Fanny Thuriot

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

Meena Balasubramanian, Helen Lord, Sébastien Levesque et al. · Journal of Medical Genetics · 2016 · 26 citations

Life Sciences, Genetics, Pediatrics +16

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

Congyao Zha, Carole A. Farah, Richard Holt et al. · Human Molecular Genetics · 2020 · 22 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

Paula J. Waters, Fanny Thuriot, Joe T.R. Clarke et al. · Molecular Genetics and Metabolism Reports · 2016 · 18 citations · Full text

Life Sciences, Biochemistry, Molecular Medicine +16

Molecular diagnosis of muscular diseases in outpatient clinics

Fanny Thuriot, Elaine Gravel, Caroline Buote et al. · Neurology Genetics · 2020 · 17 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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

Fanny Thuriot, Caroline Buote, Elaine Gravel et al. · Genetics in Medicine · 2018 · 16 citations · Full text

Life Sciences, Bioinformatics, Genetics +17