Her Stargardt disease research extends to the thematically linked field of Genetics. She connects Gene with Retinal degeneration in her study. In her research, she undertakes multidisciplinary study on Retinal degeneration and Retinitis pigmentosa. She integrates many fields, such as Retinitis pigmentosa and Usher syndrome, in her works. She incorporates Mutation and Frameshift mutation in her studies. While working in this field, Josseline Kaplan studies both Frameshift mutation and Missense mutation. She combines Missense mutation and Mutation in her studies. Josseline Kaplan performs multidisciplinary study on Phenotype and Allele in her works. Josseline Kaplan merges many fields, such as Allele and Phenotype, in her writings.
Josseline Kaplan conducts interdisciplinary study in the fields of Genetics and Neuroscience through her research. She performs multidisciplinary study in the fields of Neuroscience and Genetics via her papers. She undertakes multidisciplinary investigations into Gene and Molecular biology in her work. She integrates Mutation with Missense mutation in her research. Josseline Kaplan merges Phenotype with Genetic heterogeneity in her study. Her research on Ophthalmology often connects related topics like Retinal. Her Retinal study often links to related topics such as Ophthalmology. She merges Exon with Mutation in her study. She integrates Exome sequencing with Disease gene identification in her research.
Loss function, Genetic heterogeneity and Penetrance are the subject areas of her Phenotype study. Josseline Kaplan incorporates Penetrance and Phenotype in her studies. Josseline Kaplan links relevant scientific disciplines such as Pathological and Atrophy in the realm of Pathology. Her Pathological study frequently draws connections between related disciplines such as Pathology. Her Genetics study frequently links to adjacent areas such as Hypopigmentation. She carries out multidisciplinary research, doing studies in Gene and Exome sequencing. Josseline Kaplan undertakes interdisciplinary study in the fields of Optic neuropathy and Optic nerve through her research. As part of her studies on Optic nerve, Josseline Kaplan often connects relevant subjects like Neuroscience. Her research combines Optic neuropathy and Neuroscience.
Her work on Hypopigmentation expands to the thematically related Genetics. Many of her studies involve connections with topics such as Genetics and Hypopigmentation. Josseline Kaplan performs multidisciplinary study on Mutation and Exome sequencing in her works. She integrates many fields, such as Exome sequencing and Mutation, in her works. She undertakes multidisciplinary studies into Gene and Compound heterozygosity in her work. Josseline Kaplan integrates several fields in her works, including Compound heterozygosity and Gene. As part of her studies on Optic neuropathy, Josseline Kaplan frequently links adjacent subjects like Neuroscience. Many of her studies involve connections with topics such as Optic nerve and Neuroscience. She connects Optic nerve with Optic neuropathy in her study.
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Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
C Delettre;G Lenaers;J-M Griffoin;N Gigarel.
Nature Genetics (2000)
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Sylvain Hanein;Isabelle Perrault;Sylvie Gerber;Gaëlle Tanguy.
Human Mutation (2004)
The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration
Eric H. Souied;Pascale Benlian;Philippe Amouyel;Josue Feingold.
American Journal of Ophthalmology (1998)
Mutation spectrum and splicing variants in the OPA1 gene.
Cécile Delettre;Jean-Michel Griffoin;Josseline Kaplan;Hélène Dollfus.
Human Genetics (2001)
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Isabelle Perrault;Nathalie Delphin;Sylvain Hanein;Sylvie Gerber.
Human Mutation (2007)
Leber Congenital Amaurosis
Isabelle Perrault;Jean-Michel Rozet;Sylvie Gerber;Imad Ghazi.
Molecular Genetics and Metabolism (1999)
Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy
Rosemary E. Kelsell;Kevin Gregory-Evans;Annette M. Payne;Isabelle Perrault.
Human Molecular Genetics (1998)
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Isabelle Perrault;Sylvain Hanein;Sylvie Gerber;Fabienne Barbet.
American Journal of Human Genetics (2004)
Clinical and genetic heterogeneity in retinitis pigmentosa
Josseline Kaplan;Dominique Bonneau;Jean Frézal;Arnold Munnich.
Human Genetics (1990)
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
Jean-Michel Rozet;Sylvie Gerber;Eric Souied;Isabelle Perrault.
European Journal of Human Genetics (1998)
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