Professor Valentina Escott-Price
Professor, Dementia Research Institute
- escottpricev@cardiff.ac.uk
- +44 (0)29 2068 8429
- 1.03 - Office D, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ
Overview
There is a need to integrate increasingly large amounts of data from increasingly diverse sources where the genetic effects are often so small that there is an insurmountable signal to noise problem with individual tests caused by hidden population admixture and small genotyping error rates. It is therefore important to develop methods which include the identification of weak signals in disease genes and convergent biological pathways and systems on a very noisy background and to develop approaches to combining the effects of multiple genetic loci taking into account the random correlation structure. We develop and apply alternative new solutions to the problems posed by genome-wide analyses to identify novel genes.
In collaboration with the School of Mathematics and department of Computer Science of Cardiff University, we expand this research further in the bioinformatics area, working on the methodology of genetic interactions analyses and on the application of machine learning techniques to genetic data.
Other responsibilities
- Director of Postgraduate Research in the MRC Centre for Neuro-Psychiatric Genetics and Genomics
Biography
- MSc in Mathematics (1991) Department of Mathematics and Mechanics, St.Petersburg University, Russia.
- PhD in Statistics (2001), School of Mathematics, Cardiff University, UK.
- Research Assistant, School of Mathematics, Cardiff University (1998-2002).
- Research Assistant, Department of Psychological Medicine, School of Medicine, Cardiff University (2002-2003).
- Lecturer in Biostatistics and Genetic Epidemiology, Bioinformatics and Biostatistics Unit, School of Medicine, Cardiff University (2003-2005).
- RCUK Research Fellow, Bioinformatics and Biostatistics Unit, School of Medicine, Cardiff University (2005-2010).
- Senior Lecturer, MRC Centre for Neuro-Psychiatric Genetics and Genomics, School of Medicine, Cardiff University (2010-2014).
- Reader, MRC Centre for Neuro-Psychiatric Genetics and Genomics, School of Medicine, Cardiff University (2014-2016).
- Since 2016: Professor, MRC Centre for Neuro-Psychiatric Genetics and Genomics, School of Medicine, Cardiff University.
Publications
2023
- Stephens, A. et al. 2023. Developing and validating a prediction model of adolescent major depressive disorder in the offspring of depressed parents. Journal of Child Psychology and Psychiatry 64(3), pp. 367-375. (10.1111/jcpp.13704)
- Graham, N. S. N. et al. 2023. ADVANCE-TBI study protocol: traumatic brain injury outcomes in UK military personnel serving in Afghanistan between 2003 and 2014 – a longitudinal cohort study. BMJ Open 13, article number: e069243. (10.1136/bmjopen-2022-069243)
- Stevenson-Hoare, J. et al. 2023. Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer's disease. Brain 146(2), pp. 690-699. (10.1093/brain/awac128)
- Wills, C. et al. 2023. Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer. Genes, Chromosomes and Cancer (10.1002/gcc.23133)
- Zhao, Y., Vavouraki, N., Lovering, R., Escott-Price, V., Harvey, K., Lewis, P. and Manzoni, C. 2023. Tissue specific LRRK2 interactomes reveal a distinct striatal functional unit. PLoS Computational Biology 19(1), article number: e1010847. (10.1371/journal.pcbi.1010847)
- Petrican, R., Paine, A. L., Escott-Price, V. and Shelton, K. H. 2023. Overlapping brain correlates of superior cognition among children at genetic risk for Alzheimer’s disease and/or major depressive disorder. Scientific Reports 13(1), pp. 984. (10.1038/s41598-023-28057-6)
- Bellou, E. and Escott-Price, V. 2023. Are Alzheimer's and coronary artery diseases genetically related to longevity?. Frontiers in Psychiatry 13 (10.3389/fpsyt.2022.1102347)
- Simmonds, E. et al. 2023. What does heritability of Alzheimer’s disease represent?. PLoS ONE
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)
- Stevenson-Hoare, J. O. et al. 2022. Blood plasma biomarkers improve prediction accuracy over and above genetic predictors of Alzheimer's disease [Abstract]. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 18(S6), article number: e064192. (10.1002/alz.064192)
- Bracher-Smith, M. et al. 2022. Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer’s disease pathogenesis. Neurobiology of Aging 119, pp. 67-76. (10.1016/j.neurobiolaging.2022.07.009)
- 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)
- Wren, G. et al. 2022. Characterising heart rhythm abnormalities associated with Xp22.31 deletion. Journal of Medical Genetics (10.1136/jmg-2022-108862)
- Hardy, J., de Strooper, B. and Escott-Price, V. 2022. Alzheimer’s disease and type 2 diabetes: shared genetic susceptibility?. The Lancet Neurology 21(11), pp. 962-964. (10.1016/S1474-4422(22)00395-7)
- Caseras, X., Legge, S., Bracher-Smith, M., Anney, R., Owen, M., Escott-Price, V. and Kirov, G. 2022. Copy Number Variants increasing risk for schizophrenia: shared and distinct effects on brain morphometry and cognitive performance. Biological Psychiatry: Global Open Science (10.1016/j.bpsgos.2022.10.006)
- Watts, K. et al. 2022. Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome. International Journal of Cancer 151(6), pp. 957-966. (10.1002/ijc.34046)
- 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)
- 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
- Martin-Flores, N., Podpolny, M., McLeod, F., Crawford, K., Ivanov, D., Escott-Price, V. and Salinas, P. 2022. Restoring synapse integrity and memory in Alzheimer’s disease by downregulation of the Wnt antagonist Dickkopf-3. [Online]. bioRxiv: bioRxiv. (10.1101/2022.06.16.495307) Available at: https://www.biorxiv.org/content/10.1101/2022.06.16.495307v1
- Chambers, T. et al. 2022. Genetic common variants associated with cerebellar volume and their overlap with mental disorders: a study on 33,265 individuals from the UK-Biobank. Molecular Psychiatry 27, pp. 2282-2290. (10.1038/s41380-022-01443-8)
- 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)
- Karlsson, I. K., Escott-Price, V., Gatz, M., Hardy, J., Pedersen, N. L., Shoai, M. and Reynolds, C. A. 2022. Measuring heritable contributions to Alzheimer's disease: polygenic risk score analysis with twins. Brain Communications 4(1), article number: fcab308. (10.1093/braincomms/fcab308)
- Escott-Price, V. and Hardy, J. 2022. Genome-wide association studies for Alzheimer’s disease: bigger is not always better. Brain Communications 4(3), article number: fcac125. (10.1093/braincomms/fcac125)
- Wagen, A. Z. et al. 2022. Life course, genetic, and neuropathological associations with brain age in the 1946 British Birth Cohort: a population-based study. The Lancet Healthy Longevity 3(9), pp. e607-e616. (10.1016/S2666-7568(22)00167-2)
2021
- Di Florio, A. et al. 2021. Post-partum psychosis and its association with bipolar disorder in the UK: a case-control study using polygenic risk scores. The Lancet Psychiatry 8(12), pp. 1045-1052. (10.1016/S2215-0366(21)00253-4)
- Wills, C. et al. 2021. Genome-wide search for determinants of survival in 1,926 patients with advanced colorectal cancer with follow-up in over 22,000 patients. European Journal Of Cancer 159, pp. 247-258. (10.1016/j.ejca.2021.09.047)
- Magusali, N. et al. 2021. A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene. Brain 144(12), pp. 3727–3741. (10.1093/brain/awab337)
- Watts, K. et al. 2021. Genome-wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer. International Journal of Cancer 149(9), pp. 1713-1722. (10.1002/ijc.33739)
- Escott-Price, V. and Schmidt, K. M. 2021. Correction to: Probability of Alzheimer's disease based on common and rare genetic variants. Alzheimer's Research and Therapy 13(1), article number: 156. (10.1186/s13195-021-00898-1)
- Escott-Price, V. and Schmidt, K. M. 2021. Probability of Alzheimer’s disease based on common and rare genetic variants. Alzheimer's Research & Therapy 13, article number: 140. (10.1186/s13195-021-00884-7)
- 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)
- Leonenko, G. et al. 2021. Identifying individuals with high risk of Alzheimer’s disease using polygenic risk scores. Nature Communications 12, article number: 4506.
