Yr Athro Nigel Williams

2025

• Harvey, J. et al. 2025. Epigenetic insights into neuropsychiatric and cognitive symptoms in Parkinson's disease: A DNA co-methylation network analysis.. npj Parkinson's Disease 11(1), pp. 39. (10.1038/s41531-025-00877-5)

2024

• Trastulla, L. et al. 2024. Distinct genetic liability profiles define clinically relevant patient strata across common diseases. Nature Communications 15, article number: 5534. (10.1038/s41467-024-49338-2)
• Tan, M. M. X. et al. 2024. Genome-wide determinants of mortality and motor progression in Parkinson’s disease. npj Parkinson's Disease 10(1), article number: 113. (10.1038/s41531-024-00729-8)
• Wu, L. Y. et al. 2024. Investigation of the genetic aetiology of Lewy body diseases with and without dementia. Brain Communications 6(4), article number: fcae190. (10.1093/braincomms/fcae190)
• Menon, P. J. et al. 2024. Genotype–phenotype correlation in PRKN- associated Parkinson’s disease. npj Parkinson's Disease 10, article number: 72. (10.1038/s41531-024-00677-3)
• Kim, J. J. et al. 2024. Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease. Nature Genetics 56(1), pp. 27-36. (10.1038/s41588-023-01584-8)

2023

• Martínez Carrasco, A. et al. 2023. Genome-wide analysis of motor progression in parkinson disease. Neurology Genetics 9(5), article number: e200092. (10.1212/NXG.0000000000200092)
• Hanna, S. J. et al. 2023. Single-cell RNAseq identifies clonally expanded antigen-specific T-cells following intradermal injection of gold nanoparticles loaded with diabetes autoantigen in humans. Frontiers in Immunology 14, article number: 1276255. (10.3389/fimmu.2023.1276255)
• Towns, C. et al. 2023. Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2). npj Parkinson's Disease 9(1), article number: 131. (10.1038/s41531-023-00533-w)
• Martinez-Carrasco, A. et al. 2023. Genetic meta-analysis of levodopa induced dyskinesia in Parkinson’s disease. npj Parkinson's Disease 9, article number: 128. (10.1038/s41531-023-00573-2)
• Millrine, D. et al. 2023. Th1 cells alter the inflammatory signature of IL-6 by channeling STAT transcription factors to Alu-like retroelements. The Journal of Immunology 211(2), pp. 274-286. (10.4049/jimmunol.2300114)
• Lin, J. et al. 2023. Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia. Molecular Psychiatry 28, pp. 2071-2080. (10.1038/s41380-023-02009-y)
• Adams, R. L. et al. 2023. Psychopathology in adults with copy number variants. Psychological Medicine 53(7), pp. 3142-3149. (10.1017/S0033291721005201)
• Real, R. et al. 2023. Association between the LRP1B and APOE loci in the development of Parkinson’s disease dementia. Brain 146(5), pp. 1873-1887. (10.1093/brain/awac414)
• Chawner, S. J. R. A., Evans, A., IMAGINE-ID consortium, ., Williams, N., Owen, M. J., Hall, J. and van den Bree, M. B. M. 2023. Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions. Translational Psychiatry 13, article number: 7. (10.1038/s41398-022-02296-z)
• Winchester, L. et al. 2023. Identification of a possible proteomic biomarker in Parkinson’s disease: discovery and replication in blood, brain and cerebrospinal fluid. Brain Communications 5(1), article number: fcac343. (10.1093/braincomms/fcac343)

2022

• Harvey, J. et al. 2022. An epigenome wide association study of sub-phenotypes in Parkinson's disease. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 18(S4), article number: e069252. (10.1002/alz.069252)
• Sandor, C. et al. 2022. Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation. Genome Medicine 14, article number: 129. (10.1186/s13073-022-01132-9)
• Lawton, M. et al. 2022. Genetics of validated Parkinson’s disease subtypes in the Oxford Discovery and Tracking Parkinson’s cohorts. Journal of Neurology, Neurosurgery and Psychiatry 93(9), pp. 952-959. (10.1136/jnnp-2021-327376)
• Lobanov, S. et al. 2022. Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1. npj Genomic Medicine 7, article number: 53. (10.1038/s41525-022-00317-w)
• Vijiaratnam, N. et al. 2022. Combining biomarkers for prognostic modelling of Parkinson’s disease. Journal of Neurology, Neurosurgery and Psychiatry, article number: jnnp-2021-328365. (10.1136/jnnp-2021-328365)
• McAllister, B. et al. 2022. Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nature Neuroscience 25, pp. 446-457. (10.1038/s41593-022-01033-5)
• 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)

2021

• Cleynen, I. et al. 2021. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Molecular Psychiatry, pp. 4496-4510. (10.1038/s41380-020-0654-3)
• Hrastelj, J. et al. 2021. CSF-resident CD4+ T-cells display a distinct gene expression profile with relevance to immune surveillance and multiple sclerosis. Brain Communications (10.1093/braincomms/fcab155)
• Owen, M. J. and Williams, N. M. 2021. Explaining the missing heritability of psychiatric disorders. World Psychiatry 20(2), pp. 294-295. (10.1002/wps.20870)
• Kia, D. A. et al. 2021. Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets. JAMA Neurology 78(4), pp. 464-472. (10.1001/jamaneurol.2020.5257)
• Chen, Z. et al. 2021. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications 12(1), article number: 2076. (10.1038/s41467-021-22262-5)
• McAllister, B. et al. 2021. Timing and impact of psychiatric, cognitive, and motor abnormalities in Huntington disease. Neurology 96(19), pp. e2395-e2406. (10.1212/WNL.0000000000011893)
• Tan, M. M. et al. 2021. Genome-wide association studies of cognitive and motor progression in Parkinson's disease. Movement Disorders 36(2), pp. 424-433. (10.1002/mds.28342)
• Linden, S. C. et al. 2021. The psychiatric phenotypes of 1q21 distal deletion and duplication. Translational Psychiatry 11, article number: 105. (10.1038/s41398-021-01226-9)
• Choompoo, N. et al. 2021. Induced pluripotent stem cells derived from the developing striatum as a potential donor source for cell replacement therapy for Huntington disease. Cytotherapy 23(2), pp. 111-118. (10.1016/j.jcyt.2020.06.001)
• 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)

