![Valentina Escott-Price](https://profiles-cardiff.imgix.net/attachments/681?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Professor Valentina Escott-Price
Teams and roles for Valentina Escott-Price
Professor, Dementia Research Institute
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
Publication
2025
- Barnett, E. et al., 2025. A novel method to disentangle tightly linked risk and resilience genes for brain disorders: application to Alzheimer's disease. [Online].medRxiz: openRxiv. (10.1101/2025.02.26.25322962)Available at: https://doi.org/10.1101/2025.02.26.25322962.
- Bellou, E. et al. 2025. Benchmarking Alzheimer's disease prediction: personalised risk assessment using polygenic risk scores across various methodologies and genome-wide studies. Alzheimer's Research and Therapy 17 (1) 6. (10.1186/s13195-024-01664-9)
- Bracher-Smith, M. and Escott-Price, V. 2025. Decoding the genomic symphony: unravelling brain disorders through data integration and machine learning. Molecular Psychiatry 30 , pp.5914-5925. (10.1038/s41380-025-03330-4)
- Bracher-Smith, M. et al. 2025. Machine learning in Alzheimer’s disease genetics. Nature Communications 16 (1) 6726. (10.1038/s41467-025-61650-z)
- Chandler, H. L. et al. 2025. Non‐APOE variants predominately expressed in smooth muscle cells contribute to the influence of Alzheimer's disease genetic risk on white matter hyperintensities. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 21 (2) e14455. (10.1002/alz.14455)
- Graham, A. et al., 2025. Human longevity and Alzheimer’s disease variants act via microglia and oligodendrocyte gene networks. Brain 148 (3), pp.969-984. awae339. (10.1093/brain/awae339)
- Hardy, J. and Escott-Price, V. 2025. The genetics of neurodegenerative diseases is the genetics of age-related damage clearance failure. Molecular Psychiatry 30 , pp.2748-2753. (10.1038/s41380-025-02911-7)
- Harrison, J. R. et al. 2025. White matter microstructure in mid- to late adulthood is influenced by pathway-stratified polygenic risk for Alzheimer’s disease. Frontiers in Neuroscience 19 1638503. (10.3389/fnins.2025.1638503)
- Hou, J. et al., 2025. Meta‐analysis of transcriptomic studies of blood and six brain regions identifies a consensus of 15 cross‐tissue mechanisms in Alzheimer's disease and suggests an origin of cross‐study heterogeneity. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 198 (4) e33019. (10.1002/ajmg.b.33019)
- Kirov, G. et al. 2025. Risk of dementia after electroconvulsive therapy: a cohort study on the population of Wales. Acta Psychiatrica Scandinavica 152 (4), pp.270-277. (10.1111/acps.70005)
- Maguire, E. et al. 2025. Modeling common Alzheimer’s disease with high and low polygenic risk in human iPSC: A large-scale research resource. Stem Cell Reports 20 (8) 102570. (10.1016/j.stemcr.2025.102570)
- Nicolas, A. et al., 2025. Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations. Nature Genetics 57 , pp.1598-1610. (10.1038/s41588-025-02227-w)
- O'Connell, K. S. et al., 2025. Genomics yields biological and phenotypic insights into bipolar disorder. Nature 639 , pp.968-975. (10.1038/s41586-024-08468-9)
- Raykov, P. P. et al., 2025. Complementary MR measures of white matter and their relation to cardiovascular health and cognition. Scientific Reports 15 (1) 28890. (10.1038/s41598-025-13610-2)
- Schalkamp, A. et al. 2025. Wearables-derived risk score for unintrusive detection of α-synuclein aggregation or dopaminergic deficit. EBioMedicine 117 105782. (10.1016/j.ebiom.2025.105782)
- Shafieinouri, M. et al., 2025. Gut-brain nexus: Mapping multimodal links to neurodegeneration at biobank scale. Science Advances 11 (35) eadu2937. (10.1126/sciadv.adu2937)
- Simmonds, E. et al. 2025. Dementia risk due to traumatic brain injury in subtypes of dementia in the Welsh population. Neurology 105 (3) e213866. (10.1212/wnl.0000000000213866)
- Simmonds, E. et al. 2025. Sleep disturbances as risk factors for neurodegeneration later in life. npj Dementia 1 6. (10.1038/s44400-025-00008-0)
- Smart, S. E. et al. 2025. The role of SLC39A8.p.( Ala391Thr ) in schizophrenia symptom severity and cognitive ability: cross‐sectional studies of schizophrenia and the general UK population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 198 (7), pp.135-146. (10.1002/ajmg.b.33037)
- Thomassen, J. et al., 2025. APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease.. [Online].medRxiv: openRxiv. (10.1101/2025.05.07.25327065)Available at: https://doi.org/10.1101/2025.05.07.25327065.
