What is she best known for?
The fields of study she is best known for:
Her primary areas of study are Genetics, Mutation, Bardet–Biedl syndrome, Locus and Ciliopathies.
Her work on Genetics deals in particular with Genetic heterogeneity, Gene, Retinitis pigmentosa, Missense mutation and Ciliopathy.
Her studies in Mutation integrate themes in fields like Phenotype, Dwarfism, Seckel syndrome, Mitochondrial DNA and Optic neuropathy.
Her study focuses on the intersection of Bardet–Biedl syndrome and fields such as Zebrafish with connections in the field of Oligogenic Inheritance and Convergent extension.
Hélène Dollfus has included themes like Dystrophy, Stargardt's disease, Retinal Dystrophies and Disease in her Locus study.
Her Ciliopathies research includes elements of Cilium, Intraflagellar transport and Polycystic kidney disease.
Her most cited work include:
- Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (524 citations)
- Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. (401 citations)
- Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome (315 citations)
What are the main themes of her work throughout her whole career to date?
Her primary scientific interests are in Genetics, Bardet–Biedl syndrome, Gene, Mutation and Phenotype.
Her study in Genetic heterogeneity, Exon, Missense mutation, Ciliopathy and Retinitis pigmentosa is done as part of Genetics.
Her Ciliopathy research is multidisciplinary, relying on both Cilium, Ciliopathies, Allele and Intraflagellar transport.
Hélène Dollfus works mostly in the field of Bardet–Biedl syndrome, limiting it down to concerns involving Internal medicine and, occasionally, Pathology.
Hélène Dollfus works in the field of Gene, namely Gene mutation.
The various areas that Hélène Dollfus examines in her Mutation study include Microcephaly and Bioinformatics.
She most often published in these fields:
- Genetics (56.32%)
- Bardet–Biedl syndrome (19.54%)
- Gene (18.39%)
What were the highlights of her more recent work (between 2018-2021)?
- Genetics (56.32%)
- Bardet–Biedl syndrome (19.54%)
- Ciliopathy (11.11%)
In recent papers she was focusing on the following fields of study:
Her primary areas of investigation include Genetics, Bardet–Biedl syndrome, Ciliopathy, Gene and Cilium.
Rod-cone dystrophy, Allele, Exon, Missense mutation and Mutation are the primary areas of interest in her Genetics study.
Her Missense mutation study which covers Dysplasia that intersects with Phenotype.
Her work deals with themes such as Retinal degeneration, Alström syndrome, Pediatrics and Endocrinology, which intersect with Bardet–Biedl syndrome.
Her Ciliopathy research incorporates elements of Polydactyly and Exome sequencing.
Her Cilium research is multidisciplinary, incorporating perspectives in Biophysics, Ciliopathies, Retinitis pigmentosa and Small GTPase.
Between 2018 and 2021, her most popular works were:
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. (276 citations)
- The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach. (24 citations)
- Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. (19 citations)
In her most recent research, the most cited papers focused on:
Hélène Dollfus focuses on Genetics, Gene, Ciliopathy, Cilium and Bardet–Biedl syndrome.
Proband, Sanger sequencing, RNA Helicase A, DDX3X and DEAD box are the core of her Genetics study.
She combines subjects such as Immunology and Neurological disorder with her study of Gene.
Her Ciliopathy study incorporates themes from Epistasis, Nonsynonymous substitution, Allele, Mendelian inheritance and Genetic architecture.
The study incorporates disciplines such as Conformational change, Small GTPase and BBSome in addition to Cilium.
Her research in Bardet–Biedl syndrome focuses on subjects like Retinitis pigmentosa, which are connected to Compound heterozygosity.
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