PS-1 intronic polymorphism and late onset Alzheimer's disease. NeuroReport 7(13), pp. 2155-2158. (10.1097/00001756-199609020-00019)
- Asherson, P. et al. 1996. Linkage, association and mutational analysis of the dopamine D3 receptor gene in schizophrenia. Molecular Psychiatry 1(2), pp. 125-132.
- Craddock, N. J., Daniels, J., Holmans, P. A., Williams, N. M. and Owen, M. J. 1996. Increasing the efficiency of genomic searches for linkage in complex disorders by DNA pooling of affected sib-pairs. Molecular Psychiatry 1(1), pp. 59-64.
- Gill, M. et al. 1996. A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22).. American Journal of Medical Genetics 67(1), pp. 40-45. (10.1002/(SICI)1096-8628(19960216)67:1<40::AID-AJMG6>3.0.CO;2-W)
- Cardno, A., Holmans, P. A., Harvey, I., Williams, M. B., Owen, M. J. and McGuffin, P. 1996. Factor-derived subsyndromes of schizophrenia and familial morbid risks. Schizophrenia Research 18(2-3), pp. IVA2-IVA2.
1995
- Roberts, A. G. et al. 1995. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. Human Molecular Genetics 4(12), pp. 2387-2390. (10.1093/hmg/4.12.2387)
- Holmans, P. A. and Clayton, D. 1995. Efficiency of typing unaffected relatives in an affected-sib-pair linkage study with single-locus and multiple tightly linked markers. American Journal of Human Genetics 57(5), pp. 1221-1232.
- Wood, N. W., Sawcer, S. J., Kellar-Wood, H. F., Holmans, P. A., Clayton, D., Robertson, N. and Compston, D. A. 1995. The T-cell receptor beta locus and susceptibility to multiple sclerosis. Neurology 45(10), pp. 1859-1863. (10.1212/WNL.45.10.1859)
- Wood, N. W., Sawcer, S. J., Kellar-Wood, H. F., Holmans, P. A., Clayton, D., Robertson, N. and Compston, D. A. 1995. Susceptibility to multiple sclerosis and the immunoglobulin heavy chain variable region. Journal of Neurology 242(10), pp. 677-682. (10.1007/BF00866919)
- Kellar-Wood, H. F., Wood, N. W., Holmans, P. A., Clayton, D., Robertson, N. and Compston, D. A. 1995. Multiple sclerosis and the HLA-D region: linkage and association studies. Journal of Neuroimmunology 58(2), pp. 183-190. (10.1016/0165-5728(95)00015-T)
- Holmans, P. A., McGuffin, P. and Clayton, D. 1995. Genome scan for association and linkage. Genetic Epidemiology 12(6), pp. 613-618. (10.1002/gepi.1370120615)
- Robertson, N., Wood, N., Holmans, P. A., Kellar-Wood, H. F., Sawcer, S. and Wood, N. W. 1995. Strategies for the identification of susceptibility genes in multiple sclerosis [Editorial]. The International Ms Journal 2, pp. 19-28.
1994
- Wood, N. W., Holmans, P. A., Clayton, D., Robertson, N. P. and Compston, D. A. 1994. No linkage or association between multiple sclerosis and the myelin basic protein gene in affected sibling pairs. Journal of Neurology, Neurosurgery & Psychiatry 57(10), pp. 1191-1194. (10.1136/jnnp.57.10.1191)
- Eoli, M., Wood, N., Kellar-Wood, H., Holmans, P. A., Clayton, D. and Compston, D. 1994. No linkage between multiple sclerosis and the T cell receptor alpha chain locus. Journal of the Neurological Sciences 124(1), pp. 32. (10.1016/0022-510X(94)90007-8)
1993
- Holmans, P. A. 1993. Asymptotic properties of affected-sib-pair linkage analysis. American journal of human genetics 52(2), pp. 362-374.
