What is he best known for?
The fields of study he is best known for:
Christian P. Hamel mainly investigates Genetics, Retinitis pigmentosa, Mutation, Pathology and Mitochondrion.
His Retinitis pigmentosa research incorporates themes from Genetic counseling, Genetic heterogeneity, Genetic linkage and Genotype.
His Mutation research integrates issues from Hearing loss, Neuroscience and Mitochondrial DNA.
His study in Pathology is interdisciplinary in nature, drawing from both Retina, Retinal, Compound heterozygosity and Internal medicine.
The concepts of his Mitochondrion study are interwoven with issues in Molecular biology and Saccharomyces cerevisiae.
Christian P. Hamel has included themes like mitochondrial fusion, Optic Atrophy 1, MFN2 and Retinal ganglion in his Cell biology study.
His most cited work include:
- Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. (1152 citations)
- Mutations in RPE65 cause Leber's congenital amaurosis (537 citations)
- Retinitis pigmentosa (509 citations)
What are the main themes of his work throughout his whole career to date?
His main research concerns Genetics, Gene, Retinitis pigmentosa, Ophthalmology and Atrophy.
His study in Genetics focuses on Mutation, Missense mutation, Genetic heterogeneity, Candidate gene and Exon.
His work deals with themes such as Phenotype and Mutant, which intersect with Mutation.
His Retinitis pigmentosa research is multidisciplinary, relying on both Retinal degeneration, Stargardt disease and Allele.
The Atrophy study combines topics in areas such as Retinal ganglion, Hearing loss and Optic nerve.
In his study, which falls under the umbrella issue of Retinal Dystrophies, Cell biology and Dystrophy is strongly linked to Retinal pigment epithelium.
He most often published in these fields:
- Genetics (46.39%)
- Gene (19.12%)
- Retinitis pigmentosa (17.87%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (46.39%)
- Atrophy (16.93%)
- Gene (19.12%)
In recent papers he was focusing on the following fields of study:
His primary scientific interests are in Genetics, Atrophy, Gene, Ophthalmology and Mutation.
Retinitis pigmentosa, Genetic heterogeneity, Exome, Allele and Disease gene identification are the core of his Genetics study.
The various areas that Christian P. Hamel examines in his Atrophy study include Endocrinology, Hearing loss and Optic nerve.
His Gene research focuses on Usher syndrome in particular.
His Mutation study integrates concerns from other disciplines, such as Mutant, Pediatrics and Exon.
In his study, Biochemistry and Loss function is inextricably linked to Cell biology, which falls within the broad field of Retinal.
Between 2015 and 2021, his most popular works were:
- Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing (66 citations)
- Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. (58 citations)
- Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations. (56 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Mutation, Genetics, Atrophy, Missense mutation and Ophthalmology are his primary areas of study.
The study incorporates disciplines such as Molecular biology, Genetic heterogeneity, Mutant and Retinitis pigmentosa in addition to Mutation.
His Retinitis pigmentosa research includes themes of Retinal degeneration, Dystrophy and Macular dystrophy.
His Atrophy research includes elements of Endocrinology, Hearing loss, Mitochondrion and Optic nerve.
As a part of the same scientific study, Christian P. Hamel usually deals with the Optic nerve, concentrating on Retinal ganglion and frequently concerns with Optic neuropathy and Cell biology.
His Visual acuity and Choroideremia study in the realm of Ophthalmology interacts with subjects such as Cone.
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