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Dr Detelina Grozeva
Timau a rolau for Detelina Grozeva
Cyswllt Ymchwil - Ystadegau
Trosolwyg
Rwy'n Ystadegydd (Cydymaith Ymchwil) yn y Ganolfan Ymchwil Treialon (CTR). Mae fy nghefndir mewn Ystadegau Meddygol a Geneteg Dynol mewn anhwylderau iechyd meddwl.
Fel ystadegydd treialon yn y CTR, rwy'n gweithio ar ddylunio, dadansoddi ac adrodd treialon rheoledig ar hap mewn ystod o feysydd clinigol gan gynnwys iechyd meddwl, heintiau ac iechyd y boblogaeth.
Rwyf hefyd yn ymwneud fel aelod Annibynnol ar nifer o Bwyllgorau Monitro Data a Llywio Treialon mewn astudiaethau iechyd meddwl.
Rwy'n rhan o Gynllun Datblygu Adolygyddion NIHR (2025-2026).
Cwblheais fy PhD ym Mhrifysgol Caerdydd mewn geneteg ddynol. Roedd fy hyfforddiant ymchwil doethurol ar fath penodol o amrywiad genetig o'r enw amrywiad rhif copi, gan ymchwilio a yw amrywiadau genetig o'r fath yn gysylltiedig ag anhwylder deubegynol a sgitsoffrenia. Yna ymunais â Phrifysgol Caergrawnt i weithio gyda'r Athro Lucy Raymond i nodi a deall achosion genetig Anabledd Deallusol prin difrifol trwy ddadansoddi data dilyniannu cenhedlaeth nesaf carfan fawr o gleifion. Ar wahân i ddod o hyd i achos y clefyd mewn cleifion heb eu diagnosio o'r blaen yn seiliedig ar fwtaniadau hysbys, fe wnaethom hefyd nodi genynnau newydd sy'n cyfrannu at anabledd deallusol. Yn ystod fy swydd ôl-ddoethurol yng Nghaergrawnt, dechreuais ddiddordeb mewn sut y gellir gweithredu darganfyddiadau gwyddonol a thriniaethau newydd i wella iechyd ac ansawdd bywyd cleifion, a dyna pam y dechreuais MSc rhan-amser mewn Ystadegau gyda Chymwysiadau Meddygol ochr yn ochr â fy ymchwil ôl-ddoethurol amser llawn gyda'r bwriad o weithio mewn treialon clinigol. Cyn ymuno â'r CTR yn 2020, cwblheais ail hyfforddiant ôl-ddoethurol ym Mhrifysgol Caerdydd. Roeddwn i'n ymwneud â phrosesu, dadansoddi a dehongli data dilyniannu DNA y genhedlaeth nesaf (~6,000 o gyfranogwyr) er mwyn dadansoddi mecanweithiau moleciwlaidd ac achosion genetig clefyd Alzheimer.
Rwyf wedi cyhoeddi'n helaeth mewn geneteg ddynol, anhwylderau iechyd meddwl ac yn fwy diweddar - canlyniadau o'r astudiaethau rydw i wedi bod yn gweithio arnynt yn y CTR.
Yn y CTR, rwy'n rhan o'r tîm Ystadegau ac ar hyn o bryd rwy'n ymwneud â'r astudiaethau canlynol fel ystadegydd treial:
- SWELL: treial rheoledig ar hap rhwng cenedlaethau ar gyfer atal iselder mewn pobl ifanc mewn perygl teuluol: Sgiliau ar gyfer lles glasoed
- LLEOLIAD: Catheter anesthetig lleol perineural ar ôl treial amputation aelodau isaf mawr
- T1D-Plus: treial heb ddallu cam 2 platfform addasol a gynlluniwyd i sgrinio therapïau cyfunol yn gyflym ac yn effeithlon ar gyfer budd posibl mewn cleifion sydd newydd gael diagnosis o ddiabetes math 1
- Astudiaeth Rhagfynegi Risg: Haeniad Risg ar gyfer anhwylder iselder mawr cynnar
Astudiaethau wedi'u cwblhau:
- PHaCT: Atal Digartrefedd, gwella iechyd i bobl sy'n gadael y carchar: treial rheoli ar hap peilot o ymyrraeth Amser Critigol
- PEACH: Procalcitonin: Gwerthusiad o'r defnydd o wrthfiotigau mewn cleifion COVID-19 yn yr ysbyty
- CABS: COVID Helth ac Astudiaeth Ymddygiad Ceisio Cymorth
- PAN-COVID: Beichiogrwydd a chanlyniadau newyddenedigol i fenywod â COVID-19
Cyhoeddiad
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., article number: 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., article number: 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), 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)
- 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)
- 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)
- 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
- 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)
- 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)
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)
- 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, 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)
- 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.
- 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)
- 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
- 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)
- 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)
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)
Erthyglau
- 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., article number: 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., article number: 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)
- 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), 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)
- 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)
- 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)
- 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)
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Gosodiad
- Grozeva, D. 2010. Copy number variation in bipolar disorder.. PhD Thesis, Cardiff University.
Gwefannau
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Addysgu
Rwyf wedi dysgu ar yr MSc mewn Biowybodeg ac Epidemioleg Genynnol, Prifysgol Caerdydd (2018-2020).
Rwyf wedi goruchwylio myfyrwyr BSc, MPhil a Meddygol/Rhan II Gwyddorau Naturiol (Prifysgolion Caergrawnt a Chaerdydd, 2012-2020).
Bywgraffiad
Swyddi academaidd
2022 - presennol: Cydymaith Ymchwil (Ystadegau), Canolfan Ymchwil Treialon Ymchwil, Prifysgol Caerdydd, Caerdydd
2020 - 2022: Cynorthwy-ydd Ymchwil (Ystadegau), Canolfan Ymchwil Treialon Prifysgol Caerdydd, Caerdydd
2018 - 2020: Biolegydd/Cyswllt Ymchwil Cyfrifiannol, Sefydliad Meddygaeth Seicolegol a Niwrowyddorau Clinigol, Prifysgol Caerdydd, Caerdydd
Prosiect: Geneteg Clefyd Alzheimer
2012 - 2017: dadansoddwr genom/Cydymaith Ymchwil, Adran Geneteg Feddygol, Prifysgol Caergrawnt, Caergrawnt
Prosiect: Geneteg anabledd deallusol
Addysg a chymwysterau
- MSc Ystadegau gyda Chymwysiadau Meddygol (teilyngdod), Ysgol Mathemateg ac Ystadegau, Prifysgol Sheffield, Sheffield
MSc thesis : "Dulliau amcangyfrif maint sampl ar gyfer canlyniadau cyfrif yn RCTs", goruchwyliwr: Yr Athro Stephen Walters, Cyfarwyddwr Dylunio, Treialon ac Ystadegau Adran, Prifysgol Sheffield; Dyfarnwyd gyda Rhagoriaeth - Tystysgrif Graddedigion mewn Ystadegau (teilyngdod), Ysgol Mathemateg ac Ystadegau, Prifysgol Sheffield, Sheffield
- PhD mewn Bioleg Moleciwlaidd/Geneteg: "Copi Nifer Amrywiad mewn Anhwylder Deubegwn", Canolfan MRC mewn Geneteg a Genomeg Niwroseiciatrig, Prifysgol Caerdydd, Caerdydd; a ddyfernir heb unrhyw gywiriadau