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Mutation in blood coagulation factor V associated with resistance to activated protein C
TLDR
It is demonstrated that the phenotype of APC resistance is associated with hetero-zygosity or homozygosity for a single point mutation in the factor V gene which predicts the synthesis of a factor V molecule that is not properly inactivated by APC. Expand
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
TLDR
The results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date. Expand
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
TLDR
Genotype-phenotype analysis of HHT patients revealed differences between HHT1 and HHT2 and within HHT 1 and H HT2 between men and women, and genetic counselling can be given more accurately when the family mutation is known. Expand
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
TLDR
Exome sequencing for parent-offspring trios with fever-sensitive, intractable epileptic encephalopathy led to the discovery of two de novo missense HCN1 mutations, providing clear evidence that de noVOHCN1 point mutations cause a recognizable early-onset epilepticEncephalopathy in humans. Expand
The phenotypic spectrum of SCN8A encephalopathy
TLDR
SCN8A encephalopathy presents in infancy with multiple seizure types including focal seizures and spasms in some cases, and outcome is often poor and includes hypotonia and movement disorders. Expand
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
TLDR
The present results indicate an involvement of micro deletions at 15q11.2 and 16p13.11 in epileptogenesis and strengthen the evidence that recurrent microdeletions in this cohort confer a pleiotropic susceptibility effect to a broad range of neuropsychiatric disorders. Expand
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
TLDR
The first genome-wide association study in a population of European ancestry including a total of 2,296 individuals with SSc and 5,171 controls identified a new susceptibility locus for systemic sclerosis at CD247 (1q22–23, rs2056626). Expand
Rank truncated product of P‐values, with application to genomewide association scans
TLDR
It is shown that, under realistic scenarios, forming the product of the K most significant P‐values provides increased power to detect genomewide association, while identifying a candidate set of good quality and fixed size for follow‐up studies. Expand
Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease
TLDR
It is demonstrated that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations. Expand
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect
TLDR
A significant and replicable association is reported to a common variant located in intron 28 of the gene myosin IXB (MYO9B), which encodes an unconventionalMyosin molecule that has a role in actin remodeling of epithelial enterocytes, which may explain why immunogenic gluten peptides are able to pass through the epithelial barrier. Expand
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