23 results on '"Hayeems, Robin Z."'
Search Results
2. Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations
3. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
4. Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions
5. Assessing the Performance of the Clinician-reported Genetic Testing Utility InDEx (C-GUIDE): Further Evidence of Inter-rater Reliability
6. Trio RNA sequencing in a cohort of medically complex children
7. Understanding the Clinical Utility of Genome Sequencing in Critically Ill Newborns
8. A Model for the Integration of Genome Sequencing Into a Pediatric Cardiology Clinic
9. Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis
10. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
11. The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence
12. The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability
13. The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
14. Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets
15. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
16. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
17. Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story
18. Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis
19. A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis
20. Parent attitudes to newborn screening consent practices
21. In the loop: Primary care providers' role in newborn screening for cystic fibrosis
22. How does learning false positive results through newborn screening for cystic fibrosis influence cascade testing and family planning?
23. Making sense of diagnostic uncertainty after newborn screening for cystic fibrosis
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