Dr Detelina Grozeva

2026

• Quenez, O. et al., 2026. Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk. American Journal of Human Genetics (10.1016/j.ajhg.2026.07.013)
• Williams, A. D. N. et al. 2026. Critical time intervention to prevent homelessness and improve health for people leaving prison: the PHaCT pilot RCT. Public Health Research 14 (15)(10.3310/GJJL2910)

2025

• Williams, A. D. N. et al. 2025. Critical time intervention for people leaving prison at risk of homelessness in England and Wales (PHaCT trial): a pilot feasibility randomised controlled trial.. BMJ Open 15 (12) e097753. (10.1136/bmjopen-2024-097753)
• Williams, A. D. N. et al. 2025. A pilot randomised controlled trial of a critical time intervention for people leaving prison: findings from an integrated process evaluation. BMJ Open 15 (12) e097761. (10.1136/bmjopen-2024-097761)
• Andersen, O. M. et al., 2025. Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease. Molecular Neurodegeneration 20 122. (10.1186/s13024-025-00907-z)
• Euden, J. et al. 2025. Procalcitonin evaluation of antibiotic use in COVID-19 hospitalised patients: the PEACH mixed methods study. Health Technology Assessment 29 (52), pp.1-32. (10.3310/GGFF9393)
• Henley, J. et al. 2025. Procalcitonin to guide antibiotic use during the first wave of COVID-19 in English and Welsh hospitals: integration and triangulation of findings from quantitative and qualitative sources. BMJ Open 15 e093210. (10.1136/bmjopen-2024-093210)
• Chick, S. L. et al. 2025. Whole-exome sequencing analysis identifies risk genes for schizophrenia. Nature Communications 16 (1) 7102. (10.1038/s41467-025-62429-y)
• Rice, F. et al. 2025. Skills for adolescent WELLbeing (SWELL): protocol for a preventive effectiveness randomised controlled trial for young people at high-familial risk of depression with treatment optimisation for parents with depression at study entry comparing online group cognitive behavioural therapy (CBT) with treatment as usual. BMJ Open 15 e100692. (10.1136/bmjopen-2025-100692)

2024

• Sandoe, J. A. T. et al., 2024. A retrospective propensity-score-matched cohort study of the impact of procalcitonin testing on antibiotic use in hospitalized patients during the first wave of COVID-19. Journal of Antimicrobial Chemotherapy 79 (11), pp.2792-2800. dkae246. (10.1093/jac/dkae246)
• Webb, E. J. D. et al., 2024. The cost-effectiveness of procalcitonin for guiding antibiotic prescribing in individuals hospitalized with COVID-19: part of the PEACH study. Journal of Antimicrobial Chemotherapy 79 (8), pp.1831-1842. dkae167. (10.1093/jac/dkae167)
• Lifford, K. J. et al. 2024. Satisfaction with remote consultations in primary care during COVID-19: a population survey of UK adults. British Journal of General Practice 74 (739), pp.e96-e103. (10.3399/BJGP.2023.0092)

2022

• Holstege, H. et al., 2022. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. Nature Genetics 54 (12), pp.1786-1794. (10.1038/s41588-022-01208-7)
• 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)
• Euden, J. et al. 2022. Procalcitonin evaluation of antibiotic use in COVID-19 hospitalised patients (PEACH): protocol for a retrospective observational study. Methods and Protocols 5 (6) 95. (10.3390/mps5060095)
• Reid, K. M. et al., 2022. MED27, SLC6A7, and MPPE1 variants in a complex neurodevelopmental disorder with severe dystonia. Movement Disorders 37 (10), pp.2139-2146. (10.1002/mds.29147)
• Küry, S. et al., 2022. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics in Medicine 24 (9), pp.1941-1951. (10.1016/j.gim.2022.05.009)
• Mullins, E. et al., 2022. Pregnancy and neonatal outcomes of COVID-19: The PAN-COVID study. European Journal of Obstetrics and Gynecology and Reproductive Biology 276 , pp.161-167. (10.1016/j.ejogrb.2022.07.010)
• Anyanwu, P. et al. 2022. Health behaviour change among UK adults during the pandemic: findings from the COVID-19 Cancer Attitudes and Behaviours study. BMC Public Health 22 1437. (10.1186/s12889-022-13870-x)
• Crawford, K. et al., 2022. Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways. medRxiv (10.1101/2022.06.29.22276952)
• Llewelyn, M. J. et al., 2022. Impact of introducing procalcitonin testing on antibiotic usage in acute NHS hospitals during the first wave of COVID-19 in the UK: a controlled interrupted time series analysis of organization-level data. Journal of Antimicrobial Chemotherapy 77 (4), pp.1189-1196. (10.1093/jac/dkac017)

