D. Grozeva

D. Grozeva, N. Craddock, K. Gordon-Smith, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia

D. Conrad, C. Barnes, M. Hurles, 2014, Biological Psychiatry.

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

G. Kirov, D. Grozeva, N. Craddock, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Jonathan M. Mudge, Dmitri D. Pervouchine, J. Harrow, 2019, npj Genomic Medicine.

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

Jonathan M. Mudge, Dmitri D. Pervouchine, J. Harrow, 2019, bioRxiv.

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

D. Grozeva, N. Craddock, E. Green, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Genome Wide Linkage Analysis of 972 Bipolar Pedigrees Using Single Nucleotide Polymorphisms

Daniel L. Koller, G. Kirov, D. Grozeva, 2011, Molecular Psychiatry.

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

J. Gallacher, M. Fornage, I. Giegling, 2018, bioRxiv.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

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

D. Grozeva, N. Craddock, M. Leboyer, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

G. Carvill, I. Scheffer, H. Mefford, 2019, American journal of human genetics.

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

Courtney E. French, D. Grozeva, F. Raymond, 2019, Front. Genet..

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia

D. Grozeva, D. Hughes, F. Raymond, 2020, Movement disorders : official journal of the Movement Disorder Society.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Analysis of Alzheimer's disease Polygenic Risk Scores using RNA- sequencing provides further novel biological pathways

D. Grozeva, P. Holmans, V. Escott-Price, 2022, medRxiv.

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

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

D. Grozeva, Hiromi Hirata, R. Guerreiro, 2022, Movement disorders : official journal of the Movement Disorder Society.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Health behaviour change among UK adults during the pandemic: findings from the COVID-19 cancer attitudes and behaviours study

D. Grozeva, G. Moore, J. Townson, 2022, BMC Public Health.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Gail Clement, Jie Huang, Antonio Ciampi, 2014, Nature Communications.

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2018, bioRxiv.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

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

D. Grozeva, Robert West, M. Llewelyn, 2022, The Journal of antimicrobial chemotherapy.

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Andrew R. Webster, Topun Austin, Kathleen Stirrups, 2018, Genome Medicine.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Nature Genetics.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2018, bioRxiv.

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

M. Hurles, D. Grozeva, Soo-Mi Park, 2014, American journal of human genetics.

Procalcitonin Evaluation of Antibiotic Use in COVID-19 Hospitalised Patients (PEACH): Protocol for a Retrospective Observational Study

D. Grozeva, D. Shaw, Robert West, 2022, Methods and protocols.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

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

D. Grozeva, M. Gill, M. Hill, 2019, PloS one.

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Laura J. Scott, Naomi R. Wray, Margaret A. Pericak-Vance, 2015, Nature Neuroscience.

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Judy H. Cho, John P. Ferguson, G. Wainrib, 2019, Scientific Reports.

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

D. Conrad, C. Barnes, M. Hurles, 2013, Bipolar disorders.

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

S Purcell, D. Grozeva, M. Gill, 2013, Molecular Psychiatry.

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

D. Conrad, C. Barnes, M. Hurles, 2012, Schizophrenia Research.

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

G. Kirov, D. Grozeva, N. Craddock, 2009, Human molecular genetics.

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

D. Grozeva, K. Gordon-Smith, E. Green, 2013, The Journal of dermatology.

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

Alessandra Renieri, Bernard Keavney, Michael Field, 2015, Human mutation.

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

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mark T. Handley, M. Hurles, D. Grozeva, 2017, Genetics in Medicine.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

UK 10 K Consortium

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2019 .

Phenotypic insights into ADCY5‐associated disease

D. Grozeva, V. Fung, N. Mahant, 2016, Movement disorders : official journal of the Movement Disorder Society.

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

D. Rujescu, G. Kirov, D. Grozeva, 2010, Molecular Psychiatry.

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

D. Grozeva, P. Kind, J. Prendergast, 2021, PloS one.

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

D. Grozeva, J. Veltman, T. O’Connor, 2016, Molecular Psychiatry.

Association at SYNE1 in both bipolar disorder and recurrent major depression

D. Grozeva, N. Craddock, K. Gordon-Smith, 2013, Molecular Psychiatry.

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

S Purcell, D. Grozeva, M. Gill, 2013, Molecular Psychiatry.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Support for Neuregulin 1 as a Susceptibility Gene for Bipolar Disorder and Schizophrenia

G. Kirov, D. Grozeva, M. Owen, 2008, Biological Psychiatry.

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

Bradley P. Coe, M. Pirinen, C. Spencer, 2014, Human molecular genetics.