2020

• Davies, R. et al. 2020. Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 Deletion Syndrome. Nature Medicine 26, pp. 1912-1918. (10.1038/s41591-020-1103-1)
• Dima, D. C. et al. 2020. Electrophysiological network alterations in adults with copy number variants associated with high neurodevelopmental risk. Translational Psychiatry 10, article number: 324. (10.1038/s41398-020-00998-w)
• Williams, N. M. et al. 2020. Genome‐wide association study of pain in Parkinson's disease implicates TRPM8 as a risk factor. Movement Disorders 35(4), pp. 705-707. (10.1002/mds.28001)
• Jabbari, E. et al. 2020. Diagnosis across the spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome. JAMA Neurology 77(3), pp. 377-387. (10.1001/jamaneurol.2019.4347)
• McAllister, B. et al. 2020. The onset and prevalence of motor and psychiatric symptoms in Huntington’s disease. [Online]. bioRxiv. (10.1101/2020.05.26.116798)

2019

• Tan, M. M. et al. 2019. Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study. Brain 142(9), pp. 2828-2844. (10.1093/brain/awz191)
• Jabbari, E. et al. 2019. The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy. Movement Disorders 34(9), pp. 1307-1314. (10.1002/mds.27786)
• Malek, N. et al. 2019. L-dopa responsiveness in early Parkinson's disease is associated with the rate of motor progression. Parkinsonism and Related Disorders 65, pp. 55-61. (10.1016/j.parkreldis.2019.05.022)
• Jones, H. J., Hubbard, L., Mitchell, R. E., Jones, S. A., Williams, N. M., Zammit, S. and Hall, J. 2019. Association of genetic risk for rheumatoid arthritis with cognitive and psychiatric phenotypes across childhood and adolescence. JAMA Network Open 2(6), pp. -., article number: e196118. (10.1001/jamanetworkopen.2019.6118)
• Twohig, J. P. et al. 2019. Activation of naïve CD4+ T cells re-tunes STAT1 signaling to deliver unique cytokine responses in memory CD4+ T cells. Nature Immunology 20, pp. 458-470. (10.1038/s41590-019-0350-0)
• Drakesmith, M. et al. 2019. Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures. Translational Psychiatry 9(1), article number: 102. (10.1038/s41398-019-0440-7)

2018

• Lawton, M. et al. 2018. Developing and validating Parkinson's disease subtypes and their motor and cognitive progression. Journal of Neurology, Neurosurgery and Psychiatry 89(12), pp. 1279-1287. (10.1136/jnnp-2018-318337)
• Silverdale, M. A. et al. 2018. A detailed clinical study of pain in 1957 participants with early/moderate Parkinson's disease. Parkinsonism & Related Disorders 56, pp. 27-32. (10.1016/j.parkreldis.2018.06.001)
• Bakhsh, A. D. et al. 2018. An InDel in Phospholipase-C-B-1 is linked with euthyroid multinodular goiter. Thyroid 28(7), pp. 891-901. (10.1089/thy.2017.0312)
• Anttila, V. et al. 2018. Analysis of shared heritability in common disorders of the brain. Science 360(6395), article number: eaap8757. (10.1126/science.aap8757)
• Malek, N. et al. 2018. Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study. Journal of Neurology, Neurosurgery and Psychiatry 89(7), pp. 702-709. (10.1136/jnnp-2017-317348)
• 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)
• Boot, E. et al. 2018. Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2. Neurology 90(23), pp. e2059-e2067. (10.1212/WNL.0000000000005660)

2017

• Jansen, I. E. et al. 2017. Establishing the role of rare coding variants in known Parkinson's disease risk loci. Neurobiology of Aging 59, pp. 220.e11-220.e18. (10.1016/j.neurobiolaging.2017.07.009)
• Greene, C. et al. 2017. Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia. Molecular Psychiatry 23, pp. 2156-2166. (10.1038/mp.2017.156)
• Malek, N. et al. 2017. Utility of the new Movement Disorder Society clinical diagnostic criteria for Parkinson's disease applied retrospectively in a large cohort study of recent onset cases. Parkinsonism & Related Disorders 40, pp. 40-46. (10.1016/j.parkreldis.2017.04.006)
• Marshall, C. R. et al. 2017. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics 49, pp. 27-35. (10.1038/ng.3725)

2016

• 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)
• Lawton, M. et al. 2016. Equating scores of the University of Pennsylvania smell identification test and sniffin' sticks test in patients with Parkinson's disease. Parkinsonism & Related Disorders 33, pp. 96-101. (10.1016/j.parkreldis.2016.09.023)
• Malek, N. et al. 2016. Vascular disease and vascular risk factors in relation to motor features and cognition in early Parkinson's disease. Movement Disorders 31(10), pp. 1518-1526. (10.1002/mds.26698)
• Malek, N. et al. 2016. Olfaction in Parkin single and compound heterozygotes in a cohort of young onset Parkinson's disease patients. Acta Neurologica Scandinavica 134(4), pp. 271-276. (10.1111/ane.12538)
• Thapar, A. et al. 2016. Psychiatric gene discoveries shape evidence on ADHD's biology. Molecular Psychiatry 21, pp. 1202-1207. (10.1038/mp.2015.163)
• Swallow, D. M. A. et al. 2016. Statins are underused in recent-onset Parkinson's disease with increased vascular risk: findings from the UK Tracking Parkinson's and Oxford Parkinson's Disease Centre (OPDC) discovery cohorts. Journal of Neurology, Neurosurgery & Psychiatry 87(11), pp. 1183-1190. (10.1136/jnnp-2016-313642)
• Mooney, M. A. et al. 2016. Pathway analysis in attention deficit hyperactivity disorder: an ensemble approach. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 171(6), pp. 815-826. (10.1002/ajmg.b.32446)
• 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)
• Swallow, D. M. et al. 2016. Variation in recent onset Parkinson's disease: implications for prodromal detection. Journal of Parkinson's Disease 6(2), pp. 289-300. (10.3233/JPD-150741)
• 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)
• Lubbe, S. J. et al. 2016. Is the MC1R variant p.R160W associated with Parkinson's?. Annals of Neurology 79(1), pp. 159-161. (10.1002/ana.24527)