- Wills, C. et al. 2025. Relationship between inherited genetic variation and survival from colorectal cancer stratified by tumour location. Scientific Reports 15 2423. (10.1038/s41598-024-77870-0)
2024
- Caseras, X. et al. 2024. Common risk alleles for schizophrenia within the major histocompatibility complex predict white matter microstructure. Translational Psychiatry 14 194. (10.1038/s41398-024-02910-2)
- Ibanez, K. et al., 2024. Increased frequency of repeat expansion mutations across different populations. Nature Medicine 30 , pp.3357-3368. (10.1038/s41591-024-03190-5)
- Legge, S. E. et al. 2024. Genetic and phenotypic features of Schizophrenia in the UK Biobank. JAMA Psychiatry 81 , pp.681-690. (10.1001/jamapsychiatry.2024.0200)
- Leonenko, G. et al. 2024. Dementias Platform UK: Bringing genetics into life. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 20 (5), pp.3281-3289. (10.1002/alz.13782)
- Manzoni, C. et al., 2024. Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia. American Journal of Human Genetics 111 (7), pp.1316-1329. (10.1016/j.ajhg.2024.05.017)
- Martin Flores, N. et al., 2024. Downregulation of Dickkopf-3, a Wnt antagonist elevated in Alzheimer’s disease, restores synapse integrity and memory in a disease mouse model. eLife 12 RP89453. (10.7554/elife.89453)
- Shitomi-Jones, L. M. et al. 2024. Exploration of first onsets of mania, schizophrenia spectrum disorders and major depressive disorder in perimenopause. nature mental health 2 (10), pp.1161-1168. (10.1038/s44220-024-00292-4)
- Simmonds, E. et al. 2024. Chromosome X-wide association study in case control studies of pathologically confirmed Alzheimer’s disease in a European population. Translational Psychiatry 14 (1) 358. (10.1038/s41398-024-03058-9)
- Stevenson-Hoare, J. et al. 2024. Severe psychiatric disorders are associated with increased risk of dementia. BMJ Mental Health 27 (1) e301097. (10.1136/bmjment-2024-301097)
- Trastulla, L. et al., 2024. Distinct genetic liability profiles define clinically relevant patient strata across common diseases. Nature Communications 15 5534. (10.1038/s41467-024-49338-2)
- Woolway, G. E. et al., 2024. Assessing the validity of a self-reported clinical diagnosis of schizophrenia. Schizophrenia 10 (1) 99. (10.1038/s41537-024-00526-5)
- Zhao, Y. et al., 2024. Transcriptomics and weighted protein network analyses of the LRRK2 protein interactome reveal distinct molecular signatures for sporadic and LRRK2 Parkinson’s Disease. npj Parkinson's Disease 10 (1) 144. (10.1038/s41531-024-00761-8)
2023
- Allardyce, J. et al. 2023. Specificity of polygenic signatures across symptom dimensions in bipolar disorder: an analysis of UK Bipolar Disorder Research Network data. The Lancet Psychiatry 10 (8), pp.623-631. (10.1016/S2215-0366(23)00186-4)
- 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)
- Caseras, X. et al. 2023. Copy Number Variants increasing risk for schizophrenia: shared and distinct effects on brain morphometry and cognitive performance. Biological Psychiatry: Global Open Science 3 (4), pp.902-911. (10.1016/j.bpsgos.2022.10.006)
- Donnelly, N. et al., 2023. Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach. Molecular Autism 14 (1) 19. (10.1186/s13229-023-00549-2)
- Escott-Price, V. and Schmidt, K. M. 2023. Pitfalls of predicting age related traits by polygenic risk scores. Annals of Human Genetics 87 (5), pp.203-209. (10.1111/ahg.12520)
- 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 e069243. (10.1136/bmjopen-2022-069243)
- Harrison, J. R. et al. 2023. Pathway-specific polygenic scores for Alzheimer's disease are associated with changes in brain structure in younger and older adults. Brain Communications 5 (5) fcad229. (10.1093/braincomms/fcad229)
- Lancaster, T. et al. 2023. Proof-of-concept recall-by-genotype study of extremely low and high Alzheimer’s polygenic risk reveals autobiographical deficits and cingulate cortex correlates. Alzheimer's Research and Therapy 15 213. (10.1186/s13195-023-01362-y)
- Le Guen, Y. et al., 2023. Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes. Proceedings of the National Academy of Sciences 120 (36) e2302720120. (10.1073/pnas.2302720120)
- Petrican, R. et al. 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)
- Simmonds, E. et al. 2023. What does heritability of Alzheimer’s disease represent?. PLoS ONE 18 (4) e0281440. (10.1371/journal.pone.0281440)
- 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)
- 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)
- Stevenson-Hoare, J. , Leonenko, G. and Escott-Price, V. 2023. Comparison of long-term effects of metformin on longevity between people with type 2 diabetes and matched non-diabetic controls. BMC Public Health 23 804. (10.1186/s12889-023-15764-y)
- Stevenson-Hoare, J. et al. 2023. New cases of dementia are rising in elderly populations in Wales, UK. Journal of the Neurological Sciences 451 120715. (10.1016/j.jns.2023.120715)
- Steventon, J. J. et al. 2023. Menopause age, reproductive span and hormone therapy duration predict the volume of medial temporal lobe brain structures in postmenopausal women. Psychoneuroendocrinology 158 106393. (10.1016/j.psyneuen.2023.106393)
- Veteleanu, A. et al., 2023. Alzheimer’s disease-associated complement gene variants influence plasma complement protein levels. Journal of Neuroinflammation 20 (1) 169. (10.1186/s12974-023-02850-6)
- Wills, C. et al. 2023. Relationship between 233 colorectal cancer risk loci and survival in 1,926 patients with advanced disease. BJC Reports 1 2. (10.1038/s44276-023-00003-z)
- Wills, C. et al. 2023. Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer. Genes Chromosomes and Cancer 62 (6), pp.332-341. (10.1002/gcc.23133)
- Wren, G. et al. 2023. Characterising heart rhythm abnormalities associated with Xp22.31 deletion. Journal of Medical Genetics 60 , pp.636-643. (10.1136/jmg-2022-108862)
- Zhao, Y. et al., 2023. Tissue specific LRRK2 interactomes reveal a distinct striatal functional unit. PLoS Computational Biology 19 (1) e1010847. (10.1371/journal.pcbi.1010847)
2022
- 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)
- 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)
- 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)
- 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)
- 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.
