about
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thicknessPossible ancestral structure in human populationsThe pattern of polymorphism in Arabidopsis thalianaThe Evolution of Selfing in Arabidopsis thalianaDetecting ancient admixture and estimating demographic parameters in multiple human populationsRHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndromeRP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophyDYX1C1 is required for axonemal dynein assembly and ciliary motilityExome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasiaConstitutional mutations in RTEL1 cause severe dyskeratosis congenitaA missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaBiallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesisPhosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damageMutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystoniaImputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studiesShared and distinct genetic variants in type 1 diabetes and celiac diseaseExome sequencing identifies MPL as a causative gene in familial aplastic anemiaGenome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controlsGenome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetesRobust associations of four new chromosome regions from genome-wide analyses of type 1 diabetesMeta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.Recursive splicing in long vertebrate genes.Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fissionAtlas of the clinical genetics of human dilated cardiomyopathyCryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-αNeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseasesAutosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationBayesian test for colocalisation between pairs of genetic association studies using summary statisticsPopulation genomics of cardiometabolic traits: design of the University College London-London School of Hygiene and Tropical Medicine-Edinburgh-Bristol (UCLEB) ConsortiumExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementUse of targeted exome sequencing as a diagnostic tool for Familial HypercholesterolaemiaGenome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNPBiallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyGenome-wide association analysis of autoantibody positivity in type 1 diabetes cases.Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Vincent Plagnol
@ast
Vincent Plagnol
@en
Vincent Plagnol
@es
Vincent Plagnol
@fr
Vincent Plagnol
@nl
Vincent Plagnol
@sl
type
label
Vincent Plagnol
@ast
Vincent Plagnol
@en
Vincent Plagnol
@es
Vincent Plagnol
@fr
Vincent Plagnol
@nl
Vincent Plagnol
@sl
prefLabel
Vincent Plagnol
@ast
Vincent Plagnol
@en
Vincent Plagnol
@es
Vincent Plagnol
@fr
Vincent Plagnol
@nl
Vincent Plagnol
@sl
P106
P21
P2456
P31
P496
0000-0002-5597-9215
P569
2000-01-01T00:00:00Z