2015

• Nalls, M. A. et al. 2015. Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study. The Lancet Neurology 14(10), pp. 1002-1009. (10.1016/S1474-4422(15)00178-7)
• Nalls, M. A., Escott-Price, V., Williams, N. M., Lubbe, S., Keller, M. F., Morris, H. R. and Singleton, A. B. 2015. Genetic risk and age in Parkinson's disease: Continuum not stratum. Movement Disorders 30(6), pp. 850-854. (10.1002/mds.26192)
• Escott-Price, V. et al. 2015. Polygenic risk of Parkinson disease is correlated with disease age at onset. Annals of Neurology 77(4), pp. 582-591. (10.1002/ana.24335)
• Martin, J., O'Donovan, M. C., Thapar, A., Langley, K. and Williams, N. 2015. The relative contribution of common and rare genetic variants to ADHD. Translational Psychiatry 5, article number: e506. (10.1038/tp.2015.5)
• Malek, N. et al. 2015. Tracking Parkinson's: study design and baseline patient data. Journal of Parkinson's Disease 5(4), pp. 947-959. (10.3233/JPD-150662)

2014

• 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)
• Nalls, M. A. et al. 2014. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nature Genetics 46(9), pp. 989-993. (10.1038/ng.3043)
• Martin, J. et al. 2014. Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants. Journal of the American Academy of Child and Adolescent Psychiatry 53(7), pp. 761-770.e26. (10.1016/j.jaac.2014.03.004)
• Ripke, S. et al. 2014. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511(7510), pp. 421-427. (10.1038/nature13595)
• Craddock, N. J. et al. 2014. Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations. Schizophrenia Bulletin 40(4), pp. 729-736. (10.1093/schbul/sbu069)
• Dong, J. et al. 2014. Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Neurobiology of Aging 35(6), pp. 1512.e5-10. (10.1016/j.neurobiolaging.2013.12.020)
• Hart, A. B. et al. 2014. Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder. Proceedings of the National Academy of Sciences 111(16), pp. 5968-5973. (10.1073/pnas.1318810111)
• Monks, S. et al. 2014. Further evidence for high rates of schizophrenia in 22q11.2 deletion syndrome. Schizophrenia Research 153(1-3), pp. 231-236. (10.1016/j.schres.2014.01.020)
• Beilina, A. et al. 2014. Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Proceedings of the National Academy of Sciences of the United States of America 111(7), pp. 2626-2631. (10.1073/pnas.1318306111)

2013

• van Scheltinga, A. F. T. et al. 2013. Schizophrenia genetic variants are not associated with intelligence. Psychological Medicine 43(12), pp. 2563-2570. (10.1017/S0033291713000196)
• Nalls, M. A. et al. 2013. Genetic comorbidities in Parkinson's disease. Human Molecular Genetics 23(3), pp. 831-41. (10.1093/hmg/ddt465)
• 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)
• Ripke, S. et al. 2013. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nature Genetics 45(10), pp. 1150-1159. (10.1038/ng.2742)
• Hamshere, M. L. et al. 2013. High loading of polygenic risk for ADHD in children with comorbid aggression. American Journal of Psychiatry 170(8), pp. 909-916. (10.1176/appi.ajp.2013.12081129)
• Yang, L. et al. 2013. Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: Genome-wide association study of both common and rare variants. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162(5), pp. 419-430. (10.1002/ajmg.b.32169)
• Klebe, S. et al. 2013. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery & Psychiatry 84(6), pp. 666-673. (10.1136/jnnp-2012-304475)
• Terwisscha van Scheltinga, A. F. et al. 2013. Genetic schizophrenia risk variants jointly modulate total brain and white matter volume. Biological Psychiatry 73(6), pp. 525-531. (10.1016/j.biopsych.2012.08.017)
• Holmans, P. A. et al. 2013. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Human Molecular Genetics 22(5), pp. 1039-1049. (10.1093/hmg/dds492)
• Escott-Price, V. et al. 2013. Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. JAMA Neurology 70(10), pp. 1268-1276. (10.1001/jamaneurol.2013.448)

2012

• 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)
• Kilarski, L. et al. 2012. Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1)andLRRK2in early-onset Parkinson's disease. Movement Disorders 27(12), pp. 1522-1529. (10.1002/mds.25132)
• Levinson, D. F. et al. 2012. Genome-wide association study of multiplex schizophrenia pedigrees. American Journal of Psychiatry 169(9), pp. 963-973. (10.1176/appi.ajp.2012.11091423)
• Mittag, F. et al. 2012. Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities. Human Mutation 33(12), pp. 1708-1718. (10.1002/humu.22161)
• Jia, P. et al. 2012. Network-assisted investigation of combined causal signals from genome-wide association studies in schizophrenia. PLoS Computational Biology 8(7), article number: e1002587. (10.1371/journal.pcbi.1002587)
• O'Dowd, S. et al. 2012. C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism. Movement Disorders 27(8), pp. 1072-1074. (10.1002/mds.25022)
• Majounie, E. et al. 2012. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet Neurology 11(4), pp. 323-330. (10.1016/S1474-4422(12)70043-1)
• Simón-Sánchez, J. et al. 2012. Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's Disease. PLoS ONE 7(3), article number: e28787. (10.1371/journal.pone.0028787)
• Jia, P. et al. 2012. A bias-reducing pathway enrichment analysis of genome-wide association data confirmed association of the MHC region with schizophrenia. Journal of Medical Genetics 49(2), pp. 96-103. (10.1136/jmedgenet-2011-100397)
• Stergiakouli, E. et al. 2012. Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD. American Journal of Psychiatry 169(2), pp. 186-194. (10.1176/appi.ajp.2011.11040551)
• Williams, N. M. et al. 2012. Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. American Journal of Psychiatry 169(2), pp. 195-204. (10.1176/appi.ajp.2011.11060822)
• Elia, J. et al. 2012. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nature Genetics 44(1), pp. 78-84. (10.1038/ng.1013)
• Mok, K. et al. 2012. The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiology of Aging 33(1), pp. 209.e3-209.e8. (10.1016/j.neurobiolaging.2011.08.005)
• Charlesworth, G. et al. 2012. Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiology of Aging 33(4), pp. 838.e7-838.e11. (10.1016/j.neurobiolaging.2011.11.001)
• Morris, H. R., Waite, A. J., Williams, N. M., Neal, J. W. and Blake, D. J. 2012. Recent advances in the genetics of the ALS-FTLD complex. Current Neurology and Neuroscience Reports 12(3), pp. 243-250. (10.1007/s11910-012-0268-5)