- 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)
- Escott-Price, V. and Hardy, J. 2022. Genome-wide association studies for Alzheimer’s disease: bigger is not always better. Brain Communications 4 (3) fcac125. (10.1093/braincomms/fcac125)
- 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)
- Hou, J. et al., 2022. Polygenic resilience scores capture protective genetic effects for Alzheimer’s disease. Translational Psychiatry 12 (1) 296. (10.1038/s41398-022-02055-0)
- Karlsson, I. K. et al., 2022. Measuring heritable contributions to Alzheimer's disease: polygenic risk score analysis with twins. Brain Communications 4 (1) fcab308. (10.1093/braincomms/fcab308)
- Martin-Flores, N. et al., 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.
- 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 987677. (10.3389/fnins.2022.987677)
- 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) e064192. (10.1002/alz.064192)
- Trubetskoy, V. et al., 2022. Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. Nature 604 , pp.502-508. (10.1038/s41586-022-04434-5)
- 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)
- 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)
2021
- 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)
- 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)
- 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)
- Chen, Z. et al., 2021. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications 12 (1) 2076. (10.1038/s41467-021-22262-5)
- de Rojas, I. et al., 2021. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications 12 (1) 3417. (10.1038/s41467-021-22491-8)
- 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) e0249189. (10.1371/journal.pone.0249189)
- 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)
- 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)
- 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) 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 13 140. (10.1186/s13195-021-00884-7)
- Harwood, J. et al. 2021. Defining functional variants associated with Alzheimer's disease in the induced immune response. Brain Communications 3 (2) fcab083. (10.1093/braincomms/fcab083)
- 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)
- 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 4506.
- 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)
- 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)
- 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)
- Rowe, T. et al. 2021. Machine learning for the life-time risk prediction of Alzheimer’s disease: a systematic review. Brain Communications 3 (4) fcab246. (10.1093/braincomms/fcab246)
- 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) 78. (10.1038/s41398-020-01184-8)
- 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)
- 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)
2020
- 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)
- 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)
- Bellou, E. et al. 2020. Age-dependent effect of APOE and polygenic component on Alzheimer's disease. Neurobiology of Aging 93 , pp.69-77. Neurobiology of Aging Volume 93, September 2020, Pages 69-77. (10.1016/j.neurobiolaging.2020.04.024)
- Bellou, E. , Stevenson-Hoare, J. and Escott-Price, V. 2020. Polygenic risk and pleiotropy in neurodegenerative diseases. Neurobiology of Disease 142 104953. (10.1016/j.nbd.2020.104953)
- 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)
- 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) e0237676. (10.1371/journal.pone.0237676)
- 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)
- 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)
- Grama, S. et al. 2020. Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort. Translational Psychiatry 10 309. (10.1038/s41398-020-00940-0)
- 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)
- 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)
- 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) e0240824. (10.1371/journal.pone.0240824)
- 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)
- Orme, T. et al., 2020. Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathologica Communications 8 (1) 5. (10.1186/s40478-020-0879-z)
- 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)
- Richards, A. et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46 (2), pp.-. (10.1093/schbul/sbz061)
- 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)
- 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)
- 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)
2019
- 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) e0218111. (10.1371/journal.pone.0218111)
- 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)
- Czamara, D. et al., 2019. Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns. Nature Communications 10 2548. (10.1038/s41467-019-10461-0)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Kendall, K. M. et al. 2019. Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank. British Journal of Psychiatry 214 (05), pp.297-304. (10.1192/bjp.2018.301)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Salih, D. A. et al., 2019. Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk. Brain Communications 1 (1), pp.-. fcz022. (10.1093/braincomms/fcz022)
- 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)
- 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
- 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)
- 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)
- Anttila, V. et al., 2018. Analysis of shared heritability in common disorders of the brain. Science 360 (6395) eaap8757. (10.1126/science.aap8757)
- 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) e0209160. (10.1371/journal.pone.0209160)
- 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)
- 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)
- 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)
- 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)
- Owen, D. et al. 2018. Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. BMC Genomics 19 (1) 867. (10.1186/s12864-018-5292-7)
- Pardinas, A. F. et al. 2018. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nature Genetics 50 , pp.381-389. (10.1038/s41588-018-0059-2)
- 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)
- 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 39. (10.1038/s41398-017-0079-1)
- 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) 178. (10.1038/s41398-018-0236-1)
- 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)
2017
- 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.
- 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)
- 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. 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- McLaughlin, R. L. et al., 2017. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications 8 14774. (10.1038/ncomms14774)
- 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)
- 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)
- Rietschel, L. et al., 2017. Hair cortisol in twins: Heritability and genetic overlap with psychological variables and stress-system genes. Scientific Reports 7 (1) 15351. (10.1038/s41598-017-11852-3)
- 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)
- 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)
- 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 1264. (10.1038/s41398-017-0012-7)
2016
- 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 38 214.e7–214.e10. (10.1016/j.neurobiolaging.2015.10.028)
- 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)
- Han, J. et al. 2016. Gender differences in CNV burden do not confound schizophrenia CNV associations. Scientific Reports 6 25986. (10.1038/srep25986)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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. Lancet Neurology 15 (6), pp.585-596. (10.1016/S1474-4422(16)00071-5)
- 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.
- 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)
- 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)
2015
- 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)
- Escott-Price, V. et al. 2015. No evidence for enrichment in schizophrenia for common allelic associations at imprinted loci. PLoS ONE 10 (12), pp.-. e0144172. (10.1371/journal.pone.0144172)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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. e1001841. (10.1371/journal.pmed.1001841)
- 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)
- 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. A46. (10.1159/000381109)
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)
- Escott-Price, V. et al. 2014. Gene-wide analysis detects two new susceptibility genes for Alzheimer's Disease. PLoS ONE 9 (6) e94661. (10.1371/journal.pone.0094661)
- 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)
- 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)
- 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)
- 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)
- 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)
- Ripke, S. et al., 2014. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511 (7510), pp.421-427. (10.1038/nature13595)
- Smith, C. G. et al., 2014. Response. Journal of the National Cancer Institute 106 (5), pp.dju087. (10.1093/jnci/dju087)
2013
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Zou, F. et al., 2013. Linking protective GAB2 variants, increased cortical GAB2 expression and decreased Alzheimer's Disease pathology. PLoS ONE 8 (5) e64802. (10.1371/journal.pone.0064802)
2012
- 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) e37852. (10.1371/journal.pone.0037852)
- 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)
- 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)
- 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)
- 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)
- 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) 1848.e1. (10.1016/j.neurobiolaging.2012.02.005)
- 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)
- 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. 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)
- Keller, M. C. et al., 2012. Runs of homozygosity implicate autozygosity as a schizophrenia risk factor. Plos Genetics 8 (4) 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)
- 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) 1849.e5. (10.1016/j.neurobiolaging.2012.02.014)
2011
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
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. Molecular Psychiatry 15 (2), pp.146-153. (10.1038/mp.2008.66)
- 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)
- Dwyer, S. L. et al. 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)
- Escott-Price, V. et al. 2010. Genetic differences between five European populations. Human Heredity 70 (2), pp.141-149. (10.1159/000313854)
- 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)
- 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)
- 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) e13950. (10.1371/journal.pone.0013950)
- Jones, R. M. et al. 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)
- 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)
2009
- 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)
- 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)
- 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)
- Gerrish, A. et al. 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)
- 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)
- 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)
- 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)
- 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)
- 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
- Abraham, R. et al., 2008. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Medical Genomics 1 (1) 44. (10.1186/1755-8794-1-44)
- Azzopardi, D. 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
2007
- 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)
- 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)
- 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)
- Glaser, B. et al. 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.
- Hamshere, M. L. et al. 2007. Large-scale linkage analysis of 1302 affected relative pairs with rheumatoid arthritis [Conference Proceedings]. BMC Proceedings 1 (S1), pp.S100-S100.
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Segurado, R. et al. 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.
- 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)
2006
- Escott-Price, V. et al. 2006. Metyrapone improves endothelial dysfunction in patients with treated depression. Journal of the American College of Cardiology 48 (1), pp.170-175.
- Escott-Price, V. et al. 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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) 211. (10.1186/1471-2105-7-211)
- Kirov, G. et al. 2006. Pooled DNA genotyping on Affymetrix SNP genotyping arrays. BMC Genomics 7 (1), pp.27-37. (10.1186/1471-2164-7-27)
- 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)
- 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.
2005
- Bray, N. J. et al. 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)
- Broadley, A. J. et al., 2005. Baroreflex sensitivity is reduced in depression. Psychosomatic Medicine 67 (4), pp.648-651.
- 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)
- 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)
- 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)
- Escott-Price, V. et al. 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)
- Escott-Price, V. et al. 2005. Streamlined analysis of pooled genotype data in SNP-based association studies. Genetic Epidemiology 28 (3), pp.273-282. (10.1002/gepi.20062)
- Hamshere, M. L. et al. 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)
- Kirov, G. et al. 2005. Underpowered repetitive transcranial magnetic stimulation might not be an effective antidepressant treatment. Journal of Clinical Psychiatry 66 (4), pp.543.
- 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)
2004
- Bray, N. J. et al. 2004. Allelic expression of APOE in brain [Conference Abstract]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 130B (1), pp.61-61.
- Bray, N. J. et al. 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)
- 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.
- 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)
- 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.
