Gisli Masson

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Publications in SciGraph latest 50 shown

  • 2019-02 A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis in NATURE GENETICS
  • 2018-12 A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease in NATURE COMMUNICATIONS
  • 2018-12 A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin in COMMUNICATIONS BIOLOGY
  • 2018-12 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits 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
  • 2018-09 Relatedness disequilibrium regression estimates heritability without environmental bias in NATURE GENETICS
  • 2018-02 Reconstructing an African haploid genome from the 18th century in NATURE GENETICS
  • 2017-12 Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations in NPJ GENOMIC MEDICINE
  • 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
  • 2017-06-06 Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis in NATURE COMMUNICATIONS
  • 2017-05-03 Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 in NATURE COMMUNICATIONS
  • 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
  • 2017-02-14 A genome-wide association study yields five novel thyroid cancer risk loci in NATURE COMMUNICATIONS
  • 2016-11-16 Epigenetic and genetic components of height regulation in NATURE COMMUNICATIONS
  • 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
  • 2016-06 Physical and neurobehavioral determinants of reproductive onset and success in NATURE GENETICS
  • 2016-05 A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences in MOLECULAR PSYCHIATRY
  • 2016-03 HLA class II sequence variants influence tuberculosis risk in populations of European ancestry in NATURE GENETICS
  • 2016-03 Weighting sequence variants based on their annotation increases power of whole-genome association studies 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 Common and rare variants associated with kidney stones and biochemical traits in NATURE COMMUNICATIONS
  • 2015-12 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma 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 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
  • 2014-10 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche in NATURE
  • 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
  • 2014-04 Loss-of-function mutations in SLC30A8 protect against type 2 diabetes 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
  • 2014-01 Common and low-frequency variants associated with genome-wide recombination rate 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
  • 2012-12 A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer in NATURE GENETICS
  • 2012-10 A direct characterization of human mutation based on microsatellites in NATURE GENETICS
  • 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 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
  • Affiliations

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