Ratings
0
Nobody has rated this yet. Be the first!
Works
7
Characterizing genetic variants for clinical action
Exome sequencing: the expert view
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
Sirolimus therapy for a patient with segmental overgrowth due to a mosaic activating mutation in phosphatidylinositol-3-kinase
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Exploring concordance and discordance for return of incidental findings from clinical sequencing