- Amare, A. T. et al. 2021. Association of polygenic score for major depression with response to lithium in patients with bipolar disorder. Molecular Psychiatry 26, pp. 2457-2470. (10.1038/s41380-020-0689-5)
- 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)
- Escott-Price, V. and Schmidt, K. M. 2021. Challenges of adjusting Single-Nucleotide Polymorphism effect sizes for linkage disequilibrium. Human Heredity 85(1), pp. 24-34. (10.1159/000513303)
- Dennison, C. A. et al. 2021. Association of genetic liability for psychiatric disorders with accelerometer-assessed physical activity in the UK Biobank. PLoS ONE 16(3), article number: e0249189. (10.1371/journal.pone.0249189)
- 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)
- Bracher-Smith, M., Crawford, K. and Escott-Price, V. 2021. Machine learning for genetic prediction of psychiatric disorders: a systematic review. Molecular Psychiatry 26, pp. 70-79. (10.1038/s41380-020-0825-2)
- Vergallo, A. et al. 2021. MiRNA-15b and miRNA-125b are associated with regional Aβ-PET and FDG-PET uptake in cognitively normal individuals with subjective memory complaints. Translational Psychiatry 11(1), article number: 78. (10.1038/s41398-020-01184-8)
- Lubbe, S. J. et al. 2021. Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk. Human Molecular Genetics 30(1), pp. 78-86. (10.1093/hmg/ddaa273)
- 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)
- Rowe, T., Katzourou, I., Stevenson-Hoare, J., Bracher-Smith, M., Ivanov, D. and Escott-Price, V. 2021. Machine learning for the life-time risk prediction of Alzheimer’s disease: a systematic review. Brain Communications 3(4), article number: fcab246. (10.1093/braincomms/fcab246)
2020
- Costa, B. et al. 2020. C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts. Neurology 95(24), pp. e3288-e3302. (10.1212/WNL.0000000000010914)
- Ward, J. et al. 2020. The genomic basis of mood instability: identification of 46 loci in 363,705 UK Biobank participants, genetic correlation with psychiatric disorders, and association with gene expression and function. Molecular Psychiatry 25, pp. 3091-3099. (10.1038/s41380-019-0439-8)
- Ivanov, D., Bostelmann, G., Lan-Leung, B., Williams, J., Partridge, L., Escott-Price, V. and Thornton, J. 2020. A novel computational approach for predicting complex phenotypes in Drosophila (starvation-sensitive and sterile) by deriving their gene expression signatures from public data. PLoS ONE 15(10), article number: e0240824. (10.1371/journal.pone.0240824)
- Sierksma, A., Escott-Price, V. and De Strooper, B. 2020. Translating genetic risk of Alzheimer’s disease into mechanistic insight and drug targets. Science 370(6512), pp. 61-66. (10.1126/science.abb8575)
- Bellou, E. et al. 2020. Age-dependent effect of APOE and polygenic component on Alzheimer's disease. Neurobiology of Aging 93, pp. 69-77., article number: Neurobiology of Aging Volume 93, September 2020, Pages 69-77. (10.1016/j.neurobiolaging.2020.04.024)
- Cooksey, R., Kennedy, J., Dennis, M., Escott-Price, V., Lyons, R. and Seaborne, M. 2020. Proton pump inhibitors and dementia risk: evidence from a cohort study using linked routinely collected national health data in Wales, UK.. PLoS ONE 15(9), article number: e0237676. (10.1371/journal.pone.0237676)
- Grama, S. et al. 2020. Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort. Translational Psychiatry 10, article number: 309. (10.1038/s41398-020-00940-0)
- Bellou, E., Stevenson-Hoare, J. and Escott-Price, V. 2020. Polygenic risk and pleiotropy in neurodegenerative diseases. Neurobiology of Disease 142, article number: 104953. (10.1016/j.nbd.2020.104953)
- Baker, E. and Escott-Price, V. 2020. Polygenic risk scores in Alzheimer’s disease: current applications and future directions. Frontiers in Digital Health: Personalized Medicine 2(14) (10.3389/fdgth.2020.00014)
- Coleman, J. R. I. et al. 2020. Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank. Molecular Psychiatry 25, pp. 1430-1446. (10.1038/s41380-019-0546-6)
- 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)
- Richards, A. et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46(2), pp. -. (10.1093/schbul/sbz061)
- Lewis, K. J. et al. 2020. Comparison of genetic liability for sleep traits among individuals with Bipolar Disorder I or II and control participants. JAMA Psychiatry 77(3), pp. 303-310. (10.1001/jamapsychiatry.2019.4079)
- Harrison, J. R., Mistry, S., Muskett, N. and Escott-Price, V. 2020. From polygenic scores to precision medicine in Alzheimer’s Disease: A systematic review. Journal of Alzheimer's Disease 74(4), pp. 1271-1283. (10.3233/JAD-191233)
- Glanville, K. P. et al. 2020. Classical human leukocyte antigen alleles and C4 haplotypes are not significantly associated with depression. Biological Psychiatry 87(5), pp. 419-430. (10.1016/j.biopsych.2019.06.031)
- 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)
- Orme, T. et al. 2020. Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathologica Communications 8(1), article number: 5. (10.1186/s40478-020-0879-z)
- Summers, M. G., Maughan, T. S., Kaplan, R., Law, P. J., Houlston, R. S., Escott-Price, V. and Cheadle, J. P. 2020. Comprehensive analysis of colorectal cancer-risk loci and survival outcome: a prognostic role for CDH1 variants.. European Journal Of Cancer 124, pp. 56-63. (10.1016/j.ejca.2019.09.024)
- 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)
- Mistry, S., Escott-Price, V., Di Florio, A., Smith, D. and Zammit, S. 2019. Investigating associations between genetic risk for bipolar disorder and cognitive functioning in childhood. Journal of Affective Disorders 259, pp. 112-120. (10.1016/j.jad.2019.08.040)
- Escott-Price, V. et al. 2019. Polygenic risk for schizophrenia and season of birth within the UK Biobank cohort. Psychological Medicine 49(15), pp. 2499-2504. (10.1017/S0033291718000454)
- Hardy, J. and Escott-Price, V. 2019. Genes, pathways and risk prediction in Alzheimer's disease. Human Molecular Genetics 28(R2), pp. R235-R240. (10.1093/hmg/ddz163)
- Salih, D. A. et al. 2019. Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk. Brain Communications 1(1), pp. -., article number: fcz022. (10.1093/braincomms/fcz022)
