List of works - Vincent Plagnol

A Genome-wide Assessment of the Genetic Basis of Type 1 Diabetes

A common single-nucleotide variant in T is strongly associated with chordoma

scientific article

A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes

scientific article

A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity

scientific article

A method to address differential bias in genotyping in large scale association studies

article

A method to address differential bias in genotyping in large-scale association studies

scientific article

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

scientific article

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome

article

A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis.

scientific article

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

scientific article

A robust statistical method for case-control association testing with copy number variation

scientific article published on 07 September 2008

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation inALOX12B

scientific article published on 18 May 2015

Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis

scientific article published in December 2016

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

scientific article published in 2014

Association tests and software for copy number variant data

scientific article

Astrovirus VA1/HMO-C: an increasingly recognized neurotropic pathogen in immunocompromised patients

scientific article

Atlas of the clinical genetics of human dilated cardiomyopathy

scientific article (publication date: 7 May 2015)

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

scientific article (publication date: May 2014)

Bayesian mixture analysis for metagenomic community profiling

scientific article

Bayesian test for colocalisation between pairs of genetic association studies using summary statistics

scientific article (publication date: May 2014)

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

scientific article published on 18 January 2015

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

scientific article published on 23 December 2016

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

scientific article published on 19 July 2018

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina

scientific article published on December 2011

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

scientific article

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy

scientific journal article

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

article

CD226 Gly307Ser association with multiple autoimmune diseases

scientific article published on 30 October 2008

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

scientific article published on 11 September 2015

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

scientific article

Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource

scientific article published on 23 August 2009

Clinical characteristics of early retinal disease due to CDHR1 mutation

scientific article

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

scientific article published on 30 October 2015

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

scientific article

Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

scientific article published on 16 June 2008

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α

scientific article

DYX1C1 is required for axonemal dynein assembly and ciliary motility

scientific article

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration

scientific article

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

scientific article

Detecting ancient admixture and estimating demographic parameters in multiple human populations

scientific article

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

scientific article

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

scientific article

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene ⬇️

scientific article published on December 2015

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus

scientific article published on 13 May 2019

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function

scientific article

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

scientific article

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

scientific article (publication date: May 2013)

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

scientific article

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia

scientific article

Exome sequencing in a family segregating for celiac disease

scientific article

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

scientific article

Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

scientific article

Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia

scientific article published on 31 July 2013

Exome sequencing revealsADAM9mutations in a child with cone-rod dystrophy

Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses

scientific article

F.5. Cell-specific CD25 Expression is Determined by Type 1 Diabetes Associated IL2RA Haplotypes

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

scientific article

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

scientific article

Fluorescence intensity normalisation: correcting for time effects in large-scale flow cytometric analysis.

scientific article

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

scientific article published on 8 February 2013

Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease.

scientific article

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

scientific article

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

scientific article published on January 2010

Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

scientific article

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

scientific article

Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

scientific journal article

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

scientific article

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3

scientific article

Graphical modelling of molecular networks underlying sporadic inclusion body myositis.

scientific article published on 17 April 2013

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

scientific article published on 28 October 2015

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

scientific article published on 3 January 2013

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

scientific article published on 27 March 2014

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

scientific article

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

scientific article

Inflammatory skin and bowel disease linked to ADAM17 deletion

scientific article published in October 2011

Interactions between Idd5.1/Ctla4 and other type 1 diabetes genes

article

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

scientific article

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

scientific article published on 14 September 2012

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

scientific article published in April 2015

Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.

scientific article

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

scientific article

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

scientific article

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

scientific article published on 19 May 2021

Markov chain Monte Carlo without likelihoods

scholarly article

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci

scientific article

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

scientific article

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

scientific article

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa

scientific article published on 11 July 2013

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

scientific article

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

scientific article

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

scientific article

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

scientific article

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

scientific article published on 05 December 2014

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

scientific article

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

scientific article

PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes

scientific article

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

scientific article

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

scientific article published on 20 April 2015

Population genomics of cardiometabolic traits: design of the University College London-London School of Hygiene and Tropical Medicine-Edinburgh-Bristol (UCLEB) Consortium

scientific article (publication date: 2013)

Possible ancestral structure in human populations

scientific article

Possible ancestral structure in human populations

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

scientific article

RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy

scientific article

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome

scientific article

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy

scientific article

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis

scientific article

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene

article

Recombination and linkage disequilibrium in Arabidopsis thaliana.

scientific article

Recursive splicing in long vertebrate genes

scientific article

Relative influences of crossing over and gene conversion on the pattern of linkage disequilibrium in Arabidopsis thaliana

scientific article

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

scientific article

Shared and distinct genetic variants in type 1 diabetes and celiac disease

scientific article

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

scientific journal article

Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13.

scientific article

Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

scientific article published on 23 April 2012

Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration

scientific article published on 16 March 2015

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

scientific article published on 20 September 2012

The Evolution of Selfing in Arabidopsis thaliana

scientific article

The UK10K project identifies rare variants in health and disease

scientific article

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

scientific article published on 25 February 2020

The effect of inhaled IFN-β on worsening of asthma symptoms caused by viral infections. A randomized trial

scientific article

The pattern of polymorphism in Arabidopsis thaliana

scientific article

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype

scientific article published on 30 September 2014

Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

scientific article published on April 2015

Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy

scientific article

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

scientific article (publication date: October 2012)

Validity of the family-based association test for copy number variant data in the case of non-linear intensity-genotype relationship.

scientific article

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

scientific article published on 25 December 2015

Variants génétiques associés au diabète de type 1 et contrôle de l’expression du récepteur de l’IL-2

article published in 2010

Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.

scientific article published on 24 October 2015

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

scientific article

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy

scientific article published on 30 December 2013

List of works by Vincent Plagnol

A Genome-wide Assessment of the Genetic Basis of Type 1 Diabetes

A common single-nucleotide variant in T is strongly associated with chordoma

A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes

A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity

A method to address differential bias in genotyping in large scale association studies

A method to address differential bias in genotyping in large-scale association studies

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome

A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis.

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

A robust statistical method for case-control association testing with copy number variation

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation inALOX12B

Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

Association tests and software for copy number variant data

Astrovirus VA1/HMO-C: an increasingly recognized neurotropic pathogen in immunocompromised patients

Atlas of the clinical genetics of human dilated cardiomyopathy

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

Bayesian mixture analysis for metagenomic community profiling

Bayesian test for colocalisation between pairs of genetic association studies using summary statistics

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

CD226 Gly307Ser association with multiple autoimmune diseases

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource

Clinical characteristics of early retinal disease due to CDHR1 mutation

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Detecting ancient admixture and estimating demographic parameters in multiple human populations

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene ⬇️

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia

Exome sequencing in a family segregating for celiac disease

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia

Exome sequencing revealsADAM9mutations in a child with cone-rod dystrophy

Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses

F.5. Cell-specific CD25 Expression is Determined by Type 1 Diabetes Associated IL2RA Haplotypes

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

Fluorescence intensity normalisation: correcting for time effects in large-scale flow cytometric analysis.

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

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

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3

Graphical modelling of molecular networks underlying sporadic inclusion body myositis.

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

Inflammatory skin and bowel disease linked to ADAM17 deletion

Interactions between Idd5.1/Ctla4 and other type 1 diabetes genes

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia