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F. Boyard · SciRah

Researcher profile · Semantic Scholar

F. Boyard

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F. Boyard — researcher profile on SciRah

h-index: 12
Works: 19
Citations: 449

Most-cited papers

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
Élise Boulanger-Scemama, S. El Shamieh, V. Démontant, C. Condroyer +10 more
2015Orphanet Journal of Rare Diseases96 citations Open access
Semantic Scholar
Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2).
Xiang-Rong Kong, R. Strauss, M. Michaelides, A. Cideciyan +139 more
2016Ophthalmology (Rochester, Minn.)68 citations Open access
Semantic Scholar
MERTK mutation update in inherited retinal diseases
I. Audo, S. Mohand-Said, Élise Boulanger-Scemama, X. Zanlonghi +8 more
2018Human Mutation58 citations
Semantic Scholar
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
S. El Shamieh, M. Neuillé, Angélique Terray, Elise Orhan +14 more
2014American Journal of Human Genetics56 citations Open access
Semantic Scholar
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
M. Nassisi, S. Mohand-Said, C. Dhaenens, F. Boyard +10 more
2018International Journal of Molecular Sciences32 citations Open access
Semantic Scholar
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
C. Zeitz, C. Michiels, M. Neuillé, C. Friedburg +53 more
2019Human Mutation31 citations Open access
Semantic Scholar
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Élise Boulanger-Scemama, S. Mohand-Said, S. El Shamieh, V. Démontant +9 more
2019International Journal of Molecular Sciences28 citations Open access
Semantic Scholar
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy
C. Méjécase, A. Hummel, S. Mohand-Said, Camille Andrieu +11 more
2018Clinical Genetics20 citations
Semantic Scholar
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
C. Méjécase, C. Laurent-Coriat, C. Mayer, O. Poch +12 more
2016PLoS ONE18 citations Open access
Semantic Scholar
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family
M. M. de Sousa Dias, C. Hamel, I. Meunier, Juliette Varin +4 more
2017Molecular Vision15 citations
Semantic Scholar
CHM mutation spectrum and disease: An update at the time of human therapeutic trials
C. Zeitz, M. Nassisi, C. Laurent-Coriat, Camille Andrieu +14 more
2021Human Mutation13 citations Open access
Semantic Scholar
ARL2BP mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant
I. Audo, S. El Shamieh, C. Méjécase, C. Michiels +10 more
2017Clinical Genetics12 citations
Semantic Scholar
CC2D2A mutations lead to variable phenotypes in a family with retinal dystrophy
C. Méjécase, S. Mohand-Said, C. Andrieux, A. Hummel +11 more
20171 citations
Semantic Scholar
MERTK mutations account for 2% of cases with inherited retinal dystrophy in a large French cohort
I. Audo, Elise Boulanger-Semama, S. Mohand-Said, V. Démontant +6 more
20161 citations
Semantic Scholar
Identification of mutations in CACNA1F in patients with incomplete CSNB applying next generation sequencing approaches
C. Zeitz, C. Michiels, M. Neuillé, C. Friedburg +12 more
20170 citations
Semantic Scholar
Mutation spectrum of a French cohort with autosomal recessive bestrophynopathy
I. Audo, S. Mohand-Said, Brigitte Ekpe, A. Antonio +4 more
20170 citations
Semantic Scholar
How multimodal retinal imaging can help with Next Generation Sequencing interpretation: the example of cone and cone-rod dystrophies
Elise Boulanger-Semama, S. El Shamieh, S. Mohand-Said, V. Démontant +7 more
20160 citations
Semantic Scholar
A comprehensive molecular analysis of patients with the diagnosis of choroideremia
C. Zeitz, B. Kloeckener-Gruissem, Marie-Elise Lancelot, A. Germain +5 more
20160 citations
Semantic Scholar
Blood gene expression measurements as an alternative strategy for growth hormone detection in horseracing. [Conference poster].
L. Bailly-Chouriberry, P. Martin, F. Boyard, Y. Glavieux +4 more
20120 citations
Semantic Scholar

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