31 results on '"Wain, Karen E"'
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2. Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists
3. Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population
4. Uncertainty in healthcare and health decision making: Five methodological and conceptual research recommendations from an interdisciplinary team
5. Measuring quality and value in genetic counseling: The current landscape and future directions
6. Genetic Counselor Communication and Counseling Skills for the Laboratory
7. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
8. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
9. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
10. Defining the Critical Components of Informed Consent for Genetic Testing: A Delphi Study
11. Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses
12. Application of a framework to guide genetic testing communication across clinical indications
13. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
14. Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project
15. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
16. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
17. Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg
18. Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
19. GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
20. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
21. Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties
22. Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background
23. The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants
24. ClinGen's GenomeConnect registry enables patient‐centered data sharing
25. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
26. The Utilization of Counseling Skills by the Laboratory Genetic Counselor
27. Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review
28. Looking Back and Moving Forward: An Historical Perspective from Laboratory Genetic Counselors
29. Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting
30. The Laboratory‐Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing
31. Living at Risk: The Sibling's Perspective of Early‐Onset Alzheimer's Disease
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