- Leonenko, G. et al. 2019. Genetic risk for Alzheimer's disease is distinct from genetic risk for amyloid deposition. Annals of Neurology 86(3), pp. 427-435. (10.1002/ana.25530)
- Gray, V. et al. 2019. Pattern recognition receptor polymorphisms as predictors of oxaliplatin benefit in colorectal cancer. JNCI: Journal of the National Cancer Institute 111(8), pp. 828-836. (10.1093/jnci/djy215)
- Escott-Price, V., Pardinas, A. F., Santiago, E., Walters, J., Kirov, G., Owen, M. J. and O'Donovan, M. C. 2019. The relationship between common variant schizophrenia liability and number of offspring in the UK Biobank. American Journal of Psychiatry 176(8), pp. 661-666. (10.1176/appi.ajp.2018.18020140)
- 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)
- Guerreiro, R. et al. 2019. Heritability and genetic variance of dementia with Lewy bodies. Neurobiology of Disease 127, pp. 492-501. (10.1016/j.nbd.2019.04.004)
- Czamara, D. et al. 2019. Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns. Nature Communications 10, article number: 2548. (10.1038/s41467-019-10461-0)
- 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)
- Escott-Price, V., Baker, E., Shoai, M., Leonenko, G., Myers, A. J., Huentelman, M. and Hardy, J. 2019. Genetic analysis suggests high misassignment rates in clinical Alzheimer's cases and controls. Neurobiology of Aging 77, pp. 178-182. (10.1016/j.neurobiolaging.2018.12.002)
- 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(5), pp. 297-304. (10.1192/bjp.2018.301)
- 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)
- 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)
- Leonenko, G. et al. 2019. Polygenic risk and hazard scores for Alzheimer's disease prediction. Annals of Clinical and Translational Neurology 6(3), pp. 456-465. (10.1002/acn3.716)
- Kun-Rodrigues, C. et al. 2019. A comprehensive screening of copy number variability in dementia with Lewy bodies. Neurobiology of Aging 75 (10.1016/j.neurobiolaging.2018.10.019)
- Mistry, S., Escott-Price, V., Di Florio, A., Smith, D. J. and Zammit, S. 2019. Genetic risk for bipolar disorder and psychopathology from childhood to early adulthood. Journal of Affective Disorders 246, pp. 633-639. (10.1016/j.jad.2018.12.091)
- 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)
- Escott-Price, V., Bracher-Smith, M., Menzies, G., Walters, J., Kirov, G., Owen, M. J. and O'Donovan, M. C. 2019. Genetic liability to schizophrenia is negatively associated with educational attainment in UK Biobank. Journal of Molecular Psychiatry, pp. -. (10.1038/s41380-018-0328-6)
- 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
- Arnau-Soler, A. et al. 2018. Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder. PLoS ONE 13(12), article number: e0209160. (10.1371/journal.pone.0209160)
- Owen, D. et al. 2018. Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. BMC Genomics 19(1), article number: 867. (10.1186/s12864-018-5292-7)
- Strawbridge, R. J. et al. 2018. Genetics of self-reported risk-taking behaviour, trans-ethnic consistency and relevance to brain gene expression. Translational Psychiatry 8(1), article number: 178. (10.1038/s41398-018-0236-1)
- 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)
- Mistry, S., Harrison, J., Smith, D. J., Escott-Price, V. and Zammit, S. 2018. The use of polygenic risk scores to identify phenotypes associated with genetic risk of schizophrenia: systematic review. Schizophrenia Research 197, pp. 2-8. (10.1016/j.schres.2017.10.037)
- Mistry, S., Harrison, J. R., Smith, D. J., Escott-Price, V. and Zammit, S. 2018. The use of polygenic risk scores to identify phenotypes associated with genetic risk of bipolar disorder and depression: A systematic review. Journal of Affective Disorders 234, pp. 148-155. (10.1016/j.jad.2018.02.005)
- 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)
- 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)
- Leonenko, G. et al. 2018. A data-driven investigation of relationships between bipolar psychotic symptoms and schizophrenia genome-wide significant genetic loci. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177(4), pp. 468-475. (10.1002/ajmg.b.32635)
- Wray, N. R. et al. 2018. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nature Genetics 50(5), pp. 668-681. (10.1038/s41588-018-0090-3)
- 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)
- Strawbridge, R. J. et al. 2018. Genome-wide analysis of self-reported risk-taking behaviour and cross-disorder genetic correlations in the UK Biobank cohort. Translational Psychiatry 8, article number: 39. (10.1038/s41398-017-0079-1)
- 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)
- Guerreiro, R. et al. 2018. Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurology 17(1), pp. 64-74. (10.1016/S1474-4422(17)30400-3)
2017
- Ward, J. et al. 2017. Genome-wide analysis in UK Biobank identifies four loci associated with mood instability and genetic correlation with MDD, anxiety disorder and schizophrenia. Translational Psychiatry 7, article number: 1264. (10.1038/s41398-017-0012-7)
- Rietschel, L. et al. 2017. Hair cortisol in twins: Heritability and genetic overlap with psychological variables and stress-system genes. Scientific Reports 7(1), article number: 15351. (10.1038/s41598-017-11852-3)
- Mistry, S., Zammit, S., Escott-Price, V., Jones, H. J. and Smith, D. J. 2017. Borderline personality and attention-deficit hyperactivity traits in childhood are associated with hypomanic features in early adulthood. Journal of affective disorders 221, pp. 246-253. (10.1016/j.jad.2017.06.039)
- 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)
- Escott-Price, V., Myers, A. J., Huentelman, M. and Hardy, J. 2017. Polygenic risk score analysis of pathologically confirmed Alzheimer's disease. Annals of Neurology 82(2), pp. 311-314. (10.1002/ana.24999)
- Leonenko, G. et al. 2017. Investigation of relationships between bipolar disorder phenotypes and genome-wide significant loci from PGC2 schizophrenia. European Neuropsychopharmacology 27(S3), pp. S383-S384. (10.1016/j.euroneuro.2016.09.416)
- Huang, K. et al. 2017. A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease. Nature Neuroscience 20(8), pp. 1052-1061. (10.1038/nn.4587)