2011

• Hinney, A. et al. 2011. Genome-wide association study in German patients with attention deficit/hyperactivity disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156(8), pp. 888-897. (10.1002/ajmg.b.31246)
• Cardno, A. G. et al. 2011. A genomewide linkage study of age at onset in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156B(8), pp. 929-940. (10.1002/ajmg.1404)
• Renton, A. et al. 2011. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2), pp. 257-268. (10.1016/j.neuron.2011.09.010)
• 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)
• Williams, N. M. 2011. Molecular mechanisms in 22q11 deletion syndrome. Schizophrenia Bulletin 37(5), pp. 882-889. (10.1093/schbul/sbr095)
• Chen, J. et al. 2011. Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia. Schizophrenia Research 131(1-3), pp. 43-51.
• Chen, J. et al. 2011. Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia. Schizophrenia Research 131(1-3), pp. 43-51. (10.1016/j.schres.2011.06.023)
• 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)
• Stergiakouli, E. et al. 2011. Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder. Genes Brain and Behavior 10(3), pp. 334-344. (10.1111/j.1601-183x.2010.00672.x)
• Pearson, J. P. et al. 2011. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. Journal of Neurology 258(4), pp. 647-655. (10.1007/s00415-010-5815-x)
• O'Dushlaine, C. et al. 2011. Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. Molecular Psychiatry 16(3), pp. 286-292. (10.1038/mp.2010.7)
• Nalls, M. A. et al. 2011. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet 377(9766), pp. 641-649. (10.1016/S0140-6736(10)62345-8)
• Morris, H. R., Pearson, J. P., Williams, N. M., Wickremaratchi, M., International Parkinson's Disease Genomics Consortium (IPDGC), . and Wellcome Trust Case Control Consortium (WTCCC), . 2011. A two-stage meta-analysis identifies several new loci for Parkinson's Disease. PLoS Genetics 7(6), article number: e1002142. (10.1371/journal.pgen.1002142)
• Bridges, M. et al. 2011. Genetic classification of populations using supervised learning. PLoS ONE 6(5), article number: e14802. (10.1371/journal.pone.0014802)
• Williams, N. M., O'Donovan, M. C., Owen, M. J. and Thapar, A. 2011. Structural variations in attention-deficit hyperactivity disorder - Authors' reply [Letter]. The Lancet 377(9763), pp. 378. (10.1016/S0140-6736(11)60121-9)
• Hamshere, M. L. et al. 2011. Phenotype evaluation and genomewide linkage study of clinical variables in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156(8), pp. 929-940. (10.1002/ajmg.b.31240)
• Langley, K. et al. 2011. Clinical and cognitive characteristics of children with attention-deficit hyperactivity disorder, with and without copy number variants. British Journal of Psychiatry 199(5), pp. 398-403.

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)
• Williams, N. M. et al. 2010. Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. The Lancet 376(9750), pp. 1401-1408. (10.1016/S0140-6736(10)61109-9)
• Pearson, J. P. et al. 2010. Prevalence of mutations in Parkin, PINK1, and DJ-1 in early onset Parkinson's Disease - a community based and regional study [Conference Abstract]. Movement Disorders 25(3), pp. S610-S610.
• Allison, D. B. et al. 2010. Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genetics 6(9), article number: e1001097. (10.1371/journal.pgen.1001097)
• Newsway, V. E. et al. 2010. Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Movement Disorders 25(6), pp. 767-770. (10.1002/mds.22950)
• Hinton, E. C., Isles, A. R., Williams, N. M. and Parkinson, J. A. 2010. Excessive appetitive arousal in Prader–Willi syndrome. Appetite 54(1), pp. 225-228. (10.1016/j.appet.2009.12.002)
• Mantripragada, K. K., Carroll, L. S. and Williams, N. M. 2010. Experimental approaches for identifying schizophrenia risk genes. Current Topics in Behavioral Neuroscience 4, pp. 587-610. (10.1007/7854_2010_58)
• Ikeda, M. et al. 2010. Failure to confirm association between PIK4CA and psychosis in 22q11.2 deletion syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153B(4), pp. 980-982. (10.1002/ajmg.b.31060)
• Neale, B. M. et al. 2010. Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. Journal of the American Academy of Child & Adolescent Psychiatry 49(9), pp. 884-897. (10.1016/j.jaac.2010.06.008)
• Spencer, C. C. A. et al. 2010. Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Human Molecular Genetics 20(2), pp. 345-353. (10.1093/hmg/ddq469)

2009

• Liu, Y. et al. 2009. Whole genome association study in a homogenous population in Shandong Peninsula of China reveals JARID2 as a susceptibility gene for schizophrenia. Journal of Biomedicine and Biotechnology, article number: 536918. (10.1155/2009/536918)
• Ng, M. Y. M. et al. 2009. Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Molecular Psychiatry 14(8), pp. 774-785. (10.1038/mp.2008.135)
• Holmans, P. A. et al. 2009. Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms. Molecular Psychiatry 14(8), pp. 786-795. (10.1038/mp.2009.11)
• 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)
• Purcell, S. M. et al. 2009. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460(7256), pp. 748-752. (10.1038/nature08185)
• Wickremaratchi, M. M. et al. 2009. Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome [Letter]. Movement Disorders 24(1), pp. 138-140. (10.1002/mds.22181)
• Carroll, L. S., Kendall, K., O'Donovan, M. C., Owen, M. J. and Williams, N. M. 2009. Evidence that putative ADHD low risk alleles atSNAP25may increase the risk of schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 150B(7), pp. 893-899. (10.1002/ajmg.b.30915)
• Dwyer, S. L., Carroll, L. S., Mantripragada, K. K., Owen, M. J., O'Donovan, M. C. and Williams, N. M. 2009. Mutation screening of the DTNBP1 exonic sequence in 669 schizophrenics and 710 controls using high-resolution melting analysis. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153B(3), pp. 766-774. (10.1002/ajmg.b.31045)
• Wardle, M., Majounie, E., Muzaimi, M. B., Williams, N. M., Morris, H. R. and Robertson, N. 2009. The genetic aetiology of late-onset chronic progressive cerebellar ataxia. Journal of Neurology 256(3), pp. 343-348. (10.1007/s00415-009-0015-2)
• Gerrish, A., Williams, H. J., Escott-Price, V., Owen, M. J., O'Donovan, M. C. and Williams, N. M. 2009. An examination of MUTED as a schizophrenia susceptibility gene [Letter]. Schizophrenia Research 107(1), pp. 110-111. (10.1016/j.schres.2008.08.011)

