Lista de obras - Vincent Plagnol - Dominio Público Uruguay

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

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

artículo científico publicado en 2015

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Association tests and software for copy number variant data

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Atlas of the clinical genetics of human dilated cardiomyopathy

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Bayesian mixture analysis for metagenomic community profiling

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Clinical characteristics of early retinal disease due to CDHR1 mutation

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

DYX1C1 is required for axonemal dynein assembly and ciliary motility

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Detecting ancient admixture and estimating demographic parameters in multiple human populations

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Exome sequencing in a family segregating for celiac disease

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Exome sequencing revealsADAM9mutations in a child with cone-rod dystrophy

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Graphical modelling of molecular networks underlying sporadic inclusion body myositis.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Inflammatory skin and bowel disease linked to ADAM17 deletion

artículo científico publicado en 2011

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

article

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

artículo científico publicado en 2012

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

artículo científico publicado en 2021

Markov chain Monte Carlo without likelihoods

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Possible ancestral structure in human populations

artículo científico publicado en 2006

Possible ancestral structure in human populations

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

article

Recombination and linkage disequilibrium in Arabidopsis thaliana.

artículo científico publicado en 2007

Recursive splicing in long vertebrate genes

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

The Evolution of Selfing in Arabidopsis thaliana

artículo científico publicado en 2007

The UK10K project identifies rare variants in health and disease

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 2014

The pattern of polymorphism in Arabidopsis thaliana

artículo científico publicado en 2005

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

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Lista de obras de 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