Author
Centre Hospitalier Universitaire Sainte-JustineORCID 0000-0002-4289-049XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
2 papers
Recent·Most cited
Katherine W. Timothy, Rosemary Bauer, Kerry A. Larkin…·Andy Golden
This study describes the first natural history of Timothy syndrome, identifying common extra-cardiac features beyond cardiac issues.
Valentina Cipriani, Letizia Vestito, Emma Forton Magavern…·Damian P. Smedley
The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.