- 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
- 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)
- 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)
Articles
- Abraham, R. et al., 2008. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Medical Genomics 1 (1) 44. (10.1186/1755-8794-1-44)
- 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)
- 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)
- Allardyce, J. et al. 2023. Specificity of polygenic signatures across symptom dimensions in bipolar disorder: an analysis of UK Bipolar Disorder Research Network data. The Lancet Psychiatry 10 (8), pp.623-631. (10.1016/S2215-0366(23)00186-4)
- 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)
- 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)
- Anttila, V. et al., 2018. Analysis of shared heritability in common disorders of the brain. Science 360 (6395) eaap8757. (10.1126/science.aap8757)
- 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) e0209160. (10.1371/journal.pone.0209160)
- Azzopardi, D. 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)
- 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)
- 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)
- 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) e0218111. (10.1371/journal.pone.0218111)
- 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)
- 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)
- 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)
- Bellou, E. et al. 2020. Age-dependent effect of APOE and polygenic component on Alzheimer's disease. Neurobiology of Aging 93 , pp.69-77. Neurobiology of Aging Volume 93, September 2020, Pages 69-77. (10.1016/j.neurobiolaging.2020.04.024)
- 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)
- Bellou, E. et al. 2025. Benchmarking Alzheimer's disease prediction: personalised risk assessment using polygenic risk scores across various methodologies and genome-wide studies. Alzheimer's Research and Therapy 17 (1) 6. (10.1186/s13195-024-01664-9)
- Bellou, E. , Stevenson-Hoare, J. and Escott-Price, V. 2020. Polygenic risk and pleiotropy in neurodegenerative diseases. Neurobiology of Disease 142 104953. (10.1016/j.nbd.2020.104953)
- 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)
- Bracher-Smith, M. and Escott-Price, V. 2025. Decoding the genomic symphony: unravelling brain disorders through data integration and machine learning. Molecular Psychiatry 30 , pp.5914-5925. (10.1038/s41380-025-03330-4)
- 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)
- Bracher-Smith, M. et al. 2025. Machine learning in Alzheimer’s disease genetics. Nature Communications 16 (1) 6726. (10.1038/s41467-025-61650-z)
- 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)
- 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)
- Bray, N. J. et al. 2004. Allelic expression of APOE in brain [Conference Abstract]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 130B (1), pp.61-61.
- Bray, N. J. et al. 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)
- 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. et al. 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)
- Broadley, A. J. et al., 2005. Baroreflex sensitivity is reduced in depression. Psychosomatic Medicine 67 (4), pp.648-651.
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Caseras, X. et al. 2023. Copy Number Variants increasing risk for schizophrenia: shared and distinct effects on brain morphometry and cognitive performance. Biological Psychiatry: Global Open Science 3 (4), pp.902-911. (10.1016/j.bpsgos.2022.10.006)
- Caseras, X. et al. 2024. Common risk alleles for schizophrenia within the major histocompatibility complex predict white matter microstructure. Translational Psychiatry 14 194. (10.1038/s41398-024-02910-2)
- 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)
- Chandler, H. L. et al. 2025. Non‐APOE variants predominately expressed in smooth muscle cells contribute to the influence of Alzheimer's disease genetic risk on white matter hyperintensities. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 21 (2) e14455. (10.1002/alz.14455)
- Chen, Z. et al., 2021. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications 12 (1) 2076. (10.1038/s41467-021-22262-5)
- 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)
- 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) e0237676. (10.1371/journal.pone.0237676)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Czamara, D. et al., 2019. Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns. Nature Communications 10 2548. (10.1038/s41467-019-10461-0)
- 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)
- 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)
- de Rojas, I. et al., 2021. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications 12 (1) 3417. (10.1038/s41467-021-22491-8)
- 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) e0249189. (10.1371/journal.pone.0249189)
- 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) e37852. (10.1371/journal.pone.0037852)
- 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)
- Donnelly, N. et al., 2023. Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach. Molecular Autism 14 (1) 19. (10.1186/s13229-023-00549-2)
- 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)
- 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)
- Dwyer, S. L. et al. 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)
- 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)
- Escott-Price, V. et al. 2014. Gene-wide analysis detects two new susceptibility genes for Alzheimer's Disease. PLoS ONE 9 (6) e94661. (10.1371/journal.pone.0094661)
- 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)
- Escott-Price, V. et al. 2006. Metyrapone improves endothelial dysfunction in patients with treated depression. Journal of the American College of Cardiology 48 (1), pp.170-175.
- Escott-Price, V. et al. 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Escott-Price, V. and Hardy, J. 2022. Genome-wide association studies for Alzheimer’s disease: bigger is not always better. Brain Communications 4 (3) fcac125. (10.1093/braincomms/fcac125)
- 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)
- Escott-Price, V. et al. 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)
- 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)
- Escott-Price, V. et al. 2015. No evidence for enrichment in schizophrenia for common allelic associations at imprinted loci. PLoS ONE 10 (12), pp.-. e0144172. (10.1371/journal.pone.0144172)
- 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. 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)
- Escott-Price, V. et al. 2005. Streamlined analysis of pooled genotype data in SNP-based association studies. Genetic Epidemiology 28 (3), pp.273-282. (10.1002/gepi.20062)
- 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)
- 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)
- 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)
- 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 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)
- 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) 156. (10.1186/s13195-021-00898-1)
- 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)
- 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)
- Escott-Price, V. and Schmidt, K. M. 2023. Pitfalls of predicting age related traits by polygenic risk scores. Annals of Human Genetics 87 (5), pp.203-209. (10.1111/ahg.12520)
- Escott-Price, V. and Schmidt, K. M. 2021. Probability of Alzheimer’s disease based on common and rare genetic variants. Alzheimer's Research & Therapy 13 140. (10.1186/s13195-021-00884-7)
- 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. 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)
- 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)
- 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. 2019. Polygenic risk for schizophrenia and season of birth within the UK Biobank cohort. Psychological Medicine 49 (15), pp.2499-2504. (10.1017/S0033291718000454)
- Escott-Price, V. et al. 2010. Genetic differences between five European populations. Human Heredity 70 (2), pp.141-149. (10.1159/000313854)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Gerrish, A. et al. 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)
- 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)
- 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)
- Glaser, B. et al. 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.
