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Author Details

Detelina Grozeva
2005
72
36
PMIDPaper TitleJournal TitlePublished Year
37541188Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.Am J Hum Genet2023
36577842Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing.2023
35137110Impact 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 Chemotherapy2022
35902822Health behaviour change among UK adults during the pandemic: findings from the COVID-19 cancer attitudes and behaviours study.BMC Public Health2022
35876425MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.Mov Disord2022
35678782Rare pathogenic variants in WNK3 cause X-linked intellectual disability.Genet Med2022
36411364Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.Nat Genet2022
36548137Procalcitonin Evaluation of Antibiotic Use in COVID-19 Hospitalised Patients (PEACH): Protocol for a Retrospective Observational Study.Methods Protoc2022
34531224Cancer symptom experience and help-seeking behaviour during the COVID-19 pandemic in the UK: a cross-sectional population survey.BMJ Open2021
34388204Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.PLoS One2021
34599921Intentions to participate in cervical and colorectal cancer screening during the COVID-19 pandemic: A mixed-methods study.Preventive Medicine2021
30171209Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.Mol Psychiatry2020
32472658DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.Mov Disord2020
31316545Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.Front Genet2019
31814998Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>.NPJ Genom Med2019
30353918Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.Clin Genet2019
30982612Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.Am J Hum Genet2019
30820047Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.Nat Genet2019
29434620Functional Analyses of a Novel Splice Variant in the <i>CHD7</i> Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.Front Genet2018
30345710Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype.American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics2018
30526862Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.Am J Hum Genet2018
30526634Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.Genome Med2018
28041643Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Am J Hum Genet2017
28546572Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.Nat Genet2017
28851079Genome-wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type.Am J Med Genet B Neuropsychiatr Genet2017
27457812Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.Mol Psychiatry2017
27992417Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.Nat Genet2017
28151491Clinical and molecular consequences of disease-associated de novo mutations in SATB2.Genet Med2017
26490184MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.J Hum Genet2016
25560756Copy number variation in bipolar disorder.Mol Psychiatry2016
27061943Phenotypic insights into ADCY5-associated disease.Mov Disord2016
26212592The Association of Interpersonal and Intrapersonal Emotional Experiences with Non-Suicidal Self-Injury in Young Adults.Archives of Suicide Research2015
25705886Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.J Clin Invest2015
26350204Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Hum Mutat2015
24680889De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.Am J Hum Genet2014
24474471An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.Hum Mol Genet2014
23871472Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.Biol Psychiatry2014
23070075Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample.Mol Psychiatry2013
22565781Association at SYNE1 in both bipolar disorder and recurrent major depression.Mol Psychiatry2013
23942012Bipolar Disorder is associated with the rs6971 polymorphism in the gene encoding 18 kDa Translocator Protein (TSPO).Psychoneuroendocrinology2013
23933821Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.Nat Genet2013
24127788Reduced burden of very large and rare CNVs in bipolar affective disorder.Bipolar Disord2013
23356892Novel ATP2A2 mutations in a large sample of individuals with Darier disease.2013
22083728De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.Mol Psychiatry2012
22628130Genetic heterogeneity according to age at onset in bipolar disorder: a combined positional cloning and candidate gene approach.Am J Med Genet B Neuropsychiatr Genet2012
22488967Identification 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 Genetics2012
21769101Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms.Mol Psychiatry2012
22130109Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia.Schizophr Res2012
21972277Polygenic dissection of the bipolar phenotype.Br J Psychiatry2011
21445958DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls.Am J Med Genet B Neuropsychiatr Genet2011
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Institute of Psychiatry, King's College London
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Brigham and Women's Hospital
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Wellcome Sanger Institute
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Institute of Psychiatry, King's College London
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University of North Carolina at Chapel Hill
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Institute of Psychiatry, King's College London
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