Articles
- Tume, C. E., Chick, S. L., Holmans, P. A., Rees, E., O'Donovan, M. C., Cameron, D. and Bray, N. J. 2024. Genetic implication of specific glutamatergic neurons of the prefrontal cortex in the pathophysiology of schizophrenia. Biological Psychiatry 4(5), article number: 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)
- Trastulla, L. et al. 2024. Distinct genetic liability profiles define clinically relevant patient strata across common diseases. Nature Communications 15, article number: 5534. (10.1038/s41467-024-49338-2)
- Uzochukwu, E. C. et al. 2024. Modelling disease progression of Multiple Sclerosis in a South Wales cohort. Neuroepidemiology 58(3), pp. 218-226. (10.1159/000536427)
- Hall, J. H. et al. 2024. Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs). Translational Psychiatry 14(1), article number: 259. (10.1038/s41398-024-02975-z)
- Kim, K. et al. 2024. Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease. Proceedings of the National Academy of Sciences 121(16), article number: e2322924121. (10.1073/pnas.2322924121)
- Hess, J. L. et al. 2024. A polygenic resilience score moderates the genetic risk for schizophrenia: Replication in 18,090 cases and 28,114 controls from the Psychiatric Genomics Consortium. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 195(2), article number: e32957. (10.1002/ajmg.b.32957)
- Kreft, K. L. et al. 2024. Relevance of multiple sclerosis severity genotype in predicting disease course: A real-world cohort. Annals of Neurology 95(3), pp. 459-470. (10.1002/ana.26831)
- Hong, E. P. et al. 2024. Modification of Huntington's disease by short tandem repeats. Brain Communications 6(2), article number: fcae016. (10.1093/braincomms/fcae016)
- Cardno, A. G. et al. 2024. Associations of psychotic symptom dimensions with clinical and developmental variables in twin and general clinical samples.. The British Journal of Psychiatry, pp. 1-8. (10.1192/bjp.2024.129)
- Clifton, N., Schulmann, A., Schizophrenia Working Group of the Psychiatric Genomics Consorti, ., Holmans, P., O'Donovan, M. and Vawter, M. 2023. The relationship between case-control differential gene expression from brain tissue and genetic associations in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 192(5-6), pp. 85-92. (10.1002/ajmg.b.32931)
- Harrison, J. R. et al. 2023. Pathway-specific polygenic scores for Alzheimer's disease are associated with changes in brain structure in younger and older adults. Brain Communications 5(5), article number: fcad229. (10.1093/braincomms/fcad229)
- Le Guen, Y. et al. 2023. Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes. Proceedings of the National Academy of Sciences 120(36), article number: e2302720120. (10.1073/pnas.2302720120)
- Millrine, D. et al. 2023. Th1 cells alter the inflammatory signature of IL-6 by channeling STAT transcription factors to Alu-like retroelements. The Journal of Immunology 211(2), pp. 274-286. (10.4049/jimmunol.2300114)
- Allardyce, J. et al. 2023. Specificity of polygenic signatures across symptom dimensions in bipolar disorder: an analysis of UK Bipolar Disorder Research Network data. The Lancet Psychiatry 10(8), pp. 623-631. (10.1016/S2215-0366(23)00186-4)
- Markoulidakis, A., Taiyari, K., Holmans, P., Pallmann, P., Busse, M., Godley, M. D. and Griffin, B. A. 2023. A tutorial comparing different covariate balancing methods with an application evaluating the causal effects of substance use treatment programs for adolescents. Health Services and Outcomes Research Methodology 23, pp. 115-148. (10.1007/s10742-022-00280-0)
- Rammos, A., Kirov, G., Hubbard, L., Walters, J., Holmans, P., Owen, M. and Rees, E. 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)
- 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)
- Crawford, K. et al. 2022. Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing. Molecular Psychiatry (10.1038/s41380-022-01926-8)
- Mirza-Davies, A. et al. 2022. The impact of genetic risk for Alzheimer’s disease on the structural brain networks of young adults. Frontiers in Neuroscience 16, article number: 987677. (10.3389/fnins.2022.987677)