- Escott-Price, V. and Jones, L. 2017. Genomic profiling and diagnostic biomarkers in Alzheimer's disease. The Lancet Neurology 16(8), pp. 582-583. (10.1016/S1474-4422(17)30202-8)
- 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)
- 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
- Summers, M., Smith, C., Maughan, T., Kaplan, R., Escott-Price, V. and Cheadle, J. P. 2017. BRAF and NRAS locus-specific variants have different outcomes on survival to colorectal cancer. Clinical Cancer Research 23(11), pp. 2742-2749. (10.1158/1078-0432.CCR-16-1541)
- McLaughlin, R. L. et al. 2017. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications 8, article number: 14774. (10.1038/ncomms14774)
- Hampel, H. et al. 2017. A precision medicine initiative for Alzheimer's disease: the road ahead to biomarker-guided integrative disease modeling. Climacteric 20(2), pp. 107-118. (10.1080/13697137.2017.1287866)
- Kun-Rodrigues, C. et al. 2017. Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiology of Aging 49, pp. 214.e13-214.e15. (10.1016/j.neurobiolaging.2016.08.023)
- Escott-Price, V., Shoai, M., Pither, R., Williams, J. and Hardy, J. 2017. Polygenic score prediction captures nearly all common genetic risk for Alzheimer's disease. Neurobiology of Aging 49, pp. 214.e7-214.e11. (10.1016/j.neurobiolaging.2016.07.018)
- 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)
- Lo, M. et al. 2017. Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. Nature Genetics 49, pp. 152-156. (10.1038/ng.3736)
- Morgan, A. et al. 2017. The correlation between inflammatory biomarkers and polygenic risk score in Alzheimer's Disease. Journal of Alzheimer's Disease 56(1), pp. 25-36. (10.3233/JAD-160889)
2016
- Lubbe, S. J. et al. 2016. Additional rare variant analysis in Parkinson?s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Human Molecular Genetics 25(24), pp. 5483-5489. (10.1093/hmg/ddw348)
- Lubbe, S. et al. 2016. Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. Neurobiology of Aging 48, pp. 222.e1-222.e7. (10.1016/j.neurobiolaging.2016.07.013)
- Hampel, H. et al. 2016. Precision medicine - the golden gate for detection, treatment and prevention of Alzheimer's disease. Journal of Prevention of Alzheimer's Disease 3(4), pp. 243-259. (10.14283/jpad.2016.112)
- Rees, E. et al. 2016. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry 73(9), pp. 963-969. (10.1001/jamapsychiatry.2016.1831)
- Pardinas, A. et al. 2016. Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. [Online]. bioRxiv. (10.1101/068593) Available at: http://dx.doi.org/10.1101/068593
- Smith, D. J. et al. 2016. Genome-wide analysis of over 106,000 individuals identifies 9 neuroticism-associated loci. Molecular Psychiatry 21, pp. 749-757. (10.1038/mp.2016.49)
- Mok, K. Y. et al. 2016. Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Lancet Neurology 15(6), pp. 585-596. (10.1016/S1474-4422(16)00071-5)
- Mehta, D. et al. 2016. Evidence for genetic overlap between schizophrenia and age at first birth in women. JAMA Psychiatry 73(5), pp. 497-505. (10.1001/jamapsychiatry.2016.0129)
- Han, J. et al. 2016. Gender differences in CNV burden do not confound schizophrenia CNV associations. Scientific Reports 6, article number: 25986. (10.1038/srep25986)
- Kirov, G. G. et al. 2016. Evaluation of cumulative cognitive deficits from electroconvulsive therapy. British Journal of Psychiatry 208(3), pp. 266-270. (10.1192/bjp.bp.114.158261)
- Franke, B. et al. 2016. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nature Neuroscience 19(3), pp. 420-431. (10.1038/nn.4228)
- Guerreiro, R. et al. 2016. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiology of Aging 38, article number: 214.e7–214.e10. (10.1016/j.neurobiolaging.2015.10.028)
- Jun, G. et al. 2016. A novel Alzheimer disease locus located near the gene encoding tau protein. Molecular Psychiatry 21, pp. 108-117. (10.1038/mp.2015.23)
- Lubbe, S. J. et al. 2016. Is the MC1R variant p.R160W associated with Parkinson's?. Annals of Neurology 79(1), pp. 159-161. (10.1002/ana.24527)
2015
- Escott-Price, V. et al. 2015. Common polygenic variation enhances risk prediction for Alzheimer's disease. Brain 138(12), pp. 3673-3684. (10.1093/brain/awv268)
- Escott-Price, V., Kirov, G., Rees, E., Isles, A. R., Owen, M. J. and O'Donovan, M. C. 2015. No evidence for enrichment in schizophrenia for common allelic associations at imprinted loci. PLoS ONE 10(12), pp. -., article number: e0144172. (10.1371/journal.pone.0144172)
- Ivanov, D. K., Escott-Price, V., Ziehm, M., Magwire, M. M., Mackay, T. F. C., Partridge, L. and Thornton, J. M. 2015. Longevity GWAS using the Drosophila Genetic Reference Panel. Journals of Gerontology, Series A 70(12), pp. 1470-1478. (10.1093/gerona/glv047)
- Lee, S. H. et al. 2015. New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. International Journal of Epidemiology 44(5), pp. 1706-1721. (10.1093/ije/dyv136)
- Vilhjálmsson, B. et al. 2015. Modeling linkage disequilibrium increases accuracy of polygenic risk scores. American Journal of Human Genetics 97(4), pp. 576-592. (10.1016/j.ajhg.2015.09.001)
- Lee, J. M. et al. 2015. Identification of genetic factors that modify clinical onset of Huntington's disease. Cell 162(3), pp. 516-526. (10.1016/j.cell.2015.07.003)
- Jones, L. et al. 2015. Convergent genetic and expression data implicate immunity in Alzheimer's disease. Alzheimer's and Dementia 11(6), pp. 658-671. (10.1016/j.jalz.2014.05.1757)
- Østergaard, S. D. et al. 2015. Associations between potentially modifiable risk factors and Alzheimer disease: A mendelian randomization study. PLOS MEDICINE 12(6), pp. e1001841., article number: e1001841. (10.1371/journal.pmed.1001841)
- Hosp, F. et al. 2015. Quantitative interaction proteomics of neurodegenerative disease proteins. Cell Reports 11(7), pp. 1134-46. (10.1016/j.celrep.2015.04.030)
- Nalls, M. A., Escott-Price, V., Williams, N. M., Lubbe, S., Keller, M. F., Morris, H. R. and Singleton, A. B. 2015. Genetic risk and age in Parkinson's disease: Continuum not stratum. Movement Disorders 30(6), pp. 850-854. (10.1002/mds.26192)
- Escott-Price, V. et al. 2015. Polygenic risk of Parkinson disease is correlated with disease age at onset. Annals of Neurology 77(4), pp. 582-591. (10.1002/ana.24335)
