F. Boyard

发表

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

J. Sahel, I. Audo, S. Mohand-Saïd, 2019, International journal of molecular sciences.

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

J. Sahel, I. Audo, S. Mohand-Saïd, 2018, Clinical genetics.

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

J. Sahel, C. Jubin, T. de Ravel, 2019, Human mutation.

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

J. Sahel, A. Roux, I. Audo, 2021, Human mutation.

MERTK mutation update in inherited retinal diseases

J. Sahel, S. Mohand-Said, I. Audo, 2018, Human mutation.

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

J. Sahel, E. Souied, I. Audo, 2015, Orphanet Journal of Rare Diseases.

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

J. Sahel, I. Audo, S. Mohand-Saïd, 2018, International journal of molecular sciences.

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

J. Sahel, I. Audo, S. Mohand-Saïd, 2017, Clinical genetics.

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

J. Sahel, O. Poch, C. Mayer, 2016, PloS one.

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

J. Sahel, C. Hamel, I. Meunier, 2017, Molecular vision.

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

T. Léveillard, J. Sahel, I. Audo, 2014, American journal of human genetics.