- 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)
- Markoulidakis, A., Holmans, P., Pallmann, P., Busse, M. and Griffin, B. A. 2022. Covariate balancing & weighting web app (COBWEB): an online tool simplifying robust causal inference in observational studies. Journal of Neurology, Neurosurgery and Psychiatry 93(S1), article number: A44. (10.1136/jnnp-2022-ehdn.114)
- Lobanov, S. et al. 2022. Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1. npj Genomic Medicine 7, article number: 53. (10.1038/s41525-022-00317-w)
- 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)
- Croft, J. et al. 2022. A computational analysis of abnormal belief-updating processes and their association with psychotic experiences and childhood trauma in a UK birth cohort. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging 7(7), pp. 725-734. (10.1016/j.bpsc.2021.12.007)
- Hou, J. et al. 2022. Polygenic resilience scores capture protective genetic effects for Alzheimer’s disease. Translational Psychiatry 12(1), article number: 296. (10.1038/s41398-022-02055-0)
- Hwang, Y. et al. 2022. Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation. Scientific Reports 12, article number: 10419. (10.1038/s41598-022-14183-0)
- Lee, J. et al. 2022. Genetic modifiers of Huntington disease differentially influence motor and cognitive domains. American Journal of Human Genetics 109(5), pp. 885-899. (10.1016/j.ajhg.2022.03.004)
- 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)
- Bellenguez, C. et al. 2022. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics 54(4), pp. 412-436. (10.1038/s41588-022-01024-z)
- 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)
- Jones, H. J. et al. 2022. Examining pathways between genetic liability for schizophrenia and patterns of tobacco and cannabis use in adolescence. Psychological Medicine 52(1), pp. 132-139. (10.1017/S0033291720001798)
- 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)
- Dimitriadis, S. I. et al. 2021. Genetic risk for schizophrenia is associated with altered visually-induced gamma band activity: evidence from a population sample stratified polygenic risk. Translational Psychiatry 11, article number: 592. (10.1038/s41398-021-01678-z)
- Dennison, C. et al. 2021. Risk factors, clinical features, and polygenic risk scores in schizophrenia and schizoaffective disorder depressive-type. Schizophrenia Bulletin 47(5), pp. 1375-1384. (10.1093/schbul/sbab036)
- 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)
- Rees, E. et al. 2021. Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. Nature Communications 12, article number: 5353. (10.1038/s41467-021-25532-4)
- 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)
- Jones, R. E., Andrews, R., Holmans, P., Hill, M. and Taylor, P. R. 2021. Modest changes in Spi1 dosage reveal the potential for altered microglial function as seen in Alzheimer's disease. Scientific Reports 11(1), article number: 14935. (10.1038/s41598-021-94324-z)
- 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)
- 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)
- de Rojas, I. et al. 2021. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications 12(1), article number: 3417. (10.1038/s41467-021-22491-8)
- Harwood, J., Leonenko, G., Sims, R., Escott-Price, V., Williams, J. and Holmans, P. 2021. Defining functional variants associated with Alzheimer's disease in the induced immune response. Brain Communications 3(2), article number: fcab083. (10.1093/braincomms/fcab083)
- Chen, Z. et al. 2021. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications 12(1), article number: 2076. (10.1038/s41467-021-22262-5)
- Hess, J. L. et al. 2021. A polygenic resilience score moderates the genetic risk for schizophrenia. Molecular Psychiatry 26(3), pp. 800-815. (10.1038/s41380-019-0463-8)
- McAllister, B. et al. 2021. Timing and impact of psychiatric, cognitive, and motor abnormalities in Huntington disease. Neurology 96(19), pp. e2395-e2406. (10.1212/WNL.0000000000011893)
