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Your search keyword '"Heiko Runz"' showing total 121 results

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121 results on '"Heiko Runz"'

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1. Systematic discovery of gene-environment interactions underlying the human plasma proteome in UK Biobank

2. TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer’s disease

3. Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression

4. PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs

5. Genome-wide study of longitudinal brain imaging measures of multiple sclerosis progression across six clinical trials

6. A FinnGen pilot clinical recall study for Alzheimer’s disease

7. Rare genetic variants impact muscle strength

8. Collective genomic segments with differential pleiotropic patterns between cognitive dimensions and psychopathology

9. Genetic map of regional sulcal morphology in the human brain from UK biobank data

10. Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake

11. Recontacting biobank participants to collect lifestyle, behavioural and cognitive information via online questionnaires: lessons from a pilot study within FinnGen

12. Sleep apnoea is a risk factor for severe COVID-19

13. Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

14. Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome.

15. Phenome-wide association studies across large population cohorts support drug target validation

16. PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

17. Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease

18. Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

19. Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis

20. Characterization of drug‐induced transcriptional modules: towards drug repositioning and functional understanding

21. Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage[S]

22. Author Correction: Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease

23. Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

24. Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

25. A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis.

26. RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function.

27. Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis.

28. Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

29. Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study

30. Blood protein levels predict leading incident diseases and mortality in UK Biobank

31. New insights into the genetic etiology of Alzheimer's disease and related dementias

32. Recontacting biobank participants to collect lifestyle, behavioural and cognitive information via online questionnaires : lessons from a pilot study within FinnGen

33. Unbiased identification of unknown cellular and environmental factors that mediate eQTLs using principal interaction component analysis

34. FinnGen: Unique genetic insights from combining isolated population and national health register data

35. Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases

36. Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

37. Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake

38. Genetic associations of protein-coding variants in human disease

39. Genetic map of regional sulcal morphology in the human brain

40. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

41. Dissecting Biological Pathways of Psychopathology using Cognitive Genomics

42. Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

43. New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

44. Whole exome sequencing in the UK Biobank reveals risk geneSLC2A1and biological insights for major depressive disorder

45. Brain expression quantitative trait locus and network analysis reveals downstream effects and putative drivers for brain-related diseases

46. Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways

47. The Parkinson’s disease-associated gene ITPKB protects against α-synuclein aggregation by regulating ER-to-mitochondria calcium release

48. Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

49. Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

50. A catalog of associations between rare coding variants and COVID-19 outcomes

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