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Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF featuresMutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathyGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopiaLDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentNine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive errorNiemann-Pick C disease gene mutations and age-related neurodegenerative disordersMeta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive errorBiochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information.Iron and restless legs syndrome: treatment, genetics and pathophysiology.Intracranial chordoma in a neonate.MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal diseaseGenome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathwaysNovel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosisAbnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutationLeigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortiumAbsence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.Clinical sequencing: is WGS the better WES?Dilution of candidates: the case of iron-related genes in restless legs syndrome.Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium.Folate status and health: challenges and opportunities.Dystrophin under scrutiny.Ophthalmic epidemiology in Europe: the "European Eye Epidemiology" (E3) consortium.Evaluation of the evenness score in next-generation sequencing.Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits.Biomarkers of iron metabolism are independently associated with impaired glucose metabolism and type 2 diabetes: the KORA F4 study.Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes.DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotypeRemark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency.Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.Sampling GWAS subjects from risk populations.Duck hepatitis B virus: cloning and subcloning of the viral genome.Three-generational alkaptonuria in a non-consanguineous family.Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.
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Konrad Oexle
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Konrad Oexle
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