Author
Hospital for Sick ChildrenORCID 0000-0003-1987-1095Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Sara A. Lewis, Maya Chopra, Julie S. Cohen…·Michael C. Kruer
The paper evaluates the clinical impact of genetic findings in cerebral palsy, finding 8% of cases have actionable genetic diagnoses with moderate-high clinical utility.
Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan…·Stephen W. Scherer
The paper investigates the association between gene copy number variation and mental health traits in children, finding links to ADHD, OCD, and cognitive biomarkers.
Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan…·Evdokia A. Anagnostou
This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.
Zeynep Baskurt, Scott Mastromatteo, Jiafen Gong…·Lisa J. Strug
VIKNGS integrates NGS data for genetic association analysis, providing tools to adjust for differential genotype uncertainty and improve statistical power.