- Hong, E. P. et al. 2021. Huntington's disease pathogenesis: two sequential components. Journal of Huntington's Disease 10(1), pp. 35-51. (10.3233/JHD-200427)
- Donaldson, J., Powell, S., Rickards, N., Holmans, P. and Jones, L. 2021. What is the pathogenic CAG expansion length in Huntington’s disease?. Journal of Huntington's Disease 10(1), pp. 175-202. (10.3233/JHD-200445)
- Katzourou, I. et al. 2021. Cognitive decline in Alzheimer’s disease is not associated with APOE. Journal of Alzheimer's Disease 84(1), pp. 141-149. (10.3233/jad-210685)
- Hong, E. P. et al. 2021. Association analysis of chromosome X to identify genetic modifiers of Huntington's disease. Journal of Huntington's Disease 10(3), pp. 367-375. (10.3233/JHD-210485)
- Holmans, P. 2020. Using genetics to increase specificity of outcome prediction in psychiatric disorders: prospects for progression. American Journal of Psychiatry 177(10), pp. 884-887. (10.1176/appi.ajp.2020.20081181)
- Akingbuwa, W. A. et al. 2020. Genetic associations between childhood psychopathology and adult depression and associated traits in 42 998 individuals. JAMA Psychiatry 77(7), pp. 715-728. (10.1001/jamapsychiatry.2020.0527)
- Kim, K. et al. 2020. Genetic and functional analyses point to FAN1 as the source of multiple Huntington Disease modifier effects. American Journal of Human Genetics 107(1), pp. 96-110. (10.1016/j.ajhg.2020.05.012)
- Ellis, N. et al. 2020. Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease. Biological Psychiatry 87(9), pp. 857-865. (10.1016/j.biopsych.2019.12.010)
- Flower, M., Lomeikaite, V., Holmans, P., Jones, L., Tabrizi, S. J. and Monckton, D. G. 2020. Reply: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia. Brain 143(4), article number: e26. (10.1093/brain/awaa044)
- 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)
- Sullivan, S. A. et al. 2020. A population-based cohort study examining the incidence and impact of psychotic experiences from childhood to adulthood, and prediction of psychotic disorder. American Journal of Psychiatry 177(4), pp. 308-317. (10.1176/appi.ajp.2019.19060654)
- Richards, A. et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46(2), pp. -. (10.1093/schbul/sbz061)
- 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)
- Lam, M. et al. 2019. Comparative genetic architectures of schizophrenia in East Asian and European populations. Nature Genetics 51, pp. 1670-1678. (10.1038/s41588-019-0512-x)
- Lee, P. H. et al. 2019. Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders. Cell 179(7), pp. 1469-1482.e11. (10.1016/j.cell.2019.11.020)
- Ciosi, M. et al. 2019. A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes. EBioMedicine 48, pp. 568-580. (10.1016/j.ebiom.2019.09.020)
- 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)
- Lee, J. et al. 2019. CAG repeat not polyglutamine length determines timing of Huntington’s disease onset. Cell 178(4), pp. 887-099.e14. (10.1016/j.cell.2019.06.036)
- Baker, E. et al. 2019. Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease. PLoS ONE 14(7), article number: e0218111. (10.1371/journal.pone.0218111)
- Flower, M. et al. 2019. MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1. Brain 142(7), pp. 1876-1886. (10.1093/brain/awz115)
- Chawner, S. J. R. A. et al. 2019. Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study. Lancet Psychiatry 6(6), pp. 493 - 505. (10.1016/S2215-0366(19)30123-3)
- Stahl, E. A. et al. 2019. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nature Genetics 51, pp. 793-803. (10.1038/s41588-019-0397-8)
- Gorman, K. M. et al. 2019. Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia. American Journal of Human Genetics 104(5), pp. 948-956. (10.1016/j.ajhg.2019.03.005)
- 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)
- Lancaster, T. M. et al. 2019. Structural and functional neuroimaging of polygenic risk for schizophrenia: a recall-by-genotype-based approach. Schizophrenia Bulletin 45(2), pp. 405-414. (10.1093/schbul/sby037)
- Kunkle, B. W. et al. 2019. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics 51(3), pp. 414-430. (10.1038/s41588-019-0358-2)
