What is he best known for?
The fields of study he is best known for:
His primary scientific interests are in Genetics, Mutation, Genetic heterogeneity, Retinitis pigmentosa and Missense mutation.
His studies in Retinal Dystrophies, Gene, Genotype, Gene mutation and Genetic linkage are all subfields of Genetics research.
His work carried out in the field of Mutation brings together such families of science as Mutant and Leber congenital amaurosis.
His Genetic heterogeneity research incorporates elements of Leber's congenital amaurosis and CRB1.
His Retinitis pigmentosa research incorporates themes from Genetic marker, Base sequence and Founder effect.
His research integrates issues of Disease gene identification, Endocrinology and Internal medicine in his study of Missense mutation.
His most cited work include:
- Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia (764 citations)
- Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. (401 citations)
- X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus (286 citations)
What are the main themes of his work throughout his whole career to date?
Jean-Michel Rozet mostly deals with Genetics, Gene, Locus, Mutation and Retinitis pigmentosa.
Genetic heterogeneity, Gene mapping, Genetic linkage, Missense mutation and Exon are among the areas of Genetics where the researcher is concentrating his efforts.
He interconnects Leber's congenital amaurosis and CRB1 in the investigation of issues within Genetic heterogeneity.
His Missense mutation research includes themes of Stargardt disease and Gene mutation.
The study incorporates disciplines such as Atrophy, X chromosome, Allele, Haplotype and Usher syndrome in addition to Locus.
The various areas that Jean-Michel Rozet examines in his Mutation study include Retinal Dystrophies, Mutant, Molecular biology, Cilium and Ciliopathy.
He most often published in these fields:
- Genetics (69.52%)
- Gene (27.14%)
- Locus (16.67%)
What were the highlights of his more recent work (between 2014-2021)?
- Genetics (69.52%)
- Mutation (16.67%)
- Gene (27.14%)
In recent papers he was focusing on the following fields of study:
His main research concerns Genetics, Mutation, Gene, Ciliopathies and Bioinformatics.
His Genetics study frequently intersects with other fields, such as Disease.
His Mutation study incorporates themes from Retinal, Mutant, Retinal Dystrophies and Cilium, Cell biology.
His study looks at the relationship between Retinal Dystrophies and fields such as Genotype, as well as how they intersect with chemical problems.
His work on Penetrance, Retinoic acid, Model organism and Genetic architecture as part of general Gene study is frequently linked to Microcoria, therefore connecting diverse disciplines of science.
His Bioinformatics study combines topics in areas such as DNA sequencing and Retinal dystrophy.
Between 2014 and 2021, his most popular works were:
- Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome (69 citations)
- Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. (58 citations)
- Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells (30 citations)
In his most recent research, the most cited papers focused on:
Jean-Michel Rozet focuses on Mutation, Genetics, Mutant, Compound heterozygosity and Ciliopathies.
Mutation is a primary field of his research addressed under Gene.
His is involved in several facets of Genetics study, as is seen by his studies on Exome sequencing and Mitochondrion.
His work is dedicated to discovering how Compound heterozygosity, Molecular biology are connected with Respiratory enzyme, Genetic analysis, Gene mapping, NDUFS2 and Respiratory chain and other disciplines.
In Ciliopathies, Jean-Michel Rozet works on issues like Ciliopathy, which are connected to Structural variation, Copy-number variation, Haplotype, Genetic heterogeneity and Whole genome sequencing.
His Retinal Dystrophies research includes elements of Missense mutation, Exome, Bardet–Biedl syndrome and Genotype.
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