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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
TLDR
A meta-analysis of Crohn’s disease and ulcerative colitis genome-wide association scans is undertaken, followed by extensive validation of significant findings, with a combined total of more than 75,000 cases and controls. Expand
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
TLDR
Moderate powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Expand
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
TLDR
An Austrian family with 16 affected individuals by exome sequencing found a missense mutation, c.1858G>A (p.Asp620Asn), in the VPS35 gene in all seven affected family members who are alive, and found the same variant cosegregating with the disease in an autosomal-dominant mode with high but incomplete penetrance. Expand
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
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
TLDR
The mitochondrial localization together with the immunohistopathological findings suggests a pathomechanistic overlap with common forms of neurodegenerative disorders. Expand
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
TLDR
A meta-analysis of genome-wide association studies and independent data sets genotyped on the Immunochip identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals, and identified five independent signals within previously known loci. Expand
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
TLDR
This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals. Expand
Prolonged release oxycodone–naloxone for treatment of severe restless legs syndrome after failure of previous treatment: a double-blind, randomised, placebo-controlled trial with an open-label
TLDR
Prolonged release oxycodone-naloxone was efficacious for short-term treatment of patients with severe restless legs syndrome inadequately controlled with previous treatment and the safety profile was as expected. Expand
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
TLDR
Using a positional cloning approach, five different heterozygous loss-of-function mutations in the gene for epsilon-sarcoglycan (SGCE) are identified, which is mapped to a refined critical region of about 3.2 Mb and shows a marked difference in penetrance depending on the parental origin of the disease allele. Expand
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