2008

• Georgieva, L. et al. 2008. Support for Neuregulin 1 as a susceptibility gene for Bipolar disorder and schizophrenia. Biological psychiatry 64(5), pp. 419-427. (10.1016/j.biopsych.2008.03.025)
• Sutrala, S. R., Norton, N., Williams, N. M. and Buckland, P. R. 2008. Gene copy number variation in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147B(5), pp. 606-611. (10.1002/ajmg.b.30645)
• 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. 2008. Analysis of copy number variation using quantitative interspecies competitive PCR. Nucleic Acids Research 36(17), pp. e112-e112. (10.1093/nar/gkn495)
• Stone, J. L. et al. 2008. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455(7210), pp. 237-241. (10.1038/nature07239)
• Wardle, M., Majounie, E., Williams, N. M., Rosser, A. E., Morris, H. R. and Robertson, N. 2008. Dentatorubral pallidoluysian atrophy in South Wales. Journal of Neurology, Neurosurgery and Psychiatry 79(7), pp. 804-807. (10.1136/jnnp.2007.128074)
• Bray, N. J. et al. 2008. Cis- and trans- loci influence expression of the schizophrenia susceptibility gene DTNBP1. Human Molecular Genetics 17(8), pp. 1169-1174. (10.1093/hmg/ddn006)
• 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)
• Nair, S. et al. 2008. Further evidence for the association of MMP9 with nephropathy in type 2 diabetes and application of DNA pooling technology to candidate gene screening. Journal of Nephology 21(3), pp. 400-405.

2007

• 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)
• Majounie, E., Wardle, M., Muzaimi, M., Cross, W. C., Robertson, N., Williams, N. M. and Morris, H. R. 2007. Case control analysis of repeat expansion size in ataxia. Neuroscience Letters 429(1), pp. 28-32. (10.1016/j.neulet.2007.09.055)
• Zammit, S., Spurlock, G., Williams, H., Norton, N., Williams, N. M., O'Donovan, M. C. and Owen, M. J. 2007. Genotype effects of CHRNA7, CNR1 and COMT in schizophrenia: interactions with tobacco and cannabis use. British Journal of Psychiatry 191(5), pp. 402-407. (10.1192/bjp.bp.107.036129)
• Sutrala, S. et al. 2007. Gene copy number variation in schizophrenia. Schizophrenia Research 96(1-3), pp. 93-99. (10.1016/j.schres.2007.07.029)
• 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)

2006

• 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)
• Bray, N. J. et al. 2006. Cis- and trans-acting loci influence expression of DTNBP1, a susceptibility gene for schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141B(7), pp. 723-724.
• 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)
• Talkowski, M. E. et al. 2006. Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples. Biological psychiatry 60(2), pp. 152-162. (10.1016/j.biopsych.2006.02.015)
• Paylor, R. et al. 2006. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome. Proceedings of the National Academy of Sciences of the United States of America 103(20), pp. 7729-7734. (10.1073/pnas.0600206103)
• Williams, N. M. et al. 2006. Variation at the DAOA/G30 locus influences susceptibility to major mood episodes but not psychosis in schizophrenia and bipolar disorder. Archives of General Psychiatry 63(4), pp. 366-373. (10.1001/archpsyc.63.4.366)
• 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)
• Williams, N. M., O'Donovan, M. C. and Owen, M. J. 2006. Chromosome 22 deletion syndrome and schizophrenia. International Review of Neurobiology 73, pp. 1-27. (10.1016/S0074-7742(06)73001-X)
• Peirce, T. et al. 2006. Convergent evidence for 2 ',3 '-cyclic nucleotide 3 '-phosphodiesterase as a possible susceptibility gene for schizophrenia. Archives of General Psychiatry 63(1), pp. 18-24.
• Norton, N. et al. 2006. Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141B(1), pp. 96-101. (10.1002/ajmg.b.30236)
• Hamshere, M. L. et al. 2006. Genome wide significant linkage in schizophrenia conditioning on occurrence of depressive episodes. Journal of Medical Genetics 43(7), pp. 563-567. (10.1136/jmg.2005.035345)

2005

• Hamshere, M. L. et al. 2005. Genomewide linkage scan in schizoaffective disorder: significant evidence for linkage at 1q42 close to DISC1, and suggestive evidence at 22q11 and 19p13. Archives of general psychiatry 62(10), pp. 1081-1088. (10.1001/archpsyc.62.10.1081)
• Williams, N. M., O'Donovan, M. C. and Owen, M. J. 2005. Is the dysbindin gene (DTNBP1) a susceptibility gene for schizophrenia?. Schizophrenia Bulletin 31(4), pp. 800-805. (10.1093/schbul/sbi061)
• Williams, H. J. et al. 2005. No association between schizophrenia and polymorphisms in COMT in two large samples. American Journal of Psychiatry 162(9), pp. 1736-1738. (10.1176/appi.ajp.162.9.1736)
• Glaser, B. et al. 2005. No association between the putative functional ZDHHC8 single nucleotide polymorphism rs175174 and schizophrenia in large European samples. Biological psychiatry 58(1), pp. 78-80.
• Green, E. K. et al. 2005. Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorder. Archives of general psychiatry 62(6), pp. 642-648. (10.1001/archpsyc.62.6.642)
• 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)
• Norton, N. et al. 2005. No evidence for association between polymorphisms in GRM3 and schizophrenia. BMC Psychiatry 5, article number: 23. (10.1186/1471-244X-5-23)
• Holmans, P. A. et al. 2005. Genome screen for loci influencing age at onset and rate of decline in late onset Alzheimer's disease. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 135B(1), pp. 24-32. (10.1002/ajmg.b.30114)
• Bray, N. J., Preece, A. C., Williams, N. M., Escott-Price, V., Buckland, P. R., Owen, M. J. and O'Donovan, M. C. 2005. Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression. Human Molecular Genetics 14(14), pp. 1947-1954. (10.1093/hmg/ddi199)
• Escott-Price, V., Norton, N., Williams, N. M., Holmans, P. A., Owen, M. J. and O'Donovan, M. C. 2005. Streamlined analysis of pooled genotype data in SNP-based association studies. Genetic Epidemiology 28(3), pp. 273-282. (10.1002/gepi.20062)
• Raybould, R. et al. 2005. Bipolar disorder and polymorphisms in the dysbindin gene (DTNBP1). Biological psychiatry 57(7), pp. 696-701. (10.1016/j.biopsych.2005.01.018)

