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Audrey Sénéćhal

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome
2012 · Alejandro Estrada-Cuzcano, Robert K. Koenekoop, et al. · Archives of Ophthalmology · 128
Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
2013 · Gaël Manes, Isabelle Meunier, et al. · The American Journal of Human Genetics · 82
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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
2019 · Camille Piro-Mégy, Emmanuelle Sarzi, et al. · Journal of Clinical Investigation · 78
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Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis
2011 · Isabelle Meunier, Audrey Sénéchal, et al. · Ophthalmology · 77
X-Linked miRNAs Associated with Gender Differences in Rheumatoid Arthritis
2016 · Olfa Khalifa, Yves-Marie Pers, et al. · International Journal of Molecular Sciences · 71
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Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
2013 · Beatrice Bocquet, Annie Lacroux, et al. · Ophthalmic Epidemiology · 65
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
2013 · Béatrice Bocquet, Nour Al Dain Marzouka, et al. · PubMed Central · 52
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Screening Genes of the Retinoid Metabolism: Novel LRAT Mutation in Leber Congenital Amaurosis
2006 · Audrey Sénéchal, Ghyslaine Humbert, et al. · American Journal of Ophthalmology · 44
Novel KCNV2 Mutations in Cone Dystrophy with Supernormal Rod Electroretinogram
2008 · Safouane Ben Salah, Satomi Kamei, et al. · American Journal of Ophthalmology · 40
High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features
2014 · Gaël Manes, Tremeur Guillaumie, et al. · American Journal of Ophthalmology · 39
Homozygous Deletion Related to Alu Repeats in RLBP1 Causes Retinitis Punctata Albescens
2006 · Ghyslaine Humbert, Ce´cile Delettre, et al. · Investigative Ophthalmology & Visual Science · 39
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype
2017 · Gaël Manes, Willy Joly, et al. · Human Molecular Genetics · 36
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A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit
2014 · Gaël Manes, Pallavi Cheguru, et al. · PLoS ONE · 35
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Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
2017 · Gaël Manes, Sonia Mamouni, et al. · PubMed Central · 28
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Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families
2011 · Maxime Hebrard, Gaël Manes, et al. · European Journal of Human Genetics · 26
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Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
2020 · Guillaume Olivier, Marta Corton, et al. · Journal of Medical Genetics · 23
TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin
2017 · Olfa Khalifa, Nathalie Balandraud, et al. · Journal of Immunology Research · 21
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Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
2011 · Omar Abidi, Sara Knari, et al. · PubMed Central · 19
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A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
2011 · Gaël Manes, Maxime Hebrard, et al. · BMC Medical Genetics · 8
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Screening for a Canine Model of Choroideremia Exclusively Identifies Nonpathogenic CHM Variants
2010 · Lorenne Robert, Audrey Sénéchal, et al. · Ophthalmic Research · 8
Screening genes of the visual cycleRGR,RBP1andRBP3identifies rare sequence variations
2010 · Mohamed Ksantini, Audrey Sénéchal, et al. · Ophthalmic Genetics · 5
02.10 X-linked mirnas associated with gender differences in rheumatoid arthritis
2017 · Olfa Khalifa, Yves-Marie Pers, et al. · Annals of the Rheumatic Diseases · 2
RRH, Encoding the RPE-Expressed Opsin-Like Peropsin, Is Not Mutated in Retinitis Pigmentosa and Allied Diseases
2007 · Mohamed Ksantini, Audrey Sénéchal, et al. · Ophthalmic Genetics · 2
Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa
2018 · Gaël Manès, Xavier Zanlonghi, et al. · Investigative Ophthalmology & Visual Science
New loci for autosomal recessive retinitis pigmentosa and macular degeneration
2004 · C. Maubaret, Audrey Sénéćhal, et al. · Investigative Ophthalmology & Visual Science
Works count: 29
Citation count: 928
H-index: 18
I10-index: 18
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