- Graham, A. et al., 2025. Human longevity and Alzheimer’s disease variants act via microglia and oligodendrocyte gene networks. Brain 148 (3), pp.969-984. awae339. (10.1093/brain/awae339)
- 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 e069243. (10.1136/bmjopen-2022-069243)
- Grama, S. et al. 2020. Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort. Translational Psychiatry 10 309. (10.1038/s41398-020-00940-0)
- 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)
- 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)
- 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)
- 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 38 214.e7–214.e10. (10.1016/j.neurobiolaging.2015.10.028)
- 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)
- 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)
- 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)
- 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)
- 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) 1848.e1. (10.1016/j.neurobiolaging.2012.02.005)
- 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)
- 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)
- 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)
- Hamshere, M. L. et al. 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)
- 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)
- Hamshere, M. L. et al. 2007. Large-scale linkage analysis of 1302 affected relative pairs with rheumatoid arthritis [Conference Proceedings]. BMC Proceedings 1 (S1), pp.S100-S100.
- Han, J. et al. 2016. Gender differences in CNV burden do not confound schizophrenia CNV associations. Scientific Reports 6 25986. (10.1038/srep25986)
- 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)
- 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)
- Hardy, J. and Escott-Price, V. 2025. The genetics of neurodegenerative diseases is the genetics of age-related damage clearance failure. Molecular Psychiatry 30 , pp.2748-2753. (10.1038/s41380-025-02911-7)
- 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)
- 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)
- 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)
- 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)
- 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)
- Harrison, J. R. et al. 2023. Pathway-specific polygenic scores for Alzheimer's disease are associated with changes in brain structure in younger and older adults. Brain Communications 5 (5) fcad229. (10.1093/braincomms/fcad229)
- Harrison, J. R. et al. 2025. White matter microstructure in mid- to late adulthood is influenced by pathway-stratified polygenic risk for Alzheimer’s disease. Frontiers in Neuroscience 19 1638503. (10.3389/fnins.2025.1638503)
- 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)
- Harwood, J. et al. 2021. Defining functional variants associated with Alzheimer's disease in the induced immune response. Brain Communications 3 (2) fcab083. (10.1093/braincomms/fcab083)
- 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)
- 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)
- 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)
- 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)
- 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)
- Hou, J. et al., 2022. Polygenic resilience scores capture protective genetic effects for Alzheimer’s disease. Translational Psychiatry 12 (1) 296. (10.1038/s41398-022-02055-0)
- Hou, J. et al., 2025. Meta‐analysis of transcriptomic studies of blood and six brain regions identifies a consensus of 15 cross‐tissue mechanisms in Alzheimer's disease and suggests an origin of cross‐study heterogeneity. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 198 (4) e33019. (10.1002/ajmg.b.33019)
- 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)
- 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)
- Ibanez, K. et al., 2024. Increased frequency of repeat expansion mutations across different populations. Nature Medicine 30 , pp.3357-3368. (10.1038/s41591-024-03190-5)
- 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) e0240824. (10.1371/journal.pone.0240824)
- 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)
- 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) 211. (10.1186/1471-2105-7-211)
- 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) e13950. (10.1371/journal.pone.0013950)
- 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)
- Jones, R. M. et al. 2010. The relationship between self-esteem and psychotic symptoms in schizophrenia: A longitudinal study. Psychosis 2 (3), pp.218-226. (10.1080/17522431003602430)
- 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)
- Karlsson, I. K. et al., 2022. Measuring heritable contributions to Alzheimer's disease: polygenic risk score analysis with twins. Brain Communications 4 (1) fcab308. (10.1093/braincomms/fcab308)
- 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)
- 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)
- Keller, M. C. et al., 2012. Runs of homozygosity implicate autozygosity as a schizophrenia risk factor. Plos Genetics 8 (4) e1002656. (10.1371/journal.pgen.1002656)
- Kendall, K. M. et al. 2019. Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank. British Journal of Psychiatry 214 (05), pp.297-304. (10.1192/bjp.2018.301)
- Kendall, K. M. et al. 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)
- Kirov, G. et al. 2006. Pooled DNA genotyping on Affymetrix SNP genotyping arrays. BMC Genomics 7 (1), pp.27-37. (10.1186/1471-2164-7-27)
- 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)
- Kirov, G. et al. 2025. Risk of dementia after electroconvulsive therapy: a cohort study on the population of Wales. Acta Psychiatrica Scandinavica 152 (4), pp.270-277. (10.1111/acps.70005)
- Kirov, G. et al. 2005. Underpowered repetitive transcranial magnetic stimulation might not be an effective antidepressant treatment. Journal of Clinical Psychiatry 66 (4), pp.543.
