What is he best known for?
The fields of study he is best known for:
- Gene
- Internal medicine
- Mutation
His scientific interests lie mostly in Genetics, Retinitis pigmentosa, Macular degeneration, Mutation and Gene.
Retinal Cone Photoreceptor Cells is closely connected to Achromatopsia in his research, which is encompassed under the umbrella topic of Genetics.
His biological study spans a wide range of topics, including Disease gene identification, Genetic heterogeneity, ABCA4 and Candidate gene.
His ABCA4 research incorporates elements of Dystrophy and Pathology.
His Macular degeneration study results in a more complete grasp of Ophthalmology.
His study in Mutation is interdisciplinary in nature, drawing from both Disease, CRB1 and Genotype.
His most cited work include:
- A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants (638 citations)
- Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis (483 citations)
- Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR (451 citations)
What are the main themes of his work throughout his whole career to date?
Ophthalmology, Genetics, Macular degeneration, Visual acuity and Retinitis pigmentosa are his primary areas of study.
His Fluorescein angiography, Retinal, Retinal pigment epithelium and Electroretinography study, which is part of a larger body of work in Ophthalmology, is frequently linked to In patient, bridging the gap between disciplines.
His study in Gene, Mutation, Allele, Stargardt disease and Missense mutation are all subfields of Genetics.
The Macular degeneration study combines topics in areas such as Internal medicine, Age related, Single-nucleotide polymorphism and Ranibizumab.
His research in Visual acuity tackles topics such as Fundus photography which are related to areas like Ophthalmoscopy.
He interconnects Retinal degeneration, Dystrophy, Compound heterozygosity and ABCA4 in the investigation of issues within Retinitis pigmentosa.
He most often published in these fields:
- Ophthalmology (31.91%)
- Genetics (29.55%)
- Macular degeneration (25.30%)
What were the highlights of his more recent work (between 2017-2021)?
- Ophthalmology (31.91%)
- Genetics (29.55%)
- Macular degeneration (25.30%)
In recent papers he was focusing on the following fields of study:
His primary areas of investigation include Ophthalmology, Genetics, Macular degeneration, Stargardt disease and Internal medicine.
In the subject of general Ophthalmology, his work in Visual acuity, Retinal and Chronic central serous chorioretinopathy is often linked to Photodynamic therapy, thereby combining diverse domains of study.
His research integrates issues of Genome-wide association study, Single-nucleotide polymorphism, Complement system, Disease and Age related in his study of Macular degeneration.
His Stargardt disease research incorporates themes from Clinical trial, RNA splicing and ABCA4.
The concepts of his Internal medicine study are interwoven with issues in Gastroenterology, Allele and Oncology.
In his study, Fundus is strongly linked to Retinitis pigmentosa, which falls under the umbrella field of Missense mutation.
Between 2017 and 2021, his most popular works were:
- Non-syndromic retinitis pigmentosa (186 citations)
- Deep learning approach for the detection and quantification of intraretinal cystoid fluid in multivendor optical coherence tomography. (74 citations)
- Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. (62 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Internal medicine
- Mutation
Carel B. Hoyng mainly investigates Genetics, Macular degeneration, Ophthalmology, Visual acuity and Internal medicine.
His work is connected to Exome sequencing, Gene and Stargardt disease, as a part of Genetics.
His Stargardt disease research is multidisciplinary, incorporating perspectives in Penetrance, Allele, Allele frequency and ABCA4.
His Macular degeneration study incorporates themes from Lipid metabolism, Genome-wide association study, Complement system and Ranibizumab.
His biological study deals with issues like Diabetic retinopathy, which deal with fields such as Blood pressure.
His Heterozygote advantage research is multidisciplinary, relying on both Fundus and Retinitis pigmentosa.
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