2004

• Bray, N. J. et al. 2004. Allelic variation in the expression of neuropsychiatric candidate genes [Conference Abstract]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 130B(1), pp. 25-25.
• Peirce, T. R. et al. 2004. Convergent functional genomics, association and linkage analysis suggests 2 ',3 '-cyclic nucleotide 3 '-phosphodiesterase (CNP) as a potential susceptibility gene for schizophrenia [Conference Abstract]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 130B(1), pp. 81-81. (10.1002/ajmg.b.30101)
• 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.
• Mowry, B. J. et al. 2004. Multicenter linkage study of schizophrenia loci on chromosome 22q. Molecular Psychiatry 9(8), pp. 784-795. (10.1038/sj.mp.4001481)
• Morris, D. et al. 2004. Association analysis of two candidate phospholipase genes that map to the chromosome 15q15.1-15.3 region associated with reading disability. American Journal Of Medical Genetics Part A 129B(1), pp. 97-103. (10.1002/ajmg.b.30033)
• Williams, N. M. and Owen, M. J. 2004. Genetic abnormalities of chromosome 22 and the development of psychosis. Current Psychiatry Reports 6(3), pp. 176-182. (10.1007/s11920-004-0062-4)
• Kirov, G. et al. 2004. Strong evidence for association between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia in 488 parent-offspring trios from Bulgaria. Biological psychiatry 55(10), pp. 971-975. (10.1016/j.biopsych.2004.01.025)
• Monslow, J. et al. 2004. Identification and analysis of the promoter region of the human hyaluronan synthase 2 gene. The Journal of Biological Chemistry 279(20), pp. 20576-20581. (10.1074/jbc.M312666200)
• Owen, M. J., Williams, N. M. and O'Donovan, M. C. 2004. Dysbindin-1 and schizophrenia: from genetics to neuropathology. The Journal of Clinical Investigation 113(9), pp. 1255-1257. (10.1172/JCI200421470)
• 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. Support for RGS4 as a susceptibility gene for schizophrenia. Biological Psychiatry 55(2), pp. 192-195. (10.1016/j.biopsych.2003.11.002)
• 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)
• Owen, M. J., Williams, N. M. and O'Donovan, M. C. 2004. The molecular genetics of schizophrenia: new findings promise new insights. Molecular Psychiatry 9(1), pp. 14-27. (10.1038/sj.mp.4001444)
• Turic, D. et al. 2004. Follow-up of genetic linkage findings on chromosome 16p13: evidence of association of N-methyl-D aspartate glutamate receptor 2A gene polymorphism with ADHD. Molecular Psychiatry 9(2), pp. 169-173. (10.1038/sj.mp.4001387)
• Norton, N., Williams, N. M., O'Donovan, M. C. and Owen, M. J. 2004. DNA pooling as a tool for large-scale association studies in complex traits. Annals of Medicine 36(2), pp. 146-152. (10.1080/07853890310021724)

2003

• Williams, N. M. et al. 2003. A systematic genomewide linkage study in 353 sib pairs with schizophrenia. The American journal of human genetics 73(6), pp. 1355-1367. (10.1086/380206)
• Ivanov, D. et al. 2003. Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis: Molecular genetic study. The British Journal of Psychiatry 183(5), pp. 409-413. (10.1192/bjp.183.5.409)
• O'Donovan, M. C., Williams, N. M. and Owen, M. J. 2003. Recent advances in the genetics of schizophrenia. Human Molecular Genetics 12(suppl), pp. R125-R133. (10.1093/hmg/ddg302)
• Kirov, G. et al. 2003. Variation in the protocadherin - A gene cluster?. Genomics 82(4), pp. 433-440. (10.1016/S0888-7543(03)00167-8)
• Monslow, J. et al. 2003. The human hyaluronan synthase genes: genomic structures, proximal promoters and polymorphic microsatellite markers. The International Journal of Biochemistry & Cell Biology 35(8), pp. 1272-1283. (10.1016/S1357-2725(03)00048-7)
• Norton, N. et al. 2003. Mutation screening of the Homer gene family and association analysis in schizophrenia. American Journal of Medical Genetics 120B(1), pp. 18-21. (10.1002/ajmg.b.20032)
• Bray, N. J., Buckland, P. R., Williams, N. M., Williams, H. J., Norton, N., Owen, M. J. and O'Donovan, M. C. 2003. A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. The American Journal of Human Genetics 73(1), pp. 152-161. (10.1086/376578)
• Williams, H. et al. 2003. Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia. American Journal of Medical Genetics 120B(1), pp. 42-46. (10.1002/ajmg.b.20049)
• Williams, H. J. et al. 2003. Association between PRODH and schizophrenia is not confirmed. Molecular Psychiatry 8(7), pp. 644-645. (10.1038/sj.mp.4001276)
• Lewis, C. M. et al. 2003. Genome scan meta-analysis of schizophrenia and bipolar disorder, Part II: schizophrenia. American Journal of Human Genetics 73(1), pp. 34-48. (10.1086/376549)
• Rahman, N. et al. 2003. Ehlers-Danlos sndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. The American Journal of Human Genetics 73(1), pp. 198-204. (10.1086/376416)
• Williams, N. M. et al. 2003. Support for genetic variation in neuregulin 1 and susceptibility to schizophrenia. Molecular Psychiatry 8(5), pp. 485-487. (10.1038/sj.mp.4001348)
• Jordan, N., Williams, N. M., Gregory, J. W., Evans, C., Owen, M. J. and Ludgate, M. E. 2003. The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. Journal of Clinical Endocrinology & Metabolism 88(3), pp. 1002-5. (10.1210/jc.2002-021301)
• Turic, D. et al. 2003. Linkage disequilibrium mapping provides further evidence of a gene for reading disability on chromosome 6p21.3-22. Molecular Psychiatry 8(2), pp. 176-185. (10.1038/sj.mp.4001216)