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Lancaster, T. et al. 2023. Proof-of-concept recall-by-genotype study of extremely low and high Alzheimer’s polygenic risk reveals autobiographical deficits and cingulate cortex correlates. Alzheimer's Research and Therapy 15 213. (10.1186/s13195-023-01362-y)
- Le Guen, Y. et al., 2023. Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes. Proceedings of the National Academy of Sciences 120 (36) e2302720120. (10.1073/pnas.2302720120)
- 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)
- 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)
- 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)
- 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)
- 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)
- Legge, S. E. et al. 2024. Genetic and phenotypic features of Schizophrenia in the UK Biobank. JAMA Psychiatry 81 , pp.681-690. (10.1001/jamapsychiatry.2024.0200)
- 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)
- Leonenko, G. et al. 2021. Identifying individuals with high risk of Alzheimer’s disease using polygenic risk scores. Nature Communications 12 4506.
- Leonenko, G. et al. 2024. Dementias Platform UK: Bringing genetics into life. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 20 (5), pp.3281-3289. (10.1002/alz.13782)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Maguire, E. et al. 2025. Modeling common Alzheimer’s disease with high and low polygenic risk in human iPSC: A large-scale research resource. Stem Cell Reports 20 (8) 102570. (10.1016/j.stemcr.2025.102570)
- 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)
- Manzoni, C. et al., 2024. Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia. American Journal of Human Genetics 111 (7), pp.1316-1329. (10.1016/j.ajhg.2024.05.017)
- 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)
- Martin Flores, N. et al., 2024. Downregulation of Dickkopf-3, a Wnt antagonist elevated in Alzheimer’s disease, restores synapse integrity and memory in a disease mouse model. eLife 12 RP89453. (10.7554/elife.89453)
- McLaughlin, R. L. et al., 2017. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications 8 14774. (10.1038/ncomms14774)
- 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)
- 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 987677. (10.3389/fnins.2022.987677)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Nicolas, A. et al., 2025. Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations. Nature Genetics 57 , pp.1598-1610. (10.1038/s41588-025-02227-w)
- 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.
- 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)
- 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)
- O'Connell, K. S. et al., 2025. Genomics yields biological and phenotypic insights into bipolar disorder. Nature 639 , pp.968-975. (10.1038/s41586-024-08468-9)
- 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)
- 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)
- 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)
- 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)
- 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)
- Orme, T. et al., 2020. Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathologica Communications 8 (1) 5. (10.1186/s40478-020-0879-z)
- 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)
- Owen, D. et al. 2018. Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. BMC Genomics 19 (1) 867. (10.1186/s12864-018-5292-7)
- Pardinas, A. F. et al. 2018. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nature Genetics 50 , pp.381-389. (10.1038/s41588-018-0059-2)
- 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.
- Petrican, R. et al. 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)
- Raykov, P. P. et al., 2025. Complementary MR measures of white matter and their relation to cardiovascular health and cognition. Scientific Reports 15 (1) 28890. (10.1038/s41598-025-13610-2)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Richards, A. et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46 (2), pp.-. (10.1093/schbul/sbz061)
- Rietschel, L. et al., 2017. Hair cortisol in twins: Heritability and genetic overlap with psychological variables and stress-system genes. Scientific Reports 7 (1) 15351. (10.1038/s41598-017-11852-3)
- Ripke, S. et al., 2014. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511 (7510), pp.421-427. (10.1038/nature13595)
- 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)
- Rowe, T. et al. 2021. Machine learning for the life-time risk prediction of Alzheimer’s disease: a systematic review. Brain Communications 3 (4) fcab246. (10.1093/braincomms/fcab246)
- 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)
- Salih, D. A. et al., 2019. Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk. Brain Communications 1 (1), pp.-. fcz022. (10.1093/braincomms/fcz022)
- Schalkamp, A. et al. 2025. Wearables-derived risk score for unintrusive detection of α-synuclein aggregation or dopaminergic deficit. EBioMedicine 117 105782. (10.1016/j.ebiom.2025.105782)
- Segurado, R. et al. 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.
