Fanny Thuriot

Fanny Thuriot

Université de Sherbrooke - Sherbrooke / Canada
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 5323312
University of Sherbrooke
person_outline Fanny Thuriot's MOST POPULAR ARTICLES
1-) Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing dataF Thuriot, C Buote, E Gravel, S Chénier, V Désilets, B Maranda, PJ Waters, ...Genetics in Medicine 20 (9), 942-949, 2018242018
2-) Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c. 266A> G p.(Tyr89Cys) variant in the ERF geneM Balasubramanian, H Lord, S Levesque, H Guturu, F Thuriot, G Sillon, ...Journal of medical genetics 54 (3), 157-165, 2017232017
3-) Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspectiveF Thuriot, E Gravel, C Buote, M Doyon, E Lapointe, L Marcoux, S Larue, ...Neurology Genetics 6 (2), 2020202020
4-) Methylmalonyl-coa epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the mcee genePJ Waters, F Thuriot, JTR Clarke, S Gravel, D Watkins, DS Rosenblatt, ...Molecular genetics and metabolism reports 9, 19-24, 2016202016
5-) Analyse du séquençage de l’exome basée sur le phénotype pour le diagnostic moléculaire des syndromes polymalformatifsF Thuriot2017