- Goold, R. et al. 2019. FAN1 modifies Huntington's disease progression by stabilising the expanded HTT CAG repeat. Human Molecular Genetics 28(4), pp. 650-661., article number: ddy375. (10.1093/hmg/ddy375)
- Clifton, N. E. et al. 2019. Dynamic expression of genes associated with schizophrenia and bipolar disorder across development. Translational Psychiatry 9, article number: 74. (10.1038/s41398-019-0405-x)
- Vivian-Griffiths, T. et al. 2019. Predictive modeling of schizophrenia from genomic data: Comparison of polygenic risk score with kernel support vector machines approach. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 180(1), pp. 80-85. (10.1002/ajmg.b.32705)
- Beltrami, C. et al. 2018. Association of elevated urinary miR-126, miR-155, and miR-29b with diabetic kidney disease. American Journal of Pathology 188(9), pp. 1982-1992. (10.1016/j.ajpath.2018.06.006)
- Jones, H. J. et al. 2018. Investigating the genetic architecture of general and specific psychopathology in adolescence. Translational Psychiatry 8(1), article number: 145. (10.1038/s41398-018-0204-9)
- Ahmad, S. et al. 2018. Disentangling the biological pathways involved in early features of Alzheimer's disease in the Rotterdam Study. Alzheimer's and Dementia 14(7), pp. 848-857. (10.1016/j.jalz.2018.01.005)
- McNulty, P. et al. 2018. Reduced cancer incidence in Huntington's disease: analysis in the Registry study. Journal of Huntington's Disease 7(3), pp. 209-222. (10.3233/JHD-170263)
- Baker, E., Schmidt, K. M., Sims, R., O'Donovan, M. C., Williams, J., Holmans, P. and Escott-Price, V. 2018. POLARIS: polygenic LD-adjusted risk score approach for set-based analysis of GWAS data. Genetic Epidemiology 42(4), pp. 366-377. (10.1002/gepi.22117)
- Anttila, V. et al. 2018. Analysis of shared heritability in common disorders of the brain. Science 360(6395), article number: eaap8757. (10.1126/science.aap8757)
- Martin, J. et al. 2018. A genetic investigation of sex bias in the prevalence of attention-deficit/hyperactivity disorder. Biological Psychiatry 83(12), pp. 1044-1053. (10.1016/j.biopsych.2017.11.026)
- Ruderfer, D. M. et al. 2018. Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes. Cell 173(7), pp. 1705-1715.e16. (10.1016/j.cell.2018.05.046)
- Chao, M. J. et al. 2018. Population-specific genetic modification of Huntington's disease in Venezuela. PLoS Genetics 14(5), article number: e1007274. (10.1371/journal.pgen.1007274)
- 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)
- McColgan, P. et al. 2018. Brain regions showing white matter loss in Huntington's Disease are enriched for synaptic and metabolic genes. Biological Psychiatry 83(5), pp. 456-465. (10.1016/j.biopsych.2017.10.019)
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- Wavrant-De Vrieze, F. et al. 1999. Genetic variability at the amyloid-beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease. Neuroscience Letters 269(2), pp. 67-70.
- Hateboer, N., Lazarou, L. P., Williams, A. J., Holmans, P. A. and Ravine, D. 1999. Familial phenotype differences in PKD11. Kidney International 56(1), pp. 34-40. (10.1046/j.1523-1755.1999.00541.x)
- Rees, M. I. et al. 1999. Autosome search for schizophrenia susceptibility genes in multiply affected families. Molecular Psychiatry 4(4), pp. 353-359. (10.1038/sj.mp.4000521)
- Wavrant-DeVrieze, F. et al. 1999. No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease. Neuroscience Letters 262(2), pp. 137-139. (10.1016/S0304-3940(99)00035-X)
- Kehoe, P. et al. 1999. A full genome scan for late onset Alzheimer's disease. Human Molecular Genetics 8(2), pp. 237-245. (10.1093/hmg/8.2.237)
- Bandmann, O., Vaughan, J., Holmans, P. A., Marsden, C. D. and Wood, N. W. 1999. Toxins, genetics, and Parkinson's disease: the role of N-acetyltransferase 2. Advances in Neurology -New York- Raven Press- 80, pp. 199-204.
- Holmans, P. A. 1998. Affected sib-pair methods for detecting linkage to dichotomous traits: review of the methodology. Human biology 70(6), pp. 1025-1040.
