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170 results on '"Gisli Masson"'

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1. Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease

2. Physical and cognitive impact following SARS-CoV-2 infection in a large population-based case-control study

3. Sequence variants affecting the genome-wide rate of germline microsatellite mutations

4. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

5. HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2

6. Genetic architecture of band neutrophil fraction in Iceland

7. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

8. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

9. Molecular benchmarks of a SARS-CoV-2 epidemic

10. Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

11. GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

12. A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

13. Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

14. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA

15. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

16. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

17. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

18. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

19. Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

20. Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

21. Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2

22. A genome-wide association study yields five novel thyroid cancer risk loci

23. Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

24. Epigenetic and genetic components of height regulation

25. Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

26. Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

27. A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.

28. Multi-nucleotide de novo Mutations in Humans.

29. Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.

30. Sequence variants affect the genome-wide rate of germline microsatellite mutations

31. Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies

32. Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

33. Differences between germline genomes of monozygotic twins

34. Symptoms, physical measures and cognitive tests after SARS-CoV-2 infection in a large population-based case-control study

35. Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

36. Large-scale comparison of immunoassay- and aptamer-based plasma proteomics through genetics and disease

37. Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset

38. The sequences of 150,119 genomes in the UK biobank

39. The sequences of 150,119 genomes in the UK Biobank

40. Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies

41. Molecular benchmarks of a SARS-CoV-2 epidemic

42. GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

43. Large-scale integration of the plasma proteome with genetics and disease

44. Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in

45. Humoral Immune Response to SARS-CoV-2 in Iceland

46. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

47. Spread of SARS-CoV-2 in the Icelandic Population

48. Early Spread of SARS-Cov-2 in the Icelandic Population

49. Multiple transmissions of de novo mutations in families

50. Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

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