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Nathalie Delphin

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
2007 · Isabelle Perrault, Nathalie Delphin, et al. · Human Mutation · 239
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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
2012 · Isabelle Perrault, Sophie Saunier, et al. · The American Journal of Human Genetics · 230
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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
2012 · Isabelle Perrault, Sylvain Hanein, et al. · Nature Genetics · 150
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling
2006 · Valérie Pelletier, Marguerite Jambou, et al. · Human Mutation · 130
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TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
2009 · Sylvain Hanein, Isabelle Perrault, et al. · The American Journal of Human Genetics · 105
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Phylogenetic Analyses Indicate an Atypical Nurse-to-Patient Transmission of Human Immunodeficiency Virus Type 1
2000 · Christophe P. Goujon, Véronique M. Schneider, et al. · Journal of Virology · 68
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
2009 · Giuseppe Querques, Jennyfer Zerbib, et al. · PubMed Central · 63
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
2011 · Nathalie Delphin, Sylvain Hanein, et al. · European Journal of Human Genetics · 41
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane
2013 · Sylvain Hanein, Mathilde Garcia, et al. · Biochimica et Biophysica Acta (BBA) - General Subjects · 33
Spectrum ofSPATA7mutations in Leber congenital amaurosis and delineation of the associated phenotype
2010 · Isabelle Perrault, Sylvain Hanein, et al. · Human Mutation · 31
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Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II
2007 · Sylvie Gerber, Sylvain Hanein, et al. · Human Mutation · 30
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The Spectrum of Subclinical Best Vitelliform Macular Dystrophy in Subjects with Mutations in BEST1 Gene
2011 · Giuseppe Querques, Jennyfer Zerbib, et al. · Investigative Ophthalmology & Visual Science · 29
Treatment interruption after one year of triple nucleoside analogue therapy for primary HIV infection
2001 · Pierre-Marie Girard, Véronique Schneider, et al. · AIDS · 23
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype
2013 · Isabelle Perrault, Alejandro Estrada-Cuzcano, et al. · PLoS ONE · 21
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Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example
2007 · Sylvain Hanein, Isabelle Perrault, et al. · European Journal of Human Genetics · 13
Peptide insertions in reverse transcriptase pol gene of human immunodeficiency virus type 1 as a rare cause of persistent antiretroviral therapeutic failure
2004 · Véronique Schneider, Jérôme Legoff, et al. · Clinical Microbiology and Infection · 9
A new insertion in the HIV-1 reverse transcriptase gene inducing major resistance to non-nucleoside reverse transcriptase inhibitors
2005 · Corinne Amiel, Nathalie Desire, et al. · AIDS · 1
Targeted NGS : an effective approach for molecular diagnosis of hereditary vitreoretinopathies
2017 · C. Burin des Roziers, P.R. Rothschild, et al. · Acta Ophthalmologica
Ciliome resequencing: A lifeline for molecular diagnosis in LCA
2015 · I Perrault, S Hanein, et al. · Cilia
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Comprehensive molecular diagnosis of 160 Leber congenital amaurosis or Early Onset Severe Retinal Dystrophy by targeted next generation sequencing.
2015 · Isabelle Perrault, Sylvain Hanein, et al. · Investigative Ophthalmology & Visual Science
Leber congenital amaurosis with early-onset severe macular atrophy and optic atrophy is likely pathognomonic of NMNAT1 mutations
2015 · Olivia Xerri, Isabelle Perrault, et al. · Investigative Ophthalmology & Visual Science
Pilot Study of Patients Affected With Leber Congenital Amaurosis (LCA) Clinically Selected With Regard to the Previously Established Genotype–Phenotype Correlations
2006 · Sylvain Hanein, Isabelle Perrault, et al. · Investigative Ophthalmology & Visual Science
Le génotypage de résistance du VIH
2004 · Nathalie Delphin · Revue Française des Laboratoires
Intérêt du séquençage dans le diagnostic virologique : application au VIH et au VHC
1999 · Véronique Schneider, Christophe Goujon, et al. · Revue Française des Laboratoires
Works count: 25
Citation count: 1,216
H-index: 14
I10-index: 15
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