- Bulik-Sullivan, B. K. et al. 2015. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nature Genetics 47(3), pp. 291-295. (10.1038/ng.3211)
- Vivian-Griffiths, T. et al. 2015. Utilising machine-learning algorithms to uncover complex genetic interactions in schizophrenia [Conference Abstract]. Human Heredity 79(1), pp. 48-48., article number: A46. (10.1159/000381109)
- O'Dushlaine, C. et al. 2015. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nature Neuroscience 18(2), pp. 199-209. (10.1038/nn.3922)
2014
- Bras, J. et al. 2014. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Human Molecular Genetics 23(23), pp. 6139-6146. (10.1093/hmg/ddu334)
- Gusev, A. et al. 2014. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. American Journal of Human Genetics 95(5), pp. 535-552. (10.1016/j.ajhg.2014.10.004)
- Ripke, S. et al. 2014. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511(7510), pp. 421-427. (10.1038/nature13595)
- Niarchou, M., Zammit, S., Escott-Price, V., Owen, M. J. and van den Bree, M. B. 2014. Exploring the indirect effects of catechol-O-methyltransferase (COMT) genotype on psychotic experiences through cognitive function and anxiety disorders in a large birth cohort of children. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 165(5), pp. 410-420. (10.1002/ajmg.b.32245)
- Escott-Price, V. et al. 2014. Gene-wide analysis detects two new susceptibility genes for Alzheimer's Disease. PLoS ONE 9(6), article number: e94661. (10.1371/journal.pone.0094661)
- Smith, C. G. et al. 2014. Response. Journal of the National Cancer Institute 106(5), pp. dju087. (10.1093/jnci/dju087)
- Fogh, I. et al. 2014. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Human Molecular Genetics 23(8), pp. 2220-2231. (10.1093/hmg/ddt587)
- Escott-Price, V., Ghodsi, M. and Schmidt, K. M. 2014. How allele frequency and study design affect association test statistics with misrepresentation errors. Biostatistics 15(2), pp. 311-326. (10.1093/biostatistics/kxt048)
- Liu, G. et al. 2014. Cardiovascular disease contributes to Alzheimer's disease: evidence from large-scale genome-wide association studies. Neurobiology of Aging 35(4), pp. 786-92. (10.1016/j.neurobiolaging.2013.10.084)
2013
- van Scheltinga, A. F. T. et al. 2013. Schizophrenia genetic variants are not associated with intelligence. Psychological Medicine 43(12), pp. 2563-2570. (10.1017/S0033291713000196)
- Lambert, J. et al. 2013. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease [Letter]. Nature Genetics 45(12), pp. 1452-1458. (10.1038/ng.2802)
- Zammit, S. et al. 2013. A population-based study of genetic variation and psychotic experiences in adolescents. Schizophrenia Bulletin 40(6), pp. 1254-1262. (10.1093/schbul/sbt146)
- Lee, S. et al. 2013. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics 45(9), pp. 984-994. (10.1038/ng.2711)
- Walters, J. T. R. et al. 2013. The role of the major histocompatibility complex region in cognition and brain structure: a schizophrenia GWAS follow-up. American Journal of Psychiatry 170(8), pp. 877-885. (10.1176/appi.ajp.2013.12020226)
- Smith, C. et al. 2013. Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. Journal of the National Cancer Institute 105(16), pp. 1249-1253. (10.1093/jnci/djt183)
- Zou, F. et al. 2013. Linking protective GAB2 variants, increased cortical GAB2 expression and decreased Alzheimer's Disease pathology. PLoS ONE 8(5), article number: e64802. (10.1371/journal.pone.0064802)
- Terwisscha van Scheltinga, A. F. et al. 2013. Genetic schizophrenia risk variants jointly modulate total brain and white matter volume. Biological Psychiatry 73(6), pp. 525-531. (10.1016/j.biopsych.2012.08.017)
- Holmans, P. A. et al. 2013. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Human Molecular Genetics 22(5), pp. 1039-1049. (10.1093/hmg/dds492)
- Escott-Price, V. et al. 2013. Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. JAMA Neurology 70(10), pp. 1268-1276. (10.1001/jamaneurol.2013.448)
- 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
- Hollingworth, P. et al. 2012. Genome-wide association study of Alzheimer's disease with psychotic symptoms. Molecular Psychiatry 17(12), pp. 1316-1327. (10.1038/mp.2011.125)
- Eyre, S. et al. 2012. High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nature Genetics 44(12), pp. 1336-1340. (10.1038/ng.2462)
- Keller, M. F. et al. 2012. Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Human Molecular Genetics 21(22), pp. 4996-5009. (10.1093/hmg/dds335)
- Hamilton, G. et al. 2012. The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159B(6), pp. 696-709. (10.1002/ajmg.b.32073)
- Shi, H. et al. 2012. Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS). Neurobiology of Aging 33(8), article number: 1849.e5. (10.1016/j.neurobiolaging.2012.02.014)
- Hamilton, G. et al. 2012. Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus. Neurobiology of Aging 33(8), article number: 1848.e1. (10.1016/j.neurobiolaging.2012.02.005)
- Escott-Price, V., Schmidt, K. M., Vedernikov, A., Owen, M. J., Craddock, N. J., Holmans, P. A. and O'Donovan, M. C. 2012. Permutation-based approaches do not adequately allow for linkage disequilibrium in gene-wide multi-locus association analysis. European Journal of Human Genetics 20(8), pp. 890-896. (10.1038/ejhg.2012.8)
- Derks, E. M. et al. 2012. Investigation of the genetic association between quantitative measures of psychosis and schizophrenia: A polygenic risk score analysis. PLoS ONE 7(6), article number: e37852. (10.1371/journal.pone.0037852)
- Hudson, G. et al. 2012. No consistent evidence for association between mtDNA variants and Alzheimer disease. Neurology 78(14), pp. 1038-1042. (10.1212/WNL.0b013e31824e8f1d)
- Keller, M. C. et al. 2012. Runs of homozygosity implicate autozygosity as a schizophrenia risk factor. Plos Genetics 8(4), article number: e1002656. (10.1371/journal.pgen.1002656)
- Richards, A. et al. 2012. Schizophrenia susceptibility alleles are enriched for alleles that affect gene expression in adult human brain. Molecular Psychiatry 17(2), pp. 193-201. (10.1038/mp.2011.11)
