Olafur Th Magnusson


Ontology type: schema:Person     


Person Info

NAME

Olafur Th

SURNAME

Magnusson

Publications in SciGraph latest 50 shown

  • 2018-12 Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model in MOLECULAR NEURODEGENERATION
  • 2017-12 Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters in BMC MEDICAL GENETICS
  • 2017-12 COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA in BMC MEDICAL GENETICS
  • 2017-12 Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-09-21 Whole genome characterization of sequence diversity of 15,220 Icelanders in SCIENTIFIC DATA
  • 2017-09 Parental influence on human germline de novo mutations in 1,548 trios from Iceland in NATURE
  • 2017-08 Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis in NATURE GENETICS
  • 2017-05 Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis in NATURE GENETICS
  • 2017-02-22 Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation in NATURE COMMUNICATIONS
  • 2016-06 Physical and neurobehavioral determinants of reproductive onset and success in NATURE GENETICS
  • 2016-03 HLA class II sequence variants influence tuberculosis risk in populations of European ancestry in NATURE GENETICS
  • 2016-02-03 Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase in NATURE COMMUNICATIONS
  • 2015-12 New basal cell carcinoma susceptibility loci in NATURE COMMUNICATIONS
  • 2015-08 Loss-of-function variants in ATM confer risk of gastric cancer in NATURE GENETICS
  • 2015-05 Large-scale whole-genome sequencing of the Icelandic population in NATURE GENETICS
  • 2015-05 Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease in NATURE GENETICS
  • 2015-05 Identification of a large set of rare complete human knockouts in NATURE GENETICS
  • 2015-03-25 Sequence variants from whole genome sequencing a large group of Icelanders in SCIENTIFIC DATA
  • 2014-05 Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31 in NATURE GENETICS
  • 2014-03 Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes in NATURE GENETICS
  • 2013-12 A common variant at 8q24.21 is associated with renal cell cancer in NATURE COMMUNICATIONS
  • 2013-11 A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration in NATURE GENETICS
  • 2013-05 Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits in NATURE
  • 2012-12 A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer in NATURE GENETICS
  • 2012-08 Rate of de novo mutations and the importance of father’s age to disease risk in NATURE
  • 2012-08 A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline in NATURE
  • 2012-03 Discovery of common variants associated with low TSH levels and thyroid cancer risk in NATURE GENETICS
  • 2011-11 Mutations in BRIP1 confer high risk of ovarian cancer in NATURE GENETICS
  • 2011-11 Identification of low-frequency variants associated with gout and serum uric acid levels in NATURE GENETICS
  • 2011-11 A germline variant in the TP53 polyadenylation signal confers cancer susceptibility in NATURE GENETICS
  • 2011-05-06 Small Molecule Allosteric Modulators of Phosphodiesterase 4 in PHOSPHODIESTERASES AS DRUG TARGETS
  • 2011-03-06 A rare variant in MYH6 is associated with high risk of sick sinus syndrome in NATURE GENETICS
  • 2010-01 Design of phosphodiesterase 4D (PDE4D) allosteric modulators for enhancing cognition with improved safety in NATURE BIOTECHNOLOGY
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