What is she best known for?
The fields of study she is best known for:
Alison J. Hardcastle mainly investigates Genetics, Retinitis pigmentosa, Mutation, Cell biology and Retinal degeneration.
Her Gene mapping, Exon, Gene and Primer walking study, which is part of a larger body of work in Genetics, is frequently linked to Eye disorder, bridging the gap between disciplines.
Her Gene mapping research is multidisciplinary, incorporating perspectives in UniGene, Expressed sequence tag, Human genome and Pseudogene.
Alison J. Hardcastle has included themes like Positional cloning, Genetic heterogeneity and Nonsense mutation in her Retinitis pigmentosa study.
Her Cell biology research is multidisciplinary, incorporating perspectives in Retinal pigment epithelium and Photoreceptor Connecting Cilium.
Her biological study deals with issues like Rhodopsin, which deal with fields such as Color Vision Defects and Monochromacy.
Her most cited work include:
- The cone dysfunction syndromes (213 citations)
- The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein (206 citations)
- Progressive cone and cone-rod dystrophies: Phenotypes and underlying molecular genetic basis (162 citations)
What are the main themes of her work throughout her whole career to date?
Her scientific interests lie mostly in Genetics, Gene, Retinitis pigmentosa, Retinal degeneration and Exon.
Genetics is represented through her Locus, Mutation, Gene mapping, Genetic linkage and Candidate gene research.
She has included themes like Positional cloning, Rhodopsin, Genetic heterogeneity and Frameshift mutation in her Retinitis pigmentosa study.
The Retinal degeneration study combines topics in areas such as Nonsense mutation, Electroretinography and Cell biology.
Her work deals with themes such as Missense mutation, Molecular biology and Opsin, OPN1MW, OPN1LW, which intersect with Exon.
While the research belongs to areas of Missense mutation, she spends her time largely on the problem of Corneal dystrophy, intersecting her research to questions surrounding Pathology.
She most often published in these fields:
- Genetics (56.60%)
- Gene (20.28%)
- Retinitis pigmentosa (18.87%)
What were the highlights of her more recent work (between 2017-2021)?
- Genetics (56.60%)
- Retinal (14.15%)
- Posterior polymorphous corneal dystrophy (7.55%)
In recent papers she was focusing on the following fields of study:
Alison J. Hardcastle spends much of her time researching Genetics, Retinal, Posterior polymorphous corneal dystrophy, Molecular biology and Keratoconus.
Her study in Genetics focuses on RNA splicing, Exome sequencing, Sanger sequencing, Genome wide analysis and Mendelian Randomization Analysis.
Alison J. Hardcastle studies Retinitis pigmentosa, a branch of Retinal.
Her studies deal with areas such as Animal model, Optometry, Translational medicine and Cell biology as well as Retinitis pigmentosa.
Posterior polymorphous corneal dystrophy is a subfield of Gene that Alison J. Hardcastle investigates.
Alison J. Hardcastle focuses mostly in the field of Molecular biology, narrowing it down to topics relating to Opsin and, in certain cases, Photopigment and Optical coherence tomography.
Between 2017 and 2021, her most popular works were:
- Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity (25 citations)
- Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids. (24 citations)
- CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat. (24 citations)
In her most recent research, the most cited papers focused on:
Her primary scientific interests are in Molecular biology, Haploinsufficiency, Corneal dystrophy, Gene and Retinal.
Her Molecular biology study frequently involves adjacent topics like Optical coherence tomography.
Her Haploinsufficiency study incorporates themes from Corneal endothelium, Transcription factor, Posterior polymorphous corneal dystrophy, HEK 293 cells and Ectopic expression.
Her biological study spans a wide range of topics, including MBNL1, Corneal transplantation, Cancer research and Trinucleotide repeat expansion.
Alison J. Hardcastle combines topics linked to Hearing loss with her work on Gene.
Her study ties her expertise on Exon together with the subject of Retinal.
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