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A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
The prevalence of dementia in the Western world in people over the age of 60 has been estimated to be greater than 5%, about two-thirds of which are due to Alzheimer’s disease. The age-specificExpand
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Design of phosphodiesterase 4D (PDE4D) allosteric modulators for enhancing cognition with improved safety
Phosphodiesterase 4 (PDE4), the primary cAMP-hydrolyzing enzyme in cells, is a promising drug target for a wide range of conditions. Here we present seven co-crystal structures of PDE4 and boundExpand
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Spread of SARS-CoV-2 in the Icelandic Population
Abstract Background During the current worldwide pandemic, coronavirus disease 2019 (Covid-19) was first diagnosed in Iceland at the end of February. However, data are limited on how SARS-CoV-2, theExpand
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Parental influence on human germline de novo mutations in 1,548 trios from Iceland
The characterization of mutational processes that generate sequence diversity in the human genome is of paramount importance both to medical genetics and to evolutionary studies. To understand howExpand
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A rare variant in MYH6 is associated with high risk of sick sinus syndrome
Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene,Expand
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Large-scale whole-genome sequencing of the Icelandic population
Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). WeExpand
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Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding common variants of smallExpand
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Multi-nucleotide de novo Mutations in Humans
Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of mutation for both single nucleotide variantsExpand
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A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer
In Western countries, prostate cancer is the most prevalent cancer of men and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerousExpand
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Characterization of a cloned subtilisin-like serine proteinase from a psychrotrophic Vibrio species.
The gene encoding a subtilisin-like serine proteinase in the psychrotrophic Vibrio sp. PA44 has been successfully cloned, sequenced and expressed in Escherichia coli. The gene is 1593 basepairs andExpand
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