2021

• Wilson, R. et al. 2021. Intentions to participate in cervical and colorectal cancer screening during the COVID-19 pandemic: a mixed-methods study. Preventive Medicine 153 106826. (10.1016/j.ypmed.2021.106826)
• Quinn-Scoggins, H. et al. 2021. Cancer symptom experience and help-seeking behaviour during the COVID-19 pandemic in the United Kingdom: a cross-sectional population survey. BMJ Open 11 (9) e053095. (10.1136/bmjopen-2021-053095)
• Lee, C. et al., 2021. Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. PLoS ONE 16 (8) e0256181. (10.1371/journal.pone.0256181)

2020

• Ng, J. et al., 2020. DNAJC6 mutations disrupt dopamine homeostasis in juvenile parkinsonism-dystonia. Movement Disorders 35 (8), pp.1357-1368. (10.1002/mds.28063)
• Holstege, H. et al., 2020. Exome sequencing identifies novel AD-associated genes. [Online].medRxiv. (10.1101/2020.07.22.20159251)Available at: http://dx.doi.org/10.1101/2020.07.22.20159251.
• Thaventhiran, J. E. D. et al., 2020. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature 583 , pp.90-95. (10.1038/s41586-020-2265-1)
• Turro, E. et al., 2020. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583 (7814), pp.96-102. (10.1038/s41586-020-2434-2)

2019

• Steward, C. A. et al., 2019. Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. npj Genomic Medicine 4 (1) 31. (10.1038/s41525-019-0106-7)
• Romagnoni, A. et al., 2019. Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data. Scientific Reports 9 (1), pp.-. 10351. (10.1038/s41598-019-46649-z)
• 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)
• Sanchis-Juan, A. et al., 2019. Rare genetic variation in 135 families with family history suggestive of x-linked intellectual disability. Frontiers in Genetics 10 578. (10.3389/fgene.2019.00578)
• Wei, W. et al., 2019. Germline selection shapes human mitochondrial DNA diversity. Science 364 (6442) 749. (10.1126/science.aau6520)
• Gorman, K. M. et al., 2019. Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia. American Journal of Human Genetics 104 (5), pp.948-956. (10.1016/j.ajhg.2019.03.005)
• 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)
• Grozeva, D. et al. 2019. Benefits and challenges of rare genetic variation in Alzheimer's disease. Current Genetic Medicine Reports 7 (1), pp.53-62. (10.1007/s40142-019-0161-5)
• Yates, T. M. et al., 2019. Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. Clinical Genetics 95 (2), pp.334-335. (10.1111/cge.13456)

2018

• Sanchis-Juan, A. et al., 2018. Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. Genome Medicine 10 (1) 95. (10.1186/s13073-018-0606-6)
• de Brouwer, A. P. et al., 2018. Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior. American Journal of Human Genetics 103 (6), pp.1045-1052. (10.1016/j.ajhg.2018.10.026)
• Gordon-Smith, K. et al., 2018. Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 (8), pp.717-726. (10.1002/ajmg.b.32679)
• Ito, Y. et al., 2018. De novo truncating mutations in WASF1 cause intellectual disability with seizures. American Journal of Human Genetics 103 (1), pp.144-153. (10.1016/j.ajhg.2018.06.001)
• Whitworth, J. et al., 2018. Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes. American Journal of Human Genetics 103 (1), pp.3-18. (10.1016/j.ajhg.2018.04.013)
• Sims, R. et al. 2018. Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing. [Online].bioRxiv. (10.1101/294629)Available at: https://doi.org/10.1101/294629.
• Villate, O. et al., 2018. Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, Confirm Its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome. Frontiers in Genetics 9 7. (10.3389/fgene.2018.00007)

2017

• Green, E. K. et al., 2017. Genome-wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 174 (8), pp.767-771. (10.1002/ajmg.b.32572)
• Bengani, H. et al., 2017. Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in Medicine 19 (8), pp.900-908. (10.1038/gim.2016.211)
• Meyer, E. et al., 2017. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics 49 , pp.223-237. (10.1038/ng.3740)
• Riazuddin, S. et al., 2017. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Molecular Psychiatry 22 (11), pp.1604-1614. (10.1038/mp.2016.109)
• Carss, K. J. et al., 2017. Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease. American Journal of Human Genetics 100 (1), pp.75-90. (10.1016/j.ajhg.2016.12.003)

2016

• Chang, F. C. F. et al., 2016. Phenotypic insights into ADCY5-associated disease. Movement Disorders 31 (7), pp.1033-1040. (10.1002/mds.26598)

2015

• Grozeva, D. et al. 2015. Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability. Human Mutation 36 (12), pp.1197-1204. (10.1002/humu.22901)
• Bianciardi, L. et al., 2015. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. Journal of Human Genetics 61 (2), pp.95-101. (10.1038/jhg.2015.118)
• Walter, K. et al., 2015. The UK10K project identifies rare variants in health and disease. Nature 526 , pp.82-90. (10.1038/nature14962)
• Baker, K. et al., 2015. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. Journal of Clinical Investigation 125 (4), pp.1670-1678. (10.1172/JCI79765)
• Green, E. K. et al., 2015. Copy number variation in bipolar disorder. Molecular Psychiatry 21 (1), pp.89-93. (10.1038/mp.2014.174)