2002

• McEntagart, M. et al. 2002. Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness. Journal of Neurology, Neurosurgery & Psychiatry 73(6), pp. 762. (10.1136/jnnp.73.6.762)
• Bray, N. J., Buckland, P. R., Williams, H., Norton, N., Williams, N. M., Owen, M. J. and O'Donovan, M. C. 2002. Detection of cis-acting polymorphisms and epigenetic modification affecting gene expression [Conference Abstracts]. American Journal of Medical Genetics 114(7), pp. 750-750. (10.1002/ajmg.10971)
• Rahman, N. et al. 2002. The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21. The American Journal of Human Genetics 71(4), pp. 975-980. (10.1086/342776)
• Richards, A. J. et al. 2002. Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. Journal of Medical Genetics 39(9), pp. 661-665. (10.1136/jmg.39.9.661)
• Norton, N. et al. 2002. Schizophrenia and functional polymorphisms in the MAOA and COMT genes: No evidence for association or epistasis. American Journal Of Medical Genetics Part A 114(5), pp. 491-496. (10.1002/ajmg.10517)
• Norton, N. et al. 2002. Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools. Human Genetics 110(5), pp. 471-478. (10.1007/s00439-002-0706-6)
• Levinson, D. F. et al. 2002. No major schizophrenia locus detected on chromosome 1q in a large multicenter sample. Science 296(5568), pp. 739-741. (10.1126/science.1069914)
• Myers, A. et al. 2002. Full genome screen for Alzheimer disease: Stage II analysis. American Journal Of Medical Genetics Part A 114(2), pp. 235-244. (10.1002/ajmg.10183)
• Anney, R. et al. 2002. Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia. Molecular psychiatry 7(5), pp. 493-502. (10.1038/sj.mp.4001003)
• Williams, N. M. et al. 2002. Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach. Molecular Psychiatry 7(10), pp. 1092-1100. (10.1038/sj.mp.4001188)
• Williams, N. M. et al. 2002. Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor. Molecular Psychiatry 7(5), pp. 508-514. (10.1038/sj.mp.4001030)
• Williams, N. M., O'Donovan, M. C. and Owen, M. J. 2002. Genome scans and microarrays: converging on genes for schizophrenia?. Genome Biology 3(4), pp. Reviews1011-Reviews1011.5.
• Bennett, P. et al. 2002. The Wellcome trust UK-Irish bipolar affective disorder sibling-pair genome screen: first stage report. Molecular Psychiatry 7(2), pp. 189-200. (10.1038/sj.mp.4000957)

2001

• Sklar, P. et al. 2001. Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls. Nature Genetics 28(2), pp. 126-128. (10.1038/88836)
• Bowen, T. et al. 2001. Mutation screening of the KCNN3 gene reveals a rare frameshift mutation [Letter]. Molecular Psychiatry 6(3), pp. 259-260. (10.1038/sj.mp.4000128)
• McEntagart, M. et al. 2001. Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. American Journal of Human Genetics 68(5), pp. 1270-1276. (10.1086/320122)

2000

• Austin, J. et al. 2000. The high affinity neurotensin receptor gene (NTSR1): comparative sequencing and association studies in schizophrenia. Molecular Psychiatry 5(5), pp. 552-557. (10.1038/sj.mp.4000761)
• Levinson, D. F. et al. 2000. Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III. American Journal of Human Genetics 67(3), pp. 652-663. (10.1086/303041)
• Murphy, K. C. et al. 2000. Chromosome 22q, velo-cardio-facial syndrome (VCFS) and schizophrenia. Journal of Medical Genetics 37, pp. S58-S58.
• Walters, S. E., Williams, N. M., Spurlock, G., Sanders, R. D., McCarthy, G. M., Cardno, A. G. and Owen, M. J. 2000. Identification of a polymorphism in the human NURR1 gene and investigation of an association with schizophrenia. American Journal of Medical Genetics 96(4), pp. 535-535.
• Bray, N. J. et al. 2000. No evidence for association between a non-synonymous polymorphism in the gene encoding human metabotropic glutamate receptor 7 and schizophrenia. Psychiatric Genetics 10(2), pp. 83-86. (10.1097/00041444-200010020-00005)
• Morris, D. W. et al. 2000. Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q. Human Molecular Genetics 9(5), pp. 843-848. (10.1093/hmg/9.5.843)
• Austin, J. et al. 2000. Association analysis of the proneurotensin gene and bipolar disorder. Psychiatric Genetics 10(1), pp. 51-54. (10.1097/00041444-200010010-00009)
• Austin, J. et al. 2000. Comparative sequencing of the proneurotensin gene and association studies in schizophrenia. Molecular Psychiatry 5(2), pp. 208-212. (10.1038/sj.mp.4000693)
• Kirov, G., Stephens, M., Williams, N. M., O'Donovan, M. C. and Owen, M. J. 2000. Automated genotyping of single-nucleotide polymorphisms by extension of fluorescently labelled primers: analysis of individual and pooled DNA samples. Balkan Journal of Medical Genetics 3, pp. 23-28.
• Kirov, G., Williams, N. M., Sham, P., Craddock, N. J. and Owen, M. J. 2000. Pooled genotyping of microsatellite markers in parent-offspring trios. Genome Research 10(1), pp. 105-115.
• Hoogendoorn, B. et al. 2000. Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools. Human Genetics 107(5), pp. 488-493. (10.1007/s004390000397)

