Caroline Buote

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes

Hugo Larochelle, Pierre-Étienne Jacques, H. Larochelle, 2014, BMC Medical Genomics.

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data

P. Jacques, S. Lévesque, F. Thuriot, 2018, Genetics in Medicine.