Professor Valentina Escott-Price
Professor, Dementia Research Institute
- Email:
- escottpricev@cardiff.ac.uk
- Telephone:
- +44 (0)29 2068 8429
- Location:
- 1.03 - Office D, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ
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
- 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.
2019
- 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)
- 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)
- Stahl, E. A.et al. 2019. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nature Genetics 51(5), pp. 793-803. (10.1038/s41588-019-0397-8)
- 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)
- 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, pp. 223 e1-223 e10. (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)
- 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)
- Gray, V.et al. 2019. Pattern recognition receptor polymorphisms as predictors of oxaliplatin benefit in colorectal cancer. JNCI: Journal of the National Cancer Institute (10.1093/jnci/djy215)
- Escott-Price, V.et al. 2019. Genetic liability to schizophrenia is negatively associated with educational attainment in UK Biobank. Molecular Psychiatry (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)
- Richards, A.et al. 2019. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin
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)
- Crawford, K.et al. 2018. Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank. Journal of Medical Genetics (10.1136/jmedgenet-2018-105477)
- 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)
- 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)
- 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 bipolar disorder and depression: A systematic review. Journal of Affective Disorders 234, pp. 148-155. (10.1016/j.jad.2018.02.005)
- 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., article number: e16. (10.1016/j.cell.2018.05.046)
- 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)
- 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)
- Escott-Price, V.et al. 2018. Polygenic risk for schizophrenia and season of birth within the UK Biobank cohort. Psychological Medicine (10.1017/S0033291718000454)
- Pardinas, A.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. The 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)
- 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)
- 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)
- 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.et al. 2017. Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK Biobank subjects. Biological Psychiatry 82(2), pp. 103-110. (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
- 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)
- 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)
- 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)
- Lo, M.et al. 2017. Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. Nature Genetics 49(1), 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(1), pp. 27-35. (10.1038/ng.3725)
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)
- 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 (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(6), pp. 749-757. (10.1038/mp.2016.49)
- 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)
- 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)
- Mok, K. Y.et al. 2016. Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. The Lancet Neurology 15(6), pp. 585-596. (10.1016/S1474-4422(16)00071-5)
- Kirov, 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)
- 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)
- 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.
2015
- Escott-Price, V.et al. 2015. No evidence for enrichment in schizophrenia for common allelic associations at imprinted loci. Plos One 10(12), article number: e0144172. (10.1371/journal.pone.0144172)
- Ivanov, D. K.et al. 2015. Longevity GWAS using the Drosophila Genetic Reference Panel. The Journals of Gerontology. Series A: Biological Sciences and Medical Sciences 70(12), pp. 1470-1478. (10.1093/gerona/glv047)
- 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)
- 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)
- Østergaard, S. D.et al. 2015. Associations between potentially modifiable risk factors and Alzheimer disease: A mendelian randomization study. Plos Medicine 12(6), article number: e1001841. (10.1371/journal.pmed.1001841)
- 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)
- Hosp, F.et al. 2015. Quantitative interaction proteomics of neurodegenerative disease proteins. Cell Reports 11(7), pp. 1134-1146. (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)
- Jun, G.et al. 2015. A novel Alzheimer disease locus located near the gene encoding tau protein. Molecular Psychiatry 21, pp. 108-117. (10.1038/mp.2015.23)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Escott-Price, V.et al. 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.et al. 2011. De novo rates and selection of schizophrenia-associated copy number variants. Biological Psychiatry 70(12), pp. 1109-1114. (10.1016/j.biopsych.2011.07.011)
- 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)
- 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)
- 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.et al. 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.et al. 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)
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2007
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2006
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2004
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2003
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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.