F. Thuriot

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.

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene

G. Bejerano, A. Wenger, D. Chitayat, 2016, Journal of Medical Genetics.

Molecular diagnosis of muscular diseases in outpatient clinics

P. Jacques, S. Lévesque, F. Thuriot, 2020, Neurology: Genetics.

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots

S. Lévesque, F. Thuriot, Elaine Gravel, 2021, Journal of clinical medicine.

A Canadian perspective

P. Jacques, S. Lévesque, F. Thuriot, 2020 .

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

R. Holt, W. Sossin, F. Alkuraya, 2020, Human molecular genetics.

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.

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

S. Lévesque, F. Thuriot, P. Waters, 2016, Molecular genetics and metabolism reports.