- Shafieinouri, M. et al., 2025. Gut-brain nexus: Mapping multimodal links to neurodegeneration at biobank scale. Science Advances 11 (35) eadu2937. (10.1126/sciadv.adu2937)
- 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) 1849.e5. (10.1016/j.neurobiolaging.2012.02.014)
- Shitomi-Jones, L. M. et al. 2024. Exploration of first onsets of mania, schizophrenia spectrum disorders and major depressive disorder in perimenopause. nature mental health 2 (10), pp.1161-1168. (10.1038/s44220-024-00292-4)
- 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)
- Simmonds, E. et al. 2025. Dementia risk due to traumatic brain injury in subtypes of dementia in the Welsh population. Neurology 105 (3) e213866. (10.1212/wnl.0000000000213866)
- Simmonds, E. et al. 2023. What does heritability of Alzheimer’s disease represent?. PLoS ONE 18 (4) e0281440. (10.1371/journal.pone.0281440)
- Simmonds, E. et al. 2024. Chromosome X-wide association study in case control studies of pathologically confirmed Alzheimer’s disease in a European population. Translational Psychiatry 14 (1) 358. (10.1038/s41398-024-03058-9)
- Simmonds, E. et al. 2025. Sleep disturbances as risk factors for neurodegeneration later in life. npj Dementia 1 6. (10.1038/s44400-025-00008-0)
- 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)
- 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)
- 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)
- 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)
- Smart, S. E. et al. 2025. The role of SLC39A8.p.( Ala391Thr ) in schizophrenia symptom severity and cognitive ability: cross‐sectional studies of schizophrenia and the general UK population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 198 (7), pp.135-146. (10.1002/ajmg.b.33037)
- 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)
- Smith, C. G. et al., 2014. Response. Journal of the National Cancer Institute 106 (5), pp.dju087. (10.1093/jnci/dju087)
- 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)
- 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)
- 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)
- 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. e1001841. (10.1371/journal.pmed.1001841)
- 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)
- Stevenson-Hoare, J. et al. 2024. Severe psychiatric disorders are associated with increased risk of dementia. BMJ Mental Health 27 (1) e301097. (10.1136/bmjment-2024-301097)
- Stevenson-Hoare, J. , Leonenko, G. and Escott-Price, V. 2023. Comparison of long-term effects of metformin on longevity between people with type 2 diabetes and matched non-diabetic controls. BMC Public Health 23 804. (10.1186/s12889-023-15764-y)
- Stevenson-Hoare, J. et al. 2023. New cases of dementia are rising in elderly populations in Wales, UK. Journal of the Neurological Sciences 451 120715. (10.1016/j.jns.2023.120715)
- 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) e064192. (10.1002/alz.064192)
- Steventon, J. J. et al. 2023. Menopause age, reproductive span and hormone therapy duration predict the volume of medial temporal lobe brain structures in postmenopausal women. Psychoneuroendocrinology 158 106393. (10.1016/j.psyneuen.2023.106393)
- 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 39. (10.1038/s41398-017-0079-1)
- 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) 178. (10.1038/s41398-018-0236-1)
- 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)
- 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)
- 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)
- Thomson, W. et al., 2007. Rheumatoid arthritis association at 6q23. Nature Genetics 39 (12), pp.1431-1433. (10.1038/ng.2007.32)
- Trastulla, L. et al., 2024. Distinct genetic liability profiles define clinically relevant patient strata across common diseases. Nature Communications 15 5534. (10.1038/s41467-024-49338-2)
- Trubetskoy, V. et al., 2022. Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. Nature 604 , pp.502-508. (10.1038/s41586-022-04434-5)
- 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)
- 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)
- 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) 78. (10.1038/s41398-020-01184-8)
- Veteleanu, A. et al., 2023. Alzheimer’s disease-associated complement gene variants influence plasma complement protein levels. Journal of Neuroinflammation 20 (1) 169. (10.1186/s12974-023-02850-6)
- 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)
- 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)
- 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. A46. (10.1159/000381109)
- 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)
- 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)
- 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)
- 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 1264. (10.1038/s41398-017-0012-7)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Wills, C. et al. 2023. Relationship between 233 colorectal cancer risk loci and survival in 1,926 patients with advanced disease. BJC Reports 1 2. (10.1038/s44276-023-00003-z)
- Wills, C. et al. 2025. Relationship between inherited genetic variation and survival from colorectal cancer stratified by tumour location. Scientific Reports 15 2423. (10.1038/s41598-024-77870-0)
- Wills, C. et al. 2023. Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer. Genes Chromosomes and Cancer 62 (6), pp.332-341. (10.1002/gcc.23133)
- Woolway, G. E. et al., 2024. Assessing the validity of a self-reported clinical diagnosis of schizophrenia. Schizophrenia 10 (1) 99. (10.1038/s41537-024-00526-5)
- 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)
- Wren, G. et al. 2023. Characterising heart rhythm abnormalities associated with Xp22.31 deletion. Journal of Medical Genetics 60 , pp.636-643. (10.1136/jmg-2022-108862)
- 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)
- Zhao, Y. et al., 2024. Transcriptomics and weighted protein network analyses of the LRRK2 protein interactome reveal distinct molecular signatures for sporadic and LRRK2 Parkinson’s Disease. npj Parkinson's Disease 10 (1) 144. (10.1038/s41531-024-00761-8)
- Zhao, Y. et al., 2023. Tissue specific LRRK2 interactomes reveal a distinct striatal functional unit. PLoS Computational Biology 19 (1) e1010847. (10.1371/journal.pcbi.1010847)
- Zou, F. et al., 2013. Linking protective GAB2 variants, increased cortical GAB2 expression and decreased Alzheimer's Disease pathology. PLoS ONE 8 (5) e64802. (10.1371/journal.pone.0064802)
Websites
- 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.
- Barnett, E. et al., 2025. A novel method to disentangle tightly linked risk and resilience genes for brain disorders: application to Alzheimer's disease. [Online].medRxiz: openRxiv. (10.1101/2025.02.26.25322962)Available at: https://doi.org/10.1101/2025.02.26.25322962.
- 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. et al., 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.
- 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.
- Thomassen, J. et al., 2025. APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease.. [Online].medRxiv: openRxiv. (10.1101/2025.05.07.25327065)Available at: https://doi.org/10.1101/2025.05.07.25327065.
Research
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.
Teaching
MSc in Biostatistics and Bioinformatics: “Genetic Epidemiology: Association Studies” Module Leader.
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.
Contact Details
[email protected]
+44 29206 88429
Hadyn Ellis Building, Room 1.03 - Office D, Maindy Road, Cardiff, CF24 4HQ
+44 29206 88429
Hadyn Ellis Building, Room 1.03 - Office D, Maindy Road, Cardiff, CF24 4HQ
