Fanny.Thuriot

1. Congyao Zha, Carole A Farah, Richard J Holt, Fabiola Ceroni, Lama Al-Abdi, Fanny Thuriot, Arif O Khan, Rana Helaby, Sébastien Lévesque, Fowzan S Alkuraya, Alison Kraus, Nicola K Ragge, Wayne S Sossin (2020). Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddaa198
2. Thuriot F, Gravel E, Buote C, Doyon M, Lapointe E, Marcoux L, Larue S, Nadeau A, Chénier S, Water P J, Jacques PE, Gravel S, Lévesque S. (2020). Molecular Diagnosis of Muscular Diseases in Outpatient Clinics: a Canadian Perspective. Neurology Genetics. https://doi.org/10.1212/NXG.0000000000000408
3. Fanny Thuriot, Caroline Buote, Elaine Gravel, Sébastien Chénier, Valérie Désilets, Bruno Maranda, Paula J. Waters, Pierre-Étienne Jacques, Sébastien Lévesque. (2018). Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data. Genetics in Medicine. 20: 942-949. http://dx.doi.org/10.1038/gim.2017.239
4. M Balasubramanian, H Lord, S Levesque, H Guturu, F Thuriot, G Sillon, A M Wenger, D L Sureka, T Lester, D S Johnson, J Bowen, A R Calhoun, D H Viskochil, DDD Study, G Bejerano, J A Bernstein, D Chitayat. (2016). Chitayat Syndrome: hyperphalangism, characteristic facies, hallux valgus, and bronchomalacia results from a recurrent c.266A>G (p.Tyr89Cys) variant in the ERF gene. Journal of Medical Genetics. 54(3): 157-165. http://dx.doi.org/10.1136/jmedgenet-2016-104143
5. Paula J. Waters, Fanny Thuriot, Joe T.R. Clarke, Serge Gravel, David Watkins, David S. Rosenblatt, Sébastien Lévesque. (2016). Methylmalonyl-coA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene. Molecular Genetics and Metabolism Reports. 9: 19-24.

http://dx.doi.org/http://dx.doi.org/10.1016/j.ymgmr.2016.09.001