2026 Sylvie Gerber: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Genetics	48	4067	3839	211	201	114	7456

Overview

Sylvie Gerber is a researcher affiliated with Inserm in France, contributing primarily to the fields of biochemistry, genetics, and molecular biology, with additional work in medicine. Their research focus spans several specialized subfields including molecular biology, ophthalmology, oncology, immunology, and physiology.

The scientist's main research topics include mitochondrial function and pathology, ATP synthase and ATPases research, cell death mechanisms and regulation, interferon and immune responses, peroxisome proliferator-activated receptors, photosynthetic processes and mechanisms, and telomeres, telomerase, and senescence.

Recent publications by Sylvie Gerber highlight work on hereditary optic neuropathies and molecular genetics. Notable papers include:

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy (2021, Journal of Clinical Investigation)
MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy (2021, Genes)
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm (2023, Brain)
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy (2023, EMBO Molecular Medicine)
En Face Optical Coherence Tomography Imaging in Enhanced S-Cone Syndrome (2020, Retina)

Collaborations form a significant part of their scholarly work, with frequent coauthors including Josseline Kaplan, Jean-Michel Rozet, Guy Lenaers, Cléis Beaulieu, and Majida Charif.

Their research is regularly published in established venues such as the Journal of Clinical Investigation, Genes, Brain, EMBO Molecular Medicine, and Retina.

Best Publications

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

Perrault I;Rozet Jm;Calvas P;Gerber S

534
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

465
Citations
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Isabelle Perrault;Nathalie Delphin;Sylvain Hanein;Sylvie Gerber

313
Citations
Leber Congenital Amaurosis

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

274
Citations
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Isabelle Perrault;Sylvain Hanein;Sylvie Gerber;Fabienne Barbet

256
Citations
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

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

230
Citations
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

223
Citations
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Isabelle Perrault;Sophie Saunier;Sylvain Hanein;Emilie Filhol

217
Citations
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

206
Citations
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

J. Kaplan;S. Gerber;D. Bonneau;J.M. Rozet

199
Citations
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Stephan Klebe;Christel Depienne;Sylvie Gerber;Georges Challe

184
Citations
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

Isabelle Perrault;Jean-Michel Rozet;Imad Ghazi;Corinne Leowski

161
Citations
Spectrum of retGC1 mutations in Leber's congenital amaurosis.

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

160
Citations
A Newly Identified Locus for Usher Syndrome Type I, USH1E, Maps to Chromosome 21q21

Hassan Chaïb;Josseline Kaplan;Sylvie Gerber;Christophe Vincent

159
Citations
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Sylvie Gerber;Kamil J. Alzayady;Lydie Burglen;Dominique Brémond-Gignac

147
Citations
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Isabelle Perrault;Sylvain Hanein;Xavier Zanlonghi;Valérie Serre

145
Citations
Myosin VIIA Gene: Heterogeneity of the Mutations Responsible for Usher Syndrome Type IB

Gallia Lévy;Fabienne Levi-Acobas;Stéphane Blanchard;Sylvie Gerber

137
Citations
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Sylvie Gerber;Majida Charif;Arnaud Chevrollier;Tanguy Chaumette

136
Citations
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

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

134
Citations
Spectrum of NPHP6 (CEP290) Mutations in Leber Congenital Amaurosis and Delineation of the Associated Phenotype

I. Perrault;N. Delphin;S. Hanein;S. Gerber

0
Citations

Frequent Co-Authors

Jean-Michel Rozet Université Paris Cité

Josseline Kaplan Université Paris Cité

Isabelle Perrault Université Paris Cité

Arnold Munnich Necker-Enfants Malades Hospital

Dominique Bonneau University of Angers

Hélène Dollfus University of Strasbourg

Christian P. Hamel Inserm

Jean Weissenbach Centre national de la recherche scientifique, CNRS

Guy Lenaers University of Angers

Marlène Rio Université Paris Cité

External Links

Personal website of Sylvie Gerber

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