D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 53 Citations 9,163 179 World Ranking 2979 National Ranking 149

Overview

What is she best known for?

The fields of study Josseline Kaplan is best known for:

  • Gene
  • Guanylate cyclase 2C
  • GUCY2D

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.

Her most cited work include:

  • Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy (1260 citations)
  • Defective myosin VIIA gene responsible for Usher syndrome type IB (999 citations)
  • Mutation spectrum and splicing variants in the OPA1 gene (321 citations)

What are the main themes of her work throughout her whole career to date

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.

Josseline Kaplan most often published in these fields:

  • Genetics (92.00%)
  • Gene (87.00%)
  • Mutation (57.00%)

What were the highlights of her more recent work (between 2017-2021)?

  • Genetics (100.00%)
  • Gene (100.00%)
  • Mutation (60.00%)

In recent works Josseline Kaplan was focusing on the following fields of study:

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.

Between 2017 and 2021, her most popular works were:

  • Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy (67 citations)
  • Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults (23 citations)
  • Dopachrome tautomerase variants in patients with oculocutaneous albinism (23 citations)

In her most recent research, the most cited works focused on:

  • Gene
  • Leber's hereditary optic neuropathy
  • Genetics

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.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

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)

1481 Citations

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)

453 Citations

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)

422 Citations

Mutation spectrum and splicing variants in the OPA1 gene.

Cécile Delettre;Jean-Michel Griffoin;Josseline Kaplan;Hélène Dollfus.
Human Genetics (2001)

412 Citations

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)

294 Citations

Leber Congenital Amaurosis

Isabelle Perrault;Jean-Michel Rozet;Sylvie Gerber;Imad Ghazi.
Molecular Genetics and Metabolism (1999)

277 Citations

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)

259 Citations

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Isabelle Perrault;Sylvain Hanein;Sylvie Gerber;Fabienne Barbet.
American Journal of Human Genetics (2004)

244 Citations

Clinical and genetic heterogeneity in retinitis pigmentosa

Josseline Kaplan;Dominique Bonneau;Jean Frézal;Arnold Munnich.
Human Genetics (1990)

224 Citations

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)

223 Citations

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