2014

• Grozeva, D. et al. 2014. De Novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. American Journal of Human Genetics 94 (4), pp.618-624. (10.1016/j.ajhg.2014.03.006)
• Mulle, J. G. et al., 2014. Reciprocal duplication of the Williams-Beuren Syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biological Psychiatry 75 (5), pp.371-7. (10.1016/j.biopsych.2013.05.040)

2013

• Green, E. K. et al. 2013. Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample. Molecular Psychiatry 18 (12), pp.1302-1307. (10.1038/mp.2012.142)
• Grozeva, D. et al. 2013. Reduced burden of very large and rare CNVs in bipolar affective disorder. Bipolar Disorders 15 (8), pp.893-8. (10.1111/bdi.12125)
• Colasanti, A. et al., 2013. Bipolar disorder is associated with the rs6971 polymorphism in the gene encoding 18kDa Translocator Protein (TSPO). Psychoneuroendocrinology 38 (11), pp.2826-9. (10.1016/j.psyneuen.2013.07.007)
• Hamshere, M. L. et al. 2013. Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Molecular Psychiatry 18 (6), pp.708-712. (10.1038/mp.2012.67)
• Green, E. et al., 2013. Novel ATP2A2 mutations in a large sample of individuals with Darier disease. The Journal of Dermatology 40 (4), pp.259-266. (10.1111/1346-8138.12082)
• Green, E. K. et al. 2013. Association at SYNE1 in both bipolar disorder and recurrent major depression. Molecular Psychiatry 18 , pp.614-617. (10.1038/mp.2012.48)
• 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)

2012

• Badner, J. A. et al., 2012. Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. Molecular Psychiatry 17 (8), pp.818-826. (10.1038/mp.2011.89)
• Van Den Bossche, M. J. et al., 2012. Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159B (4), pp.465-475. (10.1002/ajmg.b.32053)
• Grozeva, D. et al. 2012. Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. Schizophrenia Research 135 (1-3), pp.1-7. (10.1016/j.schres.2011.11.004)
• Kirov, G. et al. 2012. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Molecular Psychiatry 17 (2), pp.142-153. (10.1038/mp.2011.154)
• Dizier, M. et al., 2012. Genetic heterogeneity according to age at onset in bipolar disorder: A combined positional cloning and candidate gene approach. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159B (6), pp.653-659. (10.1002/ajmg.b.32069)

2011

• 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)
• Lewis, G. et al., 2011. Polymorphism of the 5-HT transporter and response to antidepressants: randomised controlled trial. British Journal of Psychiatry 198 (6), pp.464-471. (10.1192/bjp.bp.110.082727)
• 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)
• 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)
• Green, E. K. et al. 2011. DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156B (4), pp.490-492. (10.1002/ajmg.b.31187)

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)
• 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)
• Craddock, N. J. et al. 2010. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 464 (7289), pp.713-720. (10.1038/nature08979)
• Grozeva, D. et al. 2010. Rare copy number variants: A point of rarity in genetic risk for bipolar disorder and schizophrenia. Archives of General Psychiatry 67 (4), pp.318-327. (10.1001/archgenpsychiatry.2010.25)
• 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)
• Di Florio, A. et al. 2010. Affective temperaments across the bipolar-unipolar spectrum: examination of the TEMPS-A in 927 patients and controls. Journal of affective disorders 123 (1-3), pp.42-51. (10.1016/j.jad.2009.09.020)
• 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)
• 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)
• Song, W. et al., 2010. Identification of high risk DISC1 protein structural variants in patients with bipolar spectrum disorder. Neuroscience Letters 486 (3), pp.136-140. (10.1016/j.neulet.2010.09.027)

2009

• Kirov, G. et al. 2009. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Human Molecular Genetics 18 (8), pp.1497-1503. (10.1093/hmg/ddp043)
• 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)
• Abou Jamra, R. et al., 2009. A systematic association mapping on chromosome 6q in bipolar affective disorder - evidence for themelanin-concentrating-hormone-receptor-2gene as a risk factor for bipolar affective disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153B (4), pp.878-884. (10.1002/ajmg.b.31051)
• Green, E. K. et al. 2009. P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 150B (8), pp.1063-1069. (10.1002/ajmg.b.30931)
• McCarthy, S. E. et al., 2009. Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics 41 (11), pp.1223-1227. (10.1038/ng.474)

2008

• 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)
• 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)

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)

2006

• Green, E. K. et al., 2006. Evidence that a DISC1 frame-shift deletion associated with psychosis in a single family may not be a pathogenic mutation. Molecular Psychiatry 11 (9), pp.798-799. (10.1038/sj.mp.4001853)

2005

• 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)