Search

Your search keyword '"Gardner, Eugene J."' showing total 154 results

Search Constraints

Start Over You searched for: Author "Gardner, Eugene J." Remove constraint Author: "Gardner, Eugene J."
154 results on '"Gardner, Eugene J."'

Search Results

1. Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health

2. Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

3. Genetic links between ovarian ageing, cancer risk and de novo mutation rates

4. Genetic drivers and cellular selection of female mosaic X chromosome loss

5. Understanding the genetic complexity of puberty timing across the allele frequency spectrum

6. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

7. Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum

8. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

9. Loss of transient receptor potential channel 5 causes obesity and postpartum depression

10. Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

13. Loss of GPR75 protects against non-alcoholic fatty liver disease and body fat accumulation

15. Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus

17. Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

19. Multi-platform discovery of haplotype-resolved structural variation in human genomes.

21. Population scale whole genome sequencing provides novel insights into cardiometabolic health

22. Population-Based Study of Rare Coding Variants in NR5A1/SF-1.

23. Penetrance of Pathogenic Genetic Variants Associated With Premature Ovarian Insufficiency

24. An integrated map of structural variation in 2,504 human genomes.

25. Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations

26. Protein-truncating variants inBSNare associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

27. Protein-truncating variants in BSNare associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

28. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

29. Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland

30. Contribution of retrotransposition to developmental disorders

31. Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

32. Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessive

33. Detection and characterization of male sex chromosome abnormalities in the UK Biobank study

34. Optimising diagnostic yield in highly penetrant genomic disease

36. Damaging missense variants in IGF1R implicate a role for IGF-1 resistance in the aetiology of type 2 diabetes

37. Shared and distinct genetic etiologies for different types of clonal hematopoiesis

38. The contribution of X-linked coding variation to severe developmental disorders

40. Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

41. A global reference for human genetic variation

42. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

43. Detecting cryptic clinically-relevant structural variation in exome sequencing data increases diagnostic yield for developmental disorders

45. The contribution of X-linked coding variation to severe developmental disorders

46. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

47. Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

48. Evidence for 28 genetic disorders discovered by combining healthcare and research data.

49. The effects of common structural variants on 3D chromatin structure.

50. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

Catalog

Books, media, physical & digital resources