- Kehoe, P. G., Williams, H., Holmans, P. A., Wilcock, G., Cairns, N. J., Neal, J. and Owen, M. J. 1998. The butyrylcholinesterase K variant and susceptibility to Alzheimer's disease. Journal of Medical Genetics 35(12), pp. 1034-1035. (10.1136/jmg.35.12.1034)
- Bandmann, O. et al. 1998. Dopa-responsive dystonia: a clinical and molecular genetic study. Annals of Neurology 44(4), pp. 649-656. (10.1002/ana.410440411)
- Wu, W. S. et al. 1998. Genetic studies on chromosome 12 in late-onset Alzheimer disease. JAMA - The Journal of the American Medical Association 280(7), pp. 619-622. (10.1001/jama.280.7.619)
- Daniels, J., Holmans, P. A., Williams, N. M., Turic, D., McGuffin, P., Plomin, R. and Owen, M. J. 1998. A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies. American Journal of Human Genetics 62(5), pp. 1189-1197. (10.1086/301816)
- Williams, J. et al. 1998. A meta-analysis and transmission disequilibrium study of association between the dopamine D3 receptor gene and schizophrenia. Molecular Psychiatry 3(2), pp. 141-149.
- Holmans, P. A. and Craddock, N. J. 1998. Efficient strategies for genome scanning with affected sib pairs - Reply. American Journal of Human Genetics 62(1), pp. 205-207. (10.1086/301683)
- Hateboer, N., Lazarou, L., Holmans, P. A., Williams, A. J. and Ravine, D. 1998. Inter-family variability of phenotype in autosomal dominant polycystic kidney disease type 1. European Journal of Human Genetics 6(1), pp. 71-71.
- Murphy, K. C., Williams, N. M., Cardno, A. G., Jones, L. A., Holmans, P. A., McGuffin, P. and Owen, M. J. 1998. A linkage study of chromosome 22q in SIB-pairs with schizophrenia. Schizophrenia Research 29(1-2), pp. 131-132. (10.1016/S0920-9964(97)88632-X)
- Spurlock, G. et al. 1998. A family based association study of T102C polymorphism in 5HT2A and schizophrenia plus identification of new polymorphisms in the promoter. Molecular Psychiatry 3(1), pp. 42-49. (10.1038/sj.mp.4000342)
- Bandmann, O., Vaughan, J., Holmans, P. A., Marsden, C. D. and Wood, N. W. 1997. Association of slow acetylator genotype for N-acetyltransferase 2 with familial Parkinson's disease. The Lancet 350(9085), pp. 1136-1139. (10.1016/S0140-6736(97)03495-8)
- Hateboer, N. et al. 1997. PKD2: The phenotype defined. Kidney International 52(4), pp. 1122-1122.
- Baboolal, K., Ravine, D., Daniels, J., Williams, N. M., Holmans, P. A., Coles, G. A. and Williams, J. D. 1997. Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease. Kidney International 52(3), pp. 607-613. (10.1038/ki.1997.373)
- Hateboer, N. et al. 1997. Phenotype PKD2 vs. PKD1; results from the European concerted action.. Journal of the American Society of Nephrology 8, pp. A1722-A1722.
- Rees, M. et al. 1997. Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT). Molecular Psychiatry 2(5), pp. 398-402. (10.1038/sj.mp.4000256)
- Owen, M. J., Holmans, P. A. and McGuffin, P. 1997. Association studies in psychiatric genetics. Molecular Psychiatry 2(4), pp. 270-273. (10.1038/sj.mp.4000292)
- Daniels, J. K. et al. 1997. Linkage study of chromosome 6p in sib-pairs with schizophrenia. American Journal of Medical Genetics 74(3), pp. 319-323. (10.1002/(SICI)1096-8628(19970531)74:3<319::AID-AJMG14>3.0.CO;2-R)
- Holmans, P. A. and Craddock, N. J. 1997. Efficient strategies for genome scanning using maximum-likelihood affected-sib-pair analysis. American Journal of Human Genetics 60(3), pp. 657-666.
- Levinson, D. F. et al. 1996. Additional support for schizophrenia linkage on chromosomes 6 and 8: a multicenter study. Schizophrenia Linkage Collaborative Group for Chromosomes 3, 6 and 8. American Journal of Medical Genetics 67(6), pp. 580-594. (10.1002/(SICI)1096-8628(19961122)67:6<580::AID-AJMG11>3.0.CO;2-P)
- Kehoe, P. et al. 1996. Association between a PS-1 intronic polymorphism and late onset Alzheimer's disease. NeuroReport 7(13), pp. 2155-2158. (10.1097/00001756-199609020-00019)
- Asherson, P. et al. 1996. Linkage, association and mutational analysis of the dopamine D3 receptor gene in schizophrenia. Molecular Psychiatry 1(2), pp. 125-132.
