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Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
TLDR
Recessive loss-of-function mutations of ADA2, a growth factor that is the major extracellular adenosine deaminase, can cause polyarteritis nodosa vasculopathy with highly varied clinical expression. Expand
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
TLDR
A genome-wide association study found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q. Expand
Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits
TLDR
Results show substantial positive genetic correlation of insomnia complaints with internalizing personality traits and metabolic traits and negative correlation with subjective well-being and educational attainment and new insight into the genetic architecture of insomnia. Expand
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
TLDR
This work identifies PTPRD as the fourth genome-wide significant locus for RLS, and two independent SNPs in the 5′ UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values. Expand
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
TLDR
DNMT1 is a widely expressed DNA methyltransferase maintaining methylation patterns in development, and mediating transcriptional repression by direct binding to HDAC2, also highly expressed in immune cells and required for the differentiation of CD4+ into T regulatory cells. Expand
Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1
TLDR
Six RLS susceptibility loci of genome-wide significance are identified, two of them novel: an intergenic region on chromosome 2p14 (rs6747972), and a locus on 16q12.1 (rs3104767), a linkage disequilibrium block of 140 kb containing the 5′-end of TOX3 and the adjacent non-coding RNA BC034767. Expand
Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome
TLDR
Evidence is provided for an association of variants in the NOS1 gene and RLS, and the involvement of the NO/arginine pathway in the pathogenesis of RLS suggests the usage of NO modulating agents as new treatment options for RLS. Expand
Biological and clinical insights from genetics of insomnia symptoms
TLDR
Genome-wide association analyses identify 57 loci associated with insomnia symptoms and provide evidence of shared genetic architecture between insomnia and cardiometabolic, behavioral, psychiatric and reproductive traits. Expand
Diagnostic exome sequencing in early‐onset Parkinson's disease confirms VPS13C as a rare cause of autosomal‐recessive Parkinson's disease
TLDR
Despite the low diagnostic yield of exome sequencing in sporadic early‐onset PD, the confirmation of the recently discovered VPS13C gene highlights its advantage over using predefined gene panels. Expand
Replication of restless legs syndrome loci in three European populations
TLDR
Among the known loci, BTBD9 seems to be the most consistent in its effect on RLS across populations and is also most independent of familial clustering. Expand
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