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
2021
- 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)
- Escott-Price, V. and Schmidt, K. M. 2021. Challenges of adjusting Single-Nucleotide Polymorphism effect sizes for linkage disequilibrium. Human Heredity (10.1159/000513303)
- 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)
- Lubbe, S. J.et al. 2021. Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk. Human Molecular Genetics, article number: ddaa273. (10.1093/hmg/ddaa273)
- Harwood, J.et al. 2021. Defining functional variants associated with Alzheimer's disease in the induced immune response. Brain Communications
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.et al. 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.et al. 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)
- Ramagopalan, S. V.et al. 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)
- 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)
- 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)
- Swaden 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)
- Richards, A.et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46(2), pp. -. (10.1093/schbul/sbz061)
- Harrison, J. R.et al. 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)
- Amare, A. T.et al. 2020. Association of polygenic score for major depression with response to lithium in patients with bipolar disorder. Molecular Psychiatry (10.1038/s41380-020-0689-5)
- 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)
- 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)
- Summers, M. G.et al. 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)
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.et al. 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.et al. 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)
- 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)
- Escott-Price, V.et al. 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)
- 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.et al. 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.et al. 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.et al. 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.et al. 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.et al. 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.et al. 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.et al. 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. bioRxiv
- Summers, M.et al. 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)
- 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)
- Escott-Price, V.et al. 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)
- 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. bioRxiv, pp. -. (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.et al. 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.et al. 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.et al. 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.et al. 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)
- 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)
- 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)
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)
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2012
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2011
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2010
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2009
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2008
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2007
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2006
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2005
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2004
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2003
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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.