Fiona Boyard

Paris, France

Last Updated: 09/26/2026

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Found 11 publications

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

Journal: Human mutation

Published: July 16, 2020

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.

Journal: International journal of molecular sciences

Published: August 28, 2019

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.

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.

Journal: Human mutation

Published: January 09, 2019

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

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

Journal: Clinical genetics

Published: July 09, 2018

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

Journal: International journal of molecular sciences

Published: May 21, 2018

MERTK mutation update in inherited retinal diseases.

MERTK mutation update in inherited retinal diseases.

Journal: Human mutation

Published: November 10, 2017

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

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

Journal: Molecular vision

Published: October 31, 2016

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

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

Journal: PloS one

Published: September 21, 2016

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

Journal: Clinical genetics

Published: July 31, 2016

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

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

Journal: Orphanet journal of rare diseases

Published: October 15, 2014

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

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

Journal: American journal of human genetics

Published: December 20, 2013

Showing 1-11 of 11

Last Updated: 09/26/2026