- Gerrish, A. et al. 2012. The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's Disease. Journal of Alzheimer's Disease 28(2), pp. 377-387. (10.3233/JAD-2011-110824)
- Forstbauer, L. M. et al. 2012. Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. European Journal of Human Genetics 20(3), pp. 326-332. (10.1038/ejhg.2011.185)
2011
- Rees, E., Escott-Price, V., Owen, M. J., O'Donovan, M. C. and Kirov, G. 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)
- Sklar, P. et al. 2011. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4 [Letter]. Nature Genetics 43(10), pp. 977-983. (10.1038/ng.943)
- Ripke, S. et al. 2011. Genome-wide association study identifies five new schizophrenia loci [Letter]. Nature Genetics 43(10), pp. 969-976. (10.1038/ng.940)
- Escott-Price, V. et al. 2011. An examination of single nucleotide polymorphism selection prioritization strategies for tests of gene-gene interaction. Biological Psychiatry 70(2), pp. 198-203. (10.1016/j.biopsych.2011.01.034)
- Hollingworth, P. et al. 2011. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics 43(5), pp. 429-435. (10.1038/ng.803)
- Williams, H. J. et al. 2011. Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder. Molecular Psychiatry 16(4), pp. 429-441. (10.1038/mp.2010.36)
- Reilly, M. P. et al. 2011. Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. The Lancet 377(9763), pp. 383-392. (10.1016/S0140-6736(10)61996-4)
- Williams, H. J. et al. 2011. Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. Human Molecular Genetics 20(2), pp. 387-391. (10.1093/hmg/ddq471)
- Hamshere, M. L. et al. 2011. Polygenic dissection of the bipolar phenotype. British Journal of Psychiatry 198(4), pp. 284-288. (10.1192/bjp.bp.110.087866)
- Sims, R. et al. 2011. No evidence that extended tracts of homozygosity are associated with Alzheimer's disease. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156(7), pp. 764-771. (10.1002/ajmg.b.31216)
- Williams, H. J., Escott-Price, V., Smith, R. L., Dwyer, S. L., Russo, G., Owen, M. J. and O'Donovan, M. C. 2011. Association between TCF4 and schizophrenia does not exert its effect by common nonsynonymous variation or by influencing cis-acting regulation of mRNA expression in adult human brain. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156(7), pp. 781-784. (10.1002/ajmg.b.31219)
- Escott-Price, V., O'Dushlaine, C., Purcell, S., Craddock, N. J., Holmans, P. A. and O'Donovan, M. C. 2011. Evaluation of an approximation method for assessment of overall significance of multiple-dependent tests in a genomewide association study. Genetic Epidemiology 35(8), pp. 861-866. (10.1002/gepi.20636)
- Donohoe, G. et al. 2011. A neuropsychological investigation of the genome wide associated schizophrenia risk variant NRGN rs12807809 [Letter]. Schizophrenia Research 125(2-3), pp. 304-306. (10.1016/j.schres.2010.10.019)
2010
- Carroll, L. S. et al. 2010. Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha. Molecular Psychiatry 15(11), pp. 1101-1111. (10.1038/mp.2009.96)
- Craddock, N. J. et al. 2010. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype [Corrigendum]. Molecular Psychiatry 15(11), pp. 1121-1121. (10.1038/mp.2010.62)
- Jones, L. et al. 2010. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS ONE 5(11), article number: e13950. (10.1371/journal.pone.0013950)
- Green, E. K. et al. 2010. The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia. Molecular Psychiatry 15(10), pp. 1016-1022. (10.1038/mp.2009.49)
- Escott-Price, V. et al. 2010. Genetic differences between five European populations. Human Heredity 70(2), pp. 141-149. (10.1159/000313854)
- Walters, J. T. R. et al. 2010. Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia. Archives of General Psychiatry 67(7), pp. 692-700. (10.1001/archgenpsychiatry.2010.81)
- Craddock, N. J. et al. 2010. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. Molecular Psychiatry 15(2), pp. 146-153. (10.1038/mp.2008.66)
- Green, E. K. et al. 2010. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153B(7), pp. 1347-1349. (10.1002/ajmg.b.31108)
- Dwyer, S. L., Williams, H., Holmans, P. A., Escott-Price, V., Craddock, N. J., Owen, M. J. and O'Donovan, M. C. 2010. No evidence that rare coding variants in ZNF804A confer risk of schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153B(8), pp. 1411-1416. (10.1002/ajmg.b.31117)
- Jones, R. M., Hansen, L., Escott-Price, V., Kingdon, D. and Turkington, D. 2010. The relationship between self-esteem and psychotic symptoms in schizophrenia: A longitudinal study. Psychosis 2(3), pp. 218-226. (10.1080/17522431003602430)
- Liu, Y. et al. 2010. Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder [Letter]. Molecular Psychiatry 16(1), pp. 2-4. (10.1038/mp.2009.107)
- O'Dushlaine, C. T. et al. 2010. Population structure and genome-wide patterns of variation in Ireland and Britain. European Journal of Human Genetics 18(11), pp. 1248-1254. (10.1038/ejhg.2010.87)
2009
- Harold, D. et al. 2009. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease [Letter]. Nature Genetics 41(10), pp. 1088-1093. (10.1038/ng.440)
- Donohoe, G. et al. 2009. Influence of NOS1 on verbal intelligence and working memory in both patients with schizophrenia and healthy control subjects. Archives of General Psychiatry 66(10), pp. 1045-1054. (10.1001/archgenpsychiatry.2009.139)
- Dallosso, A. R. et al. 2009. The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations. Human Mutation 30(10), pp. 1412-1418. (10.1002/humu.21089)
- Orozco, G. et al. 2009. Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23. Human Molecular Genetics 18(14), pp. 2693-2699. (10.1093/hmg/ddp193)
- Escott-Price, V. et al. 2009. Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. Molecular Psychiatry 14(3), pp. 252-260. (10.1038/mp.2008.133)
- O'Donovan, M. C. et al. 2009. Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2. Molecular Psychiatry 14(1), pp. 30-36. (10.1038/mp.2008.108)
- Hamshere, M. L. et al. 2009. Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. British Journal of Psychiatry 195(1), pp. 23-29. (10.1192/bjp.bp.108.061424)
- Harold, D. et al. 2009. Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease [Corrigendum]. Nature Genetics 41(10), pp. 1156. (10.1038/ng1009-1156d)