1999

• Williams, N. M. et al. 1999. A two-stage genome scan for schizophrenia susceptibility genes in 196 affected sibling pairs. Human Molecular Genetics 8(9), pp. 1729-1739. (10.1093/hmg/8.9.1729)
• Norton, N. et al. 1999. No evidence for association between schizophrenia and MAO-A promoter polymorphism. Molecular Psychiatry 4, pp. S96-S96.
• Williams, N. M., Bowen, T., Kirov, G., Williams, H., Hoogendorn, B., Asherson, P. and Owen, M. J. 1999. Polymorphism screening and association studies of the Wolfram syndrome gene in schizophrenia. Molecular Psychiatry 4(supp1), pp. S42-S42.
• Rees, M. I. et al. 1999. Autosome search for schizophrenia susceptibility genes in multiply affected families. Molecular Psychiatry 4(4), pp. 353-359. (10.1038/sj.mp.4000521)
• Cardno, A. G. et al. 1999. CAG repeat length in the hKCa3 gene and symptom dimensions in schizophrenia. Biological Psychiatry 45(12), pp. 1592-1596. (10.1016/s0006-3223(99)00033-5)
• Fisher, P. J. et al. 1999. DNA pooling identifies QTLs on chromosome 4 for general cognitive ability in children. Human Molecular Genetics 8(5), pp. 915-922. (10.1093/hmg/8.5.915)
• Guy, C. et al. 1999. No association between a polymorphic CAG repeat in the human potassium channel gene hKCa3 and bipolar disorder. American Journal of Medical Genetics 88(1), pp. 57-60. (10.1002/(sici)1096-8628(19990205)88:1%3C57::aid-ajmg10%3E3.0.co;2-6)
• Kehoe, P. et al. 1999. A full genome scan for late onset Alzheimer's disease. Human Molecular Genetics 8(2), pp. 237-245. (10.1093/hmg/8.2.237)
• Kehoe, P. G. et al. 1999. Variation in DCP1, encoding ACE, is associated with susceptibility to Alzheimer disease. Nature Genetics 21(1), pp. 71-72. (10.1038/5009)
• Hoogendoorn, B., Owen, M. J., Oefner, P. J., Williams, N. M., Austin, J. and O'Donovan, M. C. 1999. Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography. Human Genetics 104(1), pp. 89-93. (10.1007/s004390050915)

1998

• Spurlock, G., Williams, N. M., Williams, H. and Owen, M. J. 1998. Polymorphism screening of the human type 1 sigma (sigma) receptor (a candidate gene for schizophrenia) using a modified dideoxy fingerprinting technique.. American Journal of Medical Genetics 81(6), pp. 525-526.
• Williams, N. M., Fenton, I. and Owen, M. J. 1998. PsycheMap - An interactive Internet-based database of psychiatric genetics linkage, association, and genome mapping projects. American Journal of Medical Genetics 81(6), pp. 463-464.
• Fisher, P. J. et al. 1998. DNA pooling for genomic scanning - Application to an association study. American Journal of Medical Genetics 81(6), pp. 469-469.
• Williams, N. M., Kirov, G., Craddock, N. J. and Owen, M. J. 1998. Screening the critical region on chromosome 4p with DNA pooling for association with bipolar disorder. American Journal of Medical Genetics 81(6), pp. 486-486.
• Hill, L. et al. 1998. QTLs for general cognitive ability in children: DNA pooling for chromosome 22. American Journal of Medical Genetics 81(6), pp. 486-486.
• Wu, W. S. et al. 1998. Genetic studies on chromosome 12 in late-onset Alzheimer disease. JAMA - The Journal of the American Medical Association 280(7), pp. 619-622. (10.1001/jama.280.7.619)
• Asherson, P. et al. 1998. A study of chromosome 4p markers and dopamine D5 receptor gene in schizophrenia and bipolar disorder. Molecular Psychiatry 3(4), pp. 310-320. (10.1038/sj.mp.4000399)
• Daniels, J., Holmans, P. A., Williams, N. M., Turic, D., McGuffin, P., Plomin, R. and Owen, M. J. 1998. A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies. American Journal of Human Genetics 62(5), pp. 1189-1197. (10.1086/301816)
• Bowen, T. et al. 1998. Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia. Molecular Psychiatry 3(3), pp. 266-269. (10.1038/sj.mp.4000400)
• Murphy, K. C., Williams, N. M., Cardno, A. G., Jones, L. A., Holmans, P. A., McGuffin, P. and Owen, M. J. 1998. A linkage study of chromosome 22q in SIB-pairs with schizophrenia. Schizophrenia Research 29(1-2), pp. 131-132. (10.1016/S0920-9964(97)88632-X)

1997

• Baboolal, K., Ravine, D., Daniels, J., Williams, N. M., Holmans, P. A., Coles, G. A. and Williams, J. D. 1997. Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease. Kidney International 52(3), pp. 607-613. (10.1038/ki.1997.373)
• Williams, N. M., Cardno, A. G., Murphy, K. C., Jones, L. A., Asherson, P., McGuffin, P. and Owen, M. J. 1997. Association between schizophrenia and a microsatellite polymorphism at the dopamine D5 receptor gene. Psychiatric Genetics 7(2), pp. 83-85. (10.1097/00041444-199722000-00005)
• Daniels, J. K. et al. 1997. Linkage study of chromosome 6p in sib-pairs with schizophrenia. American Journal of Medical Genetics 74(3), pp. 319-323. (10.1002/(SICI)1096-8628(19970531)74:3<319::AID-AJMG14>3.0.CO;2-R)
• Williams, N. M. et al. 1997. No evidence for an allelic association between schizophrenia and markers D22S278 and D22S283. American Journal of Medical Genetics 74(1), pp. 37-39. (10.1002/(SICI)1096-8628(19970221)74:1<37::AID-AJMG8>3.0.CO;2-S)
• Thomas, N. S. T. et al. 1997. Molecular genetic studies in familial Rett syndrome. European Child & Adolescent Psychiatry 6(Supp 1), pp. 94-94.

1996

• Craddock, N. J., Daniels, J., Holmans, P. A., Williams, N. M. and Owen, M. J. 1996. Increasing the efficiency of genomic searches for linkage in complex disorders by DNA pooling of affected sib-pairs. Molecular Psychiatry 1(1), pp. 59-64.
• Daniels, J. K. et al. 1996. No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol O-methyltransferase activity. American Journal of Psychiatry 153(2), pp. 268-270. (10.1176/ajp.153.2.268)
• Lin, M. W. et al. 1996. Suggestive evidence for linkage of schizophrenia to markers on chromosome 13q14.1-q32. Cytogenetics and Cell Genetics 75, pp. 2-3.

1995

• Lin, M. W. et al. 1995. Suggestive evidence for linkage of schizophrenia to markers on chromosome 13q14.1-q32. Psychiatric Genetics 5(3), pp. 117-126. (10.1097/00041444-199505030-00004)
• Craddock, N. J., Roberts, Q., Williams, N. M., McGuffin, P. and Owen, M. . J. 1995. Association study of bipolar disorder using a functional polymorphism (Ser311-->Cys) in the dopamine D2 receptor gene. Psychiatric Genetics 5(2), pp. 63-65.

1994

• Asherson, P., Williams, N. M., Roberts, E., McGuffin, M. and Owen, M. J. 1994. DRD2 Ser311/Cys311 polymorphism in schizophrenia. The Lancet 343(8904), pp. 1045-1045.