What is he best known for?
The fields of study he is best known for:
His scientific interests lie mostly in Genetics, Retinitis pigmentosa, Gene, Locus and Molecular biology.
His studies in Gene mapping, PRPF31, Retinal degeneration, Missense mutation and Genetic heterogeneity are all subfields of Genetics research.
His Retinitis pigmentosa research incorporates themes from Photoreceptor outer segment and Macular degeneration.
His Gene research includes elements of Consanguinity and Function.
Chris F. Inglehearn has included themes like Ciliary body, Glaucoma and Null allele in his Locus study.
Chris F. Inglehearn studied Molecular biology and Polymerase chain reaction that intersect with Real-time polymerase chain reaction, Southern blot and Gene rearrangement.
His most cited work include:
- Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. (381 citations)
- Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (295 citations)
- Real-time PCR based on SYBR-Green I fluorescence: An alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions (289 citations)
What are the main themes of his work throughout his whole career to date?
His primary scientific interests are in Genetics, Gene, Retinitis pigmentosa, Locus and Phenotype.
His Genetics study frequently links to related topics such as Amelogenesis imperfecta.
The Amelogenesis imperfecta study combines topics in areas such as Amelogenesis and Ameloblast.
His Retinitis pigmentosa study combines topics in areas such as Retinal degeneration, Retinal dysplasia, Splicing factor and Cell biology.
His Locus research focuses on subjects like Genetic heterogeneity, which are linked to Familial exudative vitreoretinopathy.
The concepts of his Missense mutation study are interwoven with issues in Molecular biology, Allele and Exon.
He most often published in these fields:
- Genetics (64.15%)
- Gene (21.51%)
- Retinitis pigmentosa (18.87%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (64.15%)
- Gene (21.51%)
- Amelogenesis imperfecta (11.70%)
In recent papers he was focusing on the following fields of study:
Chris F. Inglehearn spends much of his time researching Genetics, Gene, Amelogenesis imperfecta, Exome sequencing and Retinal.
His study in Missense mutation, Exome, Phenotype, Haplotype and Mutation are all subfields of Genetics.
His Phenotype research is multidisciplinary, incorporating elements of LRP5 and Exon.
His Amelogenesis imperfecta study combines topics in areas such as Nystagmus, Amelogenesis, Ameloblast and Visual acuity.
The various areas that Chris F. Inglehearn examines in his Retinal study include Proband, Induced pluripotent stem cell and Cell biology.
His Retinal dystrophy study, which is part of a larger body of work in Retinitis pigmentosa, is frequently linked to Dna genetics, bridging the gap between disciplines.
Between 2015 and 2021, his most popular works were:
- Amelogenesis Imperfecta; Genes, Proteins, and Pathways. (61 citations)
- Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. (55 citations)
- Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies (37 citations)
In his most recent research, the most cited papers focused on:
Genetics, Retinitis pigmentosa, Allele, Internal medicine and Retinal are his primary areas of study.
His work on Genetics deals in particular with Phenotype, Gene, Missense mutation, Compound heterozygosity and Medical genetics.
His Retinitis pigmentosa research is multidisciplinary, incorporating perspectives in Optometry and Anatomy.
His work deals with themes such as Retinal degeneration, Dystrophy and Genetic disorder, which intersect with Allele.
His Retinal degeneration research incorporates elements of Mutation, Molecular biology, Spliceosome and Gene isoform.
His biological study spans a wide range of topics, including Cilium, Ciliogenesis and Alternative splicing.
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