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Josseline Kaplan

Josseline Kaplan

D-Index & Metrics

Genetics

D-Index
62
Citations
14788
World Ranking
2967
National Ranking
144

Overview

Josseline Kaplan is affiliated with Université Paris Cité in France and has a research focus spanning biochemistry, genetics, and molecular biology, with additional work in medicine. Their scientific investigations delve into several subfields, particularly molecular biology, genetics, ophthalmology, cell biology, and nutrition and dietetics.

The primary subjects covered in Kaplan's research include mitochondrial function and pathology, retinal development and disorders, retinal diseases and treatments, melanin and skin pigmentation, biochemical analysis and sensing techniques, RNA modifications and cancer, as well as genetic and kidney cyst diseases.

Kaplan's recent published work features studies across various high-impact journals. These papers include:

  • Impaired complex I repair causes recessive Leber's hereditary optic neuropathy, 2021, Journal of Clinical Investigation
  • Dopachrome tautomerase variants in patients with oculocutaneous albinism, 2020, Genetics in Medicine
  • Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement, 2020, The American Journal of Human Genetics
  • MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy, 2021, Genes
  • PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review, 2020, European Journal of Medical Genetics

Kaplan frequently publishes in venues such as bioRxiv (Cold Spring Harbor Laboratory), The American Journal of Human Genetics, Genes, Journal of Clinical Investigation, and Genetics in Medicine. Their most common publication outlet is bioRxiv, with a total of four papers.

Collaborations represent a significant component of Kaplan's research activity. Notable co-authors include:

  • Jean-Michel Rozet, with 15 joint publications
  • Isabelle Perrault, with 7 joint publications
  • S. Gerber, with 6 joint publications
  • Nathalie Boddaert, with 5 joint publications
  • Lucas Fares-Taie, with 5 joint publications

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

  • Defective myosin VIIA gene responsible for Usher syndrome type 1B

    Dominique Well;Stéphane Blanchard;Josseline Kaplan;Parry Guilford

  • Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

    Perrault I;Rozet Jm;Calvas P;Gerber S

  • 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

  • Mutation spectrum and splicing variants in the OPA1 gene.

    Cécile Delettre;Jean-Michel Griffoin;Josseline Kaplan;Hélène Dollfus

  • 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

  • Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

    Isabelle Perrault;Nathalie Delphin;Sylvain Hanein;Sylvie Gerber

  • Leber Congenital Amaurosis

    Isabelle Perrault;Jean-Michel Rozet;Sylvie Gerber;Imad Ghazi

  • 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

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

    Isabelle Perrault;Sylvain Hanein;Sylvie Gerber;Fabienne Barbet

  • Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

    Jean-Michel Rozet;Sylvie Gerber;Eric Souied;Isabelle Perrault

  • Clinical and genetic heterogeneity in retinitis pigmentosa

    Josseline Kaplan;Dominique Bonneau;Jean Frézal;Arnold Munnich

  • A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.

    Josseline Kaplan;Sylvie Gerber;Dominique Larget-Piet;Jean-Michel Rozet

  • Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

    Isabelle Perrault;Sophie Saunier;Sylvain Hanein;Emilie Filhol

  • Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

    Sylvie Gerber;Isabelle Perrault;Sylvain Hanein;Fabienne Barbet

  • Prevalence of AIPL1 mutations in inherited retinal degenerative disease

    Melanie M. Sohocki;Isabelle Perrault;Bart P. Leroy;Bart P. Leroy;Annette M. Payne

  • Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

    Jana Zernant;Maigi Külm;Sharola Dharmaraj;Anneke I den Hollander

  • Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

    Stephan Klebe;Christel Depienne;Sylvie Gerber;Georges Challe

  • AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

    Xavier Gerard;Isabelle Perrault;Sylvain Hanein;Eduardo Silva

  • Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

    Marc Ferré;Marc Ferré;Dominique Bonneau;Dominique Bonneau;Dan Milea;Dan Milea;Arnaud Chevrollier

Frequent Co-Authors

Jean-Michel Rozet
Jean-Michel Rozet Université Paris Cité
Isabelle Perrault
Isabelle Perrault Université Paris Cité
Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Hélène Dollfus
Hélène Dollfus University of Strasbourg
Dominique Bonneau
Dominique Bonneau University of Angers
Marlène Rio
Marlène Rio Université Paris Cité
Guy Lenaers
Guy Lenaers University of Angers
Nathalie Boddaert
Nathalie Boddaert Université Paris Cité

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