Search Results - "Sigurðsson, Asgeir"
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Spread of SARS-CoV-2 in the Icelandic Population
Published in The New England journal of medicine (11-06-2020)“…Despite timely implementation of testing for SARS-CoV-2 virus, a contact-tracing scheme, and social-distancing measures, infection has spread in Iceland…”
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Characterizing mutagenic effects of recombination through a sequence-level genetic map
Published in Science (American Association for the Advancement of Science) (25-01-2019)“…Genetic diversity arises from recombination and de novo mutation (DNM). Using a combination of microarray genotype and whole-genome sequence data on…”
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3
Rate of de novo mutations and the importance of father’s age to disease risk
Published in Nature (London) (23-08-2012)“…Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. Here…”
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4
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease
Published in Nature (London) (27-08-2020)“…Autoimmune thyroid disease is the most common autoimmune disease and is highly heritable 1 . Here, by using a genome-wide association study of 30,234 cases and…”
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5
Identification of a large set of rare complete human knockouts
Published in Nature genetics (01-05-2015)“…Patrick Sulem, Hannes Helgason and colleagues identify homozygous and compound heterozygous loss-of-function variants of minor allele frequency <2% in 7.7% of…”
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6
Fine-scale recombination rate differences between sexes, populations and individuals
Published in Nature (London) (28-10-2010)“…Meiotic recombinations contribute to genetic diversity by yielding new combinations of alleles. Recently, high-resolution recombination maps were inferred from…”
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7
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
Published in Nature communications (25-10-2018)“…Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary…”
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A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma
Published in PLoS genetics (08-03-2017)“…IL-33 is a tissue-derived cytokine that induces and amplifies eosinophilic inflammation and has emerged as a promising new drug target for asthma and allergic…”
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9
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
Published in Nature communications (03-05-2017)“…Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing…”
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10
Loss-of-function variants in ATM confer risk of gastric cancer
Published in Nature genetics (01-08-2015)“…Hannes Helgason, Kari Stefansson and colleagues report an association study of gastric cancer susceptibility based on whole-genome sequencing in the Icelandic…”
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11
Mutations in BRIP1 confer high risk of ovarian cancer
Published in Nature genetics (01-11-2011)“…Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries. Sixteen million sequence variants, identified through…”
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International Association of Dental Traumatology guidelines for the management of traumatic dental injuries: 2. Avulsion of permanent teeth
Published in Dental traumatology (01-04-2012)“…– Avulsion of permanent teeth is one of the most serious dental injuries, and a prompt and correct emergency management is very important for the prognosis…”
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13
Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
Published in Science (American Association for the Advancement of Science) (08-06-2007)“…The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction…”
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14
Ancient genomes from Iceland reveal the making of a human population
Published in Science (American Association for the Advancement of Science) (01-06-2018)“…Opportunities to directly study the founding of a human population and its subsequent evolutionary history are rare. Using genome sequence data from 27 ancient…”
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The Y-chromosome point mutation rate in humans
Published in Nature genetics (01-05-2015)“…Agnar Helgason and colleagues report the point mutation rate for the male-specific euchromatic sequence of the Y chromosome based on 753 Icelandic males. They…”
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International Association of Dental Traumatology guidelines for the management of traumatic dental injuries: 1. Fractures and luxations of permanent teeth
Published in Dental traumatology (01-02-2012)“…– Traumatic dental injuries (TDIs) of permanent teeth occur frequently in children and young adults. Crown fractures and luxations are the most commonly…”
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Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland
Published in Arteriosclerosis, thrombosis, and vascular biology (01-10-2021)“…Objective: Familial hypercholesterolemia (FH) is traditionally defined as a monogenic disease characterized by severely elevated LDL-C (low-density lipoprotein…”
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Regenerative Endodontic Procedures for Traumatized Teeth after Horizontal Root Fracture, Avulsion, and Perforating Root Resorption
Published in Journal of endodontics (01-10-2016)“…Abstract Introduction Traumatic injury to the teeth can cause horizontal root fractures and inflammatory root resorptions (external and internal)…”
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Treatment of Mature Permanent Teeth with Necrotic Pulps and Apical Periodontitis Using Regenerative Endodontic Procedures: A Case Series
Published in Journal of endodontics (2016)“…Abstract Introduction Regenerative endodontic procedures (REPs) are usually used to treat human immature permanent teeth with necrotic pulps and/or apical…”
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Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis
Published in Nature communications (06-06-2017)“…Diverticular disease is characterized by pouches (that is, diverticulae) due to weakness in the bowel wall, which can become infected and inflamed causing…”
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