- Craddock, N. J., Daniels, J., Holmans, P. A., Williams, N. M. and Owen, M. J. 1996. Increasing the efficiency of genomic searches for linkage in complex disorders by DNA pooling of affected sib-pairs. Molecular Psychiatry 1(1), pp. 59-64.
- Gill, M. et al. 1996. A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22).. American Journal of Medical Genetics 67(1), pp. 40-45. (10.1002/(SICI)1096-8628(19960216)67:1<40::AID-AJMG6>3.0.CO;2-W)
- Cardno, A., Holmans, P. A., Harvey, I., Williams, M. B., Owen, M. J. and McGuffin, P. 1996. Factor-derived subsyndromes of schizophrenia and familial morbid risks. Schizophrenia Research 18(2-3), pp. IVA2-IVA2.
- Roberts, A. G. et al. 1995. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. Human Molecular Genetics 4(12), pp. 2387-2390. (10.1093/hmg/4.12.2387)
- Holmans, P. A. and Clayton, D. 1995. Efficiency of typing unaffected relatives in an affected-sib-pair linkage study with single-locus and multiple tightly linked markers. American Journal of Human Genetics 57(5), pp. 1221-1232.
- Wood, N. W., Sawcer, S. J., Kellar-Wood, H. F., Holmans, P. A., Clayton, D., Robertson, N. and Compston, D. A. 1995. The T-cell receptor beta locus and susceptibility to multiple sclerosis. Neurology 45(10), pp. 1859-1863. (10.1212/WNL.45.10.1859)
- Wood, N. W., Sawcer, S. J., Kellar-Wood, H. F., Holmans, P. A., Clayton, D., Robertson, N. and Compston, D. A. 1995. Susceptibility to multiple sclerosis and the immunoglobulin heavy chain variable region. Journal of Neurology 242(10), pp. 677-682. (10.1007/BF00866919)
- Kellar-Wood, H. F., Wood, N. W., Holmans, P. A., Clayton, D., Robertson, N. and Compston, D. A. 1995. Multiple sclerosis and the HLA-D region: linkage and association studies. Journal of Neuroimmunology 58(2), pp. 183-190. (10.1016/0165-5728(95)00015-T)
- Holmans, P. A., McGuffin, P. and Clayton, D. 1995. Genome scan for association and linkage. Genetic Epidemiology 12(6), pp. 613-618. (10.1002/gepi.1370120615)
- Robertson, N., Wood, N., Holmans, P. A., Kellar-Wood, H. F., Sawcer, S. and Wood, N. W. 1995. Strategies for the identification of susceptibility genes in multiple sclerosis [Editorial]. The International Ms Journal 2, pp. 19-28.
- Wood, N. W., Holmans, P. A., Clayton, D., Robertson, N. P. and Compston, D. A. 1994. No linkage or association between multiple sclerosis and the myelin basic protein gene in affected sibling pairs. Journal of Neurology, Neurosurgery & Psychiatry 57(10), pp. 1191-1194. (10.1136/jnnp.57.10.1191)
- Eoli, M., Wood, N., Kellar-Wood, H., Holmans, P. A., Clayton, D. and Compston, D. 1994. No linkage between multiple sclerosis and the T cell receptor alpha chain locus. Journal of the Neurological Sciences 124(1), pp. 32. (10.1016/0022-510X(94)90007-8)
- Holmans, P. A. 1993. Asymptotic properties of affected-sib-pair linkage analysis. American journal of human genetics 52(2), pp. 362-374.
