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List of works by Fiona Boyard

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

scientific article

MERTK mutations update in inherited retinal diseases.

scientific article published on 16 April 2018

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

scientific article

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

scientific article published on 18 March 2017

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

scientific article published on 28 March 2019

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

scientific article published on 04 November 2018

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

scientific article

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