Aslaug Jonasdottir

Ontology type: schema:Person     

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Publications in SciGraph latest 50 shown

  • 2018-12 A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease in NATURE COMMUNICATIONS
  • 2018-12 A rare missense variant in NR1H4 associates with lower cholesterol levels in COMMUNICATIONS BIOLOGY
  • 2018-12 MAP1B mutations cause intellectual disability and extensive white matter deficit in NATURE COMMUNICATIONS
  • 2018-11-05 Multiple transmissions of de novo mutations in families in NATURE GENETICS
  • 2018-11 Author Correction: The rate of meiotic gene conversion varies by sex and age in NATURE GENETICS
  • 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
  • 2017-11 Graphtyper enables population-scale genotyping using pangenome graphs in NATURE GENETICS
  • 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
  • 2017-08 Identification of sequence variants influencing immunoglobulin levels 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
  • 2017-04 Diversity in non-repetitive human sequences not found in the reference genome in NATURE GENETICS
  • 2016-11 The rate of meiotic gene conversion varies by sex and age in NATURE GENETICS
  • 2016-06 Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease 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
  • 2015-05 Identification of a large set of rare complete human knockouts in NATURE GENETICS
  • 2014-06 The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms in LEUKEMIA
  • 2014-05 Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31 in NATURE GENETICS
  • 2013-05 Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits in NATURE
  • 2012-08 Rate of de novo mutations and the importance of father’s age to disease risk 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 A germline variant in the TP53 polyadenylation signal confers cancer susceptibility in NATURE GENETICS
  • 2011-03-06 A rare variant in MYH6 is associated with high risk of sick sinus syndrome in NATURE GENETICS
  • 2010-10-28 Fine-scale recombination rate differences between sexes, populations and individuals in NATURE
  • 2010-08 A sequence variant on 17q21 is associated with age at onset and severity of asthma in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-08 Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm in NATURE GENETICS
  • 2010-02 Several common variants modulate heart rate, PR interval and QRS duration in NATURE GENETICS
  • 2009-12 Parental origin of sequence variants associated with complex diseases in NATURE
  • 2009-06 Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche in NATURE GENETICS
  • 2008-11 Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits in NATURE GENETICS
  • 2008-09-11 Large recurrent microdeletions associated with schizophrenia in NATURE
  • 2008-03 Genetics of gene expression and its effect on disease in NATURE
  • 2005-05 A genome wide linkage disequilibrium screen in Parkinson’s disease in JOURNAL OF NEUROLOGY
  • 2005-02 A common inversion under selection in Europeans in NATURE GENETICS
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