Book sections
- Holmans, P. and Stone, T. 2018. Using genomic data to find disease-modifying loci in Huntington's Disease (HD). In: Precious, S. V., Rosser, A. E. and Dunnett, S. eds. Huntington’s Disease., Vol. 1780. Methods in Molecular Biology Humana Press, pp. 443-461., (10.1007/978-1-4939-7825-0_20)
- Holmans, P. A. 2010. Statistical methods for pathway analysis of genome-wide data for association with complex genetic traits. In: Moore, J. H. and Dunlap, J. C. eds. Computational Methods for Genetics of Complex Traits. Advances in Genetics Vol. 72. San Diego, CA: Academic Press, pp. 141-179., (10.1016/B978-0-12-380862-2.00007-2)
Conferences
- Markoulidakis, A., Taiyari, K., Holmans, P., Pallmann, P., Busse, M. and Griffin, B. A. 2021. Examining the effect of exercise on the progression and severity of Huntington's disease using different covariate balancing methods and simulated data derived from the PACE-HD study. Presented at: Huntington Study Group 2020: HD in Focus, 29-31 October 2020, Vol. 92. Vol. 1. BMJ Publishing Group, (10.1136/jnnp-2021-EHDN.74)
Websites
- Crawford, K. et al. 2022. Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways. [Online]. medRxiv: Cold Spring Harbor Laboratory. (10.1101/2022.06.29.22276952) Available at: https://doi.org/10.1101/2022.06.29.22276952
- Markoulidakis, A., Holmans, P., Pallmann, P., Busse, M. and Griffin, B. A. 2021. CoBWeb: a user-friendly web application to estimate causal treatment effects from observational data using multiple algorithms. [Online]. Cornell University. Available at: https://arxiv.org/abs/2112.05035
- Markoulidakis, A., Holmans, P., Pallmann, P., Busse, M. and Griffin, B. A. 2021. How balance and sample size impact bias in the estimation of causal treatment effects: a simulation study. [Online]. Cornell University. Available at: https://arxiv.org/abs/2107.09009
- McAllister, B. et al. 2020. The onset and prevalence of motor and psychiatric symptoms in Huntington’s disease. [Online]. bioRxiv. (10.1101/2020.05.26.116798)
- Markoulidakis, A., Taiyari, K., Holmans, P., Pallmann, P., Busse-Morris, M. and Griffin, B. A. 2020. A tutorial comparing different covariate balancing methods with an application evaluating the causal effect of exercise on the progression of Huntington’s disease. [Online]. arXiv. Available at: https://arxiv.org/abs/2010.09563
- Chawner, S., Owen, M. J., Holmans, P., Raymond, L., Skuse, D., Hall, J. and van den Bree, M. 2019. Genotype-phenotype relationships in children with copy number variants associated with high neuropsychiatric risk: Findings from the Intellectual Disability & Mental Health: Assessing the Genomic Impact on Neurodevelopment (IMAGINE-ID) study.. [Online]. BioRxiv. (10.1101/535708) Available at: https://doi.org/10.1101/535708
- 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 am Professor of Biostatistics & Genetic Epidemiology in the Biostatistics & Bioinformatics Unit (BBU) in the Wales College of Medicine, Cardiff University, UK, and direct the research in statistical genetics carried out by the BBU. The BBU has close links with several departments carrying out large-scale linkage and association studies of complex traits. These include studies of schizophrenia, bipolar disorder, late-onset Alzheimer's disease, ADHD and dyslexia currently being carried out in the Department of Psychological Medicine. I work with numerous international collaborators, notably Prof Doug Levinson (Stanford University, USA), studying schizophrenia and recurrent major depression. Over the past 5 years, BBU members have been authors on over 150 peer-reviewed papers, and named applicants on awarded grants totalling over £8 million.
I have a long-standing interest in the analysis of genome-wide linkage and association studies of complex genetic traits. I have also recently become involved in the analysis of gene expression data, in genome-wide linkage and association studies to find eQTLs relevant to disease. I have taken an active role in developing novel statistical methodology for linkage and association analysis of complex genetic traits, notably in the use of covariates in linkage and association studies, and the effects of genotyping error on genetic studies. Currently, I am particularly interested in the analysis of functional pathways in genome-wide association, CNV and gene expression data.
Contact Details
+44 29206 88427
Hadyn Ellis Building, Room 2.09, Maindy Road, Cardiff, CF24 4HQ