Dr Detelina Grozeva

2021

• 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)

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. MedRxiv (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.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), 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.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)
• 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)
• 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. bioRxiv (10.1101/294629)

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)
• 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)