What is she best known for?
The fields of study she is best known for:
Genetics, Genetic heterogeneity, Retinitis pigmentosa, Mutation and Retinal Dystrophies are her primary areas of study.
Her study in Genetics concentrates on Locus, Gene mutation, Missense mutation, Exon and Gene.
Her Locus research includes elements of Gene mapping and Usher syndrome.
As a member of one scientific family, she mostly works in the field of Gene, focusing on Disease and, on occasion, Macular degeneration.
The various areas that Sylvie Gerber examines in her Genetic heterogeneity study include Disease gene identification, RPE65 and CRB1.
Sylvie Gerber works mostly in the field of Mutation, limiting it down to concerns involving Retinal pigment epithelium and, occasionally, Visual phototransduction, Retinal dehydrogenase and Dystrophy.
Her most cited work include:
- Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. (401 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. (280 citations)
- Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. (183 citations)
What are the main themes of her work throughout her whole career to date?
Sylvie Gerber spends much of her time researching Genetics, Gene, Genetic heterogeneity, Retinitis pigmentosa and Locus.
Her Mutation, Genetic linkage, Gene mapping, Exon and Missense mutation investigations are all subjects of Genetics research.
Her Gene research focuses on Apolipoprotein E and how it connects with Allele frequency.
Sylvie Gerber combines subjects such as Disease gene identification, Retinal Dystrophies, CRB1, RPE65 and Leber's congenital amaurosis with her study of Genetic heterogeneity.
The Retinitis pigmentosa study which covers Retinal degeneration that intersects with Frameshift mutation.
Her research investigates the connection with Locus and areas like Atrophy which intersect with concerns in Optic nerve.
She most often published in these fields:
- Genetics (76.72%)
- Gene (28.45%)
- Genetic heterogeneity (21.55%)
What were the highlights of her more recent work (between 2013-2021)?
- Genetics (76.72%)
- Atrophy (12.93%)
- Gene (28.45%)
In recent papers she was focusing on the following fields of study:
Her primary areas of study are Genetics, Atrophy, Gene, Mutation and Compound heterozygosity.
Her Optic neuropathy research extends to the thematically linked field of Genetics.
Her work deals with themes such as Young adult, Early onset, Intellectual disability and Pediatrics, which intersect with Atrophy.
Her Mutation research is multidisciplinary, incorporating elements of Myocyte, Sequence, Comparative genomic hybridization and Breakpoint.
The Compound heterozygosity study combines topics in areas such as mitochondrial fusion, Respiratory enzyme and Optic nerve disorder.
Her Genetic heterogeneity research is multidisciplinary, incorporating perspectives in Mitochondrial protein, Pathological and Disease Presentation.
Between 2013 and 2021, her 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)
- Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. (57 citations)
In her most recent research, the most cited papers focused on:
Her scientific interests lie mostly in Genetics, Mutant, Compound heterozygosity, Atrophy and Mutation.
Her Genetics study frequently draws parallels with other fields, such as Optic neuropathy.
Her Mutant research incorporates elements of Sanger sequencing, Aniridia and DNA replication.
The concepts of her Compound heterozygosity study are interwoven with issues in Exome sequencing, Respiratory enzyme, Nuclear gene and Frameshift mutation.
Her biological study spans a wide range of topics, including Complementation, Gene expression, Biosynthesis and Mitochondrial disease.
Her Mutation research integrates issues from Mitochondrion, Gene silencing, Morphogenesis and Zebrafish.
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