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

Detelina Grozeva, D. Grozeva, M. Botella, 2018, Front. Genet..

Polygenic dissection of the bipolar phenotype

G. Kirov, D. Grozeva, N. Craddock, 2011, British Journal of Psychiatry.

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

D. Grozeva, N. Craddock, E. Green, 2010, Neuroscience Letters.

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

P. Donnelly, D. Collier, D. Clair, 2008, Molecular Psychiatry.

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

G. Kirov, D. Grozeva, N. Craddock, 2010, Archives of general psychiatry.

Targeted Next Generation Sequencing Analysis of 1000 individuals with Intellectual Disability

Roger E. Stevenson, Alessandra Renieri, Bernard Keavney, 2015 .

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Jonathan M. Mudge, J. Harrow, A. Frankish, 2019, npj Genomic Medicine.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

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

G. Kirov, D. Grozeva, N. Craddock, 2006, Molecular Psychiatry.

P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?

G. Kirov, D. Grozeva, N. Craddock, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

Torsten Baldeweg, Matthew E Hurles, Edward Blair, 2015, The Journal of clinical investigation.

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

M. Fichera, C. Romano, D. Grozeva, 2015, Journal of Human Genetics.

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

T. Peters, D. Grozeva, N. Craddock, 2011, British Journal of Psychiatry.

risk factor for psychosis

Bradley P. Coe, M. Pirinen, C. Freeman, 2014 .

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

G. Kirov, D. Grozeva, N. Craddock, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Variation at the DAOA / G 30 Locus Influences Susceptibility to Major Mood Episodes but Not Psychosis in Schizophrenia and Bipolar Disorder

G. Kirov, D. Grozeva, N. Craddock, 2006 .

Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer’s disease

W. M. van der Flier, A. Uitterlinden, R. Redon, 2021, Alzheimer's & dementia : the journal of the Alzheimer's Association.

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

S. Cichon, A. Georgi, M. Rietschel, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Benefits and Challenges of Rare Genetic Variation in Alzheimer’s Disease

D. Grozeva, R. Sims, G. Menzies, 2019, Current Genetic Medicine Reports.

Cancer symptom experience and help-seeking behaviour during the COVID-19 pandemic in the UK: a cross-sectional population survey

D. Grozeva, J. Waller, G. Moore, 2021, BMJ Open.

Supplementary Material 1) Samples P 2 2) Genotyping and Cnv Calling in the Bulgarian Samples P 5

H. Stefánsson, K. Stefánsson, G. Kirov, 2022 .

Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer’s disease through polygenic risk and RNA sequencing

D. Grozeva, M. O’Donovan, P. Holmans, 2022, Molecular Psychiatry.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Exome sequencing identifies rare damaging variants in the ATP8B4 and ABCA1 genes as novel risk factors for Alzheimer’s Disease

Nick C Fox, Davide, A. Uitterlinden, 2020 .

Exome sequencing identifies novel AD-associated genes.

Nick C Fox, R. Redon, D. Grozeva, 2020, medRxiv.

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

D. Grozeva, H. Bergman, D. Arkadir, 2017, Nature Genetics.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Genome Medicine.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

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

D. Grozeva, N. Craddock, S. Caesar, 2010, Journal of affective disorders.

Intentions to participate in cervical and colorectal cancer screening during the COVID-19 pandemic: A mixed-methods study

D. Grozeva, J. Waller, J. Townson, 2021, Preventive Medicine.

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

P. Matthews, D. Grozeva, N. Craddock, 2013, Psychoneuroendocrinology.

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

Lisa Jones, Peter McGuffin, Nick Craddock, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature.

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

P. Donnelly, C. Spencer, A. Silman, 2007, Nature genetics.

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2023, medRxiv.

Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

Simon C. Potter, C. Spencer, A. Silman, 2007, Nature.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.