- Gerrish, A., Williams, H. J., Escott-Price, V., Owen, M. J., O'Donovan, M. C. and Williams, N. M. 2009. An examination of MUTED as a schizophrenia susceptibility gene [Letter]. Schizophrenia Research 107(1), pp. 110-111. (10.1016/j.schres.2008.08.011)
- Sims, R. et al. 2009. Evidence that variation in the oligodendrocyte lineage transcription factor 2 (OLIG2) gene is associated with psychosis in Alzheimer's disease. Neuroscience Letters 461(1), pp. 54-59. (10.1016/j.neulet.2009.05.051)
2008
- Barton, A. et al. 2008. Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13. Nature Genetics 40(10), pp. 1156-1159. (10.1038/ng.218)
- Abraham, R. et al. 2008. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Medical Genomics 1(1), article number: 44. (10.1186/1755-8794-1-44)
- Escott-Price, V. and Schmidt, K. M. 2008. On multiple-testing correction in genome-wide association studies. Genetic Epidemiology 32(6), pp. 567-573. (10.1002/gepi.20331)
- Ferreira, M. A. R. et al. 2008. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nature Genetics 40(9), pp. 1056-1058. (10.1038/ng.209)
- Barton, A. et al. 2008. Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility. Human Molecular Genetics 17(15), pp. 2274-2279. (10.1093/hmg/ddn128)
- Loos, R. J. F. et al. 2008. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nature Genetics 40(6), pp. 768-775. (10.1038/ng.140)
- Fisher, S. A. et al. 2008. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nature Genetics 40(6), pp. 710-712. (10.1038/ng.145)
- Williams, N. M. et al. 2008. Strong evidence that GNB1L is associated with schizophrenia. Human Molecular Genetics 17(4), pp. 555-566. (10.1093/hmg/ddm330)
- Buxbaum, J. D. et al. 2008. Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene. Molecular psychiatry 13, pp. 162-172. (10.1038/sj.mp.4001991)
- Azzopardi, D. L. et al. 2008. Multiple rare nonsynonymous variants in the 'adenomatous polyposis coli' gene predispose to colorectal adenomas. Cancer Research 68(2), pp. 358-363. (10.1158/0008-5472.CAN-07-5733)
- Kirov, G. et al. 2008. A genome-wide association study in 574 schizophrenia trios using DNA pooling. Molecular Psychiatry 14(8), pp. 796-803. (10.1038/mp.2008.33)
- Escott-Price, V. et al. 2008. Sex differences in symptom patterns of recurrent major depression in siblings. Depression and Anxiety 25(6), pp. 527-534. (10.1002/da.20372)
- Dallosso, A. R. et al. 2008. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 57(9), pp. 1252-1255. (10.1136/gut.2007.145748)
- O'Donovan, M. C. et al. 2008. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nature Genetics 40(9), pp. 1053-1055. (10.1038/ng.201)
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.
- Segurado, R., Hamshere, M. L., Glaser, B., Nikolov, I., Escott-Price, V. and Holmans, P. A. 2007. Combining linkage data sets for meta-analysis and mega-analysis: the GAW15 rheumatoid arthritis data set [Conference Proceedings]. BMC Proceedings 1(S1), pp. S104-S104.
- Hamshere, M. L., Segurado, R., Escott-Price, V., Nikolov, I., Glaser, B. and Holmans, P. A. 2007. Large-scale linkage analysis of 1302 affected relative pairs with rheumatoid arthritis [Conference Proceedings]. BMC Proceedings 1(S1), pp. S100-S100.
- Nejentsev, S. et al. 2007. Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature 450(7171), pp. 887-892. (10.1038/nature06406)
- Thomson, W. et al. 2007. Rheumatoid arthritis association at 6q23. Nature Genetics 39(12), pp. 1431-1433. (10.1038/ng.2007.32)
- Williams, H. et al. 2007. Association analysis of the glial cell line-derived neurotrophic factor (GDNF) gene in schizophrenia. Schizophrenia Research 97(1-3), pp. 271-276. (10.1016/j.schres.2007.09.004)
- Morgan, A. et al. 2007. Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144B(6), pp. 762-770. (10.1002/ajmg.b.30509)
- Norton, N. et al. 2007. Association analysis of AKT1 and schizophrenia in a UK case control sample. Schizophrenia Research 93(1-3), pp. 58-65. (10.1016/j.schres.2007.02.006)
- Burton, P. R. et al. 2007. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447(7145), pp. 661-678. (10.1038/nature05911)
- Harold, D. et al. 2007. Interaction between theADAM12 andSH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144B(4), pp. 448-452. (10.1002/ajmg.b.30456)
- Escott-Price, V. and O'Donovan, M. C. 2007. Detailed analysis of the relative power of direct and indirect association studies and the implications for their interpretation. Human Heredity 64(1), pp. 63-73. (10.1159/000101424)
- O'Donovan, M. C. et al. 2007. Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia [Conference Abstract]. Schizophrenia bulletin 33(2), pp. 311-312. (10.1093/schbul/sbm004)
- Morgan, A. et al. 2007. Association analysis of 528 intra-genic SNPs in a region of chromosome 10 linked to late onset Alzheimer's disease. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147B(6), pp. 727-731. (10.1002/ajmg.b.30670)
- Escott-Price, V. et al. 2007. Interrelationship of childhood trauma, neuroticism, and depressive phenotype. Depression and Anxiety 24(3), pp. 163-168. (10.1002/da.20216)
2006
- Harold, D. et al. 2006. Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Molecular Psychiatry 11(12), pp. 1085-91. (10.1038/sj.mp.4001904)
- Glaser, B. et al. 2006. Analysis of ProDH, COMT and ZDHHC8 risk variants does not support individual or interactive effects on schizophrenia susceptibility. Schizophrenia Research 87(1-3), pp. 21. (10.1016/j.schres.2006.05.024)
- Hollingworth, P. et al. 2006. Four Components Describe Behavioral Symptoms in 1,120 Individuals with Late-Onset Alzheimer's Disease. Journal of the American Geriatrics Society 54(9), pp. 1348-1354. (10.1111/j.1532-5415.2006.00854.x)
- Georgieva, L. et al. 2006. Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia. Proceedings of the National Academy of Sciences of the United States of America (PNAS) ISSN 1091-6490 103(33), pp. 12469-12474. (10.1073/pnas.0603029103)
- Escott-Price, V., Broadley, A., Korszun, A., Abdelaal, E., Deanfield, J. and Frenneaux, M. 2006. Metyrapone improves endothelial dysfunction in patients with treated depression. Journal of the American College of Cardiology 48(1), pp. 170-175.
- Jones, L. et al. 2006. Assessment of the relationship between pre-chip and post-chip quality measures for Affymetrix GeneChip expression data. BioMed Central Bioinformatics 7(1), article number: 211. (10.1186/1471-2105-7-211)
- Escott-Price, V., Craddock, N. J., Holmans, P. A., Owen, M. J. and O'Donovan, M. C. 2006. Effects of differential genotyping error rate on the Type 1 error probability of case-control studies. Human heredity 61(1), pp. 55-64. (10.1159/000092553)
- Kirov, G., Nikolov, I., Georgieva, L., Escott-Price, V., Owen, M. J. and O'Donovan, M. C. 2006. Pooled DNA genotyping on Affymetrix SNP genotyping arrays. BMC Genomics 7(1), pp. 27-37. (10.1186/1471-2164-7-27)
- Escott-Price, V. and Schmidt, K. M. 2006. Susceptibility of Biallelic Haplotype and Genotype Frequencies to Genotyping Error. Biometrics 62(4), pp. 1116-1123. (10.1111/j.1541-0420.2006.00563.x)
- Escott-Price, V. and Schmidt, K. M. 2006. Individual SNP Allele Reconstruction from Informative Markers Selected by a Non-Linear Gauss-Type Algorithm. Human Heredity 62(2), pp. 97-106. (10.1159/000096097)
- Peirce, T. R. et al. 2006. Convergent evidence for 2',3'-cyclic nucleotide 3'-phosphodiesterase as a possible susceptibility gene for schizophrenia. Archives of general psychiatry 63(1), pp. 18-24. (10.1001/archpsyc.63.1.18)
- Peirce, T. et al. 2006. Convergent evidence for 2 ',3 '-cyclic nucleotide 3 '-phosphodiesterase as a possible susceptibility gene for schizophrenia. Archives of General Psychiatry 63(1), pp. 18-24.
- Norton, N. et al. 2006. Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141B(1), pp. 96-101. (10.1002/ajmg.b.30236)
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)
- Broadley, A. J. et al. 2005. Inhibition of cortisol production with metyrapone prevents mental stress-induced endothelial dysfunction and baroreflex impairment. Journal of the American College of Cardiology 46(2), pp. 344-350. (10.1016/j.jacc.2005.03.068)
- Broadley, A. J., Frenneaux, M. P., Escott-Price, V., Jones, C. J. and Korszun, A. 2005. Baroreflex sensitivity is reduced in depression. Psychosomatic Medicine 67(4), pp. 648-651.
- Turic, D. et al. 2005. A family based study implicates solute carrier family 1-member 3 (SLC1A3) gene in attention-deficit/hyperactivity disorder. Biological psychiatry 57(11), pp. 1461-1466. (10.1016/j.biopsych.2005.03.025)
- Bray, N. J., Preece, A. C., Williams, N. M., Escott-Price, V., Buckland, P. R., Owen, M. J. and O'Donovan, M. C. 2005. Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression. Human Molecular Genetics 14(14), pp. 1947-1954. (10.1093/hmg/ddi199)
- Cope, N. A. et al. 2005. Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. American Journal of Human Genetics 76(4), pp. 581-591. (10.1086/429131)
- Kirov, G., Tredget, J., Dunn, E., Escott-Price, V., Beer, R. and Khalid, N. 2005. Underpowered repetitive transcranial magnetic stimulation might not be an effective antidepressant treatment. Journal of Clinical Psychiatry 66(4), pp. 543.
- Escott-Price, V., Norton, N., Williams, N. M., Holmans, P. A., Owen, M. J. and O'Donovan, M. C. 2005. Streamlined analysis of pooled genotype data in SNP-based association studies. Genetic Epidemiology 28(3), pp. 273-282. (10.1002/gepi.20062)
- Cope, N. A. et al. 2005. No support for association between dyslexia susceptibility 1 candidate 1 and developmental dyslexia. Molecular Psychiatry 10(3), pp. 237-238. (10.1038/sj.mp.4001596)
- Escott-Price, V., Holmans, P. A., Schmidt, K. M. and Craddock, N. J. 2005. Design of Case-controls Studies with Unscreened Controls. Annals of Human Genetics 69(5), pp. 566-576. (10.1111/j.1529-8817.2005.00175.x)
2004
- Bray, N. J. et al. 2004. Allelic variation in the expression of neuropsychiatric candidate genes [Conference Abstract]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 130B(1), pp. 25-25.
- Bray, N. J., Jehu, L., Escott-Price, V., Buckland, P. R., Williams, J., Owen, M. J. and O'Donovan, M. C. 2004. Allelic expression of APOE in brain [Conference Abstract]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 130B(1), pp. 61-61.
- Norton, N. et al. 2004. Interaction between neuregulin 1 and its receptor ERBB4 increases susceptibility to schizophrenia [Conference Abstract]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 130B(1), pp. 18-18.
- Bray, N. J., Jehu, L., Escott-Price, V., Buckland, P. R., Owen, M. J., Williams, J. and O'Donovan, M. C. 2004. P4-101 Allelic expression of APOE in brain [Conference Abstract]. Neurobiology of Aging 25, pp. S503-S503. (10.1016/S0197-4580(04)81659-2)
- Korszun, A. et al. 2004. Familiarity of symptom dimensions in depression. Archives of General Psychiatry 61(5), pp. 468-474. (10.1001/archpsyc.61.5.468)
- Williams, N. M. et al. 2004. Identification in 2 independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1). Archives of General Psychiatry 61(4), pp. 336-344. (10.1001/archpsyc.61.4.336)
- Williams, N. M. et al. 2004. Identification in two independent samples of a novel schizophrenia risk haplotype of the dystobrevin binding protein gene (DTNBP1). Archives of general psychiatry 61(4), pp. 336-344. (10.1001/archpsyc.61.4.336)
2003
- Harold, D. et al. 2003. Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease. Human Genetics 113(3), pp. 258-267. (10.1007/s00439-003-0960-2)
- Escott-Price, V. and Schmidt, K. M. 2003. Approximate projectors in singular spectrum analysis. SIAM Journal on Matrix Analysis and Applications (SIMAX) 24(4), pp. 932-942. (10.1137/S0895479801398967)
- Escott-Price, V. and Zhigljavsky, A. 2003. An Algorithm Based on Singular Spectrum Analysis for Change-Point Detection. Communications in Statistics - Simulation and Computation 32(2), pp. 319-352. (10.1081/SAC-120017494)
Teaching
MSc in Biostatistics and Bioinformatics: “Genetic Epidemiology: Association Studies” Module Leader.
My main research interest is to deploy the new opportunities afforded by technological advances and large sample sizes in order to contribute to identification of new risk genes and biological pathways for psychiatric and other disorders, and to undertake integrative analyses to provide additional biological meaning to the basic genetic data. As a member of several international consortia, we analyse terabytes of genome/exome/sequencing data for cohorts of tens of thousands of individuals from different populations.
Being a member International Genomics of Alzheimer's Project (IGAP) consortium, we processed and analysed genome-wide data which resulted in the discovery of 11 new susceptibility loci for Alzheimer's disease. Further analysis of this data, with the approximate gene-based analysis, which we developed in 2011 in Cardiff, lead to the discovery of two additional Alzheimer's disease susceptibility genes.
My most recent research is focused around evaluation of genetic risk associated with different aspects of psychiatric and neurological diseases. In our recent work we have investigated the polygenic architecture of Alzheimer's and Parkinson’s diseases and have also explored the potential relationship between an individual’s polygenic risk score and the risk of the disease.