Author
University of TorontoORCID 0000-0003-1152-1568Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
In Young Hwang, Jasmine Soobin Yeo, Maria Camila Almeida…·Kenneth S. Kosik
This study investigates how 7q11.23 copy number variations disrupt brain organoid development, showing structural and functional abnormalities in neural circuits and spine morphology.
Jacob Ellegood, Antoine Beauchamp, Yohan Yee…·Jill L. Silverman
The paper identifies molecular pathways associated with neurodevelopmental disorder subgroups using neuroimaging data from mice and humans.
D. Liu, Carolyn Β. Mervis, Mark David Levin…·Beth A. Kozel
The paper develops polygenic risk scores for surgical supravalvar aortic stenosis using variants from Williams syndrome patients, achieving high AUC and low misclassification rates.
Alejandro Tobon, Reinald Shyti, Carlo Emanuele Villa…·Giuseppe Testa
This study shows that GTF2I dosage affects neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders using patient-derived organoids and mouse models.
D. Liu, Charles John Billington, N. Raja…·Beth A. Kozel
The paper identifies novel non-synonymous variants associated with extreme vascular outcomes in Williams-Beuren syndrome through whole-genome sequencing and pathway analysis.