![Detelina Grozeva](https://profiles-cardiff.imgix.net/attachments/3574?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Overview
I am a Statistician (Research Associate) at the Centre for Trials Research (CTR). My background is in both Medical Statistics and Human Genetics.
I completed my PhD in Cardiff University in human genetics. My doctoral research training was on a specific type of genetic variation called copy number variation, investigating if such genetic variants are associated with bipolar disorder and schizophrenia. I then joined Cambridge University to work with Professor Lucy Raymond to identify and understand the genetic causes of severe rare Intellectual Disability by analysing next generation sequencing data of a large cohort of patients. Apart from finding cause of disease in previously undiagnosed patients based on known mutations, we also identified novel genes that contribute to Intellectual disability. During my postdoctoral position in Cambridge, I became interested in how scientific discoveries and novel treatments can be implemented in improving health and quality of life for patients, and that is why I started a part-time MSc in Statistics with Medical Applications alongside my full-time postdoctoral research with a view of working in clinical trials. Before joining the CTR in 2020, I completed a second postdoctoral training in Cardiff University. I was involved in the processing, analysis and interpretation of next generation DNA sequencing data (~6,000 participants) in order to dissect molecular mechanisms and genetic causes of Alzheimer’s disease.
Since transitioning to clinical trials research, I have been working on the design, analysis and reporting of studies in a range of clinical areas including infections, population and mental health and COVID-19.
I have published extensively in human genetics, mental health disorders and more recently - results from the studies that I work on at the CTR.
At the CTR, I am part of the Statistics team and currently I am involved in the following studies as the Trial Statistician:
- Preventing Homelessness, improving health for prison leavers: a pilot randomised controlled trial of a Critical Time intervention (PHaCT)
- Procalcitonin: Evaluation of Antibiotic use in COVID-19 Hospitalised patients (PEACH)
- Randomised control trial of a psychological intervention for the prevention of depression in adolescents (WOLFSON)
Completed studies:
- COVID Health and Help-Seeking Behaviour Study (CABS)
- Pregnancy and Neonatal outcomes for women with COVID-19 (PAN-COVID)
Publication
2024
- 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
- 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), article number: 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, article number: 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. [Online]. medRxiv: Cold Spring Harbor Laboratory. (10.1101/2022.06.29.22276952) Available at: https://doi.org/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, article number: 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), article number: 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), article number: 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), article number: 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. -., article number: 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), article number: 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, article number: 578. (10.3389/fgene.2019.00578)
- Wei, W. et al. 2019. Germline selection shapes human mitochondrial DNA diversity. Science 364(6442), article number: 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., Saad, S., Menzies, G. E. and Sims, R. 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., Langley, C. L., Grozeva, D., Raymond, F. L. and Johnson, D. S. 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), article number: 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., Green, E., Grozeva, D., Tavadia, S., Craddock, N. and Jones, L. 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)
- 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)
- 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)
- 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, article number: 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., Owen, D. R., Grozeva, D., Rabiner, E. A., Matthews, P. M., Craddock, N. J. and Young, A. H. 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)
- 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)
- 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)
2012
- 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)
- 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)
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)
- Williams, H. J. et al. 2011. Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. Human Molecular Genetics 20(2), pp. 387-391. (10.1093/hmg/ddq471)
- Hamshere, M. L. et al. 2011. Polygenic dissection of the bipolar phenotype. British Journal of Psychiatry 198(4), pp. 284-288. (10.1192/bjp.bp.110.087866)
- 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)
- 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. 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Grozeva, D. 2010. Copy number variation in bipolar disorder.. PhD Thesis, Cardiff University.
2009
- 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)
- 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)
- 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)
- 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)
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)
Articles
- 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)
- 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), article number: 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, article number: 1437. (10.1186/s12889-022-13870-x)
- 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)
- 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, article number: 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), article number: 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), article number: e0256181. (10.1371/journal.pone.0256181)
- 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)
- 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)
- 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), article number: 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. -., article number: 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), article number: 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, article number: 578. (10.3389/fgene.2019.00578)
- Wei, W. et al. 2019. Germline selection shapes human mitochondrial DNA diversity. Science 364(6442), article number: 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., Saad, S., Menzies, G. E. and Sims, R. 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., Langley, C. L., Grozeva, D., Raymond, F. L. and Johnson, D. S. 2019. Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. Clinical Genetics 95(2), pp. 334-335. (10.1111/cge.13456)
- 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), article number: 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., Green, E., Grozeva, D., Tavadia, S., Craddock, N. and Jones, L. 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)
- 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)
- 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)
- 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, article number: 7. (10.3389/fgene.2018.00007)
- 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)
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Thesis
- Grozeva, D. 2010. Copy number variation in bipolar disorder.. PhD Thesis, Cardiff University.
Websites
- 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
- 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
- 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
Teaching
I have taught on the MSc in Bioinformatics and Genetic Epidemiology, Cardiff University (2018-2020).
I have supervised BSc, MPhil and Medical/Part II Natural Sciences students (Cambridge and Cardiff Universities, 2012-2020).
Biography
Academic positions
2022 - present: Research Associate (Statistics), Centre for Trials Research, Cardiff University, Cardiff
2020 - 2022: Research Assistant (Statistics), Centre for Trials Research, Cardiff University, Cardiff
2018 - 2020: Computational biologist/Research Associate, Institute of Psychological Medicine & Clinical Neurosciences, Cardiff University, Cardiff
Project: Genetics of Alzheimer’s disease
2012 - 2017: Genome analyst/Research Associate, Department of Medical Genetics, University of Cambridge, Cambridge
Project: Genetics of Intellectual disability
Education and qualifications
- MSc Statistics with Medical Applications (merit), School of Mathematics and Statistics, University of Sheffield, Sheffield
MSc thesis: “Sample Size Estimation Methods for Count Outcomes in RCTs”, supervisor: Prof. Stephen Walters, Director of Design, Trials and Statistics Section, University of Sheffield; awarded with Distinction - Graduate Certificate in Statistics (merit), School of Mathematics and Statistics, University of Sheffield, Sheffield
- PhD in Molecular Biology/Genetics: “Copy Number Variation in Bipolar Disorder”, MRC Centre in Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff; awarded with no corrections