308 results on '"Hayeems, Robin Z."'
Search Results
2. Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping Review
3. Pharmacogenetic profiling via genome sequencing in children with medical complexity
4. Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery
5. Pre-phototherapy total serum bilirubin levels in extremely preterm infants
6. Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity
7. Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations
8. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
9. Assessing the Performance of the Clinician-reported Genetic Testing Utility InDEx (C-GUIDE): Further Evidence of Inter-rater Reliability
10. Understanding the Clinical Utility of Genome Sequencing in Critically Ill Newborns
11. Gene therapy: perspectives from young adults with Leber’s congenital amaurosis
12. Genetics providers’ perspectives on the use of digital tools in clinical practice
13. Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis
14. Cascade health service use in family members following genetic testing in children: a scoping literature review
15. Public Opinions and Attitudes toward Non-invasive Prenatal Testing on Reddit: Content and Sentiment Analysis
16. OP168 Costs And Effectiveness Of Whole Exome Sequencing (WES) In Patients With Unsolved Rare Disease Through The Diagnostic Pathway
17. Measuring clinical utility in the context of genetic testing: a scoping review
18. Correction: Gene therapy: perspectives from young adults with Leber’s congenital amaurosis
19. What is in a Name? Parent, Professional and Policy-Maker Conceptions of Consent-Related Language in the Context of Newborn Screening
20. The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
21. Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets
22. Public Opinions and Attitudes toward Noninvasive Prenatal Testing on Reddit: Content and Sentiment Analysis.
23. Parental Preferences for Expanded Newborn Screening: What Are the Limits?
24. Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions
25. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
26. Translating Precision Health for Pediatrics: A Scoping Review
27. Trio RNA sequencing in a cohort of medically complex children
28. Decision impact studies, evidence of clinical utility for genomic assays in cancer: A scoping review
29. Informally Regulated Innovation Systems: Challenges for Responsible Innovation in Diagnostics
30. Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis
31. How digital tools can advance quality and equity in genomic medicine
32. Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray
33. Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
34. Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation
35. Pharmacogenetic profiling via genome sequencing in children with medical complexity
36. Rapid Genetic Testing in Pediatric and Neonatal Critical Care: A Scoping Review of Emerging Ethical Issues
37. A Model for the Integration of Genome Sequencing Into a Pediatric Cardiology Clinic
38. Puberty and Schizophrenia Onset
39. Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
40. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
41. The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence
42. The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability
43. Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study
44. The Market in Noninvasive Prenatal Tests and the Message to Consumers: Exploring Responsibility
45. Maximizing Benefits and Minimizing Harms: Diagnostic Uncertainty Arising From Newborn Screening
46. Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
47. Genome sequencing among children with medical complexity: What constitutes value from parents’ perspective?
48. Gene therapy: perspectives from young adults with Leber’s congenital amaurosis
49. Does a Duty of Disclosure Foster Special Treatment of Genetic Research Participants?
50. Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges
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