263 results on '"Davila, Sonia"'
Search Results
2. Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
3. Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study
4. Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes
5. The Singapore National Precision Medicine Strategy
6. A five-safes approach to a secure and scalable genomics data repository
7. Extensive Ethnic Variation and Linkage Disequilibrium at the FCGR2/3 Locus: Different Genetic Associations Revealed in Kawasaki Disease.
8. Analysis of clinically relevant variants from ancestrally diverse Asian genomes
9. Evaluation of family health history collection methods impact on data and risk assessment outcomes
10. Data Mining of Electronic Health Records to Identify Undiagnosed Patients with Rare Genetic Diseases
11. Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population
12. Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era
13. Family history assessment significantly enhances delivery of precision medicine in the genomics era
14. Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study
15. Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
16. Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility.
17. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
18. Matrix metalloproteinase haplotypes associated with coronary artery aneurysm formation in patients with Kawasaki disease
19. A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.
20. Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis.
21. Harnessing technology and molecular analysis to understand the development of cardiovascular diseases in Asia: a prospective cohort study (SingHEART)
22. Digital phenotyping by consumer wearables identifies sleep-associated markers of cardiovascular disease risk and biological aging
23. Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations
24. Reciprocal Domain Evolution within a Transactivator in a Restricted Sequence Space
25. Genomic landscape of drug binding and pharmacogenetic variation across diverse populations using SNPdrug3D
26. Implementation of genomics in medical practice to deliver precision medicine for an Asian population
27. Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
28. Changes in H3K27ac following lipopolysaccharide stimulation of nasopharyngeal epithelial cells
29. RAPTOR: A Five-Safes approach to a secure, cloud native and serverless genomics data repository
30. High-Resolution Digital Phenotypes From Consumer Wearables and Their Applications in Machine Learning of Cardiometabolic Risk Markers: Cohort Study
31. Phagosomal RNA sensing through TLR8 controls susceptibility to tuberculosis
32. Angiomotin mutation causes glomerulopathy and renal cysts by upregulating hepatocyte nuclear factor transcriptional activity
33. Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders
34. Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A
35. Association between Single-Nucleotide Polymorphisms in Mal/TIRAP and Interleukin-10 Genes and Susceptibility to Invasive Haemophilus influenzae Serotype b Infection in Immunized Children
36. High-Resolution Digital Phenotypes from Consumer Wearables Enhance Prediction of Cardiometabolic Risk Markers
37. An Immunochip-based interaction study of contrasting interaction effects with smoking in ACPA-positive versus ACPA-negative rheumatoid arthritis
38. Additional file 1 of Family history assessment significantly enhances delivery of precision medicine in the genomics era
39. cnvCapSeq: detecting copy number variation in long-range targeted resequencing data
40. Impaired Development of Neural-Crest Cell-Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency
41. HPV Could be a Potential Factor of Survival in Laryngeal Cancer: a Preliminary Study in Mexican Patients
42. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease
43. Disruption of vascular homeostasis in patients with Kawasaki disease: Involvement of vascular endothelial growth factor and angiopoietins
44. Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease
45. Family History Assessment Significantly Enhances Delivery of Precision Medicine in the Genomics Era
46. Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore
47. Virus por todos lados
48. MOESM1 of Harnessing technology and molecular analysis to understand the development of cardiovascular diseases in Asia: a prospective cohort study (SingHEART)
49. MOVERS
50. Additional file 7: of Changes in H3K27ac following lipopolysaccharide stimulation of nasopharyngeal epithelial cells
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