Area of research
Genetics · Cancer Research
Research interest
Research focused on Exome sequencing and Genetic testing, with related work in Whole genome sequencing, Exome, Randomized controlled trial. Notable publications include 'Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease', 'Best practices for the interpretation and reporting of clinical whole genome sequencing', and 'Are physicians prepared for whole genome sequencing? a qualitative analysis'.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Best practices for the interpretation and reporting of clinical whole genome sequencing
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease
Disclosing genetic risk for Alzheimer's dementia to individuals with mild cognitive impairment
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study
Are physicians prepared for whole genome sequencing? a qualitative analysis
Experiences with obtaining informed consent for genomic sequencing