List of works - Detelina Grozeva

A systematic association mapping on chromosome 6q in bipolar affective disorder--evidence for the melanin-concentrating-hormone-receptor-2 gene as a risk factor for bipolar affective disorder

scientific article published in June 2010

Affective temperaments across the bipolar-unipolar spectrum: examination of the TEMPS-A in 927 patients and controls

scientific article published on 2 November 2009

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

scientific article

Association at SYNE1 in both bipolar disorder and recurrent major depression

scientific article

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

scientific article

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Bipolar Disorder is associated with the rs6971 polymorphism in the gene encoding 18 kDa Translocator Protein (TSPO).

scientific article published on 12 August 2013

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

scientific article

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

scientific article published on 28 December 2016

Copy number variation in bipolar disorder

scientific article published on 06 January 2015

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

scientific article published in May 2017

DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls

scientific article published on 28 March 2011

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

scientific article

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability

scientific article published on 27 March 2014

Erratum: Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC

scholarly article published in Molecular Psychiatry

Erratum: Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype

article

Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha

scientific article published on 29 September 2009

Evidence that a DISC1 frame-shift deletion associated with psychosis in a single family may not be a pathogenic mutation

scientific article published in September 2006

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

scientific article published on 26 July 2016

Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease

scientific article published on 08 July 2019

Genetic heterogeneity according to age at onset in bipolar disorder: a combined positional cloning and candidate gene approach

scientific article

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept

scientific article

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms.

scientific article

Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC.

scientific article

Genome-wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type

scientific article published on 29 August 2017

Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.

scientific article

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

scientific article

Identification of high risk DISC1 protein structural variants in patients with bipolar spectrum disorder

scientific article published on 17 September 2010

Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

scientific article published on 29 November 2011

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

scientific article published on 22 October 2015

Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

scientific article

Microduplications of 16p11.2 are associated with schizophrenia

scientific article

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

scientific article published on 29 October 2010

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

scientific article

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

scientific article

Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorder

scientific article published in June 2005

P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?

scientific article published in December 2009

Phenotypic insights into ADCY5-associated disease.

scientific article published on 08 April 2016

Polygenic dissection of the bipolar phenotype

scientific article

Polymorphism of the 5-HT transporter and response to antidepressants: randomised controlled trial

scientific article

Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia

scientific article published on April 2010

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

scientific article published on 17 July 2013

Reduced burden of very large and rare CNVs in bipolar affective disorder

scientific article published on 16 October 2013

Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample

scientific article published on 16 October 2012

Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype

scientific article

Support for neuregulin 1 as a susceptibility gene for bipolar disorder and schizophrenia

scientific article published on 7 May 2008

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

scientific article published on 29 January 2009

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

scientific article published on 9 September 2015

The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia

scientific article

Variation at the DAOA/G30 locus influences susceptibility to major mood episodes but not psychosis in schizophrenia and bipolar disorder

scientific article published in April 2006

Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder

scientific article published in October 2010

List of works by Detelina Grozeva

A systematic association mapping on chromosome 6q in bipolar affective disorder--evidence for the melanin-concentrating-hormone-receptor-2 gene as a risk factor for bipolar affective disorder

Affective temperaments across the bipolar-unipolar spectrum: examination of the TEMPS-A in 927 patients and controls

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

Association at SYNE1 in both bipolar disorder and recurrent major depression

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Bipolar Disorder is associated with the rs6971 polymorphism in the gene encoding 18 kDa Translocator Protein (TSPO).

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Copy number variation in bipolar disorder

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability

Erratum: Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC

Erratum: Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype

Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha

Evidence that a DISC1 frame-shift deletion associated with psychosis in a single family may not be a pathogenic mutation

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease

Genetic heterogeneity according to age at onset in bipolar disorder: a combined positional cloning and candidate gene approach

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms.

Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC.

Genome-wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type

Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

Identification of high risk DISC1 protein structural variants in patients with bipolar spectrum disorder

Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

Microduplications of 16p11.2 are associated with schizophrenia

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorder

P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?

Phenotypic insights into ADCY5-associated disease.

Polygenic dissection of the bipolar phenotype

Polymorphism of the 5-HT transporter and response to antidepressants: randomised controlled trial

Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

Reduced burden of very large and rare CNVs in bipolar affective disorder

Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample

Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype

Support for neuregulin 1 as a susceptibility gene for bipolar disorder and schizophrenia

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia

Variation at the DAOA/G30 locus influences susceptibility to major mood episodes but not psychosis in schizophrenia and bipolar disorder

Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder